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 ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut SCNN1D 6339 broad.mit.edu 37 1 1222975 1222975 + Missense_Mutation SNP C C G rs147342518 TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:1222975C>G uc001adu.1 + 9 1530 c.906C>G c.(904-906)CAC>CAG p.H302Q SCNN1D_uc001adt.1_Missense_Mutation_p.H466Q|SCNN1D_uc001adw.2_Missense_Mutation_p.H368Q|SCNN1D_uc001adx.2_Missense_Mutation_p.T66R|SCNN1D_uc001adv.2_Missense_Mutation_p.H302Q NM_002978 NP_002969 sodium channel, nonvoltage-gated 1, delta 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) GCATCACCCACGGTGGGTGCC 0.682 NA 12 29 0 0 0.000978 0 0 KIAA1751 85452 broad.mit.edu 37 1 1902213 1902213 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:1902213C>A uc001aim.1 - 10 1087 c.931G>T c.(931-933)GAG>TAG p.E311* KIAA1751_uc009vkz.1_Nonsense_Mutation_p.E311* NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN hypothetical protein LOC85452 311 Potential. pancreas(1) 1 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) TCCGCCAGCTCTGCCTTGGCA 0.627 NA 11 40 2.27111e-07 2.85232e-07 0.001368 1 0 PRDM16 63976 broad.mit.edu 37 1 3328730 3328730 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:3328730G>T uc001akf.2 + 9 2049 c.1969G>T c.(1969-1971)GGG>TGG p.G657W PRDM16_uc001akc.2_Missense_Mutation_p.G657W|PRDM16_uc001akd.2_Missense_Mutation_p.G657W|PRDM16_uc001ake.2_Missense_Mutation_p.G657W|PRDM16_uc009vlh.2_Missense_Mutation_p.G358W NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 657 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GGCGCCCCCGGGGGCCCCGAA 0.692 NA T EVI1 MDS|AML 12 20 5.50884e-06 6.54807e-06 0.001368 1 0 DFFB 1677 broad.mit.edu 37 1 3775365 3775365 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:3775365C>T uc001alc.2 + 2 521 c.198C>T c.(196-198)AAC>AAT p.N66N DFFB_uc001ale.2_RNA|DFFB_uc009vlp.2_RNA|DFFB_uc001alb.2_RNA|DFFB_uc010nzn.1_Silent_p.N66N|DFFB_uc009vlq.2_RNA|DFFB_uc009vlr.2_Translation_Start_Site|DFFB_uc001ald.2_Translation_Start_Site|KIAA0562_uc001aky.2_5'Flank|KIAA0562_uc010nzm.1_5'Flank|KIAA0562_uc001akz.2_5'Flank|DFFB_uc009vln.1_Silent_p.N66N|DFFB_uc001ala.1_Silent_p.N66N|DFFB_uc009vlo.1_Silent_p.N66N NM_004402 NP_004393 O76075 DFFB_HUMAN DNA fragmentation factor, 40 kD, beta 66 CIDE-N. apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction cytosol|nucleoplasm deoxyribonuclease activity|enzyme binding 0 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211) Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) TTCCCGACAACGCCGAGCTGG 0.652 NA 4 41 0 0 0.000602 0 0 ACOT7 11332 broad.mit.edu 37 1 6341241 6341241 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:6341241C>G uc001ams.2 - 8 1122 c.965G>C c.(964-966)CGC>CCC p.R322P ACOT7_uc010nzq.1_Missense_Mutation_p.R207P|ACOT7_uc001amt.2_Missense_Mutation_p.R312P|ACOT7_uc001amu.2_RNA|ACOT7_uc001amv.2_RNA|ACOT7_uc001amq.2_Missense_Mutation_p.R271P|ACOT7_uc001amr.2_Missense_Mutation_p.R292P NM_181864 NP_863654 O00154 BACH_HUMAN acyl-CoA thioesterase 7 isoform hBACHb 322 mitochondrion|nucleus carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity 0 Ovarian(185;0.0634)|all_lung(157;0.175) all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481) GGCCCGGTAGCGCTTCTGAGA 0.607 GBM(74;673 1226 4974 11850 13190) NA OREG0013034 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 35 0 0 0.000978 0 0 TAS1R1 80835 broad.mit.edu 37 1 6631250 6631250 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:6631250T>A uc001ant.2 + 2 473 c.473T>A c.(472-474)CTG>CAG p.L158Q TAS1R1_uc001anu.2_Missense_Mutation_p.L158Q|TAS1R1_uc001anv.2_Missense_Mutation_p.L158Q|TAS1R1_uc001anw.2_Missense_Mutation_p.L158Q NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN sweet taste receptor T1r isoform b 158 Extracellular (Potential). sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) ACAGCCGCCCTGCTGAGCCCT 0.607 NA 17 44 0 0 0.008871 0 0 DNAJC11 55735 broad.mit.edu 37 1 6704656 6704656 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:6704656G>A uc001aof.2 - 10 1165 c.1059C>T c.(1057-1059)GTC>GTT p.V353V DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Silent_p.V353V|DNAJC11_uc010nzu.1_Silent_p.V263V NM_018198 NP_060668 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 353 protein folding heat shock protein binding|unfolded protein binding ovary(1)|skin(1) 2 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) CTCCAACGCTGACAGCTGCAC 0.537 NA 9 25 0 0 0.004482 0 0 EXOSC10 5394 broad.mit.edu 37 1 11141175 11141175 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:11141175C>G uc001asa.2 - 11 1451 c.1401G>C c.(1399-1401)CAG>CAC p.Q467H EXOSC10_uc001asb.2_Missense_Mutation_p.Q467H|EXOSC10_uc009vmy.1_Missense_Mutation_p.Q467H NM_001001998 NP_001001998 Q01780 EXOSX_HUMAN exosome component 10 isoform 1 467 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding upper_aerodigestive_tract(1) 1 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) GCCACACCACCTGCAGCTGCA 0.587 Colon(179;105 1987 14326 27364 29542) NA 3 27 0 0 0.009096 0 0 MAD2L2 10459 broad.mit.edu 37 1 11736107 11736107 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:11736107G>A uc001asp.2 - 6 611 c.423C>T c.(421-423)CCC>CCT p.P141P MAD2L2_uc009vnc.2_Silent_p.P141P|MAD2L2_uc001asq.3_Silent_p.P141P NM_006341 NP_006332 Q9UI95 MD2L2_HUMAN MAD2 homolog 141 Mediates interaction with REV1 and REV3L and homodimerization.|HORMA. cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex JUN kinase binding 0 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACACACCTGGGGGGTTGTGGT 0.577 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 16 34 0 0 0.010504 0 0 SPEN 23013 broad.mit.edu 37 1 16255538 16255538 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:16255538G>T uc001axk.1 + 11 3007 c.2803G>T c.(2803-2805)GTT>TTT p.V935F SPEN_uc010obp.1_Missense_Mutation_p.V894F NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 935 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) ACTGGAATCAGTTAGAATGAA 0.468 NA 20 103 1.50039e-11 2.15148e-11 0.001882 1 0 FBXO42 54455 broad.mit.edu 37 1 16578015 16578015 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:16578015C>T uc001ayg.2 - 10 1520 c.1304G>A c.(1303-1305)GGC>GAC p.G435D FBXO42_uc001aye.3_Missense_Mutation_p.G153D|FBXO42_uc001ayf.2_Missense_Mutation_p.G342D NM_018994 NP_061867 Q6P3S6 FBX42_HUMAN F-box protein 42 435 upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) GATAGGAGAGCCGTCTCCTCT 0.577 NA 4 9 0 0 0.000602 0 0 ESPNP 284729 broad.mit.edu 37 1 17017716 17017716 + Missense_Mutation SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:17017716T>C uc001azn.1 - 11 2012 c.1898A>G c.(1897-1899)GAG>GGG p.E633G NR_026567 RecName: Full=Espin; AltName: Full=Ectoplasmic specialization protein; AltName: Full=Autosomal recessive deafness type 36 protein; 0 GGCTCACCTCTCTTCTTCCAG 0.622 NA 5 30 0 0 0.000602 0 0 ACTL8 81569 broad.mit.edu 37 1 18149614 18149614 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:18149614G>T uc001bat.2 + 2 327 c.111G>T c.(109-111)CCG>CCT p.P37P NM_030812 NP_110439 Q9H568 ACTL8_HUMAN actin-like 8 37 cytoplasm|cytoskeleton ovary(4) 4 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) ACTACCTACCGTGCAAGGAGA 0.587 NA 17 45 1.56452e-12 2.31028e-12 0.007413 1 0 EIF4G3 8672 broad.mit.edu 37 1 21220017 21220017 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:21220017C>A uc001bec.2 - 13 2334 c.2078G>T c.(2077-2079)GGC>GTC p.G693V EIF4G3_uc010odi.1_Missense_Mutation_p.G297V|EIF4G3_uc010odj.1_Missense_Mutation_p.G692V|EIF4G3_uc009vpz.2_Missense_Mutation_p.G413V|EIF4G3_uc001bed.2_Missense_Mutation_p.G693V|EIF4G3_uc001bef.2_Missense_Mutation_p.G692V|EIF4G3_uc001bee.2_Missense_Mutation_p.G699V NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 693 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) TACAGGTACGCCTCTTCCACC 0.473 NA 11 37 0.000151284 0.000170553 0.001855 1 0 HSPG2 3339 broad.mit.edu 37 1 22172956 22172956 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:22172956G>A uc001bfj.2 - 63 8341 c.8301C>T c.(8299-8301)CTC>CTT p.L2767L HSPG2_uc009vqd.2_Silent_p.L2768L NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 2767 Ig-like C2-type 13. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GGTGACTGGGGAGGCTGCCCC 0.657 NA 15 71 0 0 0.00499 0 0 ZBTB40 9923 broad.mit.edu 37 1 22850841 22850841 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:22850841C>T uc001bft.2 + 18 3940 c.3429C>T c.(3427-3429)CTC>CTT p.L1143L ZBTB40_uc001bfu.2_Silent_p.L1143L|ZBTB40_uc009vqi.1_Silent_p.L1031L NM_001083621 NP_001077090 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 1143 C2H2-type 12. bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) GTGGGGAACTCTTCACCTCCC 0.577 NA 11 31 0 0 0.001368 0 0 EPHA8 2046 broad.mit.edu 37 1 22927454 22927454 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:22927454C>A uc001bfx.1 + 15 2727 c.2602C>A c.(2602-2604)CAC>AAC p.H868N NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 868 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCACGCCCTGCACCAGCTCAT 0.677 NA 24 52 1.50538e-07 1.90511e-07 0.00632 1 0 EPHA8 2046 broad.mit.edu 37 1 22927967 22927967 + Splice_Site SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:22927967G>T uc001bfx.1 + 16 3028 c.2903_splice c.e16+1 p.Q968_splice NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TGAACGCCCAGTGAGTGATGG 0.692 NA 11 21 9.70103e-10 1.33322e-09 0.008291 1 0 C1QB 713 broad.mit.edu 37 1 22987523 22987523 + Missense_Mutation SNP C C T rs149072794 byFrequency TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:22987523C>T uc001bgd.2 + 3 538 c.406C>T c.(406-408)CGG>TGG p.R136W NM_000491 NP_000482 P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 136 C1q. complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CCCCCTGCGCCGGGACCAGAC 0.587 NA 13 85 0 0 0.004007 0 0 RPA2 6118 broad.mit.edu 37 1 28223634 28223634 + Splice_Site SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:28223634T>A uc001bpe.1 - 6 691 c.409_splice c.e6-1 p.N137_splice RPA2_uc001bpd.1_Splice_Site_p.N145_splice|RPA2_uc010ofp.1_Splice_Site_p.N41_splice NM_002946 NP_002937 P15927 RFA2_HUMAN replication protein A2, 32kDa cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor A complex|PML body protein phosphatase binding|single-stranded DNA binding skin(1) 1 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649) CTTTTTGTTCTATTAAAATGA 0.343 NA Direct_reversal_of_damage|NER 4 15 0 0 0.009096 0 0 SMPDL3B 27293 broad.mit.edu 37 1 28275671 28275671 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:28275671C>T uc001bpg.2 + 3 562 c.371C>T c.(370-372)CCA>CTA p.P124L SMPDL3B_uc001bpf.2_Missense_Mutation_p.P124L|SMPDL3B_uc010ofq.1_5'UTR|SMPDL3B_uc010ofr.1_Missense_Mutation_p.P124L NM_014474 NP_055289 Q92485 ASM3B_HUMAN acid sphingomyelinase-like phosphodiesterase 3B 124 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity ovary(3) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055) GAGGTCTTTCCAGGTAAGACT 0.552 NA 12 21 0 0 0.000978 0 0 DCDC2B 149069 broad.mit.edu 37 1 32680429 32680429 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:32680429C>A uc001bun.2 + 7 746 c.746C>A c.(745-747)CCC>CAC p.P249H C1orf91_uc001buo.3_RNA|C1orf91_uc001bup.3_RNA NM_001099434 NP_001092904 A2VCK2 DCD2B_HUMAN doublecortin domain containing 2B 249 intracellular signal transduction 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) GTAACCCAGCCCTCTCCAAAG 0.557 NA 9 39 0.000274275 0.000304364 0.004482 1 0 CSMD2 114784 broad.mit.edu 37 1 34498244 34498244 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:34498244G>T uc001bxn.1 - 3 377 c.348C>A c.(346-348)CTC>CTA p.L116L CSMD2_uc001bxm.1_Silent_p.L156L NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 116 CUB 1.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AGTCGCTGATGAGGCGCAGAG 0.547 NA 4 5 5.9392e-07 7.35353e-07 0.001168 1 0 MTF1 4520 broad.mit.edu 37 1 38305733 38305733 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:38305733G>A uc001cce.1 - 3 647 c.506C>T c.(505-507)ACC>ATC p.T169I MTF1_uc009vvj.1_5'UTR NM_005955 NP_005946 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 169 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding ovary(1)|pancreas(1) 2 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) ACAGACAAAGGTGTACTCTCC 0.547 NA 23 56 0 0 0.007291 0 0 MACF1 23499 broad.mit.edu 37 1 39781279 39781279 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:39781279G>T uc010ois.1 + 28 3585 c.3380G>T c.(3379-3381)AGT>ATT p.S1127I MACF1_uc001cda.1_Missense_Mutation_p.S1035I|MACF1_uc001cdc.1_Missense_Mutation_p.S214I|MACF1_uc009vvq.1_Missense_Mutation_p.S184I|MACF1_uc001cdb.1_Missense_Mutation_p.S214I NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 1127 Poly-Ser. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TCTAGTTCAAGTGTCCCAACT 0.463 NA 28 35 3.1745e-13 4.74897e-13 0.008361 1 0 SMAP2 64744 broad.mit.edu 37 1 40882506 40882507 + Missense_Mutation DNP CC CC TT TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:40882506_40882507CC>TT uc001cfj.2 + 9 967_968 c.902_903CC>TT c.(901-903)CCC>CTT p.P301L SMAP2_uc001cfk.2_Missense_Mutation_p.P271L|SMAP2_uc010oji.1_Missense_Mutation_p.P218L|SMAP2_uc010ojj.1_Missense_Mutation_p.P117L NM_022733 NP_073570 Q8WU79 SMAP2_HUMAN small ArfGAP2 301 Met-rich. regulation of ARF GTPase activity cytoplasm|nucleus ARF GTPase activator activity|zinc ion binding 0 Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.04e-17) CCCAGCTTCCCCGGGGTTACAC 0.54 NA 7 43 0 0 0.004672 0 0 KCNQ4 9132 broad.mit.edu 37 1 41283859 41283859 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:41283859C>A uc001cgh.1 + 3 511 c.429C>A c.(427-429)TTC>TTA p.F143L KCNQ4_uc001cgi.1_Missense_Mutation_p.F143L NM_004700 NP_004691 P56696 KCNQ4_HUMAN potassium voltage-gated channel KQT-like protein 143 Helical; Name=Segment S2; (Potential). sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1) 1 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) TCGTGGTTTTCGGCTTGGAGT 0.617 NA 19 79 6.21321e-17 9.96661e-17 0.00278 1 0 HIVEP3 59269 broad.mit.edu 37 1 42047384 42047384 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:42047384C>A uc001cgz.3 - 4 4298 c.3085G>T c.(3085-3087)GTG>TTG p.V1029L HIVEP3_uc001cha.3_Missense_Mutation_p.V1029L|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 1029 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGTGGAGCCACTGGGGCTGGA 0.587 NA 11 34 1.08611e-07 1.38156e-07 0.000978 1 0 CCDC30 728621 broad.mit.edu 37 1 43111805 43111805 + Splice_Site SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:43111805G>C uc009vwk.1 + 14 2001 c.1891_splice c.e14-1 p.N631_splice CCDC30_uc001chm.2_Splice_Site_p.N329_splice|CCDC30_uc001chn.2_Splice_Site_p.N420_splice NM_001080850 NP_001074319 Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 0 TTTAAACTTAGAATCTTAAGG 0.164 NA 5 16 0 0 0.000602 0 0 ST3GAL3 6487 broad.mit.edu 37 1 44386213 44386213 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:44386213G>T uc001ckc.2 + 10 1059 c.882G>T c.(880-882)ATG>ATT p.M294I ST3GAL3_uc001cjz.2_Missense_Mutation_p.M309I|ST3GAL3_uc001cka.2_Intron|ST3GAL3_uc001ckb.2_Missense_Mutation_p.M363I|ST3GAL3_uc001ckd.2_Missense_Mutation_p.M348I|ST3GAL3_uc001cke.2_Missense_Mutation_p.M278I|ST3GAL3_uc001ckf.2_Missense_Mutation_p.M332I|ST3GAL3_uc001ckg.2_Intron|ST3GAL3_uc001ckh.2_Intron|ST3GAL3_uc001cki.2_Intron|ST3GAL3_uc009vwv.2_Missense_Mutation_p.M264I|ST3GAL3_uc001ckj.2_RNA|ST3GAL3_uc009vww.2_RNA|ST3GAL3_uc001ckk.2_Missense_Mutation_p.M263I|ST3GAL3_uc009vwy.2_Missense_Mutation_p.M200I|ST3GAL3_uc009vwx.2_Intron|ST3GAL3_uc001ckm.2_Intron|ST3GAL3_uc001ckl.2_Intron|ST3GAL3_uc009vwz.2_Missense_Mutation_p.M68I|ST3GAL3_uc001ckn.2_Intron|ST3GAL3_uc001ckp.2_Intron|ST3GAL3_uc001cko.2_Intron|ST3GAL3_uc009vxa.2_Missense_Mutation_p.M81I|ST3GAL3_uc001ckq.2_Intron|ST3GAL3_uc001ckr.2_Intron|ST3GAL3_uc009vxb.2_Intron NM_006279 NP_006270 Q11203 SIAT6_HUMAN sialyltransferase 6 isoform j 294 Lumenal (Potential). protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane N-acetyllactosaminide alpha-2,3-sialyltransferase activity ovary(3) 3 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0518) ATGGCCTCATGGGCCGGGGGG 0.607 NA 15 35 1.56452e-12 2.31028e-12 0.007413 1 0 SLC6A9 6536 broad.mit.edu 37 1 44476516 44476516 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:44476516C>G uc001cll.2 - 3 480 c.288G>C c.(286-288)CAG>CAC p.Q96H SLC6A9_uc009vxe.2_5'UTR|SLC6A9_uc010okm.1_Missense_Mutation_p.Q23H|SLC6A9_uc001clm.2_Missense_Mutation_p.Q42H|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.Q42H|SLC6A9_uc001cln.2_Missense_Mutation_p.Q23H|SLC6A9_uc010oko.1_Intron|SLC6A9_uc010okp.1_Intron NM_201649 NP_964012 P48067 SC6A9_HUMAN solute carrier family 6 member 9 isoform 2 96 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity 0 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) GTTTGAGGTTCTGGTCCCTCT 0.592 NA 21 42 0 0 0.005443 0 0 FAF1 11124 broad.mit.edu 37 1 51171477 51171478 + Missense_Mutation DNP CC CC AA TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:51171477_51171478CC>AA uc009vyx.1 - 8 700_701 c.637_638GG>TT c.(637-639)GGA>TTA p.G213L FAF1_uc009vyw.1_Intron|FAF1_uc001cse.1_Missense_Mutation_p.G213L NM_007051 NP_008982 Q9UNN5 FAF1_HUMAN FAS-associated factor 1 213 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity p.0?(1) ovary(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) AGTACTGCTTCCTGAGAAGTTC 0.431 NA 5 25 0 0 0.004672 0 0 ACOT11 26027 broad.mit.edu 37 1 55066961 55066961 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:55066961G>A uc001cxm.1 + 9 986 c.904G>A c.(904-906)GTG>ATG p.V302M ACOT11_uc001cxj.1_Missense_Mutation_p.V180M|ACOT11_uc001cxl.1_Missense_Mutation_p.V302M NM_015547 NP_056362 Q8WXI4 ACO11_HUMAN thioesterase, adipose associated isoform BFIT1 302 Acyl coenzyme A hydrolase 2. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity central_nervous_system(1) 1 GGGCGTGTGCGTGGAGGCCTA 0.572 Ovarian(148;1440 1861 22015 32453 51933) NA 3 45 0 0 0.004672 0 0 C8A 731 broad.mit.edu 37 1 57349308 57349308 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:57349308C>T uc001cyo.2 + 6 941 c.809C>T c.(808-810)TCA>TTA p.S270L NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 270 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 GTATCCCACTCACAAGACACT 0.408 NA 19 25 0 0 0.00278 0 0 DAB1 1600 broad.mit.edu 37 1 57476916 57476916 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:57476916G>C uc001cys.1 - 15 2148 c.1474C>G c.(1474-1476)CCA>GCA p.P492A DAB1_uc001cyt.1_Missense_Mutation_p.P490A|DAB1_uc001cyq.1_Missense_Mutation_p.P490A|DAB1_uc001cyr.1_Missense_Mutation_p.P406A|DAB1_uc009vzw.1_Missense_Mutation_p.P474A|DAB1_uc009vzx.1_Missense_Mutation_p.P492A NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 525 cell differentiation|nervous system development skin(2)|ovary(1) 3 GATTTGGATGGAGAGCTCTGT 0.488 NA 11 67 0 0 0.001855 0 0 SGIP1 84251 broad.mit.edu 37 1 67105493 67105493 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:67105493G>T uc001dcr.2 + 5 422 c.205G>T c.