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 ARHGEF19 128272 broad.mit.edu 37 1 16531255 16531255 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:16531255C>T uc001ayc.1 - 12 2043 c.1906G>A c.(1906-1908)GAG>AAG p.E636K ARHGEF19_uc009voo.1_5'UTR|ARHGEF19_uc001ayb.1_Missense_Mutation_p.E113K NM_153213 NP_694945 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 636 PH. regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity skin(2)|ovary(1) 3 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) CCGACTCACTCCTTCCGCCGA 0.617 NaN 0 0 0 0.010729 0 10 20 LUZP1 7798 broad.mit.edu 37 1 23418665 23418665 + Missense_Mutation SNP C C T rs141739515 by1000genomes TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:23418665C>T uc001bgk.2 - 4 2474 c.2090G>A c.(2089-2091)CGA>CAA p.R697Q LUZP1_uc010odv.1_Missense_Mutation_p.R697Q|LUZP1_uc001bgl.2_Missense_Mutation_p.R697Q|LUZP1_uc001bgm.1_Missense_Mutation_p.R697Q NM_033631 NP_361013 Q86V48 LUZP1_HUMAN leucine zipper protein 1 697 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) AGGTGCCCCTCGGGTTTTAGC 0.463 NaN 0 0 0 0.008871 0 19 382 YTHDF2 51441 broad.mit.edu 37 1 29070328 29070328 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:29070328G>A uc001brc.2 + 4 2043 c.1546G>A c.(1546-1548)GAG>AAG p.E516K YTHDF2_uc001brd.2_Missense_Mutation_p.E513K|YTHDF2_uc010ofx.1_Missense_Mutation_p.E466K|YTHDF2_uc001bre.2_Missense_Mutation_p.E466K NM_016258 NP_057342 Q9Y5A9 YTHD2_HUMAN high glucose-regulated protein 8 516 YTH. humoral immune response ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) CATTCGCCTAGAGAACAACGA 0.478 NaN 0 0 0 0.02938 0 6 94 CMPK1 51727 broad.mit.edu 37 1 47840885 47840885 + Nonsense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:47840885C>T uc001cri.2 + 5 714 c.565C>T c.(565-567)CAG>TAG p.Q189* CMPK1_uc010omp.1_Nonsense_Mutation_p.Q140*|CMPK1_uc010omq.1_RNA NM_016308 NP_057392 P30085 KCY_HUMAN UMP-CMP kinase 1 isoform a 157 nucleobase, nucleoside and nucleotide interconversion cytosol|nucleus ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity ovary(1) 1 Gemcitabine(DB00441) GACCTACCTTCAGTCAACAAA 0.368 NaN 0 0 0 0.008291 0 10 164 LRRC7 57554 broad.mit.edu 37 1 70505042 70505042 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:70505042G>A uc001dep.2 + 19 3451 c.3421G>A c.(3421-3423)GAT>AAT p.D1141N LRRC7_uc009wbg.2_Missense_Mutation_p.D425N|LRRC7_uc001deq.2_Missense_Mutation_p.D382N NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1141 centrosome|focal adhesion|nucleolus protein binding p.D1141N(1) ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 GCCCCCAACTGATAGGTACGG 0.572 NaN 0 0 0 0.025465 0 40 112 COL11A1 1301 broad.mit.edu 37 1 103404632 103404632 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:103404632C>T uc001dul.2 - 44 3715 c.3397G>A c.(3397-3399)GAG>AAG p.E1133K COL11A1_uc001duk.2_Missense_Mutation_p.E329K|COL11A1_uc001dum.2_Missense_Mutation_p.E1145K|COL11A1_uc001dun.2_Missense_Mutation_p.E1094K|COL11A1_uc009weh.2_Missense_Mutation_p.E1017K NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1133 Triple-helical region. 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) TGTCCCGGCTCACCAATTTCA 0.333 NaN 0 0 0 0.017118 0 32 81 DENND2C 163259 broad.mit.edu 37 1 115166229 115166229 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:115166229C>T uc001efd.1 - 5 1544 c.842G>A c.(841-843)CGA>CAA p.R281Q DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.R281Q NM_198459 NP_940861 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 281 skin(3) 3 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTTCCGATTTCGAAAGTGCTG 0.303 NaN 0 0 0 0.009096 0 4 42 BOLA1 51027 broad.mit.edu 37 1 149871751 149871751 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:149871751G>A uc001etf.2 + 2 260 c.139G>A c.(139-141)GAG>AAG p.E47K 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 0 0 0 0.009096 0 4 36 SEMA4A 64218 broad.mit.edu 37 1 156145022 156145022 + Missense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:156145022C>G uc001fnl.2 + 13 1684 c.1580C>G c.(1579-1581)TCT>TGT p.S527C SEMA4A_uc009wrq.2_Missense_Mutation_p.S527C|SEMA4A_uc001fnm.2_Missense_Mutation_p.S527C|SEMA4A_uc001fnn.2_Missense_Mutation_p.S395C|SEMA4A_uc001fno.2_Missense_Mutation_p.S527C NM_022367 NP_071762 Q9H3S1 SEM4A_HUMAN semaphorin B precursor 527 Extracellular (Potential).|PSI. axon guidance integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 Hepatocellular(266;0.158) TGCCTCCTGTCTGCCCCCAAC 0.617 NaN 0 0 0 0.01441 0 68 192 OR10K1 391109 broad.mit.edu 37 1 158435847 158435847 + Missense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:158435847C>G uc010pij.1 + 1 496 c.496C>G c.(496-498)CTG>GTG p.L166V NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, 166 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) AGTATTTCATCTGCCCTTCCA 0.547 NaN 0 0 0 0.01441 0 64 180 USP21 27005 broad.mit.edu 37 1 161132715 161132715 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:161132715G>A uc010pke.1 + 7 1277 c.900G>A c.(898-900)CAG>CAA p.Q300Q USP21_uc010pkc.1_Silent_p.Q300Q|USP21_uc010pkd.1_Silent_p.Q300Q|USP21_uc010pkf.1_Silent_p.Q300Q NM_001014443 NP_001014443 Q9UK80 UBP21_HUMAN ubiquitin-specific protease 21 300 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1)|prostate(1)|breast(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GTAGCCAGCAGGATGCCCAAG 0.557 NaN 0 0 0 0.004482 0 9 78 TPR 7175 broad.mit.edu 37 1 186283842 186283842 + Nonsense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:186283842G>A uc001grv.2 - 50 7252 c.6955C>T c.(6955-6957)CAA>TAA p.Q2319* NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 2319 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) GGCTTTGGTTGACTACTACTA 0.333 NaN T NTRK1 papillary thyroid 0 0 0 0.02938 0 6 58 RBBP5 5929 broad.mit.edu 37 1 205069074 205069074 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:205069074G>A uc001hbu.1 - 8 1001 c.871C>T c.(871-873)CAT>TAT p.H291Y RBBP5_uc010prd.1_Missense_Mutation_p.H326Y|RBBP5_uc001hbv.1_Missense_Mutation_p.H291Y|RBBP5_uc010pre.1_Missense_Mutation_p.H158Y NM_005057 NP_005048 Q15291 RBBP5_HUMAN retinoblastoma binding protein 5 291 WD 5. histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent MLL1 complex|Set1C/COMPASS complex methylated histone residue binding|transcription regulatory region DNA binding lung(1) 1 Breast(84;0.0505) BRCA - Breast invasive adenocarcinoma(75;0.0923) CTCGTCCCATGGAGAATCTTC 0.458 NaN 0 0 0 0.01441 0 47 196 IL15RA 3601 broad.mit.edu 37 10 5995118 5995118 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr10:5995118C>T uc001iiv.2 - 7 826 c.744G>A c.(742-744)CCG>CCA p.P248P IL15RA_uc001iiu.2_Intron|IL15RA_uc010qau.1_Silent_p.P215P|IL15RA_uc001iiw.2_Silent_p.P212P|IL15RA_uc001iix.2_Silent_p.P179P|IL15RA_uc001iiy.2_Silent_p.P96P NM_002189 NP_002180 Q13261 I15RA_HUMAN interleukin 15 receptor, alpha isoform 1 248 Cytoplasmic (Potential). cell proliferation cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane cytokine receptor activity 0 CCCAAGTCACCGGCAGAGCCT 0.557 NaN 0 0 0 0.013537 0 12 82 ERCC6 2074 broad.mit.edu 37 10 50708622 50708622 + Silent SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr10:50708622C>G uc001jhs.3 - 7 1801 c.1647G>C c.(1645-1647)CTG>CTC p.L549L ERCC6_uc010qgr.1_5'UTR|ERCC6_uc001jhr.3_5'UTR NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 549 Helicase ATP-binding. base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 TGCTGTAGCTCAGACCTGCCA 0.483 NaN Direct_reversal_of_damage|NER 0 0 0 0.020292 0 13 114 SRGN 5552 broad.mit.edu 37 10 70863778 70863778 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr10:70863778G>A uc001joz.2 + 3 465 c.379G>A c.(379-381)GAT>AAT p.D127N NM_002727 NP_002718 P10124 SRGN_HUMAN serglycin precursor 127 apoptosis|biomineral tissue development|maintenance of granzyme B location in T cell secretory granule|maintenance of protease location in mast cell secretory granule|negative regulation of bone mineralization|negative regulation of cytokine secretion|platelet activation|platelet degranulation|protein maturation by peptide bond cleavage extracellular space|mast cell granule|platelet alpha granule lumen 0 AGACGAAAGTGATGCTTTCCA 0.483 NaN 0 0 0 0.00308 0 8 90 H2AFY2 55506 broad.mit.edu 37 10 71871382 71871382 + Silent SNP C C T rs145574275 byFrequency TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr10:71871382C>T uc001jqm.2 + 9 1521 c.1062C>T c.(1060-1062)TTC>TTT p.F354F H2AFY2_uc001jqn.2_RNA|AIFM2_uc010qjg.1_Intron NM_018649 NP_061119 Q9P0M6 H2AW_HUMAN H2A histone family, member Y2 354 Macro. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding skin(1) 1 TCCTGCTCTTCGACAGCGAGA 0.602 NaN 0 0 0 0.008291 0 11 46 MRGPRX2 117194 broad.mit.edu 37 11 19077358 19077358 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr11:19077358G>A uc001mph.2 - 2 680 c.592C>T c.