(205-207)GCG>TCG p.A69S NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 69 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 TGGATTTTATGCGGAAATTGA 0.294 NA 6 39 2.17888e-05 2.52532e-05 0.006214 1 0 LRRC7 57554 broad.mit.edu 37 1 70504868 70504868 + Nonsense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:70504868G>T uc001dep.2 + 19 3277 c.3247G>T c.(3247-3249)GAG>TAG p.E1083* LRRC7_uc009wbg.2_Nonsense_Mutation_p.E367*|LRRC7_uc001deq.2_Nonsense_Mutation_p.E324* NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1083 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 CCCACCGATGGAGCAAATGTT 0.517 NA 16 36 9.16793e-09 1.2118e-08 0.00499 1 0 C1orf173 127254 broad.mit.edu 37 1 75037079 75037079 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:75037079G>A uc001dgg.2 - 14 4534 c.4315C>T c.(4315-4317)CGG>TGG p.R1439W NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1439 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 GAGGTCTTCCGCTCCAGGGCT 0.612 NA 4 132 0 0 0.000602 0 0 ST6GALNAC5 81849 broad.mit.edu 37 1 77510192 77510192 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:77510192C>A uc001dhi.2 + 3 740 c.565C>A c.(565-567)CTG>ATG p.L189M ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA NM_030965 NP_112227 Q9BVH7 SIA7E_HUMAN sialyltransferase 7E 189 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity pancreas(1)|skin(1) 2 CTACAACAACCTGCATCTCCT 0.597 NA 17 99 5.3912e-06 6.42881e-06 0.006122 1 0 DPYD 1806 broad.mit.edu 37 1 97658647 97658647 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:97658647C>A uc001drv.2 - 20 2737 c.2600G>T c.(2599-2601)CGT>CTT p.R867L NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 867 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TTCAGCTATACGTGGAACTGG 0.423 NA 10 43 1.3612e-06 1.67559e-06 0.003163 1 0 LPPR4 9890 broad.mit.edu 37 1 99771548 99771548 + Missense_Mutation SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:99771548T>C uc001dse.2 + 7 1380 c.1274T>C c.(1273-1275)GTA>GCA p.V425A LPPR4_uc010oue.1_Missense_Mutation_p.V367A NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 425 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) ACCCCATCTGTAGAAGACCCT 0.493 NA 5 19 0 0 0.001168 0 0 AGL 178 broad.mit.edu 37 1 100368266 100368266 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:100368266G>A uc001dsi.1 + 27 4016 c.3616G>A c.(3616-3618)GAA>AAA p.E1206K AGL_uc001dsj.1_Missense_Mutation_p.E1206K|AGL_uc001dsk.1_Missense_Mutation_p.E1206K|AGL_uc001dsl.1_Missense_Mutation_p.E1206K|AGL_uc001dsm.1_Missense_Mutation_p.E1190K|AGL_uc001dsn.1_Missense_Mutation_p.E1189K NM_000642 NP_000633 P35573 GDE_HUMAN amylo-1,6-glucosidase, 1206 4-alpha-glucanotransferase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) AGTCATACAGGAAGCAATGCA 0.408 NA 10 37 0 0 0.001855 0 0 COL11A1 1301 broad.mit.edu 37 1 103385898 103385898 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:103385898G>T uc001dul.2 - 49 4049 c.3731C>A c.(3730-3732)TCT>TAT p.S1244Y COL11A1_uc001duk.2_Missense_Mutation_p.S440Y|COL11A1_uc001dum.2_Missense_Mutation_p.S1256Y|COL11A1_uc001dun.2_Missense_Mutation_p.S1205Y|COL11A1_uc009weh.2_Missense_Mutation_p.S1128Y NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1244 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) TGAACCAACAGACCCTGGGGG 0.363 NA 25 70 2.61193e-14 3.97131e-14 0.009535 1 0 KCNA10 3744 broad.mit.edu 37 1 111060633 111060633 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:111060633C>A uc001dzt.1 - 1 1165 c.777G>T c.(775-777)AAG>AAT p.K259N NM_005549 NP_005540 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related 259 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity ovary(3)|large_intestine(1) 4 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) AGAGGACTGTCTTGCTCATGT 0.547 NA 32 70 8.73648e-17 1.39991e-16 0.004289 1 0 KCNA2 3737 broad.mit.edu 37 1 111146816 111146816 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:111146816C>A uc001dzu.2 - 2 1085 c.589G>T c.(589-591)GGT>TGT p.G197C KCNA2_uc009wfv.1_Missense_Mutation_p.G197C|KCNA2_uc009wfw.2_Missense_Mutation_p.G197C NM_004974 NP_004965 P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related 197 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(1) 1 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) ACCCCACTACCATGCATGTCT 0.468 Pancreas(18;568 735 10587 23710 36357) NA 14 56 0.000308642 0.000341227 0.003163 1 0 HAO2 51179 broad.mit.edu 37 1 119927405 119927405 + Missense_Mutation SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:119927405A>G uc001ehq.1 + 5 642 c.290A>G c.(289-291)CAA>CGA p.Q97R HAO2_uc001ehr.1_Missense_Mutation_p.Q97R NM_001005783 NP_001005783 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 97 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity ovary(2)|skin(2) 4 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) ACAGCTGCCCAAGCGGCTGGT 0.547 NA 7 20 0 0 0.006214 0 0 PPIAL4E 730262 broad.mit.edu 37 1 148644433 148644433 + Silent SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:148644433T>A uc010paz.1 + 1 423 c.348T>A c.(346-348)GCT>GCA p.A116A NM_001144032 NP_001137504 F5H284 F5H284_HUMAN peptidylprolyl isomerase A (cyclophilin A)-like 116 protein folding peptidyl-prolyl cis-trans isomerase activity 0 TCATCTGTGCTGCCAAGACTG 0.478 NA 48 91 0 0 0.00361 0 0 HIST2H2AC 8338 broad.mit.edu 37 1 149858795 149858795 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:149858795G>T uc001etd.2 + 1 271 c.271G>T c.(271-273)GAC>TAC p.D91Y HIST2H2BE_uc001etc.2_5'Flank NM_003517 NP_003508 Q16777 H2A2C_HUMAN histone cluster 2, H2ac 91 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|skin(1) 2 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) CATCCGCAACGACGAGGAACT 0.597 NA 10 53 2.35188e-11 3.34985e-11 0.006122 1 0 SV2A 9900 broad.mit.edu 37 1 149885080 149885080 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:149885080C>T uc001etg.2 - 2 804 c.313G>A c.(313-315)GAG>AAG p.E105K SV2A_uc001eth.2_Missense_Mutation_p.E105K NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2 105 Cytoplasmic (Potential). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(6)|pancreas(1) 7 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) CCCCCAGACTCTGCCCGGGGA 0.637 NA 56 180 0 0 0.00361 0 0 TCHH 7062 broad.mit.edu 37 1 152081942 152081942 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:152081942G>T uc001ezp.2 - 2 3751 c.3751C>A c.(3751-3753)CGG>AGG p.R1251R TCHH_uc009wne.1_Silent_p.R1251R NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1251 keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCAACTGCCGGAACTGTTCA 0.507 NA 38 18 1.04594e-18 1.70913e-18 0.00623 1 0 HRNR 388697 broad.mit.edu 37 1 152191721 152191721 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:152191721C>A uc001ezt.1 - 3 2460 c.2384G>T c.(2383-2385)GGG>GTG p.G795V NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 795 8. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTGCCAGACCCGTGTTGGCC 0.602 NA 30 16 1.50538e-07 1.90511e-07 0.00632 1 0 FLG2 388698 broad.mit.edu 37 1 152324460 152324460 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:152324460G>C uc001ezw.3 - 3 5875 c.5802C>G c.(5800-5802)CAC>CAG p.H1934Q uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1934 Filaggrin 8. 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) CATGACTAGGGTGGCCATGTT 0.522 NA 108 113 0 0 0.00361 0 0 SPRR2D 6703 broad.mit.edu 37 1 153012776 153012776 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:153012776G>A uc001fbb.2 - 2 107 c.47C>T c.(46-48)CCT>CTT p.P16L SPRR2D_uc009wnz.2_RNA NM_006945 NP_008876 P22532 SPR2D_HUMAN small proline-rich protein 2D 16 keratinization cornified envelope|cytoplasm 0 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGGGCACACAGGAGGTGGCTG 0.582 NA 69 51 0 0 0.00361 0 0 C1orf43 25912 broad.mit.edu 37 1 154180095 154180095 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:154180095C>A uc001fei.2 - 7 986 c.596G>T c.(595-597)CGA>CTA p.R199L C1orf189_uc001fee.1_5'Flank|C1orf43_uc001fef.1_Missense_Mutation_p.R96L|C1orf43_uc001feg.2_Missense_Mutation_p.R165L|C1orf43_uc001feh.2_Missense_Mutation_p.R147L|C1orf43_uc001fej.2_Missense_Mutation_p.R181L|C1orf43_uc009wos.1_3'UTR NM_001098616 NP_001092086 Q9BWL3 CA043_HUMAN hypothetical protein LOC25912 isoform 3 199 integral to membrane coenzyme binding|oxidoreductase activity 0 all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877) CTGGTGATGTCGCTGAGAGCT 0.512 NA 14 70 7.93312e-07 9.78967e-07 0.00245 1 0 SYT11 23208 broad.mit.edu 37 1 155851152 155851152 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:155851152C>A uc001fmg.2 + 4 1412 c.1149C>A c.(1147-1149)GAC>GAA p.D383E SYT11_uc010pgq.1_Missense_Mutation_p.D76E NM_152280 NP_689493 Q9BT88 SYT11_HUMAN synaptotagmin XI 383 C2 2.|Cytoplasmic (Potential). cell junction|synaptic vesicle membrane protein binding|transporter activity ovary(1)|skin(1) 2 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) TCGTTATCGACTTCGATCGCA 0.527 NA 191 130 1.91102e-82 3.59252e-82 0.00361 1 0 SYT11 23208 broad.mit.edu 37 1 155851170 155851170 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:155851170G>C uc001fmg.2 + 4 1430 c.1167G>C c.(1165-1167)AAG>AAC p.K389N SYT11_uc010pgq.1_Missense_Mutation_p.K82N NM_152280 NP_689493 Q9BT88 SYT11_HUMAN synaptotagmin XI 389 C2 2.|Cytoplasmic (Potential). cell junction|synaptic vesicle membrane protein binding|transporter activity ovary(1)|skin(1) 2 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) GCACCACCAAGAATGAGGTGG 0.562 NA 70 166 0 0 0.00361 0 0 NTRK1 4914 broad.mit.edu 37 1 156838013 156838013 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:156838013C>T uc001fqh.1 + 5 602 c.546C>T c.(544-546)CCC>CCT p.P182P NTRK1_uc001fqf.1_Silent_p.P152P|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Silent_p.P182P|NTRK1_uc009wsk.1_Silent_p.P182P NM_002529 NP_002520 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 182 LRRCT.|Extracellular (Potential). activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(9)|ovary(6)|stomach(1)|central_nervous_system(1) 17 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) GGCAAGGGCCCCTGGCCCACA 0.647 NA T TPM3|TPR|TFG papillary thyroid TSP Lung(10;0.080) 11 13 0 0 0.000978 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156914841 156914841 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:156914841C>A uc001fqo.2 - 29 3881 c.2841G>T c.(2839-2841)AGG>AGT p.R947S ARHGEF11_uc010phu.1_Missense_Mutation_p.R363S|ARHGEF11_uc001fqn.2_Missense_Mutation_p.R987S NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 947 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GGTTGCTGGCCCTCTCCAGGG 0.562 NA 98 72 1.11883e-47 2.07185e-47 0.00361 1 0 ARHGEF11 9826 broad.mit.edu 37 1 156918261 156918261 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:156918261G>C uc001fqo.2 - 22 2875 c.1835C>G c.(1834-1836)TCT>TGT p.S612C ARHGEF11_uc010phu.1_Missense_Mutation_p.S28C|ARHGEF11_uc001fqn.2_Missense_Mutation_p.S652C|ARHGEF11_uc001fqp.1_Missense_Mutation_p.S131C NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 612 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GAGGCTTTCAGAGCGGCCCAG 0.572 NA 15 44 0 0 0.007413 0 0 CD1C 911 broad.mit.edu 37 1 158262459 158262459 + Silent SNP C C A rs3138103 byFrequency TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:158262459C>A uc001fru.2 + 4 976 c.684C>A c.(682-684)TCC>TCA p.S228S CD1C_uc001frv.2_Silent_p.S31S NM_001765 NP_001756 P29017 CD1C_HUMAN CD1C antigen precursor 228 Extracellular (Potential).|Ig-like. antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding ovary(2)|skin(1)|pancreas(1) 4 all_hematologic(112;0.0378) GTCATGCCTCCGGCTTCTACC 0.532 NA 28 20 1.77063e-15 2.7715e-15 0.005443 1 0 SPTA1 6708 broad.mit.edu 37 1 158609404 158609404 + Nonsense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:158609404G>A uc001fst.1 - 35 5147 c.4948C>T c.(4948-4950)CAG>TAG p.Q1650* NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1650 Spectrin 16. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TCCAATAGCTGATGCTTCTTG 0.478 NA 56 58 0 0 0.00361 0 0 SPTA1 6708 broad.mit.edu 37 1 158646020 158646020 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:158646020G>T uc001fst.1 - 8 1222 c.1023C>A c.(1021-1023)ATC>ATA p.I341I NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 341 Spectrin 4. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TCATCTCCTGGATCTGAGGTG 0.468 NA 90 71 3.19611e-63 5.98566e-63 0.00361 1 0 OR6K3 391114 broad.mit.edu 37 1 158687187 158687187 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:158687187C>G uc010pip.1 - 1 767 c.767G>C c.(766-768)TGT>TCT p.C256S NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, 256 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(112;0.0378) GTGGCCTGCACAGGTAGAAAA 0.448 NA 17 15 0 0 0.004007 0 0 OR10J5 127385 broad.mit.edu 37 1 159505133 159505133 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:159505133G>T uc010piw.1 - 1 665 c.665C>A c.(664-666)TCT>TAT p.S222Y NM_001004469 NP_001004469 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, 222 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_hematologic(112;0.0429) AAGGATGGAAGAGATGACAAG 0.443 NA 29 23 1.1423e-28 2.01495e-28 0.009535 1 0 SLAMF6 114836 broad.mit.edu 37 1 160461040 160461040 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:160461040G>A uc001fwe.1 - 3 581 c.521C>T c.(520-522)TCA>TTA p.S174L SLAMF6_uc001fwd.1_Missense_Mutation_p.S174L|SLAMF6_uc010pjh.1_Missense_Mutation_p.S125L|SLAMF6_uc010pji.1_Missense_Mutation_p.S63L|SLAMF6_uc010pjj.1_Missense_Mutation_p.S63L|SLAMF6_uc009wtm.1_Missense_Mutation_p.S125L NM_052931 NP_443163 Q96DU3 SLAF6_HUMAN activating NK receptor precursor 174 Extracellular (Potential).|Ig-like. integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) TGGCTGACTTGAAAGTGTGTT 0.473 NA 33 67 0 0 0.00874 0 0 OLFML2B 25903 broad.mit.edu 37 1 161967956 161967956 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:161967956G>C uc001gbu.2 - 6 1557 c.1133C>G c.(1132-1134)CCC>CGC p.P378R OLFML2B_uc010pkq.1_Missense_Mutation_p.P379R NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 378 skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) TGAGGTCGAGGGCTGTGGCAG 0.627 NA 51 124 0 0 0.00361 0 0 LMX1A 4009 broad.mit.edu 37 1 165175158 165175158 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:165175158G>C uc001gcy.1 - 7 1152 c.931C>G c.(931-933)CCC>GCC p.P311A LMX1A_uc001gcz.1_Missense_Mutation_p.P311A|LMX1A_uc001gcw.1_Missense_Mutation_p.P29A|LMX1A_uc001gcx.1_Missense_Mutation_p.P62A NM_177398 NP_796372 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 311 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 all_hematologic(923;0.248) TGTCGGAAGGGATCTGAGCTG 0.587 NA 11 62 0 0 0.008291 0 0 NME7 29922 broad.mit.edu 37 1 169292368 169292368 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:169292368T>A uc001gfu.2 - 3 503 c.265A>T c.(265-267)AGT>TGT p.S89C NME7_uc010plq.1_RNA|NME7_uc001gft.2_Missense_Mutation_p.S53C|NME7_uc001gfv.1_Missense_Mutation_p.S89C NM_013330 NP_037462 Q9Y5B8 NDK7_HUMAN nucleoside diphosphate kinase 7 isoform a 89 DM10. CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process centrosome ATP binding|metal ion binding|nucleoside diphosphate kinase activity central_nervous_system(1) 1 all_hematologic(923;0.208) TCTTTCCTACTGCCCAGCTGG 0.358 NA 27 24 0 0 0.009535 0 0 F5 2153 broad.mit.edu 37 1 169529939 169529939 + Missense_Mutation SNP C C T rs118203912 TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:169529939C>T uc001ggg.1 - 4 584 c.439G>A c.(439-441)GAA>AAA p.E147K F5_uc010plr.1_RNA NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 147 F5/8 type A 1.|Plastocyanin-like 1. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TAGGTGTATTCTCGGCCTGGA 0.517 NA 33 103 0 0 0.007835 0 0 C1orf129 80133 broad.mit.edu 37 1 170964581 170964581 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:170964581G>T uc001ghg.2 + 13 1376 c.1246G>T c.(1246-1248)GTG>TTG p.V416L C1orf129_uc009wvy.2_Missense_Mutation_p.V223L|C1orf129_uc010plz.1_Missense_Mutation_p.V416L NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 416 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CAGGAAAGCGGTGGCCCAGTA 0.463 NA 47 31 2.14674e-31 3.82758e-31 0.00361 1 0 PRDX6 9588 broad.mit.edu 37 1 173455480 173455480 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:173455480G>T uc001giy.1 + 4 537 c.486G>T c.(484-486)AGG>AGT p.R162S NM_004905 NP_004896 P30041 PRDX6_HUMAN peroxiredoxin 6 162 Thioredoxin. cell redox homeostasis|phospholipid catabolic process cytoplasmic membrane-bounded vesicle|cytosol|lysosome peroxiredoxin activity|phospholipase A2 activity|protein binding central_nervous_system(1) 1 AGATTCTCAGGGTAGTCATCT 0.443 NA 90 75 1.07597e-44 1.98507e-44 0.00361 1 0 RABGAP1L 9910 broad.mit.edu 37 1 174190250 174190250 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:174190250C>T uc001gjx.2 + 3 474 c.279C>T c.(277-279)GCC>GCT p.A93A RABGAP1L_uc009wwq.1_Silent_p.A93A|RABGAP1L_uc001gjw.2_Silent_p.A56A NM_014857 NP_055672 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like isoform A 93 regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity ovary(2)|lung(1)|kidney(1) 4 ATATTCCAGCCAGCCAAACAA 0.368 NA 57 62 0 0 0.00361 0 0 RFWD2 64326 broad.mit.edu 37 1 176175712 176175712 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:176175712C>G uc001gku.1 - 1 659 c.403G>C c.(403-405)GTA>CTA p.V135L RFWD2_uc001gkv.1_Missense_Mutation_p.V135L|RFWD2_uc001gkw.1_5'UTR NM_022457 NP_071902 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2 isoform a 135 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 ACCCACCATACGAAGTCGTTG 0.597 Ovarian(134;1413 1765 5706 35534 51541) NA 10 57 0 0 0.003163 0 0 ASTN1 460 broad.mit.edu 37 1 176934321 176934321 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:176934321G>T uc001glc.2 - 9 1788 c.1576C>A c.(1576-1578)CAG>AAG p.Q526K ASTN1_uc001glb.1_Missense_Mutation_p.Q526K|ASTN1_uc001gld.1_Missense_Mutation_p.Q526K|ASTN1_uc009wwx.1_Missense_Mutation_p.Q526K NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 534 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 TCAGAGGGCTGCTCTCCCAAA 0.388 NA 37 32 2.51966e-14 3.83494e-14 0.00361 1 0 ASTN1 460 broad.mit.edu 37 1 177001626 177001626 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:177001626G>T uc001glc.2 - 3 1043 c.831C>A c.(829-831)GGC>GGA p.G277G ASTN1_uc001glb.1_Silent_p.G277G|ASTN1_uc001gld.1_Silent_p.G277G|ASTN1_uc009wwx.1_Silent_p.G277G|ASTN1_uc001gle.3_RNA NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 277 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 TTTCATTGCAGCCCTGCAGGG 0.597 NA 88 53 4.04957e-52 7.55548e-52 0.00361 1 0 FAM5B 57795 broad.mit.edu 37 1 177249868 177249868 + Missense_Mutation SNP A A C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:177249868A>C uc001glf.2 + 8 1868 c.1556A>C c.(1555-1557)CAG>CCG p.Q519P FAM5B_uc001glg.2_Missense_Mutation_p.Q414P NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 519 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 TACCTGCTGCAGAAGCAGGAT 0.587 NA 18 16 0 0 0.008871 0 0 ABL2 27 broad.mit.edu 37 1 179084056 179084056 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:179084056C>A uc001gmj.3 - 9 1805 c.1518G>T c.