(592-594)CTC>TTC p.L198F NM_054030 NP_473371 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 198 Helical; Name=5; (Potential). sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding ovary(1) 1 GACCCACAGAGAACCATGAAT 0.517 NaN 0 0 0 0.02938 0 7 63 CELF1 10658 broad.mit.edu 37 11 47493803 47493803 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr11:47493803C>T uc001nfl.2 - 12 1450 c.1440G>A c.(1438-1440)AAG>AAA p.K480K CELF1_uc001nfk.1_5'Flank|CELF1_uc001nfm.2_Silent_p.K477K|CELF1_uc001nfn.2_Silent_p.K476K|CELF1_uc001nfo.1_Silent_p.K506K|CELF1_uc010rhm.1_Silent_p.K479K|CELF1_uc001nfp.2_Silent_p.K508K|CELF1_uc001nfq.1_Silent_p.K480K|CELF1_uc001nfr.1_Silent_p.K480K NM_001025596 NP_001020767 Q92879 CELF1_HUMAN CUG triplet repeat, RNA-binding protein 1 480 embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference cytoplasm|nucleus|ribonucleoprotein complex BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding central_nervous_system(2)|ovary(1) 3 TGCTGTCATTCTTCGAACGTT 0.527 NaN 0 0 0 0.0333 0 18 270 OR4X2 119764 broad.mit.edu 37 11 48267202 48267202 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr11:48267202G>A uc001ngs.1 + 1 547 c.547G>A c.(547-549)GAC>AAC p.D183N NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, 183 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGCCTGCTCTGACACCTTCCT 0.483 NaN 0 0 0 0.028581 0 15 266 OR5D18 219438 broad.mit.edu 37 11 55587678 55587678 + Silent SNP T T A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr11:55587678T>A uc010rin.1 + 1 573 c.573T>A c.(571-573)TCT>TCA p.S191S NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 191 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) TTTCTTGCTCTGATACTTACA 0.398 NaN 0 0 0 0.0333 0 16 133 OR5M1 390168 broad.mit.edu 37 11 56380343 56380343 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr11:56380343G>A uc001nja.1 - 1 636 c.636C>T c.(634-636)TTC>TTT p.F212F NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, 212 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 GAAGAATGATGAAGAGAGAGC 0.473 NaN 0 0 0 0.028581 0 16 98 ATG2A 23130 broad.mit.edu 37 11 64669802 64669802 + Missense_Mutation SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr11:64669802G>C uc001obx.2 - 28 3949 c.3834C>G c.(3832-3834)ATC>ATG p.I1278M ATG2A_uc001obw.2_Missense_Mutation_p.I43M NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1278 protein binding ovary(1)|central_nervous_system(1) 2 CACGCTGGTTGATGAGGGCCG 0.672 NaN 0 0 0 0.004672 0 3 18 C11orf30 56946 broad.mit.edu 37 11 76171016 76171016 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr11:76171016C>T uc001oxl.2 + 6 601 c.458C>T c.(457-459)CCA>CTA p.P153L C11orf30_uc001oxk.2_3'UTR|C11orf30_uc009yuj.1_Missense_Mutation_p.P168L|C11orf30_uc010rsa.1_Intron|C11orf30_uc001oxm.2_Missense_Mutation_p.P154L|C11orf30_uc010rsb.1_Missense_Mutation_p.P168L|C11orf30_uc010rsc.1_Missense_Mutation_p.P168L|C11orf30_uc001oxn.2_Missense_Mutation_p.P154L|C11orf30_uc010rsd.1_Missense_Mutation_p.P167L NM_020193 NP_064578 Q7Z589 EMSY_HUMAN EMSY protein 153 Interaction with BRCA2. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 ACGTCAACCCCAACCTCTACC 0.458 NaN 0 0 0 0.012213 0 33 179 GUCY1A2 2977 broad.mit.edu 37 11 106558346 106558346 + Missense_Mutation SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr11:106558346G>C uc001pjg.1 - 8 2518 c.2128C>G c.(2128-2130)CTT>GTT p.L710V GUCY1A2_uc010rvo.1_Missense_Mutation_p.L731V|GUCY1A2_uc009yxn.1_Missense_Mutation_p.L741V NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 710 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GACGAAGAAAGAGAAGGCTTT 0.488 NaN 0 0 0 0.024245 0 16 154 FDXACB1 91893 broad.mit.edu 37 11 111746739 111746739 + Missense_Mutation SNP C C A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr11:111746739C>A uc001pmc.3 - 5 1079 c.782G>T c.(781-783)AGG>ATG p.R261M ALG9_uc010rwo.1_Intron|FDXACB1_uc009yyi.2_Missense_Mutation_p.R112M NM_138378 NP_612387 Q9BRP7 FDXA1_HUMAN ferredoxin-fold anticodon binding domain 261 phenylalanyl-tRNA aminoacylation|tRNA processing ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding 0 ACACTTCAGCCTTTTTAGCGG 0.423 NaN 1 0 1.67942e-08 0.006122 1.75023e-08 19 108 NLRX1 79671 broad.mit.edu 37 11 119045225 119045225 + Missense_Mutation SNP C C T rs149154497 TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr11:119045225C>T uc001pvu.2 + 6 1128 c.913C>T c.(913-915)CGC>TGC p.R305C NLRX1_uc010rzc.1_Missense_Mutation_p.R127C|NLRX1_uc001pvv.2_Missense_Mutation_p.R305C|NLRX1_uc001pvw.2_Missense_Mutation_p.R305C|NLRX1_uc001pvx.2_Missense_Mutation_p.R305C NM_024618 NP_078894 Q86UT6 NLRX1_HUMAN NLR family member X1 isoform 1 305 Required for interaction with MAVS.|NACHT. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding ovary(1)|skin(1) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GTACGTGGGCCGCTATGGTGA 0.567 NaN 0 0 0 0.010729 0 12 194 PZP 5858 broad.mit.edu 37 12 9313698 9313698 + Missense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr12:9313698C>G uc001qvl.2 - 23 2832 c.2803G>C c.(2803-2805)GAG>CAG p.E935Q PZP_uc009zgl.2_Missense_Mutation_p.E721Q|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Silent_p.L166L NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 GACAACTGCTCAGACACATTA 0.353 NaN 0 0 0 0.010818 0 31 86 RECQL 5965 broad.mit.edu 37 12 21624476 21624476 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr12:21624476G>A uc001rex.2 - 14 1901 c.1553C>T c.(1552-1554)TCT>TTT p.S518F RECQL_uc001rey.2_Missense_Mutation_p.S518F NM_032941 NP_116559 P46063 RECQ1_HUMAN RecQ protein-like 518 DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding ovary(1)|lung(1) 2 TCCCATCCAAGAATCAATCAG 0.423 NaN Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 0 0 0 0.028581 0 16 159 DENND5B 160518 broad.mit.edu 37 12 31604940 31604940 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr12:31604940G>A uc001rki.1 - 5 1749 c.1563C>T c.(1561-1563)GTC>GTT p.V521V DENND5B_uc001rkh.1_Silent_p.V556V|DENND5B_uc009zjq.1_Intron|DENND5B_uc001rkj.2_Silent_p.V543V|DENND5B_uc001rkk.1_Silent_p.V443V NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 521 dDENN. integral to membrane ovary(1)|central_nervous_system(1) 2 CAGTCTGAATGACAAATGCTT 0.443 NaN 0 0 0 0.010729 0 11 103 SPATS2 65244 broad.mit.edu 37 12 49883353 49883353 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr12:49883353G>A uc001rud.2 + 5 1200 c.211G>A c.(211-213)GAA>AAA p.E71K SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Missense_Mutation_p.E71K|SPATS2_uc001ruf.2_Missense_Mutation_p.E71K|SPATS2_uc001rug.2_Missense_Mutation_p.E71K NM_023071 NP_075559 Q86XZ4 SPAS2_HUMAN spermatogenesis associated, serine-rich 2 71 cytoplasm breast(1) 1 AGCATTCATGGAAGGTAATCC 0.328 NaN 0 0 0 0.008291 0 10 43 KRT79 338785 broad.mit.edu 37 12 53225239 53225239 + Missense_Mutation SNP C C A rs140032117 byFrequency TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr12:53225239C>A uc001sbb.2 - 2 682 c.649G>T c.(649-651)GAC>TAC p.D217Y KRT79_uc001sba.2_5'Flank NM_175834 NP_787028 Q5XKE5 K2C79_HUMAN keratin 6L 217 Rod.|Coil 1B. keratin filament structural molecule activity ovary(2)|skin(2) 4 AGCTCTGAGTCCAGCCTCCCC 0.622 NaN 1 0 2.09667e-21 0.017118 2.25294e-21 31 115 NCKAP1L 3071 broad.mit.edu 37 12 54901657 54901657 + Silent SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr12:54901657C>G uc001sgc.3 + 4 406 c.327C>G c.(325-327)CTC>CTG p.L109L NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Silent_p.L59L NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 109 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 ATGAACTTCTCAACACCATTG 0.423 NaN 0 0 0 0.01441 0 42 158 CDK2 1017 broad.mit.edu 37 12 56361840 56361840 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr12:56361840G>A uc001sit.3 + 3 439 c.202G>A c.(202-204)GAT>AAT p.D68N CDK2_uc001siu.3_Missense_Mutation_p.D68N|CDK2_uc010spy.1_Missense_Mutation_p.D42N NM_001798 NP_001789 P24941 CDK2_HUMAN cyclin-dependent kinase 2 isoform 1 68 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol ATP binding|cyclin-dependent protein kinase activity|identical protein binding stomach(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235) TAGGCTGCTGGATGTCATTCA 0.443 NaN 0 0 0 0.024245 0 16 104 POLR3B 55703 broad.mit.edu 37 12 106820980 106820980 + Missense_Mutation SNP A A T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr12:106820980A>T uc001tlp.2 + 13 1329 c.1107A>T c.(1105-1107)TTA>TTT p.L369F POLR3B_uc001tlq.2_Missense_Mutation_p.L311F NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 369 innate immune response|positive regulation of 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 nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 TTTAGCTTTTATCTCTTCTTT 0.269 NaN 0 0 0 0.00308 0 6 12 TCTN1 79600 broad.mit.edu 37 12 111072480 111072480 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr12:111072480C>T uc009zvs.2 + 6 826 c.718C>T c.(718-720)CTG>TTG p.L240L TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Silent_p.L180L|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Intron|TCTN1_uc001trn.3_Silent_p.L240L|TCTN1_uc001trj.1_Silent_p.L184L|TCTN1_uc001trk.3_RNA|HVCN1_uc001trq.1_Intron NM_001082537 NP_001076006 Q2MV58 TECT1_HUMAN tectonic family member 1 isoform 2 240 multicellular organismal development extracellular region 0 TCTAGCGTTTCTGGTGAACCA 0.343 NaN 0 0 0 0.009096 0 4 20 CUX2 23316 broad.mit.edu 37 12 111785494 111785494 + Missense_Mutation SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr12:111785494G>C uc001tsa.1 + 22 3979 c.3826G>C c.(3826-3828)GAG>CAG p.E1276Q NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 1276 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 GAAGGAACTGGAGCTTCAGGA 0.617 NaN 0 0 0 0.006214 0 10 66 IRS2 8660 broad.mit.edu 37 13 110434606 110434606 + Silent SNP T T G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr13:110434606T>G uc001vqv.2 - 1 4309 c.3795A>C c.(3793-3795)CCA>CCC p.P1265P NM_003749 NP_003740 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 1265 Poly-Pro. 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) gcggctggggtggcagcCCGG 0.512 NaN 0 0 0 0.020292 0 8 12 SUPT16H 11198 broad.mit.edu 37 14 21852042 21852042 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr14:21852042C>T uc001wao.2 - 1 384 c.45G>A c.(43-45)AAG>AAA p.K15K SUPT16H_uc001wap.2_Silent_p.K15K|SUPT16H_uc001waq.1_Silent_p.K15K NM_007192 NP_009123 Q9Y5B9 SP16H_HUMAN chromatin-specific transcription elongation 15 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding 0 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) TGTACAGTCTCTTCACTCGCC 0.547 NaN 0 0 0 0.006214 0 8 74 SMEK1 55671 broad.mit.edu 37 14 91937257 91937257 + Missense_Mutation SNP C C G rs148837810 TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr14:91937257C>G uc001xzn.2 - 10 2406 c.1584G>C c.(1582-1584)AAG>AAC p.K528N SMEK1_uc001xzm.2_Missense_Mutation_p.K515N|SMEK1_uc001xzo.2_Missense_Mutation_p.K515N|SMEK1_uc010atz.2_Missense_Mutation_p.K289N|SMEK1_uc001xzp.1_RNA NM_032560 NP_115949 Q6IN85 P4R3A_HUMAN SMEK homolog 1, suppressor of mek1 528 microtubule organizing center|nucleus protein binding 0 all_cancers(154;0.0691)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.221) TAATGTAGTTCTTTATGTGGT 0.358 NaN 0 0 0 0.007413 0 18 65 SMEK1 55671 broad.mit.edu 37 14 91937337 91937337 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr14:91937337C>T uc001xzn.2 - 10 2326 c.1504G>A c.(1504-1506)GAT>AAT p.D502N SMEK1_uc001xzm.2_Missense_Mutation_p.D489N|SMEK1_uc001xzo.2_Missense_Mutation_p.D489N|SMEK1_uc010atz.2_Missense_Mutation_p.D263N|SMEK1_uc001xzp.1_RNA NM_032560 NP_115949 Q6IN85 P4R3A_HUMAN SMEK homolog 1, suppressor of mek1 502 microtubule organizing center|nucleus protein binding 0 all_cancers(154;0.0691)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.221) GTCTGAAAATCATCTAAAAGA 0.289 NaN 0 0 0 0.020292 0 11 47 RIN3 79890 broad.mit.edu 37 14 93125804 93125804 + Silent SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr14:93125804C>G uc001yap.2 + 7 2477 c.2325C>G c.(2323-2325)CTC>CTG p.L775L RIN3_uc010auk.2_Silent_p.L437L|RIN3_uc001yaq.2_Silent_p.L700L|RIN3_uc001yar.1_Silent_p.L437L|RIN3_uc001yas.1_Silent_p.L437L NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 775 VPS9. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding lung(2)|ovary(1) 3 all_cancers(154;0.0701) CCATGGCCCTCGGCAACCCAG 0.582 NaN 0 0 0 0.008291 0 9 76 IQCH 64799 broad.mit.edu 37 15 67793052 67793052 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr15:67793052G>A uc002aqo.1 + 21 3099 c.3052G>A c.(3052-3054)GAT>AAT p.D1018N IQCH_uc002aqq.1_Missense_Mutation_p.D675N|IQCH_uc002aqp.1_3'UTR|uc002aqr.1_Intron NM_001031715 NP_001026885 Q86VS3 IQCH_HUMAN IQ motif containing H isoform 1 1018 skin(3)|ovary(1) 4 Colorectal(3;0.0856) ACAGTCCAAAGATGATAAAAA 0.328 NaN 0 0 0 0.00308 0 7 57 LBXCOR1 390598 broad.mit.edu 37 15 68118511 68118511 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr15:68118511G>A uc002aqy.1 + 2 318 c.318G>A c.(316-318)GAG>GAA p.E106E NM_001031807 NP_001026977 P84550 SKOR1_HUMAN transcriptional corepressor Corl1 115 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity 0 GCTATAATGAGATCCACAACC 0.632 NaN 0 0 0 0.010729 0 10 80 SPESP1 246777 broad.mit.edu 37 15 69238236 69238236 + Missense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr15:69238236C>G uc002arn.1 + 2 491 c.363C>G c.(361-363)TTC>TTG p.F121L NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron NM_145658 NP_663633 Q6UW49 SPESP_HUMAN sperm equatorial segment protein 1 precursor 121 multicellular organismal development acrosomal vesicle 0 GTACCCCATTCTGGTCGATCA 0.428 NaN 0 0 0 0.013537 0 11 70 PARP6 56965 broad.mit.edu 37 15 72552921 72552921 + Silent SNP C C T rs28625945 TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr15:72552921C>T uc002auc.2 - 9 1113 c.654G>A c.(652-654)AAG>AAA p.K218K PARP6_uc002aua.2_Silent_p.K83K|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Silent_p.K218K NM_020214 NP_064599 Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 218 NAD+ ADP-ribosyltransferase activity 0 CTTTGGGGTTCTTCATGGTAC 0.582 NaN 0 0 0 0.01441 0 69 442 ISLR2 57611 broad.mit.edu 37 15 74425216 74425216 + Missense_Mutation SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr15:74425216G>C uc002axd.2 + 4 890 c.121G>C c.(121-123)GAG>CAG p.E41Q ISLR2_uc002axe.2_Missense_Mutation_p.E41Q|ISLR2_uc010bjg.2_Missense_Mutation_p.E41Q|ISLR2_uc010bjf.2_Missense_Mutation_p.E41Q NM_001130136 NP_001123608 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing 41 Extracellular (Potential).|LRRNT. positive regulation of axon extension cell surface|integral to membrane|plasma membrane 0 CGCTTACAAAGAGTTGCGTGA 0.637 NaN 0 0 0 0.010729 0 10 89 SRCAP 10847 broad.mit.edu 37 16 30731577 30731577 + Missense_Mutation SNP G G T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 G T G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr16:30731577G>T uc002dze.1 + 19 3297 c.2912G>T c.(2911-2913)CGC>CTC p.R971L SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R828L|SRCAP_uc010bzz.1_Missense_Mutation_p.R541L NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 971 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) CGCCTCTCTCGCCGGGTACTG 0.567 NaN 1 0 5.44703e-19 0.036044 5.81689e-19 43 212 TMCO7 79613 broad.mit.edu 37 16 68901008 68901008 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr16:68901008G>A uc002ewi.3 + 4 891 c.879G>A c.(877-879)ATG>ATA p.M293I TMCO7_uc002ewh.2_Missense_Mutation_p.M293I NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN transmembrane and coiled-coil domains 7 293 integral to membrane binding 0 Ovarian(137;0.0568) OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198) AGACACAGATGAGGTGTCGGG 0.502 NaN 0 0 0 0.008291 0 11 109 SDR42E1 93517 broad.mit.edu 37 16 82033729 82033729 + Missense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr16:82033729C>G uc002fgu.2 - 3 297 c.169G>C c.(169-171)GAC>CAC p.D57H NM_145168 NP_660151 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, 57 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding 0 TGGCGGATGTCTCCTTGTATA 0.498 NaN 0 0 0 0.020292 0 13 156 SMYD4 114826 broad.mit.edu 37 17 1704306 1704306 + Missense_Mutation SNP C C T rs151287405 TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:1704306C>T uc002ftm.3 - 5 550 c.382G>A c.(382-384)GAC>AAC p.D128N SMYD4_uc002ftn.1_5'UTR NM_052928 NP_443160 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 128 zinc ion binding skin(3)|kidney(2) 5 CTGTTAATGTCTTTAAGACAC 0.418 NaN 0 0 0 0.020292 0 14 137 P2RX1 5023 broad.mit.edu 37 17 3801112 3801112 + Missense_Mutation SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:3801112G>C uc002fww.2 - 12 1637 c.1196C>G c.(1195-1197)TCC>TGC p.S399C NM_002558 NP_002549 P51575 P2RX1_HUMAN purinergic receptor P2X1 399 Cytoplasmic (Potential). platelet activation integral to plasma membrane calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity ovary(1)|skin(1) 2 LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173) CGAGCATCAGGATGTCCTCAT 0.642 NaN 0 0 0 0.006214 0 8 17 ZZEF1 23140 broad.mit.edu 37 17 3954291 3954291 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:3954291G>A uc002fxe.2 - 36 5711 c.5647C>T c.