(1516-1518)CAG>CAT p.Q506H ABL2_uc010pnf.1_Missense_Mutation_p.Q506H|ABL2_uc010png.1_Missense_Mutation_p.Q485H|ABL2_uc010pnh.1_Missense_Mutation_p.Q485H|ABL2_uc009wxe.2_Missense_Mutation_p.Q485H|ABL2_uc001gmg.3_Missense_Mutation_p.Q491H|ABL2_uc001gmi.3_Missense_Mutation_p.Q491H|ABL2_uc001gmh.3_Missense_Mutation_p.Q470H|ABL2_uc010pne.1_Missense_Mutation_p.Q470H NM_007314 NP_009298 P42684 ABL2_HUMAN arg tyrosine kinase isoform b 506 Protein kinase. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(8)|breast(3)|ovary(2)|central_nervous_system(1) 14 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) ATCCCTCAGGCTGTTCCATTC 0.398 NA T ETV6 AML 52 32 4.17463e-26 7.30314e-26 0.00361 1 0 ZNF648 127665 broad.mit.edu 37 1 182026681 182026681 + Silent SNP T T G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:182026681T>G uc001goz.2 - 2 673 c.465A>C c.(463-465)GCA>GCC p.A155A NM_001009992 NP_001009992 Q5T619 ZN648_HUMAN zinc finger protein 648 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CGTCCTGGTTTGCCCCCGAGT 0.552 NSCLC(71;908 1374 5429 20458 35642) NA 19 28 0 0 0.008871 0 0 HMCN1 83872 broad.mit.edu 37 1 185984364 185984364 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:185984364A>T uc001grq.1 + 31 4933 c.4704A>T c.(4702-4704)GAA>GAT p.E1568D NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 1568 Ig-like C2-type 13. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TTAAACTGGAATGTGAAACAC 0.398 NA 36 24 0 0 0.00623 0 0 B3GALT2 8707 broad.mit.edu 37 1 193149690 193149690 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:193149690G>T uc001gtc.3 - 2 1718 c.1003C>A c.(1003-1005)CGC>AGC p.R335S CDC73_uc001gtb.2_Intron NM_003783 NP_003774 O43825 B3GT2_HUMAN UDP-Gal:betaGlcNAc beta 335 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(1) 1 TGCAAACGGCGGATACCTAAA 0.433 NA 18 12 2.39187e-15 3.71838e-15 0.008871 1 0 CFH 3075 broad.mit.edu 37 1 196706718 196706718 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:196706718G>A uc001gtj.3 + 17 2950 c.2710G>A c.(2710-2712)GGT>AGT p.G904S NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 904 Sushi 15. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 TTGTGAGGGTGGTTTCAGGAT 0.393 NA 8 70 0 0 0.004482 0 0 ASPM 259266 broad.mit.edu 37 1 197071204 197071204 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:197071204C>A uc001gtu.2 - 18 7434 c.7177G>T c.(7177-7179)GCT>TCT p.A2393S ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.A241S NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2393 IQ 24. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 CTGAATGCAGCCTGAAGGATC 0.448 NA 85 156 3.21569e-47 5.94003e-47 0.00361 1 0 KIF14 9928 broad.mit.edu 37 1 200534316 200534316 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:200534316C>T uc010ppk.1 - 25 4391 c.3952G>A c.(3952-3954)GTA>ATA p.V1318I KIF14_uc010ppj.1_Missense_Mutation_p.V827I NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 1318 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 ATTAGCACTACTAGCTGCTCA 0.383 NA 72 142 0 0 0.00361 0 0 GPR25 2848 broad.mit.edu 37 1 200842745 200842745 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:200842745G>C uc001gvn.1 + 1 580 c.580G>C c.(580-582)GAG>CAG p.E194Q NM_005298 NP_005289 O00155 GPR25_HUMAN G protein-coupled receptor 25 194 Extracellular (Potential). integral to plasma membrane ovary(1) 1 GTGCGGCGAGGAGCCCTCCCA 0.716 NA 2 12 0 0 0.004672 0 0 GPR25 2848 broad.mit.edu 37 1 200842866 200842866 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:200842866A>T uc001gvn.1 + 1 701 c.701A>T c.(700-702)CAC>CTC p.H234L NM_005298 NP_005289 O00155 GPR25_HUMAN G protein-coupled receptor 25 234 Cytoplasmic (Potential). integral to plasma membrane ovary(1) 1 CGGCCGCCGCACGTGGGTCGG 0.687 NA 20 62 0 0 0.00632 0 0 GPR25 2848 broad.mit.edu 37 1 200842882 200842882 + Silent SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:200842882G>C uc001gvn.1 + 1 717 c.717G>C c.(715-717)CGG>CGC p.R239R NM_005298 NP_005289 O00155 GPR25_HUMAN G protein-coupled receptor 25 239 Cytoplasmic (Potential). integral to plasma membrane ovary(1) 1 GTCGGGCCCGGAGGAACTCGC 0.692 NA 21 61 0 0 0.007291 0 0 IGFN1 91156 broad.mit.edu 37 1 201185763 201185763 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:201185763C>A uc001gwc.2 + 5 1729 c.957C>A c.(955-957)ACC>ACA p.T319T IGFN1_uc001gwb.2_RNA NM_178275 NP_840059 RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1; ovary(2)|pancreas(1) 3 CTGACAGCACCACCTTCACGG 0.652 NA 31 42 3.90053e-15 6.03547e-15 0.002445 1 0 MYOG 4656 broad.mit.edu 37 1 203054631 203054631 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:203054631C>T uc001gzd.2 - 1 747 c.459G>A c.(457-459)GGG>GGA p.G153G NM_002479 NP_002470 P15173 MYOG_HUMAN myogenin 153 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity skin(2) 2 CTGGCTGGGGCCCGCCCCCGC 0.692 NA 7 12 0 0 0.00308 0 0 ADORA1 134 broad.mit.edu 37 1 203134490 203134490 + Missense_Mutation SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:203134490A>G uc001gze.1 + 4 876 c.443A>G c.(442-444)AAT>AGT p.N148S FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Missense_Mutation_p.N148S|ADORA1_uc010pqg.1_Missense_Mutation_p.N80S|ADORA1_uc009xak.1_Silent_p.Q73Q|ADORA1_uc010pqh.1_Missense_Mutation_p.N181S NM_000674 NP_000665 P30542 AA1R_HUMAN adenosine A1 receptor 148 Extracellular (Potential). induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis integral to plasma membrane large_intestine(1) 1 Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277) GGCTGGAACAATCTGAGTGCG 0.622 NA 13 34 0 0 0.00499 0 0 PPP1R15B 84919 broad.mit.edu 37 1 204379825 204379825 + Nonsense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:204379825G>A uc001hav.3 - 1 1120 c.715C>T c.(715-717)CAG>TAG p.Q239* NM_032833 NP_116222 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 239 regulation of translation ovary(1)|pancreas(1) 2 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) TCACTGTTCTGATAGCTGACT 0.507 NA 31 75 0 0 0.003755 0 0 NFASC 23114 broad.mit.edu 37 1 204938072 204938073 + Missense_Mutation DNP TG TG AT TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:204938072_204938073TG>AT uc001hbj.2 + 10 1293_1294 c.965_966TG>AT c.(964-966)ATG>AAT p.M322N NFASC_uc001hbh.2_Missense_Mutation_p.M322N|NFASC_uc010pqz.1_Missense_Mutation_p.M316N|NFASC_uc010pra.1_Missense_Mutation_p.M333N|NFASC_uc001hbi.2_Missense_Mutation_p.M333N|NFASC_uc009xbg.1_Missense_Mutation_p.M406N|NFASC_uc010prb.1_Missense_Mutation_p.M333N|NFASC_uc010prc.1_Translation_Start_Site|NFASC_uc001hbk.1_Missense_Mutation_p.M143N NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 322 Extracellular (Potential).|Ig-like C2-type 3. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TCCAACAAGATGGGCAGCATCC 0.48 NA 26 46 0 0 0.004672 0 0 CNTN2 6900 broad.mit.edu 37 1 205030523 205030523 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:205030523C>A uc001hbr.2 + 8 1217 c.948C>A c.(946-948)ACC>ACA p.T316T CNTN2_uc001hbq.1_Silent_p.T207T|CNTN2_uc009xbi.2_Silent_p.T207T|CNTN2_uc001hbs.2_Silent_p.T104T NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 316 Ig-like C2-type 3. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding ovary(1) 1 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GCCGAGACACCGTGCAGGGCC 0.642 Melanoma(183;2548 2817 37099 41192) NA OREG0014144 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 9 0.000566183 0.000622257 0.00499 1 0 NUAK2 81788 broad.mit.edu 37 1 205272824 205272824 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:205272824G>T uc001hce.2 - 7 1768 c.1641C>A c.(1639-1641)AGC>AGA p.S547R NM_030952 NP_112214 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 547 actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|stomach(1)|breast(1) 5 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) AGGACAGGATGCTGTCCTCGC 0.682 NA 12 34 0.000308642 0.000341227 0.003163 1 0 CR1 1378 broad.mit.edu 37 1 207700188 207700188 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:207700188G>T uc001hfy.2 + 6 1117 c.977G>T c.(976-978)TGT>TTT p.C326F CR1_uc009xcl.1_Intron|CR1_uc001hfx.2_Missense_Mutation_p.C326F|CR1_uc009xcj.1_Intron|CR1_uc009xck.1_Missense_Mutation_p.C326F|CR1_uc010psh.1_5'Flank NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 326 Sushi 5.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 TTCTACAGCTGTGAGCCCGGC 0.587 NA 42 176 6.81593e-30 1.20802e-29 0.00361 1 0 CD34 947 broad.mit.edu 37 1 208072464 208072464 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:208072464G>T uc001hgw.1 - 3 628 c.370C>A c.(370-372)CCA>ACA p.P124T CD34_uc001hgx.1_Missense_Mutation_p.P124T|CD34_uc010psj.1_Intron NM_001025109 NP_001020280 P28906 CD34_HUMAN CD34 antigen isoform a 124 Extracellular (Potential). cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding ovary(1) 1 ACGTTGGCTGGGGTGGTGAAC 0.463 NA 46 183 4.0181e-32 7.19003e-32 0.00361 1 0 PLXNA2 5362 broad.mit.edu 37 1 208391011 208391011 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:208391011C>A uc001hgz.2 - 2 1015 c.257G>T c.(256-258)GGG>GTG p.G86V PLXNA2_uc001hha.3_Missense_Mutation_p.G140V NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 86 Extracellular (Potential).|Sema. axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) CTCTTCTGGCCCTGTCTTATG 0.567 NA 39 39 1.02687e-29 1.81564e-29 0.003214 1 0 LAMB3 3914 broad.mit.edu 37 1 209791292 209791292 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:209791292G>A uc001hhg.2 - 19 3401 c.3011C>T c.(3010-3012)ACC>ATC p.T1004I LAMB3_uc009xco.2_Missense_Mutation_p.T1004I|LAMB3_uc001hhh.2_Missense_Mutation_p.T1004I NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 1004 Domain I.|Potential. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GGAGCGGCTGGTGCCTTGCAT 0.587 NA 27 98 0 0 0.002096 0 0 PTPN14 5784 broad.mit.edu 37 1 214557590 214557590 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:214557590C>A uc001hkk.1 - 13 1879 c.1608G>T c.(1606-1608)ACG>ACT p.T536T PTPN14_uc010pty.1_Silent_p.T437T NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 536 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GGGTGCTCACCGTGTGCGAGA 0.572 Colon(92;557 1424 24372 34121 40073) NA 24 144 7.33532e-06 8.71216e-06 0.003954 1 0 KCTD3 51133 broad.mit.edu 37 1 215793784 215793784 + Nonsense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:215793784G>T uc001hks.2 + 18 2566 c.2272G>T c.(2272-2274)GGA>TGA p.G758* KCTD3_uc001hkt.2_Nonsense_Mutation_p.G756*|KCTD3_uc010pub.1_Nonsense_Mutation_p.G656*|KCTD3_uc009xdn.2_Nonsense_Mutation_p.G482* NM_016121 NP_057205 Q9Y597 KCTD3_HUMAN potassium channel tetramerisation domain 758 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity ovary(3) 3 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) GAAGAAAGGAGGATTTGAAGG 0.413 NA 19 76 8.10497e-08 1.03987e-07 0.010504 1 0 USH2A 7399 broad.mit.edu 37 1 215847863 215847863 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:215847863A>T uc001hku.1 - 63 13777 c.13390T>A c.(13390-13392)TGG>AGG p.W4464R NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4464 Fibronectin type-III 30.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGAGGTTTCCAGGTGATTTCT 0.453 NA HNSCC(13;0.011) 36 105 0 0 0.00623 0 0 USH2A 7399 broad.mit.edu 37 1 216243462 216243462 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:216243462G>T uc001hku.1 - 30 6417 c.6030C>A c.(6028-6030)GTC>GTA p.V2010V NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2010 Extracellular (Potential).|Fibronectin type-III 6. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGCTTGTATTGACAAATTCAG 0.408 NA HNSCC(13;0.011) 21 61 7.07758e-08 9.1199e-08 0.004656 1 0 USH2A 7399 broad.mit.edu 37 1 216258067 216258067 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:216258067T>A uc001hku.1 - 25 5527 c.5140A>T c.(5140-5142)AAT>TAT p.N1714Y NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1714 Laminin G-like 2.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GCTCCCTCATTTAATGAAGCG 0.403 NA HNSCC(13;0.011) 12 83 0 0 0.003163 0 0 USH2A 7399 broad.mit.edu 37 1 216595579 216595579 + Silent SNP G G T rs141672841 by1000genomes TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:216595579G>T uc001hku.1 - 2 487 c.100C>A c.(100-102)CGA>AGA p.R34R USH2A_uc001hkv.2_Silent_p.R34R NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 34 Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AAAAGACCTCGTGACTCAGTC 0.458 NA HNSCC(13;0.011) 18 65 1.37522e-17 2.22762e-17 0.007413 1 0 SPATA17 128153 broad.mit.edu 37 1 217822223 217822223 + Splice_Site SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:217822223G>C uc001hlh.1 + 2 95 c.69_splice c.e2-1 p.S23_splice SPATA17_uc009xdr.1_Splice_Site|SPATA17_uc001hli.2_Splice_Site_p.S23_splice NM_138796 NP_620151 Q96L03 SPT17_HUMAN spermatogenesis associated 17 cytoplasm calmodulin binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) TTTTGTTTTAGTGTTGTAGAT 0.308 NA 12 64 0 0 0.001855 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220379258 220379258 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:220379258C>A uc010puk.1 - 8 867 c.703G>T c.(703-705)GTA>TTA p.V235L RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_5'UTR NM_012414 NP_036546 Q9H2M9 RBGPR_HUMAN rab3 GTPase-activating protein, non-catalytic 235 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(131;0.0443) CCTTTTGCTACCTGATTTCGA 0.308 NA 20 14 1.96895e-08 2.58414e-08 0.00278 1 0 MARK1 4139 broad.mit.edu 37 1 220835440 220835440 + Nonsense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:220835440C>T uc001hmn.3 + 18 2917 c.2320C>T c.(2320-2322)CGA>TGA p.R774* MARK1_uc009xdw.2_Nonsense_Mutation_p.R775*|MARK1_uc010pun.1_Nonsense_Mutation_p.R759*|MARK1_uc001hmm.3_Nonsense_Mutation_p.R737* NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 774 KA1. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1) 10 GBM - Glioblastoma multiforme(131;0.0407) TCGCTTCAAGCGAATATCTGG 0.438 NA 32 33 0 0 0.004878 0 0 HLX 3142 broad.mit.edu 37 1 221057824 221057824 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:221057824C>T uc001hmv.3 + 4 1702 c.1245C>T c.(1243-1245)CTC>CTT p.L415L NM_021958 NP_068777 Q14774 HLX_HUMAN H2.0-like homeobox 415 Ser-rich. cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 GBM - Glioblastoma multiforme(131;0.00914) CTGGCGCCCTCATTACCGCca 0.333 NA 5 11 0 0 0.001168 0 0 NID1 4811 broad.mit.edu 37 1 236205319 236205319 + Silent SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:236205319G>C uc001hxo.2 - 4 1128 c.1026C>G c.(1024-1026)CCC>CCG p.P342P NID1_uc009xgd.2_Silent_p.P342P NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 342 cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GAGGTCCAAGGGGCCTTTCGG 0.582 NA 30 24 0 0 0.003271 0 0 ACTN2 88 broad.mit.edu 37 1 236907948 236907948 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:236907948G>T uc001hyf.2 + 12 1482 c.1278G>T c.(1276-1278)CAG>CAT p.Q426H ACTN2_uc001hyg.2_Missense_Mutation_p.Q218H|ACTN2_uc009xgi.1_Missense_Mutation_p.Q426H|ACTN2_uc010pxu.1_Missense_Mutation_p.Q115H|ACTN2_uc001hyh.2_Missense_Mutation_p.Q114H NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 426 Spectrin 2. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) TCTTGCTGCAGAAGGATTACG 0.597 NA 18 14 6.33239e-15 9.74768e-15 0.010504 1 0 RYR2 6262 broad.mit.edu 37 1 237756790 237756790 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:237756790G>T uc001hyl.1 + 33 4410 c.4290G>T c.(4288-4290)GTG>GTT p.V1430V NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1430 Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATTACTCAGTGAGAATCTTTC 0.398 NA 26 20 4.74835e-14 7.16833e-14 0.002096 1 0 FMN2 56776 broad.mit.edu 37 1 240255893 240255893 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:240255893G>T uc010pyd.1 + 1 709 c.484G>T c.(484-486)GAT>TAT p.D162Y FMN2_uc010pye.1_Missense_Mutation_p.D162Y NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 162 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GATCGCCGAGGATGTGGAAAC 0.642 NA 22 13 1.37878e-21 2.32718e-21 0.00333 1 0 SMYD3 64754 broad.mit.edu 37 1 246093203 246093203 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:246093203T>A uc001ibl.2 - 6 663 c.568A>T c.(568-570)ATG>TTG p.M190L SMYD3_uc001ibk.2_Missense_Mutation_p.M131L|SMYD3_uc001ibi.2_Missense_Mutation_p.M1L|SMYD3_uc001ibj.2_Missense_Mutation_p.M1L NM_022743 NP_073580 Q9H7B4 SMYD3_HUMAN SET and MYND domain containing 3 190 SET. cytoplasm|nucleus histone-lysine N-methyltransferase activity|protein binding|zinc ion binding 0 all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242) all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164) OV - Ovarian serous cystadenocarcinoma(106;0.0129) all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537) ACTTCCTGCATCTCCGCATTA 0.453 NA 41 59 0 0 0.00361 0 0 OR13G1 441933 broad.mit.edu 37 1 247835510 247835510 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:247835510C>A uc001idi.1 - 1 834 c.834G>T c.(832-834)GTG>GTT p.V278V NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, 278 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) ATGTGGGAGTCACAAGAGTAT 0.438 NA 50 37 2.76378e-25 4.80111e-25 0.00361 1 0 OR2L3 391192 broad.mit.edu 37 1 248224661 248224661 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:248224661C>A uc001idx.1 + 1 678 c.678C>A c.(676-678)CAC>CAA p.H226Q OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 226 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CTGTCTACCACATGAAATCTG 0.463 NA 37 100 6.18754e-15 9.53459e-15 0.00361 1 0 OR2M2 391194 broad.mit.edu 37 1 248343895 248343895 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:248343895G>T uc010pzf.1 + 1 608 c.608G>T c.(607-609)TGT>TTT p.C203F NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 203 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TTCATCTGCTGTATAGTAATG 0.428 NA 173 107 1.5993e-79 2.99894e-79 0.00361 1 0 OR2M3 127062 broad.mit.edu 37 1 248366543 248366543 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:248366543C>A uc010pzg.1 + 1 174 c.174C>A c.(172-174)CCC>CCA p.P58P NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 58 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TCCACACCCCCATGTACCTCC 0.547 NA 195 146 2.57275e-87 4.84876e-87 0.00361 1 0 OR2M7 391196 broad.mit.edu 37 1 248487649 248487649 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:248487649G>A uc010pzk.1 - 1 222 c.222C>T c.(220-222)ATC>ATT p.I74I NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 74 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CAGTGGTGCAGATGAGCATGA 0.493 NA 169 135 0 0 0.00361 0 0 TUBB8 347688 broad.mit.edu 37 10 94620 94620 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:94620C>A uc001ifi.2 - 3 212 c.212G>T c.(211-213)GGC>GTC p.G71V TUBB8_uc009xhe.2_Intron|TUBB8_uc010pzs.1_5'UTR NM_177987 NP_817124 Q3ZCM7 TBB8_HUMAN tubulin, beta 8 isoform 1 71 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) GTCCATGGTGCCCGGCTCCAG 0.701 Pancreas(192;2041 3010 9013 18103) NA 20 41 1.42536e-11 2.05378e-11 0.004656 1 0 TAF3 83860 broad.mit.edu 37 10 8006747 8006747 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:8006747G>T uc010qbd.1 + 3 1274 c.1274G>T c.