(5647-5649)CGG>TGG p.R1883W ZZEF1_uc002fxh.2_Missense_Mutation_p.R197W|ZZEF1_uc002fxi.2_Missense_Mutation_p.R118W|ZZEF1_uc002fxj.1_Missense_Mutation_p.R496W NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 1883 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 TCACTGATCCGAATGGTTACC 0.532 NaN 0 0 0 0.016522 0 23 49 ZZEF1 23140 broad.mit.edu 37 17 3977490 3977490 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:3977490C>T uc002fxe.2 - 24 3703 c.3639G>A c.(3637-3639)CTG>CTA p.L1213L NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 1213 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GGCGTCCCATCAGCCGGGAGA 0.572 NaN 0 0 0 0.016723 0 13 197 NEURL4 84461 broad.mit.edu 37 17 7225069 7225069 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:7225069G>A uc002gga.1 - 18 2916 c.2909C>T c.(2908-2910)TCC>TTC p.S970F NEURL4_uc002gfy.1_5'Flank|GPS2_uc002gfz.1_5'Flank|NEURL4_uc002ggb.1_Missense_Mutation_p.S968F|NEURL4_uc002ggc.1_Missense_Mutation_p.S316F NM_032442 NP_115818 Q96JN8 NEUL4_HUMAN neuralized homolog 4 isoform 1 970 NHR 5. protein binding upper_aerodigestive_tract(1)|ovary(1) 2 CAGCCGCAGGGAACCTGCCCA 0.642 NaN 0 0 0 0.004482 0 9 48 TP53 7157 broad.mit.edu 37 17 7578272 7578272 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:7578272G>A uc002gim.2 - 6 771 c.577C>T c.(577-579)CAT>TAT p.H193Y TP53_uc002gig.1_Missense_Mutation_p.H193Y|TP53_uc002gih.2_Missense_Mutation_p.H193Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H61Y|TP53_uc010cng.1_Missense_Mutation_p.H61Y|TP53_uc002gii.1_Missense_Mutation_p.H61Y|TP53_uc010cnh.1_Missense_Mutation_p.H193Y|TP53_uc010cni.1_Missense_Mutation_p.H193Y|TP53_uc002gij.2_Missense_Mutation_p.H193Y|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100Y|TP53_uc002gio.2_Missense_Mutation_p.H61Y|TP53_uc010vug.1_Missense_Mutation_p.H154Y NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 193 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). H -> D (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.H193R(67)|p.H193L(29)|p.H193Y(26)|p.H193P(12)|p.0?(7)|p.H193D(7)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191fs*53(2)|p.H193H(2)|p.K164_P219del(1)|p.P191fs*15(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.A189fs*53(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) CGGATAAGATGCTGAGGAGGG 0.557 111 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 0.0333 0 18 41 SMCR7 125170 broad.mit.edu 37 17 18167607 18167607 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:18167607G>A uc002gst.2 + 4 1105 c.894G>A c.(892-894)GAG>GAA p.E298E SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Silent_p.E309E NM_139162 NP_631901 Q96C03 SMCR7_HUMAN Smith-Magenis syndrome chromosome region, 298 integral to membrane protein binding 0 all_neural(463;0.228) AACGCCTGGAGCTCACTGTGG 0.682 NaN 0 0 0 0.02938 0 7 92 SMCR7 125170 broad.mit.edu 37 17 18167950 18167950 + Missense_Mutation SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:18167950G>C uc002gst.2 + 4 1448 c.1237G>C c.(1237-1239)GAG>CAG p.E413Q SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Missense_Mutation_p.E424Q NM_139162 NP_631901 Q96C03 SMCR7_HUMAN Smith-Magenis syndrome chromosome region, 413 integral to membrane protein binding 0 all_neural(463;0.228) CGGCAGCCTGGAGCAGGCCAG 0.622 NaN 0 0 0 0.021553 0 6 55 TNFAIP1 7126 broad.mit.edu 37 17 26669328 26669328 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:26669328C>T uc002hax.1 + 6 593 c.574C>T c.(574-576)CGC>TGC p.R192C TNFAIP1_uc002hay.2_Missense_Mutation_p.R192C|TNFAIP1_uc010waf.1_Missense_Mutation_p.R88C NM_021137 NP_066960 Q13829 BACD2_HUMAN tumor necrosis factor, alpha-induced protein 1 192 apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity 0 all_lung(13;0.000294)|Lung NSC(42;0.000964) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) GCTCTCCCTGCGCTTCAACGG 0.547 NaN 0 0 0 0.004482 0 9 41 RNF135 84282 broad.mit.edu 37 17 29325811 29325811 + Missense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:29325811C>G uc002hfz.2 + 5 1037 c.901C>G c.(901-903)CAG>GAG p.Q301E RNF135_uc002hga.2_3'UTR|RNF135_uc010csm.2_3'UTR|RNF135_uc002hgb.2_3'UTR NM_032322 NP_115698 Q8IUD6 RN135_HUMAN ring finger protein 135 isoform 1 301 B30.2/SPRY. innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response cytosol protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding p.?(1) skin(2) 2 all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255) TTCTACCAGCCAGGTCTTATG 0.557 NaN 0 0 0 0.02938 0 7 72 ERBB2 2064 broad.mit.edu 37 17 37881392 37881392 + Missense_Mutation SNP A A G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 A G A A Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:37881392A>G uc002hso.2 + 21 2822 c.2584A>G c.(2584-2586)ACA>GCA p.T862A ERBB2_uc002hsm.2_Missense_Mutation_p.T832A|ERBB2_uc010cwa.2_Missense_Mutation_p.T847A|ERBB2_uc002hsp.2_Missense_Mutation_p.T665A|ERBB2_uc010cwb.2_Missense_Mutation_p.T862A|ERBB2_uc010wek.1_Missense_Mutation_p.T586A NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 862 Cytoplasmic (Potential).|Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.T862A(1) lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) TGTCAAAATTACAGACTTCGG 0.582 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) 0 0 0 0.028581 0 15 72 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:39261693A>T uc010wfp.1 + 1 53 c.53A>T c.(52-54)GAC>GTC p.D18V NM_001146041 NP_001139513 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament 0 TGCGGCCAAGACCTCTGTCAG 0.627 NaN 0 0 0 0.006214 0 9 43 PLEKHH3 79990 broad.mit.edu 37 17 40823447 40823447 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:40823447C>T uc002iau.2 - 8 1673 c.1206G>A c.(1204-1206)CAG>CAA p.Q402Q PLEKHH3_uc010cyl.1_RNA|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Silent_p.Q402Q NM_024927 NP_079203 Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H 402 signal transduction cytoskeleton large_intestine(1)|ovary(1) 2 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) ACAGCAGCTCCTGCCGTTGGC 0.677 NaN 0 0 0 0.021553 0 5 41 WFIKKN2 124857 broad.mit.edu 37 17 48917592 48917592 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:48917592G>A uc002isv.3 + 2 1637 c.943G>A c.(943-945)GAG>AAG p.E315K WFIKKN2_uc010dbu.2_Missense_Mutation_p.E222K NM_175575 NP_783165 Q8TEU8 WFKN2_HUMAN WFIKKN2 protein 315 extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) AGCCACCTCAGAGAGCAGCCC 0.657 NaN 0 0 0 0.006214 0 9 71 TEX2 55852 broad.mit.edu 37 17 62248557 62248557 + Silent SNP G G C rs112066687 TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:62248557G>C uc002jec.2 - 7 2747 c.2574C>G c.(2572-2574)CTC>CTG p.L858L TEX2_uc002jed.2_Silent_p.L865L|TEX2_uc002jee.2_Silent_p.L858L NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN testis expressed sequence 2 858 signal transduction|sphingolipid metabolic process integral to membrane ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) TAAAGTAGGGGAGCTAGAGGA 0.493 NaN 0 0 0 0.014758 0 5 38 DDX5 1655 broad.mit.edu 37 17 62502215 62502215 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:62502215C>T uc002jek.2 - 1 270 c.23G>A c.(22-24)CGA>CAA p.R8Q CCDC45_uc002jem.2_5'Flank|CCDC45_uc002jen.2_5'Flank|CCDC45_uc010wqb.1_5'Flank|DDX5_uc010deh.2_5'Flank|DDX5_uc002jej.2_5'UTR|DDX5_uc010wqa.1_Missense_Mutation_p.R8Q|DDX5_uc002jel.1_5'Flank NM_004396 NP_004387 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 8 cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity ovary(2)|lung(1) 3 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) GCCGCGGTCTCGGTCACTCGA 0.652 NaN T ETV4 prostate 0 0 0 0.014758 0 4 9 DNAH17 8632 broad.mit.edu 37 17 76547693 76547693 + Missense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr17:76547693C>G uc002jvv.1 - 12 1527 c.1421G>C c.(1420-1422)CGA>CCA p.R474P RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CAGAATTTCTCGCACCTCTTG 0.338 NaN 0 0 0 0.00308 0 7 95 TUBB6 84617 broad.mit.edu 37 18 12308761 12308761 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr18:12308761G>A uc002kqw.2 + 2 178 c.133G>A c.(133-135)GAG>AAG p.E45K TUBB6_uc002kqv.2_5'UTR|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Missense_Mutation_p.E45K|TUBB6_uc002kqy.2_Missense_Mutation_p.E45K NM_032525 NP_115914 Q9BUF5 TBB6_HUMAN tubulin, beta 6 45 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity 0 READ - Rectum adenocarcinoma(1;0.0649) GCTGCAGCTGGAGAGAATCAA 0.662 NaN 0 0 0 0.0333 0 16 76 FBXO15 201456 broad.mit.edu 37 18 71797676 71797676 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr18:71797676G>A uc002lle.2 - 4 658 c.322C>T c.(322-324)CCA>TCA p.P108S FBXO15_uc002llf.2_Missense_Mutation_p.P184S NM_152676 NP_689889 Q8NCQ5 FBX15_HUMAN F-box protein 15 isoform 1 108 ovary(2)|pancreas(1) 3 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) GTCTTAACTGGAAGGCCTGTG 0.433 NaN 0 0 0 0.004482 0 8 74 FSD1 79187 broad.mit.edu 37 19 4305978 4305978 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr19:4305978G>A uc002lzy.2 + 2 204 c.51G>A c.(49-51)GTG>GTA p.V17V FSD1_uc010xie.1_Intron|FSD1_uc010xif.1_Intron|FSD1_uc002lzz.2_Silent_p.V17V NM_024333 NP_077309 Q9BTV5 FSD1_HUMAN fibronectin type III and SPRY domain containing 17 Potential. cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) CACTGGCTGTGAAGAATGAAG 0.418 NaN 0 0 0 0.014323 0 19 58 C19orf57 79173 broad.mit.edu 37 19 14000230 14000230 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr19:14000230G>A uc002mxl.1 - 6 1498 c.1439C>T c.(1438-1440)TCT>TTT p.S480F C19orf57_uc002mxk.1_Missense_Mutation_p.S362F|C19orf57_uc002mxm.1_Intron NM_024323 NP_077299 Q0VDD7 CS057_HUMAN hypothetical protein LOC79173 480 multicellular organismal development protein binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(19;2e-21) CAGCACAACAGAGGCTTGCGG 0.607 NaN 0 0 0 0.010729 0 11 116 UNC13A 23025 broad.mit.edu 37 19 17746845 17746845 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr19:17746845G>A uc002nhd.2 - 26 3467 c.3467C>T c.(3466-3468)CCC>CTC p.P1156L NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 1068 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 GTTGAGGCAGGGAGTGTAGGA 0.448 NaN 0 0 0 0.021553 0 6 20 ZNF257 113835 broad.mit.edu 37 19 22271790 22271790 + Nonsense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr19:22271790C>G uc010ecx.2 + 4 1407 c.1238C>G c.(1237-1239)TCA>TGA p.S413* ZNF257_uc010ecy.2_Nonsense_Mutation_p.S381* NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 413 C2H2-type 9; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) AACTGGTCCTCAGCTCTTACT 0.398 NaN 0 0 0 0.006214 0 10 33 ZNF235 9310 broad.mit.edu 37 19 44792882 44792882 + Missense_Mutation SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr19:44792882G>C uc002oza.3 - 5 809 c.706C>G c.(706-708)CAT>GAT p.H236D ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.H232D|ZNF235_uc010xwx.1_Missense_Mutation_p.H150D NM_004234 NP_004225 Q14590 ZN235_HUMAN zinc finger protein 93 homolog 236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1) 3 Prostate(69;0.0352)|all_neural(266;0.116) CTATTGCTATGAACTTTATCT 0.358 NaN 0 0 0 0.00308 0 7 96 PIH1D1 55011 broad.mit.edu 37 19 49954759 49954759 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr19:49954759C>T uc002pns.2 - 1 357 c.73G>A c.(73-75)GAG>AAG p.E25K PIH1D1_uc010yap.1_Missense_Mutation_p.E25K|PIH1D1_uc010yaq.1_Missense_Mutation_p.E25K|ALDH16A1_uc002pnt.2_5'Flank|ALDH16A1_uc010yar.1_5'Flank|ALDH16A1_uc010yas.1_5'Flank|ALDH16A1_uc010yat.1_5'Flank NM_017916 NP_060386 Q9NWS0 PIHD1_HUMAN NOP17 25 box C/D snoRNP assembly pre-snoRNP complex 0 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244) AGCAGCTCCTCAAATCGCGCC 0.602 NaN 0 0 0 0.02938 0 6 90 ZNF615 284370 broad.mit.edu 37 19 52497183 52497183 + Silent SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr19:52497183G>C uc002pye.1 - 6 1438 c.1146C>G c.(1144-1146)ACC>ACG p.T382T ZNF615_uc002pyf.1_Silent_p.T393T|ZNF615_uc002pyg.1_Silent_p.T274T|ZNF615_uc002pyh.1_Silent_p.T393T|ZNF615_uc010epi.1_Silent_p.T389T|ZNF615_uc010ydg.1_Silent_p.T387T NM_198480 NP_940882 Q8N8J6 ZN615_HUMAN zinc finger protein 615 382 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) TGTTCTTCAAGGTGAAGCCTT 0.398 NaN 0 0 0 0.006214 0 10 93 C2orf77 129881 broad.mit.edu 37 2 170502423 170502423 + Silent SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr2:170502423G>C uc002ufe.2 - 9 1681 c.1587C>G c.(1585-1587)CTC>CTG p.L529L NM_001085447 NP_001078916 Q0VFZ6 CB077_HUMAN hypothetical protein LOC129881 529 0 TATAAAAAGGGAGCTGGACTC 0.408 NaN 0 0 0 0.016522 0 25 71 SPHKAP 80309 broad.mit.edu 37 2 228882660 228882660 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr2:228882660C>T uc002vpq.2 - 7 2957 c.2910G>A c.(2908-2910)ATG>ATA p.M970I SPHKAP_uc002vpp.2_Missense_Mutation_p.M970I|SPHKAP_uc010zlx.1_Missense_Mutation_p.M970I NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 970 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CGTTGGGTGTCATCAGAAACT 0.527 NaN 0 0 0 0.016723 0 13 98 HTR2B 3357 broad.mit.edu 37 2 231978477 231978477 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr2:231978477G>A uc002vro.2 - 3 1024 c.519C>T c.(517-519)TTC>TTT p.F173F PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Intron NM_000867 NP_000858 P41595 5HT2B_HUMAN 5-hydroxytryptamine (serotonin) receptor 2B 173 Helical; Name=4; (By similarity). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction cytoplasm|integral to membrane|plasma membrane calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity 0 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141) Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508) TAATCTTGATGAATGCTGTAG 0.428 NaN 0 0 0 0.016723 0 12 229 EIF4E2 9470 broad.mit.edu 37 2 233421234 233421234 + Missense_Mutation SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr2:233421234G>C uc002vta.2 + 2 207 c.129G>C c.(127-129)AAG>AAC p.K43N EIF4E2_uc002vtb.1_Missense_Mutation_p.K43N|EIF4E2_uc002vsz.2_Missense_Mutation_p.K43N|EIF4E2_uc010zmi.1_Missense_Mutation_p.K43N NM_004846 NP_004837 O60573 IF4E2_HUMAN eukaryotic translation initiation factor 4E 43 regulation of translation cytoplasm|mRNA cap binding complex RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding 0 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;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GCAGTAGCAAGAGAAAGGTGA 0.408 NaN 0 0 0 0.009096 0 4 23 GBX2 2637 broad.mit.edu 37 2 237074842 237074842 + Missense_Mutation SNP G G T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr2:237074842G>T uc002vvw.1 - 2 800 c.762C>A c.(760-762)TTC>TTA p.F254L GBX2_uc010zng.1_3'UTR NM_001485 NP_001476 P52951 GBX2_HUMAN gastrulation brain homeo box 2 254 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179) Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471) GCTCGCTGGTGAAGGCAGTCC 0.672 NaN 1 0 0.000274275 0.004482 0.000280767 8 61 NINL 22981 broad.mit.edu 37 20 25472060 25472060 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr20:25472060G>A uc002wux.1 - 11 1486 c.1412C>T c.(1411-1413)GCG>GTG p.A471V NINL_uc010gdn.1_Missense_Mutation_p.A471V|NINL_uc010gdo.1_Missense_Mutation_p.A254V|NINL_uc010ztf.1_Missense_Mutation_p.A487V NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 471 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 CCACTCCAGCGCGGCCCTCTG 0.692 NaN 0 0 0 0.010729 0 10 76 ZNF334 55713 broad.mit.edu 37 20 45140739 45140739 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr20:45140739C>T uc002xsc.2 - 2 187 c.3G>A c.(1-3)ATG>ATA p.M1I ZNF334_uc002xsd.2_5'UTR|ZNF334_uc010ghl.2_5'UTR NM_018102 NP_060572 Q9HCZ1 ZN334_HUMAN zinc finger protein 334 isoform a 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) TTTTCATTTTCATGTTCTCTT 0.403 NaN 0 0 0 0.004482 0 8 71 LSS 4047 broad.mit.edu 37 21 47614422 47614422 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr21:47614422C>T uc002zij.2 - 20 2050 c.1971G>A c.(1969-1971)ATG>ATA p.M657I LSS_uc011afv.1_Missense_Mutation_p.M646I|LSS_uc002zil.2_Missense_Mutation_p.M657I|LSS_uc002zik.2_Missense_Mutation_p.M577I NM_001001438 NP_001001438 P48449 ERG7_HUMAN lanosterol synthase isoform 1 657 cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity 0 Breast(49;0.214) CCATCAGCCCCATCATGGCCC 0.632 NaN 0 0 0 0.009096 0 4 34 ZNF280A 129025 broad.mit.edu 37 22 22869055 22869055 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr22:22869055G>A uc002zwe.2 - 2 1153 c.900C>T c.(898-900)TGC>TGT p.C300C LOC96610_uc011aim.1_Intron NM_080740 NP_542778 P59817 Z280A_HUMAN zinc finger protein 280A 300 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) CGCAGCTGAGGCATTTAAAGG 0.413 NaN 0 0 0 0.013726 0 35 179 NIPSNAP1 8508 broad.mit.edu 37 22 29966488 29966488 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr22:29966488G>A uc003afx.3 - 2 205 c.132C>T c.(130-132)TTC>TTT p.F44F NIPSNAP1_uc011akp.1_Silent_p.F24F NM_003634 NP_003625 Q9BPW8 NIPS1_HUMAN nipsnap homolog 1 44 p.?(1) skin(1) 1 AGAGGGAGCGGAACCAGCTGC 0.552 NaN 0 0 0 0.014758 0 4 32 SLC5A1 6523 broad.mit.edu 37 22 32506039 32506039 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr22:32506039C>T uc003amc.2 + 15 2066 c.1834C>T c.(1834-1836)CTA>TTA p.L612L SLC5A1_uc011alz.1_Silent_p.L485L NM_000343 NP_000334 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose 612 Cytoplasmic (Potential). carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding skin(1) 1 ATTTTGTGGGCTAGAGCAGCA 0.468 NaN 0 0 0 0.028581 0 15 74 EFCAB6 64800 broad.mit.edu 37 22 44083357 44083357 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr22:44083357C>T uc003bdy.1 - 11 1351 c.1136G>A c.(1135-1137)AGA>AAA p.R379K EFCAB6_uc003bdz.