(1273-1275)AGA>ATA p.R425I NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN RNA polymerase II transcription factor TAFII140 425 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding ovary(1) 1 AGCCCTAAGAGAATTTCAGGC 0.493 NA 30 54 5.43694e-19 8.94328e-19 0.005524 1 0 FRMD4A 55691 broad.mit.edu 37 10 13735910 13735910 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:13735910G>A uc001ims.2 - 15 1457 c.1105C>T c.(1105-1107)CTG>TTG p.L369L FRMD4A_uc009xjf.1_Silent_p.L369L|FRMD4A_uc001imt.1_Silent_p.L402L|FRMD4A_uc001imu.1_Silent_p.L385L NM_018027 NP_060497 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 369 cytoplasm|cytoskeleton binding ovary(1)|skin(1)|pancreas(1) 3 GAAGACAGCAGGCTGCCGCTG 0.652 NA 12 18 0 0 0.001855 0 0 FAM171A1 221061 broad.mit.edu 37 10 15317910 15317910 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:15317910C>A uc001iob.2 - 3 369 c.362G>T c.(361-363)CGC>CTC p.R121L NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 121 Extracellular (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 AGTGGCAGAGCGTTCTGGAAG 0.333 NA 8 39 2.27111e-07 2.85232e-07 0.001368 1 0 ITGA8 8516 broad.mit.edu 37 10 15760770 15760770 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:15760770G>C uc001ioc.1 - 2 338 c.338C>G c.(337-339)ACC>AGC p.T113S ITGA8_uc010qcb.1_Missense_Mutation_p.T113S NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 113 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 CTTACTGGTGGTGTCAAACGG 0.597 NA 19 93 0 0 0.008871 0 0 GPR158 57512 broad.mit.edu 37 10 25883266 25883266 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:25883266G>T uc001isj.2 + 9 1998 c.1938G>T c.(1936-1938)CTG>CTT p.L646L GPR158_uc001isk.2_Silent_p.L21L NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 646 Helical; Name=7; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 TGTTGATGCTGTATTTTGCAC 0.323 NA 26 55 5.91797e-21 9.9323e-21 0.002445 1 0 MYO3A 53904 broad.mit.edu 37 10 26417319 26417319 + Splice_Site SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:26417319G>T uc001isn.2 + 20 2475 c.2115_splice c.e20-1 p.S705_splice MYO3A_uc009xko.1_Splice_Site_p.S705_splice|MYO3A_uc009xkp.1_Splice_Site|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 AATTCTTCTAGTGGGAATGGT 0.353 NA 6 45 1.12685e-05 1.32356e-05 0.004482 1 0 SVIL 6840 broad.mit.edu 37 10 29812817 29812817 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:29812817T>A uc001iut.1 - 15 3479 c.2726A>T c.(2725-2727)TAT>TTT p.Y909F SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Missense_Mutation_p.Y483F NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 909 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) AGAAAACTTATAGTCAGTGGC 0.468 NA 9 46 0 0 0.006214 0 0 ARHGAP12 94134 broad.mit.edu 37 10 32150432 32150432 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:32150432C>G uc001ivz.1 - 4 1109 c.839G>C c.(838-840)CGT>CCT p.R280P ARHGAP12_uc001ivy.1_Missense_Mutation_p.R278P|ARHGAP12_uc009xls.2_Missense_Mutation_p.R278P|ARHGAP12_uc001iwb.1_Missense_Mutation_p.R278P|ARHGAP12_uc001iwc.1_Missense_Mutation_p.R278P|ARHGAP12_uc009xlq.1_Missense_Mutation_p.R278P|ARHGAP12_uc001iwd.1_Missense_Mutation_p.R278P|ARHGAP12_uc009xlr.1_Missense_Mutation_p.R278P NM_018287 NP_060757 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 280 WW 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 Prostate(175;0.0199) GTAATAGCAACGCCCTGAGCT 0.478 NA 6 22 0 0 0.001168 0 0 NRP1 8829 broad.mit.edu 37 10 33486617 33486617 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:33486617T>A uc001iwx.3 - 12 2408 c.1885A>T c.(1885-1887)ACA>TCA p.T629S NRP1_uc001iwv.3_Missense_Mutation_p.T629S|NRP1_uc009xlz.2_Missense_Mutation_p.T622S|NRP1_uc001iww.3_Missense_Mutation_p.T441S|NRP1_uc001iwy.3_Missense_Mutation_p.T622S|NRP1_uc001iwz.2_Missense_Mutation_p.T629S|NRP1_uc001ixa.2_Missense_Mutation_p.T594S NM_003873 NP_003864 O14786 NRP1_HUMAN neuropilin 1 isoform a 629 Extracellular (Potential). axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 Palifermin(DB00039)|Pegaptanib(DB04895) GGCTTTTCTGTGGCCAGCACA 0.423 Melanoma(104;886 1489 44640 45944 51153) NA 8 28 0 0 0.004482 0 0 LRRC18 474354 broad.mit.edu 37 10 50121979 50121979 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:50121979G>T uc001jhd.2 - 1 302 c.222C>A c.(220-222)AAC>AAA p.N74K WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.N74K NM_001006939 NP_001006940 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 74 LRR 3. cytoplasm ovary(1)|pancreas(1) 2 GCCACCGGAGGTTCTGGAACT 0.547 NA 4 37 0.00024832 0.000277424 0.009096 1 0 DRGX 644168 broad.mit.edu 37 10 50574416 50574416 + Silent SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:50574416C>G uc010qgq.1 - 6 552 c.552G>C c.(550-552)CTG>CTC p.L184L NM_001080520 NP_001073989 A6NNA5 DRGX_HUMAN dorsal root ganglia homeobox 184 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 AGCAAGAGCACAGTGGGCCCC 0.587 NA 7 25 0 0 0.00308 0 0 CHAT 1103 broad.mit.edu 37 10 50827924 50827924 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:50827924C>A uc001jhz.2 + 3 694 c.541C>A c.(541-543)CAG>AAG p.Q181K CHAT_uc001jhv.1_Missense_Mutation_p.Q63K|CHAT_uc001jhx.1_Missense_Mutation_p.Q63K|CHAT_uc001jhy.1_Missense_Mutation_p.Q63K|CHAT_uc001jia.2_Missense_Mutation_p.Q63K|CHAT_uc010qgs.1_Missense_Mutation_p.Q63K NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 181 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3) 3 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) GACCCTGCAGCAGAAACTCCT 0.617 NA 4 11 1.23904e-05 1.44506e-05 0.000602 1 0 PRKG1 5592 broad.mit.edu 37 10 54053613 54053613 + Missense_Mutation SNP G G T rs142375882 TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:54053613G>T uc001jjm.2 + 18 2163 c.1969G>T c.(1969-1971)GAT>TAT p.D657Y PRKG1_uc001jjo.2_Missense_Mutation_p.D672Y|PRKG1_uc009xow.1_Missense_Mutation_p.D375Y|uc001jjq.1_Intron NM_001098512 NP_001091982 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I isoform 657 AGC-kinase C-terminal. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1) 6 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) TGAGGACAACGATGAACCACC 0.398 NA 20 41 1.85244e-09 2.5179e-09 0.00333 1 0 MBL2 4153 broad.mit.edu 37 10 54531325 54531325 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:54531325G>T uc001jjt.2 - 1 136 c.71C>A c.(70-72)ACC>AAC p.T24N NM_000242 NP_000233 P11226 MBL2_HUMAN soluble mannose-binding lectin precursor 24 Cys-rich. T -> A (in Chinese). acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding ovary(1) 1 ATCCTCACAGGTCACAGTTTC 0.547 NA 12 14 7.93312e-07 9.78967e-07 0.00245 1 0 PCDH15 65217 broad.mit.edu 37 10 55566680 55566680 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:55566680G>T uc010qhq.1 - 36 5103 c.4708C>A c.(4708-4710)CCT>ACT p.P1570T PCDH15_uc010qhr.1_Missense_Mutation_p.P1565T NM_001142771 NP_001136243 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD3-1 precursor 423 Cadherin 4.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) AGTCGAACAGGGGAAGCAACT 0.458 NA HNSCC(58;0.16) 28 52 5.77227e-19 9.48438e-19 0.008361 1 0 BICC1 80114 broad.mit.edu 37 10 60573602 60573602 + Missense_Mutation SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:60573602T>C uc001jki.1 + 18 2389 c.2389T>C c.(2389-2391)TCC>CCC p.S797P BICC1_uc001jkj.1_Missense_Mutation_p.S438P NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN bicaudal C homolog 1 797 multicellular organismal development RNA binding ovary(2)|lung(1)|skin(1) 4 CTCATCCATGTCCCTTTCACG 0.458 NA 29 71 0 0 0.004289 0 0 HKDC1 80201 broad.mit.edu 37 10 71020921 71020921 + Missense_Mutation SNP A A C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:71020921A>C uc001jpf.3 + 16 2376 c.2243A>C c.(2242-2244)TAC>TCC p.Y748S HKDC1_uc010qje.1_Missense_Mutation_p.Y611S|HKDC1_uc009xqb.2_RNA NM_025130 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 748 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity ovary(4)|skin(1) 5 AGTGGGATGTACTTGGGGGAG 0.458 NA 9 38 0 0 0.008291 0 0 NUDT13 25961 broad.mit.edu 37 10 74890529 74890529 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:74890529G>A uc001jtj.2 + 9 1052 c.927G>A c.(925-927)CTG>CTA p.L309L NUDT13_uc010qkc.1_Silent_p.L183L|NUDT13_uc010qkd.1_Silent_p.L112L|NUDT13_uc009xqw.2_RNA|NUDT13_uc001jtk.2_3'UTR|NUDT13_uc010qke.1_Silent_p.L112L|NUDT13_uc001jtl.2_Silent_p.L220L NM_015901 NP_056985 Q86X67 NUD13_HUMAN nudix-type motif 13 309 Nudix hydrolase. hydrolase activity|metal ion binding 0 Prostate(51;0.0119) CCACAGCCCTGAAGAGAAAGG 0.493 NA 3 27 0 0 0.004672 0 0 KCNMA1 3778 broad.mit.edu 37 10 78868308 78868308 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:78868308G>T uc001jxn.2 - 9 1331 c.1154C>A c.(1153-1155)CCT>CAT p.P385H KCNMA1_uc001jxj.2_Missense_Mutation_p.P385H|KCNMA1_uc001jxk.1_Intron|KCNMA1_uc009xrt.1_Missense_Mutation_p.P205H|KCNMA1_uc001jxl.1_Missense_Mutation_p.P39H|KCNMA1_uc001jxo.2_Missense_Mutation_p.P385H|KCNMA1_uc001jxm.2_Missense_Mutation_p.P385H|KCNMA1_uc001jxq.2_Missense_Mutation_p.P385H NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 385 Helical; Name=Segment S6; (Potential). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) TATGATTTCAGGGACGTAGCT 0.488 NA 21 37 1.10513e-12 1.63842e-12 0.002299 1 0 DLG5 9231 broad.mit.edu 37 10 79576327 79576327 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:79576327C>A uc001jzk.2 - 20 4077 c.4007G>T c.(4006-4008)GGG>GTG p.G1336V DLG5_uc001jzi.2_Missense_Mutation_p.G91V|DLG5_uc001jzj.2_Missense_Mutation_p.G751V|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.G940V NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 1336 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) TCTCCGCTCCCCGAGGGACGC 0.627 NA 27 83 8.88839e-20 1.46856e-19 0.002096 1 0 DLG5 9231 broad.mit.edu 37 10 79613233 79613233 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:79613233C>A uc001jzk.2 - 5 813 c.743G>T c.(742-744)AGG>ATG p.R248M DLG5_uc001jzj.2_Missense_Mutation_p.R3M|DLG5_uc009xru.1_RNA NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 248 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) ATTCTCCCGCCTCAGCATGTC 0.617 NA 6 18 0.000274275 0.000304364 0.004482 1 0 ANXA11 311 broad.mit.edu 37 10 81930597 81930597 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:81930597T>A uc001kbq.1 - 5 955 c.130A>T c.(130-132)ACC>TCC p.T44S ANXA11_uc010qlx.1_Missense_Mutation_p.T144S|ANXA11_uc001kbr.1_Missense_Mutation_p.T44S|ANXA11_uc001kbs.1_Missense_Mutation_p.T44S|ANXA11_uc001kbt.1_Missense_Mutation_p.T44S|ANXA11_uc010qly.1_Missense_Mutation_p.T11S|ANXA11_uc009xsq.1_Missense_Mutation_p.T44S|ANXA11_uc001kbu.1_Missense_Mutation_p.T44S NM_145869 NP_665876 P50995 ANX11_HUMAN annexin A11 44 cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding ovary(1) 1 Prostate(51;0.00985)|all_epithelial(25;0.0951) Colorectal(32;0.109) CCCGCATAGGTGGCCACGTTA 0.632 NA 22 56 0 0 0.00333 0 0 MMRN2 79812 broad.mit.edu 37 10 88696877 88696877 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:88696877G>T uc001kea.2 - 7 2600 c.2473C>A c.(2473-2475)CCT>ACT p.P825T MMRN2_uc010qmn.1_Missense_Mutation_p.P468T NM_024756 NP_079032 Q9H8L6 MMRN2_HUMAN multimerin 2 precursor 825 C1q. extracellular space large_intestine(1) 1 AAGGCCACAGGGGATCCTGAA 0.488 NA 5 21 3.59834e-05 4.13823e-05 0.001168 1 0 SLC16A12 387700 broad.mit.edu 37 10 91222194 91222194 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:91222194C>A uc001kgm.2 - 3 443 c.52G>T c.(52-54)GGC>TGC p.G18C NM_213606 NP_998771 Q6ZSM3 MOT12_HUMAN solute carrier family 16 (monocarboxylic acid 18 Extracellular (Potential). integral to membrane|plasma membrane symporter activity skin(1) 1 ATCATCCAGCCCCAGCCTCCA 0.468 NA 32 87 2.19358e-23 3.75789e-23 0.005524 1 0 KIF20B 9585 broad.mit.edu 37 10 91497935 91497935 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:91497935C>G uc001kgs.1 + 20 3409 c.3337C>G c.(3337-3339)CTA>GTA p.L1113V KIF20B_uc001kgr.1_Missense_Mutation_p.L1073V|KIF20B_uc001kgt.1_Missense_Mutation_p.L324V|KIF20B_uc009xtw.1_RNA NM_016195 NP_057279 Q96Q89 KI20B_HUMAN M-phase phosphoprotein 1 1113 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding ovary(1)|pancreas(1)|skin(1) 3 CCAAGATGACCTACTAAAAGA 0.333 NA 11 26 0 0 0.000978 0 0 HTR7 3363 broad.mit.edu 37 10 92508793 92508793 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:92508793C>A uc001kha.2 - 2 1341 c.1098G>T c.(1096-1098)GAG>GAT p.E366D HTR7_uc001kgz.2_Missense_Mutation_p.E366D|HTR7_uc001khb.2_Missense_Mutation_p.E366D NM_019859 NP_062873 P34969 5HT7R_HUMAN 5-hydroxytryptamine receptor 7 isoform d 366 Extracellular (By similarity). blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity ovary(1) 1 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) GAAATGTCCTCTCCACCCACA 0.542 NA 23 77 6.32553e-13 9.41548e-13 0.004656 1 0 PLCE1 51196 broad.mit.edu 37 10 96058414 96058414 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:96058414T>A uc001kjk.2 + 24 6080 c.5446T>A c.(5446-5448)TAC>AAC p.Y1816N PLCE1_uc010qnx.1_Missense_Mutation_p.Y1800N|PLCE1_uc001kjm.2_Missense_Mutation_p.Y1508N|PLCE1_uc001kjp.2_Missense_Mutation_p.Y174N NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 1816 PI-PLC Y-box. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) GGCACTCAACTACCAGACTGA 0.507 NA 35 129 0 0 0.002852 0 0 ALDH18A1 5832 broad.mit.edu 37 10 97373523 97373523 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:97373523G>A uc001kkz.2 - 15 2141 c.1899C>T c.(1897-1899)ATC>ATT p.I633I ALDH18A1_uc001kky.2_Silent_p.I631I|ALDH18A1_uc010qog.1_Silent_p.I522I|ALDH18A1_uc010qoh.1_Silent_p.I421I NM_002860 NP_002851 P54886 P5CS_HUMAN pyrroline-5-carboxylate synthetase isoform 1 633 Gamma-glutamyl phosphate reductase. proline biosynthetic process mitochondrial inner membrane ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity pancreas(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0402) Epithelial(162;9.1e-07)|all cancers(201;2.55e-05) L-Glutamic Acid(DB00142) GCATATCAATGATCTGGTCAA 0.443 NA 24 59 0 0 0.005443 0 0 CNNM1 26507 broad.mit.edu 37 10 101089340 101089340 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:101089340G>A uc001kpp.3 + 1 485 c.196G>A c.(196-198)GAA>AAA p.E66K CNNM1_uc009xwe.2_Missense_Mutation_p.E66K|CNNM1_uc010qpi.1_Missense_Mutation_p.E66K|CNNM1_uc009xwf.2_Missense_Mutation_p.E66K NM_020348 NP_065081 Q9NRU3 CNNM1_HUMAN cyclin M1 66 ion transport integral to membrane|plasma membrane 0 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) GCGCGCCGCCGAAGGCACCAG 0.642 NA 5 18 0 0 0.001984 0 0 ABCC2 1244 broad.mit.edu 37 10 101559009 101559009 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:101559009G>C uc001kqf.2 + 8 1052 c.913G>C c.(913-915)GTT>CTT p.V305L NM_000392 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), 305 Cytoplasmic (By similarity). apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CAAAAAAGATGTTCCAAAATC 0.393 NA 45 111 0 0 0.002852 0 0 FGF8 2253 broad.mit.edu 37 10 103534631 103534631 + Silent SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:103534631C>G uc001ktp.1 - 4 332 c.162G>C c.(160-162)GTG>GTC p.V54V FGF8_uc001ktq.1_Silent_p.V65V|FGF8_uc001ktr.1_Silent_p.V36V|FGF8_uc001kts.1_Silent_p.V25V|FGF8_uc009xwr.1_5'UTR NM_033164 NP_149354 P55075 FGF8_HUMAN fibroblast growth factor 8 isoform E precursor 54 bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation extracellular region|extracellular space growth factor activity|growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding 0 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) TCTGCTCCCTCACATGCTGTG 0.542 NA 16 24 0 0 0.00499 0 0 LDB1 8861 broad.mit.edu 37 10 103869187 103869187 + Silent SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:103869187G>C uc009xwz.2 - 9 1153 c.810C>G c.(808-810)CTC>CTG p.L270L LDB1_uc001kuk.3_Silent_p.L234L|LDB1_uc001kul.3_Silent_p.L234L NM_001113407 NP_001106878 Q86U70 LDB1_HUMAN LIM domain binding 1 isoform 1 270 histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery nuclear chromatin|protein complex LIM domain binding|protein homodimerization activity|transcription corepressor activity large_intestine(1) 1 Colorectal(252;0.122) Epithelial(162;1.11e-07)|all cancers(201;1.82e-06) GGCAGGTCTTGAGGCAGTCGC 0.592 NA 9 36 0 0 0.008291 0 0 PPRC1 23082 broad.mit.edu 37 10 103901572 103901572 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:103901572G>C uc001kum.2 + 5 3346 c.3307G>C c.(3307-3309)GAG>CAG p.E1103Q PPRC1_uc001kun.2_Missense_Mutation_p.E983Q|PPRC1_uc010qqj.1_Missense_Mutation_p.E1103Q|PPRC1_uc009xxa.2_RNA NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 1103 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GCTAAAGCCTGAGACCCAAGA 0.592 NA 3 8 0 0 0.004672 0 0 GBF1 8729 broad.mit.edu 37 10 104019846 104019846 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:104019846C>G uc001kux.1 + 3 376 c.136C>G c.(136-138)CTA>GTA p.L46V GBF1_uc001kuw.2_Missense_Mutation_p.L46V|GBF1_uc001kuy.1_Missense_Mutation_p.L46V|GBF1_uc001kuz.1_Missense_Mutation_p.L46V NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 46 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) TTTCGGTCATCTAAAGGAGGT 0.318 NA 30 78 0 0 0.005524 0 0 INA 9118 broad.mit.edu 37 10 105046872 105046872 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:105046872G>T uc001kws.2 + 2 1195 c.1146G>T c.(1144-1146)TTG>TTT p.L382F NM_032727 NP_116116 Q16352 AINX_HUMAN internexin neuronal intermediate filament 382 Coil 2.|Rod. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton ovary(1)|breast(1) 2 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) ACCAGGACTTGCTCAATGTCA 0.483 NA 10 32 2.17888e-05 2.52532e-05 0.006214 1 0 C10orf78 119392 broad.mit.edu 37 10 105883606 105883606 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:105883606C>T uc001kxu.2 + 3 283 c.270C>T c.(268-270)TCC>TCT p.S90S C10orf78_uc001kxs.2_Silent_p.S77S|C10orf78_uc001kxt.2_Silent_p.S44S|C10orf78_uc001kxv.2_Silent_p.S152S NM_001002759 NP_001002759 Q86XK3 SFR1_HUMAN hypothetical protein LOC119392 isoform a 90 double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding 0 Colorectal(252;0.102)|Breast(234;0.122) Epithelial(162;1.31e-09)|all cancers(201;3.84e-08)|BRCA - Breast invasive adenocarcinoma(275;0.014) CAGCATCTTCCACAGAGGAAA 0.303 NA 19 38 0 0 0.001882 0 0 SORCS3 22986 broad.mit.edu 37 10 106937921 106937921 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:106937921C>A uc001kyi.1 + 14 2226 c.1999C>A c.(1999-2001)CAC>AAC p.H667N SORCS3_uc010qqz.1_Intron NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 667 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AATGGAGACCCACATCATGAC 0.502 NSCLC(116;1497 1690 7108 13108 14106) NA 12 26 1.3612e-06 1.67559e-06 0.003163 1 0 SORCS3 22986 broad.mit.edu 37 10 106974319 106974319 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:106974319G>T uc001kyi.1 + 18 2722 c.2495G>T c.(2494-2496)CGG>CTG p.R832L SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 832 PKD.|Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) ACCGATGGGCGGCTGGTGGCA 0.582 NSCLC(116;1497 1690 7108 13108 14106) NA 10 29 4.3838e-07 5.45499e-07 0.001855 1 0 DUSP5 1847 broad.mit.edu 37 10 112258062 112258062 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:112258062G>T uc001kzd.2 + 1 438 c.183G>T c.