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.1_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.1_Intron|EFCAB6_uc003bea.1_Missense_Mutation_p.R376K NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) ATACCTATTTCTTTTTGTCAG 0.308 NaN 0 0 0 0.004482 0 9 31 LDOC1L 84247 broad.mit.edu 37 22 44892894 44892894 + Silent SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr22:44892894G>C uc003beu.1 - 2 880 c.543C>G c.(541-543)CTC>CTG p.L181L NM_032287 NP_115663 Q6ICC9 LDOCL_HUMAN leucine zipper, down-regulated in cancer 1-like 181 ovary(1) 1 Ovarian(80;0.024)|all_neural(38;0.0416) LUAD - Lung adenocarcinoma(64;0.0161) GCGCATGCCGGAGCGGAGACT 0.622 NaN 0 0 0 0.006122 0 19 29 C3orf20 84077 broad.mit.edu 37 3 14756871 14756871 + Nonsense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr3:14756871G>A uc003byy.2 + 9 1793 c.1389G>A c.(1387-1389)TGG>TGA p.W463* C3orf20_uc003byz.2_Nonsense_Mutation_p.W341*|C3orf20_uc003bza.2_Nonsense_Mutation_p.W341*|C3orf20_uc003bzb.1_5'UTR NM_032137 NP_115513 Q8ND61 CC020_HUMAN hypothetical protein LOC84077 463 cytoplasm|integral to membrane p.W463*(1) ovary(3)|skin(1) 4 TCCACAAGTGGAGCTGGACTT 0.537 NaN 0 0 0 0.02938 0 7 68 TMPPE 643853 broad.mit.edu 37 3 33134911 33134911 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr3:33134911G>A uc003cfk.2 - 2 968 c.777C>T c.(775-777)GTC>GTT p.V259V GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Silent_p.V122V NM_001039770 NP_001034859 Q6ZT21 TMPPE_HUMAN transmembrane protein with 259 integral to membrane metal ion binding 0 CCAGAGGAGCGACAGCCGTCC 0.537 NaN 0 0 0 0.030593 0 24 86 SCN5A 6331 broad.mit.edu 37 3 38591869 38591869 + Silent SNP A A G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr3:38591869A>G uc003cio.2 - 28 6188 c.5994T>C c.(5992-5994)AGT>AGC p.S1998S SCN5A_uc003cin.2_Silent_p.S1997S|SCN5A_uc003cil.3_Silent_p.S1998S|SCN5A_uc010hhi.2_Silent_p.S1980S|SCN5A_uc010hhk.2_Silent_p.S1965S|SCN5A_uc011ayr.1_Silent_p.S1944S NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 1998 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CGAGATCTTCACTGTGGCTGT 0.597 NaN 0 0 0 0.0333 0 15 91 PHLDB2 90102 broad.mit.edu 37 3 111604194 111604194 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr3:111604194G>A uc010hqa.2 + 2 1681 c.1270G>A c.(1270-1272)GAC>AAC p.D424N PHLDB2_uc003dyc.2_Missense_Mutation_p.D451N|PHLDB2_uc003dyd.2_Missense_Mutation_p.D424N|PHLDB2_uc003dyg.2_Missense_Mutation_p.D424N|PHLDB2_uc003dyh.2_Missense_Mutation_p.D424N|PHLDB2_uc003dye.3_Missense_Mutation_p.D424N|PHLDB2_uc003dyf.3_Missense_Mutation_p.D424N NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 424 cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 AGGACGTGATGACCTGATGGA 0.522 NaN 0 0 0 0.008291 0 10 113 PARP9 83666 broad.mit.edu 37 3 122259634 122259634 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr3:122259634G>A uc010hri.2 - 8 1700 c.1555C>T c.(1555-1557)CTG>TTG p.L519L PARP9_uc003eff.3_Silent_p.L484L|PARP9_uc011bjs.1_Silent_p.L484L|PARP9_uc003efg.2_Silent_p.L64L|PARP9_uc003efi.2_Silent_p.L484L|PARP9_uc003efh.2_Silent_p.L519L|PARP9_uc003efj.2_Silent_p.L484L NM_001146102 NP_001139574 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 519 cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1)|pancreas(1)|prostate(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0519) AATCCCATCAGATTGATGGCA 0.438 NaN 0 0 0 0.004482 0 9 161 COL6A6 131873 broad.mit.edu 37 3 130293317 130293317 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr3:130293317G>A uc010htl.2 + 7 3526 c.3495G>A c.(3493-3495)AAG>AAA p.K1165K NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1165 Nonhelical region.|VWFA 6. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 ATGAACTGAAGAAGGTCAATA 0.463 NaN 0 0 0 0.028581 0 17 61 SRPRB 58477 broad.mit.edu 37 3 133524732 133524732 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr3:133524732G>A uc003epx.1 + 1 56 c.40G>A c.(40-42)GGT>AGT p.G14S NM_021203 NP_067026 Q9Y5M8 SRPRB_HUMAN signal recognition particle receptor, beta 14 endoplasmic reticulum membrane|integral to membrane GTP binding|protein binding|receptor activity ovary(1) 1 AGATGGCGGCGGTGCCGGGGG 0.672 NaN 0 0 0 0.010504 0 21 61 PLD1 5337 broad.mit.edu 37 3 171404524 171404524 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr3:171404524G>A uc003fhs.2 - 16 1934 c.1818C>T c.(1816-1818)CTC>CTT p.L606L PLD1_uc003fht.2_Intron NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 606 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) ACGGGTGAAAGAGTTTGAAGT 0.368 NaN 0 0 0 0.007413 0 17 185 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr3:178936082G>A uc003fjk.2 + 10 1781 c.1624G>A c.(1624-1626)GAA>AAA p.E542K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 542 PI3K helical. E -> V (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).|E -> Q (in cancer). 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.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1) 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) TCCTCTCTCTGAAATCACTGA 0.333 E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 0 0 0 0.02938 0 6 87 FXR1 8087 broad.mit.edu 37 3 180675620 180675620 + Silent SNP A A G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr3:180675620A>G uc003fkq.2 + 10 916 c.894A>G c.(892-894)GGA>GGG p.G298G FXR1_uc003fkp.2_Silent_p.G213G|FXR1_uc003fkr.2_Silent_p.G298G|FXR1_uc011bqj.1_Silent_p.G212G|FXR1_uc003fks.2_Silent_p.G212G|FXR1_uc011bqk.1_Silent_p.G249G|FXR1_uc011bql.1_Silent_p.G285G NM_005087 NP_005078 P51114 FXR1_HUMAN fragile X mental retardation-related protein 1 298 KH 2. apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(1) 1 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) AAGTAATTGGAAAAAATGGCA 0.343 NaN 0 0 0 0.008291 0 10 76 PTPN13 5783 broad.mit.edu 37 4 87671842 87671842 + Missense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr4:87671842C>G uc003hpz.2 + 18 3350 c.2870C>G c.(2869-2871)GCT>GGT p.A957G PTPN13_uc003hpy.2_Missense_Mutation_p.A957G|PTPN13_uc003hqa.2_Missense_Mutation_p.A957G|PTPN13_uc003hqb.2_Intron NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 957 cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) AATGACAAAGCTTCATGGGAG 0.423 NaN 0 0 0 0.008291 0 11 32 SLC25A31 83447 broad.mit.edu 37 4 128651894 128651894 + Missense_Mutation SNP G G T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr4:128651894G>T uc003ifl.2 + 1 340 c.194G>T c.(193-195)GGC>GTC p.G65V NM_031291 NP_112581 Q9H0C2 ADT4_HUMAN solute carrier family 25 (mitochondrial carrier; 65 Solcar 1. transmembrane transport cilium|flagellum|integral to membrane|mitochondrial inner membrane binding|transporter activity 0 CGGTACAAAGGCATGGTGGAC 0.677 NaN 1 0 0.000602214 0.014758 0.000609258 5 33 ADAM29 11086 broad.mit.edu 37 4 175899002 175899002 + Nonsense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr4:175899002C>T uc003iuc.2 + 5 2996 c.2326C>T c.(2326-2328)CAG>TAG p.Q776* ADAM29_uc003iud.2_Nonsense_Mutation_p.Q776*|ADAM29_uc010irr.2_Nonsense_Mutation_p.Q776*|ADAM29_uc011cki.1_Nonsense_Mutation_p.Q776* NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 776 Cytoplasmic (Potential).|9 X 9 AA approximate repeats.|5. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GATGCCTTCTCAGAGTCAACC 0.567 NaN 0 0 0 0.020292 0 14 115 PRDM9 56979 broad.mit.edu 37 5 23526534 23526534 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr5:23526534G>A uc003jgo.2 + 11 1519 c.1337G>A c.(1336-1338)AGC>AAC p.S446N NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 446 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 GATCCACACAGCCGTAATGAC 0.473 NaN HNSCC(3;0.000094) 0 0 0 0.01441 0 69 67 PDZD2 23037 broad.mit.edu 37 5 32091004 32091004 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr5:32091004G>A uc003jhl.2 + 20 7838 c.7450G>A c.(7450-7452)GAG>AAG p.E2484K PDZD2_uc003jhm.2_Missense_Mutation_p.E2484K NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 2484 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 CAAGCTCCAGGAGCTGAGAGC 0.592 NaN 0 0 0 0.010729 0 12 171 SPINK5 11005 broad.mit.edu 37 5 147481356 147481356 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr5:147481356G>A uc003lox.2 + 15 1388 c.1315G>A c.(1315-1317)GAA>AAA p.E439K SPINK5_uc010jgs.1_Missense_Mutation_p.E411K|SPINK5_uc010jgr.2_Missense_Mutation_p.E420K|SPINK5_uc003low.2_Missense_Mutation_p.E439K|SPINK5_uc003loy.2_Missense_Mutation_p.E439K NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 isoform 439 Kazal-like 7. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity skin(2)|ovary(1)|breast(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTGTGTAGTGAATACCGCAA 0.428 NaN 0 0 0 0.004482 0 8 76 TBC1D9B 23061 broad.mit.edu 37 5 179290667 179290667 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr5:179290667G>A uc003mlh.2 - 22 3571 c.3534C>T c.(3532-3534)GGC>GGT p.G1178G TBC1D9B_uc003mli.2_Silent_p.G1161G|TBC1D9B_uc003mlj.2_Silent_p.G1160G|TBC1D9B_uc003mlf.2_Silent_p.G252G|TBC1D9B_uc003mlg.2_Silent_p.G337G|TBC1D9B_uc011dgv.1_Silent_p.G337G NM_198868 NP_942568 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 1178 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(1)|skin(1) 2 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGGCCTCCCCGCCCACCAGCA 0.627 NaN 0 0 0 0.010729 0 12 54 PHACTR1 221692 broad.mit.edu 37 6 13273104 13273104 + Missense_Mutation SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr6:13273104G>C uc010jpc.2 + 11 1736 c.1404G>C c.(1402-1404)CAG>CAC p.Q468H PHACTR1_uc003nag.1_Missense_Mutation_p.Q468H|PHACTR1_uc003nah.1_Missense_Mutation_p.Q468H|TBC1D7_uc003naj.2_Intron NM_030948 NP_112210 Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 468 RPEL 3. cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity 0 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) GGCTGAGCCAGAGGCCAACTG 0.458 NaN 0 0 0 0.010504 0 21 289 HIST1H4D 8360 broad.mit.edu 37 6 26188994 26188994 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr6:26188994C>T uc003ngu.2 - 1 311 c.311G>A c.(310-312)TGA>TAA p.*104* NM_003539 NP_003530 P62805 H4_HUMAN histone cluster 1, H4d 104 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.196) GAGGTAAGCTCAGCCGCCGAA 0.537 NaN 0 0 0 0.004482 0 8 61 NOTCH4 4855 broad.mit.edu 37 6 32163377 32163377 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr6:32163377G>A uc003obb.2 - 30 5988 c.5849C>T c.(5848-5850)CCC>CTC p.P1950L GPSM3_uc003oax.3_5'Flank|GPSM3_uc003oay.3_5'Flank|GPSM3_uc003oaz.2_5'Flank|NOTCH4_uc011dpt.1_3'UTR|NOTCH4_uc003oba.2_Missense_Mutation_p.P610L|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1950 Cytoplasmic (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 CCAATCACAGGGCCAGTCATC 0.647 NaN 0 0 0 0.013537 0 13 111 PSMB8 5696 broad.mit.edu 37 6 32810816 32810816 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr6:32810816C>T uc003oce.2 - 2 241 c.198G>A c.(196-198)CAG>CAA p.Q66Q PSMB8_uc003ocf.2_Silent_p.Q62Q|PSMB8_uc011dqh.1_Silent_p.Q66Q NM_148919 NP_683720 P28062 PSB8_HUMAN proteasome beta 8 subunit isoform E2 proprotein 66 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|interspecies interaction between organisms|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|type I interferon-mediated signaling pathway|viral reproduction cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity skin(1) 1 CCATCTCAATCTGAACGTTCC 0.507 NaN 0 0 0 0.004482 0 7 69 TDRD6 221400 broad.mit.edu 37 6 46657366 46657366 + Missense_Mutation SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr6:46657366G>C uc003oyj.2 + 1 1501 c.1501G>C c.(1501-1503)GAG>CAG p.E501Q TDRD6_uc010jze.2_Missense_Mutation_p.E495Q NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 501 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) AAATCCTTCTGAGTTTTGGAT 0.413 NaN 0 0 0 0.036044 0 45 125 RTN4IP1 84816 broad.mit.edu 37 6 107067168 107067168 + Missense_Mutation SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr6:107067168G>C uc003prj.2 - 4 1006 c.529C>G c.(529-531)CAA>GAA p.Q177E RTN4IP1_uc010kdd.2_Missense_Mutation_p.Q177E|RTN4IP1_uc003prk.2_Missense_Mutation_p.Q77E NM_032730 NP_116119 Q8WWV3 RT4I1_HUMAN reticulon 4 interacting protein 1 precursor 177 mitochondrion oxidoreductase activity|zinc ion binding 0 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144) Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394) all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144) GAGGCAGCTTGAGTATGAGTG 0.413 NaN 0 0 0 0.008291 0 10 78 GPRC6A 222545 broad.mit.edu 37 6 117128203 117128203 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr6:117128203C>T uc003pxj.1 - 3 687 c.665G>A c.(664-666)CGA>CAA p.R222Q GPRC6A_uc003pxk.1_Missense_Mutation_p.R222Q|GPRC6A_uc003pxl.1_Missense_Mutation_p.R222Q NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 222 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) AAGAGCCAATCGTCCATAGTC 0.408 NaN 0 0 0 0.016723 0 13 194 UST 10090 broad.mit.edu 37 6 149262491 149262491 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr6:149262491G>A uc003qmg.2 + 3 664 c.368G>A c.(367-369)AGA>AAA p.R123K NM_005715 NP_005706 Q9Y2C2 UST_HUMAN uronyl-2-sulfotransferase 123 Lumenal (Potential). protein sulfation Golgi membrane|integral to membrane sulfotransferase activity ovary(2) 2 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138) TTGCTTCTGAGAATCTTGTCG 0.438 NaN 0 0 0 0.004482 0 9 159 FKBP14 55033 broad.mit.edu 37 7 30066007 30066007 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr7:30066007G>A uc003tal.1 - 1 262 c.118C>T c.(118-120)CGC>TGC p.R40C PLEKHA8_uc003tao.2_5'Flank|PLEKHA8_uc003tap.1_5'Flank|FKBP14_uc010kvq.1_RNA|PLEKHA8_uc003tam.1_5'Flank|PLEKHA8_uc003tan.2_5'Flank NM_017946 NP_060416 Q9NWM8 FKB14_HUMAN FK506 binding protein 14 precursor 40 protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 TTGGTCTTGCGATGGCAGATG 0.468 NaN 0 0 0 0.004482 0 8 119 AQP1 358 broad.mit.edu 37 7 30962182 30962182 + Missense_Mutation SNP G G T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr7:30962182G>T uc003tbv.1 + 3 610 c.553G>T c.(553-555)GAC>TAC p.D185Y AQP1_uc011kac.1_Missense_Mutation_p.D245Y|AQP1_uc010kwf.1_Missense_Mutation_p.D102Y|AQP1_uc010kwg.1_Missense_Mutation_p.D66Y|AQP1_uc010kwh.1_Missense_Mutation_p.D134Y NM_198098 NP_932766 P29972 AQP1_HUMAN aquaporin 1 185 Extracellular. ammonium transport|cell volume homeostasis|cellular hyperosmotic response|cellular response to cAMP|cellular response to copper ion|cellular response to dexamethasone stimulus|cellular response to hydrogen peroxide|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to mercury ion|cellular response to nitric oxide|cellular response to retinoic acid|cellular response to salt stress|cellular response to UV|cerebrospinal fluid secretion|cGMP biosynthetic process|establishment or maintenance of actin cytoskeleton polarity|lateral ventricle development|maintenance of symbiont-containing vacuole via substance secreted by host|negative regulation of apoptosis|odontogenesis|pancreatic juice secretion|positive regulation of angiogenesis|positive regulation of fibroblast proliferation|positive regulation of saliva secretion|renal water transport|response to drug|transepithelial water transport apical plasma membrane|basal plasma membrane|brush border membrane|cytoplasm|integral to plasma membrane|nuclear membrane|sarcolemma|symbiont-containing vacuole ammonia transmembrane transporter activity|carbon dioxide transmembrane transporter activity|glycerol transmembrane transporter activity|intracellular cGMP activated cation channel activity|nitric oxide transmembrane transporter activity|potassium channel activity|potassium ion transmembrane transporter activity|protein binding|water channel activity 0 Melanoma(862;0.16) Acetazolamide(DB00819) ctcACAGATTGACTACACTGG 0.313 NaN 1 0 5.26018e-13 0.012319 5.54885e-13 19 307 AMPH 273 broad.mit.edu 37 7 38431407 38431407 + Missense_Mutation SNP T T C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr7:38431407T>C uc003tgu.2 - 19 1889 c.1820A>G c.(1819-1821)GAC>GGC p.D607G AMPH_uc003tgv.2_Missense_Mutation_p.D565G|AMPH_uc003tgt.2_Missense_Mutation_p.D492G|AMPH_uc003tgw.1_Missense_Mutation_p.D630G|AMPH_uc010kxl.1_RNA NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 607 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 TGCTAGCTGGTCAGCAGCCCC 0.547 NaN 0 0 0 0.02938 0 5 45 RABGEF1 27342 broad.mit.edu 37 7 66240337 66240337 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr7:66240337G>A uc011kee.1 + 3 509 c.345G>A c.(343-345)GTG>GTA p.V115V RABGEF1_uc003tvf.2_5'UTR|RABGEF1_uc003tvg.2_5'UTR|RABGEF1_uc010lag.2_Silent_p.V101V|RABGEF1_uc003tvh.2_Silent_p.V101V|RABGEF1_uc003tvi.2_5'UTR NM_014504 NP_055319 Q9UJ41 RABX5_HUMAN RAB guanine nucleotide exchange factor (GEF) 1 279 endocytosis|protein transport early endosome|recycling endosome DNA binding|protein binding|zinc ion binding ovary(1) 1 TTACCACAGTGAAGAAATTCT 0.468 NaN 0 0 0 0.021553 0 6 66 TRIP6 7205 broad.mit.edu 37 7 100468309 100468309 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr7:100468309C>T uc003uww.2 + 6 1113 c.943C>T c.(943-945)CGC>TGC p.R315C TRIP6_uc010lhk.1_RNA NM_003302 NP_003293 Q15654 TRIP6_HUMAN thyroid receptor-interacting protein 6 315 LIM zinc-binding 1. focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent cytoplasm|cytoskeleton|focal adhesion|nucleus identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding central_nervous_system(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) GGCCCAGCTTCGCGGCCAGCA 0.617 NaN 0 0 0 0.02938 0 6 44 AKR1B15 441282 broad.mit.edu 37 7 134260673 134260673 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr7:134260673G>A uc011kpr.1 + 8 1036 c.737G>A c.