(181-183)TCG>TCT p.S61S NM_004419 NP_004410 Q16690 DUS5_HUMAN dual specificity phosphatase 5 61 Nuclear localization signal (Potential).|Rhodanese. endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1) 1 Breast(234;0.0848) Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12) gcgcggTGTCGGCGCGCTACG 0.662 NA 3 16 0.004672 0.00493414 0.004672 1 0 ATRNL1 26033 broad.mit.edu 37 10 117061393 117061393 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:117061393C>T uc001lcg.2 + 17 3044 c.2658C>T c.(2656-2658)TGC>TGT p.C886C ATRNL1_uc010qsm.1_Silent_p.C61C|ATRNL1_uc010qsn.1_RNA NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 886 Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) CGAGGCCGTGCAAAAAGCCAT 0.378 NA 15 26 0 0 0.006122 0 0 PNLIPRP2 5408 broad.mit.edu 37 10 118404544 118404544 + Splice_Site SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:118404544G>T uc001lcq.2 + 16 1373 c.1350_splice c.e16-1 p.E450_splice NM_005396 NP_005387 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity large_intestine(1) 1 all cancers(201;0.015) TTCCTCCACAGGTATAATTTT 0.438 NA 5 11 0.000602214 0.00065942 0.000602 1 0 SEC23IP 11196 broad.mit.edu 37 10 121674267 121674267 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:121674267G>T uc001leu.1 + 7 1410 c.1338G>T c.(1336-1338)TTG>TTT p.L446F SEC23IP_uc010qtc.1_Missense_Mutation_p.L235F NM_007190 NP_009121 Q9Y6Y8 S23IP_HUMAN Sec23-interacting protein p125 446 Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding ovary(3) 3 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) TTGACCATTTGGTGTTTGTGG 0.373 NA 71 130 4.45923e-32 7.96979e-32 0.00361 1 0 FGFR2 2263 broad.mit.edu 37 10 123263308 123263308 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:123263308C>T uc010qtk.1 - 11 2082 c.1435G>A c.(1435-1437)GAT>AAT p.D479N FGFR2_uc010qtg.1_Missense_Mutation_p.D367N|FGFR2_uc010qth.1_Missense_Mutation_p.D364N|FGFR2_uc010qti.1_Missense_Mutation_p.D390N|FGFR2_uc010qtj.1_Missense_Mutation_p.D480N|FGFR2_uc010qtl.1_Missense_Mutation_p.D363N|FGFR2_uc010qtm.1_Missense_Mutation_p.D362N|FGFR2_uc001lfl.3_Missense_Mutation_p.D480N|FGFR2_uc001lfm.2_Missense_Mutation_p.D391N|FGFR2_uc001lfg.3_Missense_Mutation_p.D87N NM_000141 NP_000132 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 1 479 Cytoplasmic (Potential). angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1) 96 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) ACTCACTTATCTCTTGGAAAC 0.473 5 Mis gastric. NSCLC|endometrial Crouzon|Pfeiffer|and Apert syndromes Apert_syndrome|Saethre-Chotzen_syndrome 10 27 0 0 0.008291 0 0 PTPRE 5791 broad.mit.edu 37 10 129846042 129846042 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:129846042G>T uc001lkb.2 + 5 503 c.224G>T c.(223-225)AGG>ATG p.R75M PTPRE_uc009yat.2_Missense_Mutation_p.R86M|PTPRE_uc010qup.1_RNA|PTPRE_uc009yau.2_Missense_Mutation_p.R75M|PTPRE_uc001lkc.1_RNA|PTPRE_uc001lkd.2_Missense_Mutation_p.R17M|PTPRE_uc010quq.1_5'Flank NM_006504 NP_006495 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 75 Cytoplasmic (Potential). negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(1) 1 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) AGGAAGCAGAGGAAAGCTGTG 0.552 Colon(52;977 1184 20575 41685) NA 13 43 2.32078e-09 3.14299e-09 0.003163 1 0 Unknown 0 broad.mit.edu 37 10 134664626 134664626 + Missense_Mutation SNP C C A rs143825819 byFrequency TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:134664626C>A uc010qux.1 - 32 4936 c.4936G>T c.(4936-4938)GGC>TGC p.G1646C NM_017609 NP_060079 Homo sapiens cDNA, FLJ17989. NA ATTACCAGGCCGACGGAAGTG 0.632 NA 24 58 1.2476e-16 1.99696e-16 0.00632 1 0 FRG2B 441581 broad.mit.edu 37 10 135440114 135440114 + Nonsense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:135440114T>A uc010qvg.1 - 1 186 c.133A>T c.(133-135)AAG>TAG p.K45* NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 45 nucleus 0 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) AAGGCGGTCTTGCCTTTTTCT 0.507 NA 12 33 0 0 0.004007 0 0 NLRP6 171389 broad.mit.edu 37 11 281085 281085 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:281085G>C uc010qvs.1 + 4 1351 c.1351G>C c.(1351-1353)GAG>CAG p.E451Q NLRP6_uc010qvt.1_Missense_Mutation_p.E451Q NM_138329 NP_612202 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 451 NACHT. cytoplasm ATP binding upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CCTGGCCCGCGAGGGCGTCCT 0.627 NA 14 28 0 0 0.00245 0 0 IFITM2 10581 broad.mit.edu 37 11 309045 309045 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:309045C>T uc001lox.3 + 2 365 c.279C>T c.(277-279)ACC>ACT p.T93T NM_006435 NP_006426 Q01629 IFM2_HUMAN interferon induced transmembrane protein 2 93 Cytoplasmic (Potential). response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane protein binding 0 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122) GCGACGTGACCGGGGCCCAGG 0.602 NA 4 33 0 0 0.008291 0 0 TRPM5 29850 broad.mit.edu 37 11 2441587 2441587 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:2441587G>T uc001lwm.3 - 4 523 c.514C>A c.(514-516)CCC>ACC p.P172T TRPM5_uc010qxl.1_Missense_Mutation_p.P172T|TRPM5_uc009ydn.2_Missense_Mutation_p.P174T NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, 172 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) GAACAGAGGGGGCCCTGGCTG 0.667 NSCLC(1;49 61 17205 18850 43201) NA 17 30 1.33834e-09 1.82244e-09 0.007413 1 0 OR52K2 119774 broad.mit.edu 37 11 4470617 4470617 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:4470617G>T uc001lyz.1 + 1 48 c.48G>T c.(46-48)TTG>TTT p.L16F NM_001005172 NP_001005172 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, 16 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) CCTTCTTGTTGGTGGGGATTC 0.517 NA 16 36 4.96729e-08 6.42292e-08 0.008871 1 0 OR52R1 119695 broad.mit.edu 37 11 4825366 4825366 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:4825366G>T uc010qym.1 - 1 482 c.482C>A c.(481-483)CCT>CAT p.P161H NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, 82 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CAACATCTTAGGTTGAGTGGA 0.498 NA 17 43 3.41278e-10 4.72955e-10 0.00499 1 0 OR51G1 79324 broad.mit.edu 37 11 4944844 4944844 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:4944844G>T uc010qyr.1 - 1 726 c.726C>A c.(724-726)ACC>ACA p.T242T NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GAGAGACACAGGTGTTGAGGG 0.552 NA 15 76 8.28177e-16 1.30317e-15 0.007413 1 0 MMP26 56547 broad.mit.edu 37 11 5012612 5012612 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:5012612G>T uc001lzv.2 + 4 499 c.481G>T c.(481-483)GGT>TGT p.G161C NM_021801 NP_068573 Q9NRE1 MMP26_HUMAN matrix metalloproteinase 26 preproprotein 161 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) CCATGAAGATGGTTGGCCCTT 0.458 NA 86 162 7.62712e-44 1.40365e-43 0.00361 1 0 OR51B5 282763 broad.mit.edu 37 11 5364143 5364143 + Missense_Mutation SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:5364143T>C uc001map.1 - 1 612 c.612A>G c.(610-612)ATA>ATG p.I204M HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_001005567 NP_001005567 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, 204 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCAGCACAAATATAAAGACTA 0.453 NA 35 52 0 0 0.003755 0 0 OR51Q1 390061 broad.mit.edu 37 11 5443647 5443647 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:5443647C>A uc010qzd.1 + 1 217 c.217C>A c.(217-219)CTG>ATG p.L73M HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004757 NP_001004757 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, 73 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTGACGGACCTGGGTCTCAC 0.532 NA 16 80 3.51602e-12 5.14092e-12 0.008871 1 0 OR51I2 390064 broad.mit.edu 37 11 5474794 5474794 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:5474794T>A uc010qzf.1 + 1 76 c.76T>A c.(76-78)TGG>AGG p.W26R HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004754 NP_001004754 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, 26 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCTCACTCCTGGCTGTCAGG 0.547 NA 10 40 0 0 0.003163 0 0 OR51I2 390064 broad.mit.edu 37 11 5474804 5474804 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:5474804G>A uc010qzf.1 + 1 86 c.86G>A c.(85-87)GGG>GAG p.G29E HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004754 NP_001004754 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, 29 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGCTGTCAGGGCCCCTCTGC 0.547 NA 9 39 0 0 0.003163 0 0 OR52N4 390072 broad.mit.edu 37 11 5776462 5776462 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:5776462C>T uc001mbu.2 + 1 540 c.492C>T c.(490-492)CTC>CTT p.L164L TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, 164 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) TTACTTTCCTCACCAAGCTCC 0.463 NA 27 50 0 0 0.002836 0 0 OR56A1 120796 broad.mit.edu 37 11 6048549 6048549 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:6048549C>A uc010qzw.1 - 1 386 c.386G>T c.(385-387)CGT>CTT p.R129L NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, 129 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCCACATAACGGTCATAGGC 0.507 NA 9 37 5.4927e-09 7.31868e-09 0.004482 1 0 CNGA4 1262 broad.mit.edu 37 11 6261363 6261363 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:6261363G>T uc001mco.2 + 4 446 c.339G>T c.(337-339)TGG>TGT p.W113C CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Missense_Mutation_p.W73C NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 113 Helical; Name=H3; (Potential). response to stimulus|sensory perception of smell cAMP binding skin(1) 1 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTCGCACCTGGAGTTTCTTCT 0.617 NA 17 100 2.94398e-08 3.84684e-08 0.007413 1 0 CNGA4 1262 broad.mit.edu 37 11 6262679 6262679 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:6262679C>A uc001mco.2 + 5 1043 c.936C>A c.(934-936)ATC>ATA p.I312I CNGA4_uc010raa.1_Silent_p.I81I|CNGA4_uc001mcn.2_Silent_p.I272I NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 312 Cytoplasmic (Potential). response to stimulus|sensory perception of smell cAMP binding skin(1) 1 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCTGCAGATCAACAAGAAGA 0.562 NA 11 57 3.86212e-05 4.42789e-05 0.008291 1 0 OR10A2 341276 broad.mit.edu 37 11 6891001 6891001 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:6891001C>A uc001meu.1 + 1 16 c.16C>A c.(16-18)CTG>ATG p.L6M NM_001004460 NP_001004460 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, 6 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) CTTCTCTTCCCTGCCTACTGA 0.443 NA 27 149 7.11191e-15 1.0925e-14 0.002836 1 0 OR10A2 341276 broad.mit.edu 37 11 6891503 6891503 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:6891503G>A uc001meu.1 + 1 518 c.518G>A c.(517-519)AGG>AAG p.R173K NM_001004460 NP_001004460 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, 173 Extracellular (Potential). R -> K (in Ref. 4; AAK95109). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) CCTGTGCTGAGGCTGGTCTGT 0.507 NA 5 94 0 0 0.000602 0 0 OR10A4 283297 broad.mit.edu 37 11 6898039 6898039 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:6898039C>A uc010rat.1 + 1 161 c.161C>A c.(160-162)TCT>TAT p.S54Y NM_207186 NP_997069 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, 54 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ATAGCTGACTCTGCACTACAA 0.453 NA 26 103 8.4185e-14 1.26448e-13 0.002445 1 0 ZNF214 7761 broad.mit.edu 37 11 7021487 7021487 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:7021487C>A uc001mfa.2 - 3 1730 c.1427G>T c.(1426-1428)GGG>GTG p.G476V ZNF214_uc010ray.1_Missense_Mutation_p.G476V|ZNF214_uc009yfh.1_Missense_Mutation_p.G476V NM_013249 NP_037381 Q9UL59 ZN214_HUMAN zinc finger protein 214 476 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) GAAGCCCTTCCCACATTCAGG 0.443 Ovarian(22;251 657 736 21522 46864) NA 10 50 1.61879e-10 2.25599e-10 0.001368 1 0 EIF4G2 1982 broad.mit.edu 37 11 10827457 10827457 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:10827457C>G uc001mjc.2 - 4 662 c.245G>C c.(244-246)AGA>ACA p.R82T EIF4G2_uc001mjb.2_5'UTR|EIF4G2_uc009ygf.2_5'UTR|EIF4G2_uc001mjd.2_Missense_Mutation_p.R82T|EIF4G2_uc001mjf.1_5'UTR NM_001418 NP_001409 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 82 MIF4G. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) AACTTACCCTCTTACTTTCCT 0.433 NA 51 124 0 0 0.00361 0 0 USH1C 10083 broad.mit.edu 37 11 17553016 17553016 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:17553016C>G uc001mnf.2 - 3 287 c.178G>C c.(178-180)GAT>CAT p.D60H USH1C_uc001mne.2_Missense_Mutation_p.D60H|USH1C_uc009yhb.2_Missense_Mutation_p.D60H|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.D24H NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN harmonin isoform a 60 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding ovary(1) 1 CGAATGGCATCAAACAGAGGC 0.617 NA 14 17 0 0 0.004007 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18194994 18194994 + Missense_Mutation SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:18194994A>G uc001mnv.1 + 1 611 c.191A>G c.(190-192)TAC>TGC p.Y64C NM_054032 NP_473373 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 64 Helical; Name=2; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 GTCTCCATCTACATCCTCAAC 0.537 NA 8 44 0 0 0.004482 0 0 IGSF22 283284 broad.mit.edu 37 11 18739579 18739579 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:18739579G>T uc009yht.2 - 9 1062 c.872C>A c.(871-873)ACC>AAC p.T291N IGSF22_uc001mpa.2_RNA NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 291 Ig-like 2. ovary(4)|large_intestine(2)|kidney(1) 7 CATGTACTTGGTGCCCATCTG 0.532 NA 17 65 2.35188e-11 3.34985e-11 0.006122 1 0 PTPN5 84867 broad.mit.edu 37 11 18754793 18754793 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:18754793C>A uc001mpd.2 - 11 1638 c.1207G>T c.(1207-1209)GAG>TAG p.E403* PTPN5_uc001mpb.2_Nonsense_Mutation_p.E371*|PTPN5_uc001mpc.2_Nonsense_Mutation_p.E403*|PTPN5_uc001mpe.2_Nonsense_Mutation_p.E371*|PTPN5_uc010rdj.1_Nonsense_Mutation_p.E347*|PTPN5_uc001mpf.2_Nonsense_Mutation_p.E379*|PTPN5_uc010rdk.1_Nonsense_Mutation_p.E348* NM_006906 NP_008837 P54829 PTN5_HUMAN protein-tyrosine-phosphatase non-receptor 5 403 Tyrosine-protein phosphatase. integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity ovary(2) 2 TCGTTCATCTCCTCGATGTTG 0.433 NA 32 69 1.90571e-15 2.9798e-15 0.004289 1 0 NAV2 89797 broad.mit.edu 37 11 20113751 20113751 + Splice_Site SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:20113751G>T uc001mpr.3 + 28 6023 c.5662_splice c.e28-1 p.S1888_splice NAV2_uc001mpp.2_Splice_Site_p.S1821_splice|NAV2_uc009yhx.2_Splice_Site_p.S949_splice|NAV2_uc009yhz.2_Splice_Site_p.S530_splice|NAV2_uc001mpu.2_Splice_Site_p.S323_splice NM_182964 NP_892009 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 1 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 ACTCTTTGCAGAGTGAAATAG 0.488 NA 18 43 4.96729e-08 6.42292e-08 0.008871 1 0 MUC15 143662 broad.mit.edu 37 11 26582746 26582746 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:26582746G>A uc001mqx.2 - 4 1137 c.871C>T c.(871-873)CCT>TCT p.P291S ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.P318S|MUC15_uc001mqy.2_Missense_Mutation_p.P268S NM_145650 NP_663625 Q8N387 MUC15_HUMAN mucin 15 isoform b 291 Cytoplasmic (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 ACATCATAAGGTTCCGGTGCA 0.378 NA 3 28 0 0 0.009096 0 0 KCNA4 3739 broad.mit.edu 37 11 30033752 30033752 + Silent SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:30033752A>T uc001msk.2 - 2 1626 c.474T>A c.(472-474)CCT>CCA p.P158P NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 158 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CCTCATCCTGAGGCAGCAGAT 0.403 NA 7 54 0 0 0.00308 0 0 Unknown 0 broad.mit.edu 37 11 31086068 31086068 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:31086068C>T uc009yjk.1 - 8 952 c.883G>A c.(883-885)GTA>ATA p.V295I uc009yjl.1_Missense_Mutation_p.V223I|DCDC1_uc001msu.1_Missense_Mutation_p.V466I RecName: Full=Doublecortin domain-containing protein 5; NA ACCAGTGCTACTGTCAGCTCC 0.488 NA 36 69 0 0 0.00874 0 0 ELP4 26610 broad.mit.edu 37 11 31671690 31671690 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:31671690G>T uc001mtb.2 + 9 1099 c.1064G>T c.(1063-1065)CGG>CTG p.R355L ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Missense_Mutation_p.R355L|ELP4_uc010rdz.1_Missense_Mutation_p.R356L NM_019040 NP_061913 Q96EB1 ELP4_HUMAN elongation protein 4 homolog 355 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|prostate(1) 3 Lung SC(675;0.225) CAGATTCCTCGGCTTAATAAC 0.284 NA 4 33 4.096e-09 5.49211e-09 0.001168 1 0 C11orf41 25758 broad.mit.edu 37 11 33667548 33667548 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:33667548G>T uc001mup.3 + 16 4977 c.4853G>T c.(4852-4854)CGC>CTC p.R1618L NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 1612 integral to membrane ovary(2) 2 CCGACCTACCGCCCAGAAATG 0.627 NA 3 10 2.56e-06 3.10246e-06 0.009096 1 0 FBXO3 26273 broad.mit.edu 37 11 33777464 33777464 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:33777464G>A uc001muz.2 - 5 559 c.531C>T c.(529-531)GTC>GTT p.V177V FBXO3_uc010rej.1_5'Flank|FBXO3_uc001muy.2_Silent_p.V64V|FBXO3_uc009ykb.2_RNA|FBXO3_uc001mva.1_Silent_p.V177V|FBXO3_uc001mvb.1_Silent_p.V172V|FBXO3_uc010rek.1_Intron NM_012175 NP_036307 Q9UK99 FBX3_HUMAN F-box only protein 3 isoform 1 177 proteolysis nucleus ubiquitin-protein ligase activity p.V177I(1) pancreas(1) 1 Lung NSC(402;0.0804) BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008) CAGCTGTATCGACGTCTAACA 0.453 NA 3 47 0 0 0.000602 0 0 NAT10 55226 broad.mit.edu 37 11 34129826 34129826 + Silent SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:34129826A>G uc001mvk.2 + 2 298 c.54A>G c.(52-54)GTA>GTG p.V18V NAT10_uc010ren.1_Intron NM_024662 NP_078938 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 isoform a 18 nucleolus ATP binding|N-acetyltransferase activity|protein binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) AGAATGGAGTAGCTGAGCGGC 0.408 NA 35 87 0 0 0.004878 0 0 PAMR1 25891 broad.mit.edu 37 11 35496271 35496271 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:35496271G>T uc001mwg.2 - 4 444 c.401C>A c.(400-402)GCC>GAC p.A134D PAMR1_uc001mwf.2_Missense_Mutation_p.A134D|PAMR1_uc010rew.1_Intron|PAMR1_uc010rex.1_Missense_Mutation_p.A94D NM_001001991 NP_001001991 Q6UXH9 PAMR1_HUMAN regeneration associated muscle protease isoform 134 CUB. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 ACCCTTTGGGGCTCGCAGAAC 0.433 NA 13 39 1.99824e-07 2.51812e-07 0.00499 1 0 RAG1 5896 broad.mit.edu 37 11 36594961 36594961 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:36594961G>T uc001mwu.3 + 2 231 c.107G>T c.(106-108)AGA>ATA p.R36I RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 36 Interaction with importin alpha-1. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) TTCCGGGTGAGATCCTTTGAA 0.468 Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363) NA Familial_Hemophagocytic_Lymphohistiocytosis 11 33 1.58986e-06 1.94739e-06 0.008291 1 0 TTC17 55761 broad.mit.edu 37 11 43423014 43423014 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:43423014G>T uc001mxi.2 + 10 1252 c.1238G>T c.