(736-738)AGA>AAA p.R246K AKR1B15_uc011kps.1_Missense_Mutation_p.R218K NM_001080538 NP_001074007 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 246 oxidoreductase activity ovary(1) 1 TCTCCGGATAGACCTTGGTGA 0.478 NaN 0 0 0 0.009096 0 4 26 CLCN1 1180 broad.mit.edu 37 7 143018480 143018480 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr7:143018480G>A uc003wcr.1 + 4 543 c.456G>A c.(454-456)CAG>CAA p.Q152Q CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_RNA|CLCN1_uc010lox.1_RNA|CLCN1_uc010loy.1_5'UTR NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 152 Helical; (By similarity). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) CCTACGCGCAGATGCAGCCCA 0.617 NaN 0 0 0 0.021553 0 6 46 FAM115C 285966 broad.mit.edu 37 7 143421796 143421796 + Silent SNP G G C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr7:143421796G>C uc003wdf.2 + 7 2594 c.2511G>C c.(2509-2511)CTG>CTC p.L837L FAM115C_uc003wdg.2_Silent_p.L556L|FAM115C_uc011ktk.1_Silent_p.L837L|FAM115C_uc003wdh.2_Silent_p.L837L|FAM115C_uc011ktm.1_Silent_p.L837L|uc011ktn.1_Intron|uc011kto.1_Intron|uc011ktp.1_Intron|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron|LOC154761_uc003wdj.1_Intron|FAM115C_uc011ktt.1_Intron|FAM115C_uc003wdi.1_Intron NM_001130025 NP_001123497 A6NFQ2 F115C_HUMAN hypothetical protein LOC285966 isoform A Error:Variant_position_missing_in_A6NFQ2_after_alignment 0 TACAGGTACTGAGCAGAAATT 0.572 NaN 0 0 0 0.021553 0 4 35 DPP6 1804 broad.mit.edu 37 7 154680984 154680984 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr7:154680984G>A uc003wlk.2 + 24 2436 c.2307G>A c.(2305-2307)ATG>ATA p.M769I DPP6_uc003wli.2_Missense_Mutation_p.M705I|DPP6_uc003wlm.2_Missense_Mutation_p.M707I|DPP6_uc011kvq.1_Missense_Mutation_p.M662I NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 769 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) ATGTGCAGATGACCAAGGTAG 0.537 NaN 0 0 0 0.009096 0 4 24 PBK 55872 broad.mit.edu 37 8 27667830 27667830 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr8:27667830C>T uc003xgi.2 - 8 1162 c.961G>A c.(961-963)GAT>AAT p.D321N ESCO2_uc010luy.1_Intron|PBK_uc011lap.1_Missense_Mutation_p.D332N NM_018492 NP_060962 Q96KB5 TOPK_HUMAN PDZ binding kinase 321 PDZ-interaction.|Protein kinase. mitosis ATP binding|protein binding|protein serine/threonine kinase activity 0 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141) CACTAGACATCTGTTTCCAGA 0.358 NaN 0 0 0 0.02938 0 7 106 POP1 10940 broad.mit.edu 37 8 99148933 99148933 + Missense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr8:99148933C>G uc003yij.3 + 8 1335 c.1235C>G c.(1234-1236)TCT>TGT p.S412C POP1_uc011lgv.1_Missense_Mutation_p.S412C|POP1_uc003yik.2_Missense_Mutation_p.S412C NM_001145860 NP_001139332 Q99575 POP1_HUMAN processing of precursor 1 412 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity ovary(1)|breast(1) 2 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) CTACCATACTCTTGGATCTCT 0.358 NaN 0 0 0 0.00308 0 8 67 FER1L6 654463 broad.mit.edu 37 8 125113410 125113410 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr8:125113410C>T uc003yqw.2 + 38 5162 c.4956C>T c.(4954-4956)AAC>AAT p.N1652N uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 1652 C2 6.|Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GAGAGGGCAACTTCAACTGGC 0.433 NaN 0 0 0 0.006214 0 9 79 ST3GAL1 6482 broad.mit.edu 37 8 134477108 134477108 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr8:134477108C>T uc003yuk.2 - 7 1425 c.596G>A c.(595-597)GGA>GAA p.G199E ST3GAL1_uc003yum.2_Missense_Mutation_p.G199E NM_173344 NP_775479 Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 199 Lumenal (Potential). protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity 0 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) GACATTATCTCCCAGCTCCCG 0.582 NaN 0 0 0 0.024245 0 14 145 UBAP2 55833 broad.mit.edu 37 9 33998823 33998823 + Missense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr9:33998823C>G uc003ztq.1 - 3 252 c.139G>C c.(139-141)GAT>CAT p.D47H UBAP2_uc011loc.1_Missense_Mutation_p.D9H|UBAP2_uc011lod.1_5'UTR|UBAP2_uc011loe.1_Missense_Mutation_p.D9H|UBAP2_uc011lof.1_Missense_Mutation_p.D9H|UBAP2_uc011log.1_Missense_Mutation_p.D46H|UBAP2_uc003ztr.2_Missense_Mutation_p.D9H NM_018449 NP_060919 Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 47 ovary(3) 3 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) TCATTCTTATCAAAGATCACT 0.328 NaN 0 0 0 0.0333 0 16 93 VCP 7415 broad.mit.edu 37 9 35062058 35062058 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr9:35062058C>T uc003zvy.2 - 9 1412 c.1023G>A c.(1021-1023)GTG>GTA p.V341V VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Silent_p.V10V|VCP_uc010mki.1_Silent_p.V296V NM_007126 NP_009057 P55072 TERA_HUMAN valosin-containing protein 341 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding upper_aerodigestive_tract(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CCATAACAATCACATGTGCCC 0.527 NaN 0 0 0 0.016723 0 14 85 TLN1 7094 broad.mit.edu 37 9 35716479 35716479 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr9:35716479C>T uc003zxt.2 - 20 2887 c.2533G>A c.(2533-2535)GAG>AAG p.E845K NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 845 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CTTTCCCCCTCAGCATCAGCC 0.572 NaN 0 0 0 0.004482 0 9 138 TRPM3 80036 broad.mit.edu 37 9 73235278 73235278 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr9:73235278C>T uc004aid.2 - 15 2051 c.1807G>A c.(1807-1809)GAT>AAT p.D603N TRPM3_uc004ahu.2_Missense_Mutation_p.D433N|TRPM3_uc004ahv.2_Missense_Mutation_p.D405N|TRPM3_uc004ahw.2_Missense_Mutation_p.D475N|TRPM3_uc004ahx.2_Missense_Mutation_p.D462N|TRPM3_uc004ahy.2_Missense_Mutation_p.D465N|TRPM3_uc004ahz.2_Missense_Mutation_p.D452N|TRPM3_uc004aia.2_Missense_Mutation_p.D450N|TRPM3_uc004aib.2_Missense_Mutation_p.D440N|TRPM3_uc004aic.2_Missense_Mutation_p.D603N NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 628 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 AAGGGAATATCATCCTGTAAT 0.318 NaN 0 0 0 0.010504 0 20 209 FLJ46321 389763 broad.mit.edu 37 9 84606383 84606383 + Missense_Mutation SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr9:84606383C>T uc004amn.2 + 4 1045 c.998C>T c.(997-999)TCT>TTT p.S333F NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 333 integral to membrane 0 CTAGGTGGCTCTGGTGGGTCA 0.483 NaN 0 0 0 0.008291 0 9 161 TTC16 158248 broad.mit.edu 37 9 130479144 130479144 + Missense_Mutation SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr9:130479144G>A uc004brq.1 + 2 107 c.40G>A c.(40-42)GGC>AGC p.G14S PTRH1_uc004brm.2_5'Flank|PTRH1_uc004bro.2_5'Flank|PTRH1_uc010mxm.2_5'UTR|PTRH1_uc011mah.1_5'UTR|TTC16_uc011mai.1_Missense_Mutation_p.G14S|TTC16_uc004brr.1_5'Flank NM_144965 NP_659402 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 14 binding 0 GGTTGACCAGGGCCCCTCACG 0.602 NaN 0 0 0 0.00308 0 7 43 COL5A1 1289 broad.mit.edu 37 9 137655583 137655583 + Silent SNP C C T TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr9:137655583C>T uc004cfe.2 + 20 2416 c.2034C>T c.(2032-2034)CCC>CCT p.P678P NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 678 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) CTGGGGAGCCCGTAAGTCTGT 0.587 NaN 0 0 0 0.00308 0 8 78 ZBED1 9189 broad.mit.edu 37 X 2407457 2407457 + Missense_Mutation SNP T T C TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chrX:2407457T>C uc004cqg.2 - 2 1505 c.1304A>G c.(1303-1305)AAC>AGC p.N435S DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.N435S NM_004729 NP_004720 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 435 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity 0 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) CTCCTTGATGTTGAGCGTGGT 0.587 NaN 0 0 0 0.016723 0 13 88 MAGIX 79917 broad.mit.edu 37 X 49022469 49022469 + Missense_Mutation SNP C C G TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chrX:49022469C>G uc010nin.1 + 6 783 c.736C>G c.(736-738)CGC>GGC p.R246G MAGIX_uc010nio.1_Missense_Mutation_p.R170G|MAGIX_uc004dmt.2_Missense_Mutation_p.R165G|MAGIX_uc004dmu.2_Missense_Mutation_p.R187G|MAGIX_uc004dmw.2_Missense_Mutation_p.R174G NM_024859 NP_079135 Q9H6Y5 MAGIX_HUMAN MAGI family member, X-linked isoform a 246 0 AACGGGGTCTCGCAGCAGCAG 0.637 NaN 0 0 0 0.014758 0 5 34 FLG2 388698 broad.mit.edu 37 1 152324558 152324559 + Frame_Shift_Del DEL TG TG - rs140875805 byFrequency TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8ca635e2-a609-46a9-ab15-12ddb5233a68 5c5ecfa1-e4bd-492c-bfff-5e4667637469 g.chr1:152324558_152324559delTG uc001ezw.3 - 3 5776_5777 c.5703_5704delCA c.(5701-5706)CACAGCfs p.H1901fs uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1901_1902 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCTTGGCTGTGTGTGTGTC 0.515 NaN NaN NaN NaN NaN NaN 7 468 --- ---