(1237-1239)CGA>CTA p.R413L TTC17_uc001mxh.2_Missense_Mutation_p.R413L|TTC17_uc010rfj.1_Missense_Mutation_p.R356L|TTC17_uc001mxj.2_Missense_Mutation_p.R183L NM_018259 NP_060729 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 413 binding ovary(5) 5 CAGATATGCCGACTGGTCAAC 0.398 NA 5 22 6.5536e-12 9.53542e-12 0.00308 1 0 NR1H3 10062 broad.mit.edu 37 11 47282960 47282960 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:47282960A>T uc009ylm.2 + 5 889 c.668A>T c.(667-669)CAG>CTG p.Q223L NR1H3_uc009yll.1_Missense_Mutation_p.Q229L|NR1H3_uc010rhk.1_Missense_Mutation_p.Q229L|NR1H3_uc001nek.2_Missense_Mutation_p.Q178L|NR1H3_uc001nej.2_Missense_Mutation_p.Q223L|NR1H3_uc001nel.2_Missense_Mutation_p.Q178L|NR1H3_uc001nen.3_Missense_Mutation_p.Q223L|NR1H3_uc001nem.2_Missense_Mutation_p.Q223L|NR1H3_uc001nep.2_Missense_Mutation_p.Q132L NM_005693 NP_005684 Q13133 NR1H3_HUMAN nuclear receptor subfamily 1, group H, member 3 223 Ligand-binding (Potential). apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis nuclear chromatin|nucleoplasm cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding ovary(2)|lung(1) 3 GCCCAGCAACAGTGTAACCGG 0.617 NA 12 42 0 0 0.003163 0 0 MADD 8567 broad.mit.edu 37 11 47312232 47312232 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:47312232G>T uc001ner.1 + 20 3417 c.3226G>T c.(3226-3228)GGG>TGG p.G1076W MADD_uc001neq.2_Missense_Mutation_p.G1056W|MADD_uc001nev.1_Missense_Mutation_p.G1013W|MADD_uc001nes.1_Missense_Mutation_p.G1033W|MADD_uc001net.1_Missense_Mutation_p.G1076W|MADD_uc009yln.1_Missense_Mutation_p.G1013W|MADD_uc001neu.1_Missense_Mutation_p.G1013W|MADD_uc001nex.2_Missense_Mutation_p.G1076W|MADD_uc001nez.2_Missense_Mutation_p.G1013W|MADD_uc001new.2_Missense_Mutation_p.G1056W|MADD_uc009ylo.2_5'UTR NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 1076 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) TGGCCTAGCTGGGCGGGGGGA 0.537 NA 7 35 0.00307968 0.00328514 0.00308 1 0 OR4A15 81328 broad.mit.edu 37 11 55135425 55135425 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:55135425G>A uc010rif.1 + 1 66 c.66G>A c.(64-66)CTG>CTA p.L22L NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TCCGACACCTGAGTCCAACAC 0.408 NA 6 32 0 0 0.001984 0 0 OR4A15 81328 broad.mit.edu 37 11 55136164 55136164 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:55136164G>T uc010rif.1 + 1 805 c.805G>T c.(805-807)GCA>TCA p.A269S NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 269 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CTACACCTGTGCATCCCACGT 0.423 NA 29 61 2.12542e-12 3.1323e-12 0.00632 1 0 OR4C15 81309 broad.mit.edu 37 11 55321886 55321886 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:55321886G>T uc010rig.1 + 1 104 c.104G>T c.(103-105)TGT>TTT p.C35F NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, Error:Variant_position_missing_in_Q8NGM1_after_alignment sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 ATTTTCCTTTGTCCTAATTGC 0.378 NA HNSCC(20;0.049) 8 69 5.4927e-09 7.31868e-09 0.004482 1 0 OR4C11 219429 broad.mit.edu 37 11 55371142 55371142 + Silent SNP G G A rs146621611 byFrequency TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:55371142G>A uc010rii.1 - 1 708 c.708C>T c.(706-708)TCC>TCT p.S236S NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, 236 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ACGTGCAAGCGGAGAGAGCCT 0.413 NA 5 25 0 0 0.001168 0 0 OR4C6 219432 broad.mit.edu 37 11 55433503 55433503 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:55433503G>A uc001nht.3 + 3 1126 c.861G>A c.(859-861)CTG>CTA p.L287L OR4C6_uc010rik.1_Silent_p.L287L NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 287 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 TCTATACACTGAGGAATGCAG 0.453 NA 14 31 0 0 0.007413 0 0 OR5D13 390142 broad.mit.edu 37 11 55540930 55540930 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:55540930G>C uc010ril.1 + 1 17 c.17G>C c.(16-18)AGA>ACA p.R6T NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 6 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R6I(1) ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) GCATCTGAAAGAAATCAAAGC 0.378 NA 10 73 0 0 0.003163 0 0 SPRYD5 84767 broad.mit.edu 37 11 55653632 55653632 + Nonsense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:55653632G>T uc010rip.1 + 3 537 c.445G>T c.(445-447)GAA>TAA p.E149* SPRYD5_uc010riq.1_Nonsense_Mutation_p.E6* NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 149 intracellular zinc ion binding 0 all_epithelial(135;0.226) GTCTTTATGGGAAAAAGCTTG 0.408 NA 3 28 0.00024832 0.000277424 0.009096 1 0 OR5AS1 219447 broad.mit.edu 37 11 55798346 55798346 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:55798346G>T uc010riw.1 + 1 452 c.452G>T c.(451-453)AGT>ATT p.S151I NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 151 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) GCATATTTCAGTGGAAGTACA 0.448 NA 9 111 0.00829132 0.00871937 0.008291 1 0 OR5AS1 219447 broad.mit.edu 37 11 55798392 55798392 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:55798392G>T uc010riw.1 + 1 498 c.498G>T c.(496-498)CTG>CTT p.L166L NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 166 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) CATTCAGGCTGTCATTTTGTG 0.438 NA 15 162 2.35188e-11 3.34985e-11 0.006122 1 0 OR5AS1 219447 broad.mit.edu 37 11 55798567 55798567 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:55798567G>T uc010riw.1 + 1 673 c.673G>T c.(673-675)GTG>TTG p.V225L NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 225 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) CCTCATCACTGTGTTGAGCAT 0.448 NA 39 74 4.42602e-33 7.94867e-33 0.00874 1 0 OR5T3 390154 broad.mit.edu 37 11 56020058 56020058 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:56020058C>G uc010rjd.1 + 1 383 c.383C>G c.(382-384)GCA>GGA p.A128G NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 128 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) ATCGGATGTGCAACACAGATG 0.373 NA 12 90 0 0 0.00245 0 0 OR8J1 219477 broad.mit.edu 37 11 56127745 56127745 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:56127745G>T uc010rjh.1 + 1 23 c.23G>T c.(22-24)AGG>ATG p.R8M NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, 8 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) AATTTCACCAGAGTCACTGAG 0.453 NA 11 24 9.05144e-12 1.30675e-11 0.001855 1 0 OR5M3 219482 broad.mit.edu 37 11 56237279 56237279 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:56237279C>A uc010rjk.1 - 1 695 c.695G>T c.(694-696)AGG>ATG p.R232M NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, 232 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) GGCCTTCTGCCTTCCTTCTGC 0.443 NA 7 31 2.0095e-06 2.44928e-06 0.001984 1 0 P2RX3 5024 broad.mit.edu 37 11 57114087 57114087 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:57114087G>A uc001nju.2 + 2 265 c.189G>A c.(187-189)AAG>AAA p.K63K NM_002559 NP_002550 P56373 P2RX3_HUMAN purinergic receptor P2X3 63 Extracellular (Potential). positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity 0 TGGTAACCAAGGTGAAGGGCT 0.542 NA 11 34 0 0 0.001368 0 0 OR10W1 81341 broad.mit.edu 37 11 58034486 58034486 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:58034486G>T uc001nmq.1 - 1 1247 c.845C>A c.(844-846)GCC>GAC p.A282D NM_207374 NP_997257 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, 282 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) GTTCCTCAGGGCATAGATAAG 0.537 NA 31 59 3.03874e-20 5.04309e-20 0.003271 1 0 OR5B2 390190 broad.mit.edu 37 11 58190537 58190537 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:58190537C>A uc010rkg.1 - 1 198 c.198G>T c.(196-198)CTG>CTT p.L66L NM_001005566 NP_001005566 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, 66 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) CAAAGTCCACCAGAGACAGGT 0.507 NA 28 46 8.4185e-14 1.26448e-13 0.002445 1 0 PLAC1L 219990 broad.mit.edu 37 11 59811111 59811111 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:59811111C>G uc001nol.2 + 2 419 c.234C>G c.(232-234)ATC>ATG p.I78M NM_173801 NP_776162 Q86WS3 PLACL_HUMAN placenta-specific 1-like precursor 78 extracellular region ovary(2)|skin(1) 3 ATTGTGGCATCAGGACAAGGG 0.323 NA 6 44 0 0 0.001984 0 0 MS4A3 932 broad.mit.edu 37 11 59828659 59828659 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:59828659C>G uc001nom.2 + 2 154 c.26C>G c.(25-27)GCA>GGA p.A9G MS4A3_uc001non.2_Missense_Mutation_p.A9G|MS4A3_uc001noo.2_Intron NM_006138 NP_006129 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 9 Cytoplasmic (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity ovary(2)|skin(1) 3 all_epithelial(135;0.245) GTTGATAATGCAGAGCTGGGG 0.493 NA 19 28 0 0 0.001882 0 0 CD5 921 broad.mit.edu 37 11 60886854 60886854 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:60886854C>A uc009ynk.2 + 5 715 c.612C>A c.(610-612)CTC>CTA p.L204L NM_014207 NP_055022 P06127 CD5_HUMAN CD5 molecule precursor 204 Extracellular (Potential).|SRCR 2. cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity ovary(1) 1 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) GCAACAACCTCCAGTGTGGCT 0.607 NA 5 47 0.00198382 0.00213454 0.001984 1 0 VWCE 220001 broad.mit.edu 37 11 61026292 61026293 + Missense_Mutation DNP GG GG AA TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:61026292_61026293GG>AA uc001nra.2 - 20 3001_3002 c.2722_2723CC>TT c.(2722-2724)CCC>TTC p.P908F VWCE_uc001nrb.2_RNA NM_152718 NP_689931 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 908 extracellular region calcium ion binding ovary(1) 1 GGTCTTCGAGGGGCTGGGGTCC 0.649 NA 18 35 0 0 0.004672 0 0 VWCE 220001 broad.mit.edu 37 11 61026361 61026361 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:61026361G>A uc001nra.2 - 20 2933 c.2654C>T c.(2653-2655)TCC>TTC p.S885F VWCE_uc001nrb.2_RNA NM_152718 NP_689931 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 885 extracellular region calcium ion binding ovary(1) 1 AGGCCACCTGGACACTATCTG 0.647 NA 3 11 0 0 0.004672 0 0 FERMT3 83706 broad.mit.edu 37 11 63988070 63988070 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:63988070G>T uc001nyl.2 + 12 1635 c.1486G>T c.(1486-1488)GCC>TCC p.A496S FERMT3_uc001nym.2_Missense_Mutation_p.A492S NM_178443 NP_848537 Q86UX7 URP2_HUMAN fermitin family homolog 3 long form 496 FERM. integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding ovary(1) 1 CGGCCCTGATGCCTCTGCCGA 0.672 NA 6 5 0.00198382 0.00213454 0.001984 1 0 NPAS4 266743 broad.mit.edu 37 11 66191339 66191339 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:66191339G>T uc001ohx.1 + 7 1154 c.978G>T c.(976-978)TTG>TTT p.L326F NPAS4_uc010rpc.1_Missense_Mutation_p.L116F NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 326 transcription, DNA-dependent DNA binding|signal transducer activity 0 GCCAGCAGTTGAACTCTGAAG 0.552 NA 24 48 4.59853e-10 6.34324e-10 0.005443 1 0 CCDC87 55231 broad.mit.edu 37 11 66358319 66358319 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:66358319C>A uc001oiq.3 - 1 2236 c.2168G>T c.(2167-2169)CGG>CTG p.R723L CCS_uc001oir.2_5'Flank NM_018219 NP_060689 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 723 ovary(1)|skin(1) 2 CTTCAGGGCCCGCTCCCAGGC 0.552 NA 12 86 4.3838e-07 5.45499e-07 0.001855 1 0 MRGPRF 116535 broad.mit.edu 37 11 68777350 68777350 + Nonsense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:68777350C>T uc001ooo.3 - 2 387 c.20G>A c.(19-21)TGG>TAG p.W7* MRGPRF_uc001oop.3_Nonsense_Mutation_p.W7*|uc001ooq.2_5'Flank NM_001098515 NP_001091985 Q96AM1 MRGRF_HUMAN MAS-related GPR, member F 7 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) ATGGGCCTCCCAGGAGCAGTT 0.677 NA 13 38 0 0 0.004007 0 0 PDE2A 5138 broad.mit.edu 37 11 72290346 72290346 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:72290346G>T uc010rrc.1 - 27 2581 c.2338C>A c.(2338-2340)CTC>ATC p.L780I PDE2A_uc001oso.2_Missense_Mutation_p.L759I|PDE2A_uc010rra.1_Missense_Mutation_p.L773I|PDE2A_uc001osn.2_Missense_Mutation_p.L524I|PDE2A_uc010rrb.1_Missense_Mutation_p.L771I|PDE2A_uc010rrd.1_Missense_Mutation_p.L665I NM_002599 NP_002590 O00408 PDE2A_HUMAN phosphodiesterase 2A isoform 1 780 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(2)|breast(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) ATCTTCTGGAGGTCCTTGAAG 0.607 NA 16 80 3.51602e-12 5.14092e-12 0.008871 1 0 C2CD3 26005 broad.mit.edu 37 11 73759293 73759293 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:73759293C>A uc001ouu.2 - 28 5679 c.5452G>T c.(5452-5454)GCT>TCT p.A1818S C2CD3_uc001out.2_RNA NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1818 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) GAGGCATGAGCAAGTTGGTCT 0.468 NA 8 13 1.76689e-08 2.32305e-08 0.006214 1 0 C11orf30 56946 broad.mit.edu 37 11 76248853 76248853 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:76248853G>A uc001oxl.2 + 16 2517 c.2374G>A c.(2374-2376)GAA>AAA p.E792K C11orf30_uc001oxm.2_Missense_Mutation_p.E708K|C11orf30_uc010rsb.1_Missense_Mutation_p.E807K|C11orf30_uc010rsc.1_Missense_Mutation_p.E807K|C11orf30_uc001oxn.2_Missense_Mutation_p.E793K|C11orf30_uc010rsd.1_Intron|C11orf30_uc001oxo.1_Missense_Mutation_p.E160K|C11orf30_uc010rse.1_Intron NM_020193 NP_064578 Q7Z589 EMSY_HUMAN EMSY protein 792 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 GGAAAAATTGGAATCTAAACC 0.393 NA 6 29 0 0 0.00308 0 0 MYO7A 4647 broad.mit.edu 37 11 76915168 76915168 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:76915168G>A uc001oyb.2 + 39 5646 c.5374G>A c.(5374-5376)GTC>ATC p.V1792I MYO7A_uc001oyc.2_Missense_Mutation_p.V1754I|MYO7A_uc001oye.2_RNA NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 1792 MyTH4 2. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 GACACGCTCCGTCAACGAGCT 0.592 NA 3 9 0 0 0.009096 0 0 MYO7A 4647 broad.mit.edu 37 11 76922953 76922953 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:76922953A>T uc001oyb.2 + 46 6597 c.6325A>T c.(6325-6327)ACC>TCC p.T2109S MYO7A_uc001oyc.2_Missense_Mutation_p.T2071S|MYO7A_uc001oye.2_RNA NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 2109 FERM 2. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 CAAGTGGCCCACCTTTGGCTC 0.562 NA 7 24 0 0 0.00308 0 0 INTS4 92105 broad.mit.edu 37 11 77690143 77690143 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:77690143G>C uc001oys.2 - 4 398 c.370C>G c.(370-372)CAT>GAT p.H124D INTS4_uc001oyt.2_Intron|INTS4_uc001oyu.1_Missense_Mutation_p.H124D|INTS4_uc001oyv.1_RNA NM_033547 NP_291025 Q96HW7 INT4_HUMAN integrator complex subunit 4 124 snRNA processing integrator complex protein binding ovary(2) 2 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) AGGACTTGATGAGACTCTAGA 0.378 NA 17 48 0 0 0.00499 0 0 C11orf82 220042 broad.mit.edu 37 11 82644525 82644525 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:82644525G>C uc001ozt.2 + 6 2389 c.2145G>C c.(2143-2145)GAG>GAC p.E715D C11orf82_uc010rsr.1_Missense_Mutation_p.E414D|C11orf82_uc010rss.1_Missense_Mutation_p.E414D|C11orf82_uc009yvd.2_Intron NM_145018 NP_659455 Q8IXT1 NOXIN_HUMAN nitric oxide-inducible gene protein 715 apoptosis|cell cycle arrest cytoplasm|nucleus ovary(2) 2 ACCCTTCAGAGTCTGATTTTT 0.373 NA 12 60 0 0 0.000978 0 0 C11orf82 220042 broad.mit.edu 37 11 82644895 82644895 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:82644895G>T uc001ozt.2 + 6 2759 c.2515G>T c.(2515-2517)GTA>TTA p.V839L C11orf82_uc010rsr.1_Missense_Mutation_p.V538L|C11orf82_uc010rss.1_Missense_Mutation_p.V538L|C11orf82_uc009yvd.2_Intron NM_145018 NP_659455 Q8IXT1 NOXIN_HUMAN nitric oxide-inducible gene protein 839 apoptosis|cell cycle arrest cytoplasm|nucleus ovary(2) 2 AAGCCCTATTGTATCTGGTGT 0.398 NA 3 22 0.004672 0.00493414 0.004672 1 0 CREBZF 58487 broad.mit.edu 37 11 85375702 85375702 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:85375702A>T uc001pas.2 - 1 481 c.218T>A c.(217-219)GTG>GAG p.V73E CREBZF_uc010rtc.1_RNA|CREBZF_uc010rtd.1_RNA NM_001039618 NP_001034707 Q9NS37 ZHANG_HUMAN HCF-binding transcription factor Zhangfei 73 negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) GCGCACGGCCACGCCGCCGCG 0.711 NSCLC(172;674 2044 9050 18334 41735) NA 11 41 0 0 0.000978 0 0 CCDC89 220388 broad.mit.edu 37 11 85396236 85396236 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:85396236C>A uc001pau.1 - 1 1085 c.938G>T c.(937-939)CGG>CTG p.R313L NM_152723 NP_689936 Q8N998 CCD89_HUMAN coiled-coil domain containing 89 313 Potential. cytoplasm|nucleus 0 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) TTGCTCAAACCGCTCCAGCGC 0.512 NA 20 33 4.35082e-09 5.82853e-09 0.010504 1 0 GRM5 2915 broad.mit.edu 37 11 88330451 88330451 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:88330451G>C uc001pcq.2 - 5 1664 c.1464C>G c.(1462-1464)GAC>GAG p.D488E GRM5_uc009yvm.2_Missense_Mutation_p.D488E NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 488 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) ATTCTCCATTGTCCCAACTTC 0.353 NA 8 20 0 0 0.006214 0 0 FAT3 120114 broad.mit.edu 37 11 92533858 92533858 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:92533858G>T uc001pdj.3 + 9 7696 c.7679G>T c.(7678-7680)CGG>CTG p.R2560L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2560 Cadherin 23.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGGCTAGACCGGGAAAACCCT 0.473 NA TCGA Ovarian(4;0.039) 4 22 5.9392e-07 7.35353e-07 0.001168 1 0 FAT3 120114 broad.mit.edu 37 11 92590415 92590415 + Nonsense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:92590415G>T uc001pdj.3 + 19 11418 c.11401G>T c.(11401-11403)GAG>TAG p.E3801* FAT3_uc001pdi.3_Nonsense_Mutation_p.E241* NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 3801 EGF-like 1.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TCCTTGTGTGGAGAAGCCGTG 0.557 NA TCGA Ovarian(4;0.039) 20 31 8.10497e-08 1.03987e-07 0.010504 1 0 CEP57 9702 broad.mit.edu 37 11 95555060 95555060 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:95555060G>C uc001pfp.1 + 7 946 c.725G>C c.(724-726)AGA>ACA p.R242T CEP57_uc001pfo.1_Missense_Mutation_p.R242T|CEP57_uc010ruh.1_Missense_Mutation_p.R233T|CEP57_uc010rui.1_Missense_Mutation_p.R242T|CEP57_uc009ywn.1_Missense_Mutation_p.R90T|CEP57_uc001pfq.1_Missense_Mutation_p.R242T|CEP57_uc001pfr.1_Missense_Mutation_p.R90T NM_014679 NP_055494 Q86XR8 CEP57_HUMAN translokin 242 Potential. fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development centrosome|cytosol|Golgi apparatus|microtubule|nucleus fibroblast growth factor binding|protein homodimerization activity ovary(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GAAACAAATAGACTTATCTTT 0.363 NA Mosaic_Variegated_Aneuploidy_Syndrome 9 13 0 0 0.008291 0 0 MMP27 64066 broad.mit.edu 37 11 102562575 102562575 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:102562575C>G uc001phd.1 - 10 1487 c.1464G>C c.(1462-1464)AAG>AAC p.K488N NM_022122 NP_071405 Q9H306 MMP27_HUMAN matrix metalloproteinase 27 precursor 488 collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) GATACAATATCTTTATGCCTC 0.299 NA 15 25 0 0 0.004007 0 0 MMP3 4314 broad.mit.edu 37 11 102709892 102709892 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:102709892C>A uc001phj.1 - 7 1083 c.1018G>T c.(1018-1020)GTG>TTG p.V340L NM_002422 NP_002413 P08254 MMP3_HUMAN matrix metalloproteinase 3 preproprotein 340 Hemopexin-like 2. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding lung(1)|kidney(1) 2 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) GCGGCATCCACGCCTGAAGGA 0.378 NA 13 49 4.75885e-15 7.35593e-15 0.00499 1 0 MMP3 4314 broad.mit.edu 37 11 102712964 102712964 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:102712964G>T uc001phj.1 - 4 611 c.546C>A c.(544-546)GCC>GCA p.A182A NM_002422 NP_002413 P08254 MMP3_HUMAN matrix metalloproteinase 3 preproprotein 182 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding lung(1)|kidney(1) 2 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) CATAGGCATGGGCCAAAACAT 0.418 NA 13 29 0.00316338 0.003372 0.003163 1 0 GRIA4 2893 broad.mit.edu 37 11 105850454 105850454 + Silent SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:105850454G>C uc001pix.2 + 17 3143 c.2697G>C c.(2695-2697)TCG>TCC p.S899S GRIA4_uc001piw.2_3'UTR|GRIA4_uc009yxl.1_RNA NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 899 Cytoplasmic (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) TCATTGCATCGGACCTACCAT 0.502 NA 5 14 0 0 0.001168 0 0 EXPH5 23086 broad.mit.edu 37 11 108382214 108382214 + Silent SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:108382214T>A uc001pkk.2 - 6 4131 c.4020A>T c.(4018-4020)CTA>CTT p.L1340L EXPH5_uc010rvy.1_Silent_p.L1152L|EXPH5_uc010rvz.1_Silent_p.L1184L|EXPH5_uc010rwa.1_Silent_p.L1264L NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 1340 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) ATGTAGGAGCTAGGGGCCCCC 0.413 NA 12 17 0 0 0.004007 0 0 ZW10 9183 broad.mit.edu 37 11 113644334 113644334 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:113644334C>A uc001poe.2 - 1 92 c.55G>T c.(55-57)GAT>TAT p.D19Y ZW10_uc009yyv.2_RNA NM_004724 NP_004715 O43264 ZW10_HUMAN centromere/kinetochore protein zw10 19 Interaction with RINT1.|Interaction with ZWINT.|Potential. cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) GTCCCCAGATCCTCCTTTTCC 0.632 NA 10 59 6.42651e-13 9.55622e-13 0.000978 1 0 BUD13 84811 broad.mit.edu 37 11 116628652 116628652 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:116628652C>A uc001ppn.2 - 8 1548 c.1514G>T c.(1513-1515)CGG>CTG p.R505L BUD13_uc001ppo.2_Missense_Mutation_p.R371L NM_032725 NP_116114 Q9BRD0 BUD13_HUMAN BUD13 homolog isoform 1 505 Potential. large_intestine(1)|pancreas(1) 2 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) TTGCTGTTGCCGGCTCTGGGC 0.468 NA 16 25 2.35188e-11 3.34985e-11 0.006122 1 0 CEP164 22897 broad.mit.edu 37 11 117242165 117242165 + Missense_Mutation SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:117242165A>G uc001prc.2 + 9 1282 c.1135A>G c.(1135-1137)AGT>GGT p.S379G CEP164_uc001prb.2_Missense_Mutation_p.S379G|CEP164_uc010rxk.1_Missense_Mutation_p.S353G|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA NM_014956 NP_055771 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 379 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) GGAAGAGGGCAGTTCAGACGC 0.582 NA 15 32 0 0 0.006122 0 0 DSCAML1 57453 broad.mit.edu 37 11 117389215 117389215 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:117389215G>T uc001prh.1 - 7 1658 c.1656C>A c.(1654-1656)GGC>GGA p.G552G DSCAML1_uc001pri.1_Silent_p.G356G NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 492 Extracellular (Potential).|Ig-like C2-type 5. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) ATTCAGCACTGCCCACCAAGT 0.532 NA 16 84 4.96729e-08 6.42292e-08 0.008871 1 0 AMICA1 120425 broad.mit.edu 37 11 118083145 118083145 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:118083145G>C uc001psk.2 - 3 349 c.175C>G c.(175-177)CTG>GTG p.L59V AMICA1_uc001psh.2_Missense_Mutation_p.L20V|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Missense_Mutation_p.L49V|AMICA1_uc001psj.2_Missense_Mutation_p.L59V|AMICA1_uc010rxw.1_Missense_Mutation_p.L20V|AMICA1_uc010rxx.1_Missense_Mutation_p.L59V|AMICA1_uc001psl.1_Missense_Mutation_p.L15V NM_001098526 NP_001091996 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen 59 Ig-like V-type 1.|Extracellular (Potential). blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane ovary(1) 1 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) CCTGGTGACAGAGTCCAGTCT 0.502 NA 22 61 0 0 0.00632 0 0 TRIM29 23650 broad.mit.edu 37 11 120008148 120008148 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:120008148G>A uc001pwz.2 - 1 716 c.592C>T c.(592-594)CAT>TAT p.H198Y TRIM29_uc001pxa.2_RNA NM_012101 NP_036233 Q14134 TRI29_HUMAN tripartite motif protein TRIM29 198 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|breast(1)|kidney(1)|skin(1) 4 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) GGCTTGAGATGCAGCTCGCAG 0.652 NA 9 17 0 0 0.008291 0 0 OAF 220323 broad.mit.edu 37 11 120097704 120097704 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:120097704A>T uc001pxb.2 + 3 787 c.546A>T c.(544-546)CAA>CAT p.Q182H NM_178507 NP_848602 Q86UD1 OAF_HUMAN OAF homolog precursor 182 0 Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.1e-06) GGCTGGAGCAAGGTCAGCTGG 0.662 NA 9 11 0 0 0.000978 0 0 GRIK4 2900 broad.mit.edu 37 11 120827647 120827647 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:120827647G>T uc001pxn.2 + 16 2146 c.1859G>T c.(1858-1860)TGT>TTT p.C620F GRIK4_uc009zav.1_Missense_Mutation_p.C620F|GRIK4_uc009zaw.1_Missense_Mutation_p.C620F|GRIK4_uc009zax.1_Missense_Mutation_p.C620F NM_014619 NP_055434 Q16099 GRIK4_HUMAN glutamate receptor KA1 precursor 620 Cytoplasmic (Potential). glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|central_nervous_system(1) 3 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) TCCACCCGCTGTGTCAGTGGC 0.627 NA 5 14 1.024e-07 1.31153e-07 0.000602 1 0 GRIK4 2900 broad.mit.edu 37 11 120852872 120852872 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:120852872T>A uc001pxn.2 + 20 2740 c.2453T>A c.(2452-2454)GTG>GAG p.V818E GRIK4_uc009zaw.1_Missense_Mutation_p.V818E|GRIK4_uc009zax.1_Missense_Mutation_p.V818E NM_014619 NP_055434 Q16099 GRIK4_HUMAN glutamate receptor KA1 precursor 818 Helical; (Potential). glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|central_nervous_system(1) 3 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) GGCTTAATCGTGGCCATTTTT 0.383 NA 31 75 0 0 0.003271 0 0 SCN3B 55800 broad.mit.edu 37 11 123508911 123508911 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:123508911C>A uc001pza.1 - 5 974 c.567G>T c.(565-567)GAG>GAT p.E189D SCN3B_uc001pzb.1_Missense_Mutation_p.E189D NM_001040151 NP_001035241 Q9NY72 SCN3B_HUMAN voltage-gated sodium channel beta-3 subunit 189 Cytoplasmic (Potential). axon guidance integral to membrane|plasma membrane voltage-gated sodium channel activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227) CTTGGGCTGCCTCTTCGGCTT 0.323 NA 6 18 2.0095e-06 2.44928e-06 0.001984 1 0 OR10G8 219869 broad.mit.edu 37 11 123900510 123900510 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:123900510C>T uc001pzp.1 + 1 181 c.181C>T c.(181-183)CTC>TTC p.L61F NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 61 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) GTACTACTTCCTCACCAACCT 0.527 NA 18 112 0 0 0.008871 0 0 CCDC15 80071 broad.mit.edu 37 11 124847487 124847487 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:124847487G>T uc001qbm.3 + 6 1003 c.744G>T c.(742-744)ATG>ATT p.M248I NM_025004 NP_079280 Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 248 centrosome ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) AGAATTATATGGAAAATCAGG 0.398 NA 5 9 3.59834e-05 4.13823e-05 0.001168 1 0 SPATA19 219938 broad.mit.edu 37 11 133714491 133714491 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:133714491G>C uc001qgv.1 - 3 231 c.180C>G c.(178-180)ATC>ATG p.I60M NM_174927 NP_777587 Q7Z5L4 SPT19_HUMAN spermatogenesis associated 19 precursor 60 cell differentiation|multicellular organismal development|spermatogenesis mitochondrial outer membrane 0 all_hematologic(175;0.127) all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117) Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207) AAGGGTGGTTGATGGACAGCT 0.512 NA 5 56 0 0 0.000602 0 0 IGSF9B 22997 broad.mit.edu 37 11 133790145 133790145 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:133790145C>T uc001qgx.3 - 18 3706 c.3475G>A c.(3475-3477)GGC>AGC p.G1159S NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1159 Pro-rich.|Cytoplasmic (Potential). integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CTGGGGCCGCCGTGCGCCCCC 0.682 NA 10 39 0 0 0.001855 0 0 CACNA1C 775 broad.mit.edu 37 12 2800282 2800282 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:2800282G>A uc009zdu.1 + 50 6896 c.6583G>A c.(6583-6585)GAG>AAG p.E2195K CACNA1C_uc009zdv.1_Missense_Mutation_p.E2109K|CACNA1C_uc001qkb.2_Missense_Mutation_p.E2112K|CACNA1C_uc001qkc.2_Missense_Mutation_p.E2131K|CACNA1C_uc001qke.2_Missense_Mutation_p.E2101K|CACNA1C_uc001qkf.2_Missense_Mutation_p.E2120K|CACNA1C_uc001qjz.2_Missense_Mutation_p.E2112K|CACNA1C_uc001qkd.2_Missense_Mutation_p.E2131K|CACNA1C_uc001qkg.2_Missense_Mutation_p.E2118K|CACNA1C_uc009zdw.1_Missense_Mutation_p.E2153K|CACNA1C_uc001qkh.2_Missense_Mutation_p.E2120K|CACNA1C_uc001qkl.2_Missense_Mutation_p.E2160K|CACNA1C_uc001qkn.2_Missense_Mutation_p.E2112K|CACNA1C_uc001qko.2_Missense_Mutation_p.E2132K|CACNA1C_uc001qkp.2_Missense_Mutation_p.E2112K|CACNA1C_uc001qkr.2_Missense_Mutation_p.E2129K|CACNA1C_uc001qku.2_Missense_Mutation_p.E2147K|CACNA1C_uc001qkq.2_Missense_Mutation_p.E2140K|CACNA1C_uc001qks.2_Missense_Mutation_p.E2112K|CACNA1C_uc001qkt.2_Missense_Mutation_p.E2131K|CACNA1C_uc001qki.1_Missense_Mutation_p.E1919K|CACNA1C_uc001qkj.1_Missense_Mutation_p.E1883K|CACNA1C_uc001qkk.1_Missense_Mutation_p.E1848K|CACNA1C_uc001qkm.1_Missense_Mutation_p.E1908K|CACNA1C_uc010sea.1_Missense_Mutation_p.E803K|uc001qkx.1_RNA|CACNA1C_uc001qky.1_Missense_Mutation_p.E430K NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 2195 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CGGGGGCGAAGAGGACGCGGG 0.692 NA 15 11 0 0 0.006122 0 0 CCND2 894 broad.mit.edu 37 12 4385191 4385191 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:4385191C>A uc001qmo.2 + 2 521 c.216C>A c.(214-216)TGC>TGA p.C72* NM_001759 NP_001750 P30279 CCND2_HUMAN cyclin D2 72 Cyclin N-terminal. cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding haematopoietic_and_lymphoid_tissue(1)|breast(1)|kidney(1) 3 all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206) AACAGAAGTGCGAAGAAGAGG 0.532 NA T IGL@ NHL,CLL 9 70 1.08611e-07 1.38156e-07 0.000978 1 0 C12orf4 57102 broad.mit.edu 37 12 4598990 4598990 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:4598990G>C uc001qms.2 - 14 1730 c.1642C>G c.(1642-1644)CTG>GTG p.L548V C12orf4_uc001qmt.2_Missense_Mutation_p.L548V NM_020374 NP_065107 Q9NQ89 CL004_HUMAN hypothetical protein LOC57102 548 0 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) BRCA - Breast invasive adenocarcinoma(232;0.0281) TTGGATGTCAGAGTGAGTGTT 0.378 NA 47 65 0 0 0.00361 0 0 NTF3 4908 broad.mit.edu 37 12 5604066 5604066 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:5604066C>T uc001qnl.3 + 1 769 c.686C>T c.(685-687)TCA>TTA p.S229L NTF3_uc001qnk.3_Missense_Mutation_p.S242L NM_002527 NP_002518 P20783 NTF3_HUMAN neurotrophin 3 isoform 2 preproprotein 229 signal transduction extracellular region growth factor activity|neurotrophin receptor binding pancreas(1) 1 GCACTGACTTCAGAGAACAAT 0.488 GBM(194;1104 2182 8339 9578 18493) NA 8 41 0 0 0.006214 0 0 CD9 928 broad.mit.edu 37 12 6344465 6344465 + Missense_Mutation SNP G G T rs35799798 byFrequency TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:6344465G>T uc001qnp.1 + 6 863 c.419G>T c.(418-420)CGG>CTG p.R140L CD9_uc010sev.1_Missense_Mutation_p.R140L|CD9_uc001qnq.1_Missense_Mutation_p.R140L NM_001769 NP_001760 P21926 CD9_HUMAN CD9 antigen 140 Extracellular (Potential). cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation integral to plasma membrane|platelet alpha granule membrane ovary(1) 1 GAGCCCCAGCGGGAAACGCTG 0.537 NA 31 46 1.61788e-16 2.57855e-16 0.002445 1 0 CD4 920 broad.mit.edu 37 12 6925297 6925297 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:6925297C>A uc001qqv.1 + 6 928 c.683C>A c.(682-684)ACA>AAA p.T228K CD4_uc009zez.1_3'UTR|CD4_uc009zfa.1_RNA|CD4_uc009zfb.1_RNA|CD4_uc010sfj.1_5'UTR|CD4_uc009zfc.1_Missense_Mutation_p.T49K|CD4_uc010sfk.1_5'UTR|CD4_uc010sfl.1_5'UTR|CD4_uc010sfm.1_5'UTR NM_000616 NP_000607 P01730 CD4_HUMAN CD4 antigen precursor 228 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding 0 Myeloproliferative disorder(1001;0.0122) CTCGCCTTTACAGTTGAAAAG 0.552 NA 15 91 1.15088e-07 1.4602e-07 0.004007 1 0 SLC2A3 6515 broad.mit.edu 37 12 8075439 8075439 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:8075439C>A uc001qtr.2 - 9 1512 c.1250G>T c.(1249-1251)GGA>GTA p.G417V NM_006931 NP_008862 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose 417 Helical; Name=11; (Potential). carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity ovary(3)|pancreas(1) 4 Kidney(36;0.0866) GAAGAGCAATCCGACTAGGAA 0.512 Colon(96;424 1461 14416 20933 23688) NA 26 38 8.4185e-14 1.26448e-13 0.002445 1 0 PZP 5858 broad.mit.edu 37 12 9312562 9312562 + Nonsense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:9312562G>A uc001qvl.2 - 25 3138 c.3109C>T c.(3109-3111)CGA>TGA p.R1037* PZP_uc009zgl.2_Nonsense_Mutation_p.R823* NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 CTGCCATATCGTTCCCCAAAG 0.403 Melanoma(125;1402 1695 4685 34487 38571) NA 41 80 0 0 0.00361 0 0 DDX12 440081 broad.mit.edu 37 12 9577158 9577158 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:9577158C>A uc010sgs.1 - 18 2036 c.1841G>T c.(1840-1842)CGG>CTG p.R614L NM_004400 NP_004391 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12 0 GACCACTGCCCGGCATTCCTT 0.572 NA 8 49 1.12685e-05 1.32356e-05 0.004482 1 0 OLR1 4973 broad.mit.edu 37 12 10319353 10319353 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:10319353G>C uc001qxo.1 - 3 496 c.382C>G c.(382-384)CTG>GTG p.L128V OLR1_uc010sgz.1_Missense_Mutation_p.L24V|OLR1_uc010sha.1_Missense_Mutation_p.L128V NM_002543 NP_002534 P78380 OLR1_HUMAN oxidized low density lipoprotein (lectin-like) 128 Extracellular (Potential).|Neck. blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis extracellular region|integral to plasma membrane|membrane fraction sugar binding ovary(1) 1 TGGAGATTCAGATTCTGGTGG 0.423 NA 30 62 0 0 0.002445 0 0 TAS2R7 50837 broad.mit.edu 37 12 10955157 10955157 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:10955157C>A uc001qyv.2 - 1 70 c.13G>T c.(13-15)GTG>TTG p.V5L NM_023919 NP_076408 Q9NYW3 TA2R7_HUMAN taste receptor, type 2, member 7 5 Extracellular (Potential). sensory perception of taste integral to membrane taste receptor activity skin(1) 1 GTAGTCTGCACTTTATCTGCC 0.383 NA 13 140 0.00185496 0.00200605 0.001855 1 0 PRB1 5542 broad.mit.edu 37 12 11506604 11506604 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:11506604C>T uc001qzw.1 - 3 470 c.433G>A c.(433-435)GGA>AGA p.G145R PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron NM_005039 NP_005030 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 isoform 1 206 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].|8. Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S). extracellular region 0 OV - Ovarian serous cystadenocarcinoma(49;0.185) GACTTGTCTCCTTGTGGGGGT 0.607 NA 12 118 0 0 0.002096 0 0 PRB2 653247 broad.mit.edu 37 12 11546699 11546699 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:11546699C>T uc010shk.1 - 3 348 c.313G>A c.(313-315)GGA>AGA p.G105R NM_006248 NP_006239 proline-rich protein BstNI subfamily 2 0 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) GACTTGTCTCCTTGTGGGGGT 0.607 NA 61 494 0 0 0.00361 0 0 GPRC5A 9052 broad.mit.edu 37 12 13061883 13061883 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:13061883C>T uc001rba.2 + 2 1350 c.700C>T c.(700-702)CCT>TCT p.P234S GPRC5A_uc001raz.2_Missense_Mutation_p.P234S NM_003979 NP_003970 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, 234 Extracellular (Potential). cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity 0 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) GCTCATGCTTCCTGACTTTGA 0.572 NA 33 46 0 0 0.002445 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18446839 18446839 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:18446839T>A uc001rdt.2 + 5 1040 c.924T>A c.(922-924)AAT>AAA p.N308K PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.N308K|PIK3C2G_uc010sic.1_Missense_Mutation_p.N86K NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma 308 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) CTTTAGCTAATTATCTTGTCA 0.313 NA 7 8 0 0 0.00308 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20868121 20868121 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:20868121G>C uc001rej.3 + 7 933 c.578G>C c.(577-579)GGC>GCC p.G193A SLCO1C1_uc010sii.1_Missense_Mutation_p.G193A|SLCO1C1_uc010sij.1_Intron|SLCO1C1_uc009zip.2_Missense_Mutation_p.G27A|SLCO1C1_uc001rei.2_Missense_Mutation_p.G193A|SLCO1C1_uc010sik.1_Missense_Mutation_p.G75A NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 193 Helical; Name=4; (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) GTTTTCCTGGGCAATCTTCTT 0.403 NA 50 91 0 0 0.00361 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21355454 21355455 + Missense_Mutation DNP GG GG TT TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:21355454_21355455GG>TT uc001req.3 + 10 1269_1270 c.1165_1166GG>TT c.(1165-1167)GGA>TTA p.G389L NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 389 Helical; Name=8; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TTTTGCAAGTGGAATGTTTTTA 0.297 NA 6 24 0 0 0.004672 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:25398285C>A uc001rgp.1 - 2 215 c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 8 18 5.16669e-11 7.3031e-11 0.000978 1 0 Unknown 0 broad.mit.edu 37 12 31289572 31289572 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:31289572C>A uc010sjy.1 - 16 2187 c.2187G>T c.(2185-2187)TGG>TGT p.W729C RecName: Full=Ovostatin homolog 1; Flags: Precursor; NA TGACGAGGTCCCACATCCATG 0.363 NA 19 25 3.2961e-07 4.12567e-07 0.004878 1 0 BICD1 636 broad.mit.edu 37 12 32369271 32369271 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:32369271G>A uc001rku.2 + 2 385 c.304G>A c.(304-306)GAG>AAG p.E102K BICD1_uc001rkv.2_Missense_Mutation_p.E102K|BICD1_uc010skd.1_RNA NM_001714 NP_001705 Q96G01 BICD1_HUMAN bicaudal D homolog 1 isoform 1 102 Potential. anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton large_intestine(1)|central_nervous_system(1) 2 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) AGCATCGAAGGAGGCTTACTA 0.542 NA 27 30 0 0 0.00632 0 0 C12orf40 283461 broad.mit.edu 37 12 40076933 40076933 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:40076933G>A uc001rmc.2 + 8 1374 c.1207G>A c.(1207-1209)GAA>AAA p.E403K C12orf40_uc009zjv.1_RNA NM_001031748 NP_001026918 Q86WS4 CL040_HUMAN hypothetical protein LOC283461 403 ovary(6) 6 AAGCAGCTCTGAAAGAAAAGG 0.254 NA 14 22 0 0 0.006122 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43771274 43771274 + Missense_Mutation SNP C C A rs112430320 TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:43771274C>A uc010skx.1 - 32 4889 c.4889G>T c.(4888-4890)CGG>CTG p.R1630L NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1630 TSP type-1 14. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) AACTATAGGCCGAAGTCGATG 0.413 NA 5 11 0.000602214 0.00065942 0.000602 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43925971 43925971 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:43925971C>A uc010skx.1 - 3 481 c.481G>T c.(481-483)GAA>TAA p.E161* NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 161 proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) AAGAAATATTCACCGTTCTGT 0.343 NA 19 36 8.10497e-08 1.03987e-07 0.010504 1 0 ANO6 196527 broad.mit.edu 37 12 45751133 45751133 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:45751133G>C uc001roo.2 + 8 1259 c.924G>C c.(922-924)ATG>ATC p.M308I ANO6_uc010sld.1_Missense_Mutation_p.M308I|ANO6_uc010sle.1_Missense_Mutation_p.M308I|ANO6_uc010slf.1_Missense_Mutation_p.M329I|ANO6_uc010slg.1_Missense_Mutation_p.M290I NM_001025356 NP_001020527 Q4KMQ2 ANO6_HUMAN anoctamin 6 isoform a 308 Helical; (Potential). activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity ovary(1)|kidney(1) 2 ACACTCAGATGCTTCTCCTGG 0.393 NA 18 58 0 0 0.002299 0 0 COL2A1 1280 broad.mit.edu 37 12 48381440 48381440 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:48381440C>A uc001rqu.2 - 19 1356 c.1175G>T c.(1174-1176)CGC>CTC p.R392L COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.R323L NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 392 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) AGGTTCACCGCGAGGACCTTG 0.617 NA 6 10 0.000442599 0.000487515 0.006214 1 0 CCNT1 904 broad.mit.edu 37 12 49088075 49088075 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:49088075T>A uc001rse.1 - 9 1245 c.922A>T c.(922-924)AGT>TGT p.S308C LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Missense_Mutation_p.S23C NM_001240 NP_001231 O60563 CCNT1_HUMAN cyclin T1 308 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding ovary(3)|lung(1)|breast(1)|skin(1) 6 GGCACTGCACTTGTGGTAGAA 0.483 NA 14 50 0 0 0.003163 0 0 MLL2 8085 broad.mit.edu 37 12 49438017 49438017 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:49438017C>A uc001rta.3 - 21 5154 c.5154G>T c.(5152-5154)GCG>GCT p.A1718A NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1718 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TCAACACCTCCGCCTGTGCAG 0.617 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) OREG0021780 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 16 0.000442599 0.000487515 0.006214 1 0 DNAJC22 79962 broad.mit.edu 37 12 49742871 49742871 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:49742871G>T uc001rua.2 + 2 617 c.216G>T c.(214-216)GTG>GTT p.V72V DNAJC22_uc001rub.2_Silent_p.V72V NM_024902 NP_079178 Q8N4W6 DJC22_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 22 72 protein folding integral to membrane heat shock protein binding|unfolded protein binding ovary(1) 1 CCAGAGGGGTGACACCCCCTC 0.577 NA 24 47 4.87955e-14 7.35147e-14 0.005443 1 0 KCNH3 23416 broad.mit.edu 37 12 49951519 49951519 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:49951519C>T uc001ruh.1 + 15 3295 c.3035C>T c.(3034-3036)CCC>CTC p.P1012L KCNH3_uc010smj.1_Missense_Mutation_p.P952L NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H 1012 Pro-rich.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity 0 TGCTCTGAGCCCAGCACCCCT 0.672 NA 6 23 0 0 0.001168 0 0 TFCP2 7024 broad.mit.edu 37 12 51492610 51492610 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:51492610G>T uc001rxw.2 - 13 1827 c.1368C>A c.(1366-1368)AGC>AGA p.S456R TFCP2_uc001rxv.1_Missense_Mutation_p.S456R|TFCP2_uc009zlx.1_Missense_Mutation_p.S405R|TFCP2_uc001rxx.2_Missense_Mutation_p.S378R|TFCP2_uc009zly.1_Missense_Mutation_p.S358R NM_005653 NP_005644 Q12800 TFCP2_HUMAN transcription factor CP2 456 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TGTAAATCTGGCTGATCTGGC 0.393 NA 7 32 8.12818e-05 9.21236e-05 0.001984 1 0 KRT5 3852 broad.mit.edu 37 12 52912779 52912779 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:52912779C>G uc001san.2 - 2 884 c.721G>C c.(721-723)GAC>CAC p.D241H KRT5_uc009zmh.2_Missense_Mutation_p.D241H NM_000424 NP_000415 P13647 K2C5_HUMAN keratin 5 241 Rod.|Coil 1B. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton 0 BRCA - Breast invasive adenocarcinoma(357;0.189) AGCTCTGAGTCCAGGCGGCCC 0.577 NA 22 124 0 0 0.00278 0 0 KRT79 338785 broad.mit.edu 37 12 53225306 53225306 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:53225306G>T uc001sbb.2 - 2 615 c.582C>A c.(580-582)CTC>CTA p.L194L KRT79_uc001sba.2_5'Flank NM_175834 NP_787028 Q5XKE5 K2C79_HUMAN keratin 6L 194 Rod.|Linker 1. keratin filament structural molecule activity ovary(2)|skin(2) 4 AGGCCTCAAAGAGGGGCTCCA 0.607 NA 7 64 1.12685e-05 1.32356e-05 0.004482 1 0 ATF7 11016 broad.mit.edu 37 12 53911046 53911046 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:53911046G>A uc001sdy.2 - 11 1381 c.1360C>T c.(1360-1362)CGC>TGC p.R454C ATF7_uc010sok.1_RNA|ATF7_uc001sdz.2_Missense_Mutation_p.R443C|ATF7_uc010sol.1_Missense_Mutation_p.R422C|uc001sdx.2_RNA NM_001130059 NP_001123531 P17544 ATF7_HUMAN activating transcription factor 7 isoform 1 454 Essential for binding adenovirus 2 E1A. interspecies interaction between organisms cytoplasm|nuclear periphery|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1) 2 GCTGCAGAGCGAACACTGAGG 0.572 NA 10 49 0 0 0.008291 0 0 HOXC11 3227 broad.mit.edu 37 12 54369071 54369071 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:54369071G>T uc001sem.2 + 2 905 c.789G>T c.(787-789)CTG>CTT p.L263L NM_014212 NP_055027 O43248 HXC11_HUMAN homeobox C11 263 Homeobox. endoderm development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 AGAAGCGGCTGCAGCTGTCCC 0.502 NA T NUP98 AML 6 58 1.26484e-09 1.72553e-09 0.00308 1 0 NCKAP1L 3071 broad.mit.edu 37 12 54894400 54894400 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:54894400G>T uc001sgc.3 + 3 376 c.297G>T c.(295-297)ATG>ATT p.M99I NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.M49I NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 99 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 TGGATGTCATGGAATTTCGGG 0.398 NA 16 81 8.00594e-06 9.50106e-06 0.007413 1 0 PDE1B 5153 broad.mit.edu 37 12 54968998 54968998 + Missense_Mutation SNP G G T rs143206355 TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:54968998G>T uc001sgd.1 + 11 1347 c.1181G>T c.(1180-1182)CGT>CTT p.R394L PDE1B_uc010soz.1_Missense_Mutation_p.R257L|PDE1B_uc010spa.1_Missense_Mutation_p.R353L|PDE1B_uc001sgf.2_Missense_Mutation_p.R257L|PDE1B_uc001sge.2_Missense_Mutation_p.R374L|PDE1B_uc009znq.2_Missense_Mutation_p.R190L NM_000924 NP_000915 Q01064 PDE1B_HUMAN phosphodiesterase 1B isoform 1 394 Catalytic (By similarity). activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding upper_aerodigestive_tract(1)|ovary(1) 2 GAATTCTTCCGTCAGGTAGCG 0.572 NA 17 54 7.33628e-21 1.2285e-20 0.002299 1 0 METTL7B 196410 broad.mit.edu 37 12 56075848 56075848 + Missense_Mutation SNP G G C rs141569755 TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:56075848G>C uc010spr.1 + 1 519 c.310G>C c.(310-312)GAG>CAG p.E104Q NM_152637 NP_689850 Q6UX53 MET7B_HUMAN methyltransferase like 7B precursor 104 methyltransferase activity 0 TCCCCACTTTGAGAAGTTCCT 0.572 NA 13 17 0 0 0.00245 0 0 ANKRD52 283373 broad.mit.edu 37 12 56642588 56642588 + Silent SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:56642588A>T uc001skm.3 - 16 1749 c.1659T>A c.(1657-1659)GCT>GCA p.A553A NM_173595 NP_775866 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 553 ANK 16. protein binding ovary(2) 2 CATAGTGCACAGCTGTGTAGC 0.632 NA 9 18 0 0 0.00245 0 0 STAT2 6773 broad.mit.edu 37 12 56737841 56737841 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:56737841C>A uc001slc.2 - 23 2259 c.2181G>T c.(2179-2181)CTG>CTT p.L727L STAT2_uc001slb.2_Silent_p.L269L|STAT2_uc001sld.2_Silent_p.L723L NM_005419 NP_005410 P52630 STAT2_HUMAN signal transducer and activator of transcription 727 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(1)|lung(1)|kidney(1) 3 gctctggcaccagccctagtt 0.184 NA 7 4 0.00198382 0.00213454 0.001984 1 0 TIMELESS 8914 broad.mit.edu 37 12 56815550 56815550 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:56815550C>A uc001slf.2 - 22 2854 c.2686G>T c.(2686-2688)GAG>TAG p.E896* NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog 896 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin ovary(5)|breast(2)|pancreas(1) 8 CGCTGCAGCTCCAACTCCTGA 0.498 NA 21 109 2.65835e-16 4.20976e-16 0.007291 1 0 MYO1A 4640 broad.mit.edu 37 12 57435270 57435270 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:57435270C>A uc001smw.3 - 13 1353 c.1110G>T c.(1108-1110)GGG>GGT p.G370G MYO1A_uc010sqz.1_Silent_p.G208G|MYO1A_uc009zpd.2_Silent_p.G370G NM_005379 NP_005370 Q9UBC5 MYO1A_HUMAN myosin IA 370 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|urinary_tract(1) 7 TCTTCTTTTCCCCGATGCCCA 0.537 NA 9 57 1.58986e-06 1.94739e-06 0.008291 1 0 KIF5A 3798 broad.mit.edu 37 12 57971847 57971847 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:57971847C>A uc001sor.1 + 22 2625 c.2417C>A c.(2416-2418)ACG>AAG p.T806K KIF5A_uc010srr.1_Missense_Mutation_p.T717K NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 806 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 CAAGACGTCACGACTCGAGTC 0.532 NA 21 52 4.26978e-12 6.21857e-12 0.00333 1 0 GEFT 115557 broad.mit.edu 37 12 58009028 58009028 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:58009028G>T uc001spb.2 + 11 1429 c.969G>T c.(967-969)GTG>GTT p.V323V GEFT_uc009zpy.2_Silent_p.V362V|GEFT_uc001soz.1_Intron|GEFT_uc001spa.2_Silent_p.V217V|uc001spc.2_RNA|GEFT_uc001spd.2_Silent_p.V28V NM_182947 NP_891992 Q86VW2 ARHGP_HUMAN RhoA/RAC/CDC42 exchange factor isoform 1 323 DH. regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity 0 Melanoma(17;0.122) AGCAAGCTGTGGAGGTCATGT 0.562 NA 11 38 1.58986e-06 1.94739e-06 0.008291 1 0 USP15 9958 broad.mit.edu 37 12 62715334 62715334 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:62715334G>C uc001src.1 + 5 574 c.565G>C c.(565-567)GAA>CAA p.E189Q USP15_uc001srb.1_Missense_Mutation_p.E189Q|USP15_uc001sra.2_Missense_Mutation_p.E189Q NM_006313 NP_006304 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 189 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) TAACACATTTGAACCACTGAA 0.328 Melanoma(181;615 2041 39364 49691 50001) NA 8 25 0 0 0.000978 0 0 HELB 92797 broad.mit.edu 37 12 66703861 66703861 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:66703861G>A uc001sti.2 + 4 1181 c.1153G>A c.(1153-1155)GTG>ATG p.V385M HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA NM_033647 NP_387467 Q8NG08 HELB_HUMAN helicase (DNA) B 385 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity central_nervous_system(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) TGTCGAAAAGGTGCTTGCCTC 0.418 NA 28 114 0 0 0.007291 0 0 GRIP1 23426 broad.mit.edu 37 12 66786519 66786519 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:66786519G>A uc001stk.2 - 17 2292 c.2051C>T c.(2050-2052)GCC>GTC p.A684V GRIP1_uc010sta.1_Missense_Mutation_p.A628V|GRIP1_uc001stj.2_Missense_Mutation_p.A466V|GRIP1_uc001stl.1_Missense_Mutation_p.A576V|GRIP1_uc001stm.2_Missense_Mutation_p.A684V NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 736 PDZ 6. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) CAAATGGATGGCTTCACTCAG 0.433 NA 13 73 0 0 0.001855 0 0 PTPRB 5787 broad.mit.edu 37 12 71003085 71003085 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:71003085G>T uc001swb.3 - 2 119 c.89C>A c.(88-90)ACC>AAC p.T30N PTPRB_uc010sto.1_Missense_Mutation_p.T30N|PTPRB_uc010stp.1_Missense_Mutation_p.T30N|PTPRB_uc001swc.3_Missense_Mutation_p.T248N|PTPRB_uc001swa.3_Missense_Mutation_p.T248N|PTPRB_uc001swd.3_Missense_Mutation_p.T247N|PTPRB_uc009zrr.1_Missense_Mutation_p.T127N|PTPRB_uc001swe.2_Missense_Mutation_p.T248N NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 30 Fibronectin type-III 1.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CTCCGCCAGGGTGAAGTTACA 0.522 NA 12 34 0.00244969 0.00263201 0.00245 1 0 TMEM19 55266 broad.mit.edu 37 12 72094749 72094749 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:72094749G>T uc001sws.2 + 6 1568 c.985G>T c.(985-987)GCT>TCT p.A329S TMEM19_uc009zru.1_RNA NM_018279 NP_060749 Q96HH6 TMM19_HUMAN transmembrane protein 19 329 Helical; (Potential). integral to membrane 0 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CCCAACTGCTGCTTGGGGTTT 0.428 NA 59 126 2.81305e-35 5.10123e-35 0.00361 1 0 NAP1L1 4673 broad.mit.edu 37 12 76444424 76444424 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:76444424C>A uc001sxw.2 - 12 1358 c.946G>T c.(946-948)GCT>TCT p.A316S NAP1L1_uc001sxv.2_Missense_Mutation_p.A274S|NAP1L1_uc001sxz.2_Missense_Mutation_p.A247S|NAP1L1_uc001sxx.2_Missense_Mutation_p.A316S|NAP1L1_uc001sxy.2_Missense_Mutation_p.A253S|NAP1L1_uc010sty.1_Missense_Mutation_p.A273S|NAP1L1_uc010stz.1_Missense_Mutation_p.A133S|NAP1L1_uc010sua.1_Missense_Mutation_p.A316S|NAP1L1_uc001syb.2_Missense_Mutation_p.A316S|NAP1L1_uc001sya.2_Missense_Mutation_p.A274S|NAP1L1_uc001syc.2_Missense_Mutation_p.A327S NM_139207 NP_631946 P55209 NP1L1_HUMAN nucleosome assembly protein 1-like 1 316 DNA replication|nucleosome assembly|positive regulation of cell proliferation chromatin assembly complex|melanosome protein binding ovary(1)|skin(1) 2 Colorectal(145;0.09) ATAGCTTCAGCATCATCATCC 0.323 NA 13 12 1.5842e-08 2.09024e-08 0.001855 1 0 NAV3 89795 broad.mit.edu 37 12 78400474 78400474 + Nonsense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:78400474G>T uc001syp.2 + 8 1329 c.1156G>T c.(1156-1158)GAG>TAG p.E386* NAV3_uc001syo.2_Nonsense_Mutation_p.E386* NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 386 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 ATCCATGCTTGAGAAATTCAA 0.532 NA HNSCC(70;0.22) 6 41 3.59834e-05 4.13823e-05 0.001168 1 0 NAV3 89795 broad.mit.edu 37 12 78401054 78401054 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:78401054G>T uc001syp.2 + 8 1909 c.1736G>T c.(1735-1737)TGT>TTT p.C579F NAV3_uc001syo.2_Missense_Mutation_p.C579F NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 579 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 GCTTCTAGTTGTCCTGCCCCT 0.507 NA HNSCC(70;0.22) 11 34 0.000978159 0.00106403 0.000978 1 0 PPP1R12A 4659 broad.mit.edu 37 12 80214888 80214888 + Missense_Mutation SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:80214888T>C uc001syz.2 - 7 1193 c.926A>G c.(925-927)GAC>GGC p.D309G PPP1R12A_uc010suc.1_Missense_Mutation_p.D222G|PPP1R12A_uc001sza.2_Missense_Mutation_p.D309G|PPP1R12A_uc010sud.1_Missense_Mutation_p.D309G|PPP1R12A_uc001szb.2_Missense_Mutation_p.D309G|PPP1R12A_uc001szc.2_Missense_Mutation_p.D309G NM_002480 NP_002471 O14974 MYPT1_HUMAN protein phosphatase 1, regulatory (inhibitor) 309 contractile fiber protein binding|signal transducer activity ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 CTGATTATTGTCCATATTTGC 0.318 NA 20 75 0 0 0.004656 0 0 MYF5 4617 broad.mit.edu 37 12 81111177 81111177 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:81111177C>A uc001szg.2 + 1 470 c.335C>A c.(334-336)ACC>AAC p.T112N NM_005593 NP_005584 P13349 MYF5_HUMAN myogenic factor 5 112 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(1) 1 TGTACCACGACCAACCCCAAC 0.592 NA 16 30 2.39187e-15 3.71838e-15 0.008871 1 0 ACSS3 79611 broad.mit.edu 37 12 81472085 81472085 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:81472085C>T uc001szl.1 + 1 277 c.186C>T c.(184-186)TAC>TAT p.Y62Y ACSS3_uc001szm.1_Silent_p.Y62Y NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 62 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 GCAGCGAGTACAAGACCCACT 0.682 NA 9 21 0 0 0.008291 0 0 FGD6 55785 broad.mit.edu 37 12 95535258 95535258 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:95535258C>A uc001tdp.3 - 6 2967 c.2743G>T c.(2743-2745)GAC>TAC p.D915Y FGD6_uc009zsx.2_Missense_Mutation_p.D48Y NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 915 DH. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|breast(1) 3 AGAATCCGGTCCTCAATCACT 0.448 NA 8 38 2.17888e-05 2.52532e-05 0.006214 1 0 NR1H4 9971 broad.mit.edu 37 12 100926248 100926248 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:100926248G>C uc001tht.1 + 3 516 c.488G>C c.(487-489)AGA>ACA p.R163T NR1H4_uc001thp.1_Missense_Mutation_p.R153T|NR1H4_uc001thq.1_Missense_Mutation_p.R153T|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Missense_Mutation_p.R153T|NR1H4_uc010svk.1_Intron|NR1H4_uc001ths.1_Missense_Mutation_p.R163T NM_005123 NP_005114 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 163 Nuclear receptor. bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 TTCTTCAGGAGAAGCATTACC 0.423 NA 6 37 0 0 0.00308 0 0 NR1H4 9971 broad.mit.edu 37 12 100926300 100926300 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:100926300G>A uc001tht.1 + 3 568 c.540G>A c.(538-540)GTG>GTA p.V180V NR1H4_uc001thp.1_Silent_p.V170V|NR1H4_uc001thq.1_Silent_p.V170V|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Silent_p.V170V|NR1H4_uc010svk.1_Intron|NR1H4_uc001ths.1_Silent_p.V180V NM_005123 NP_005114 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 180 NR C4-type.|Nuclear receptor. bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 GCAACTGTGTGATGGATATGT 0.413 NA 9 69 0 0 0.000978 0 0 OAS2 4939 broad.mit.edu 37 12 113448195 113448195 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:113448195G>T uc001tuj.2 + 11 2206 c.2066G>T c.(2065-2067)GGA>GTA p.G689V OAS2_uc001tui.1_3'UTR NM_016817 NP_058197 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2 isoform 1 689 interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding ovary(1) 1 CAGACACCAGGAAGTTGTGGA 0.383 Pancreas(199;709 2232 18410 33584 35052) NA 69 152 1.50986e-39 2.76498e-39 0.00361 1 0 TCTN2 79867 broad.mit.edu 37 12 124172603 124172603 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:124172603C>T uc001ufp.2 + 7 898 c.770C>T c.(769-771)CCC>CTC p.P257L TCTN2_uc009zya.2_Missense_Mutation_p.P256L NM_024809 NP_079085 Q96GX1 TECT2_HUMAN tectonic family member 2 isoform 1 257 Extracellular (Potential). cilium assembly|smoothened signaling pathway integral to membrane ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) TTCAGTTCCCCCAAACAGGAC 0.313 NA 13 59 0 0 0.004007 0 0 DNAH10 196385 broad.mit.edu 37 12 124403315 124403315 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:124403315C>A uc001uft.3 + 64 10996 c.10971C>A c.(10969-10971)ATC>ATA p.I3657I NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3657 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GGGGGGCCATCCTGTTCTTCG 0.567 NA 10 19 0.000673444 0.000735791 0.008291 1 0 FZD10 11211 broad.mit.edu 37 12 130648479 130648479 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:130648479C>A uc001uii.2 + 1 1448 c.992C>A c.(991-993)ACG>AAG p.T331K uc001uig.1_5'Flank|uc001uih.1_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN frizzled 10 precursor 331 Helical; Name=3; (Potential). brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(3)|breast(1)|central_nervous_system(1) 5 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) GTGGTCCTCACGCTCACCTGG 0.647 NA 8 31 0.000274275 0.000304364 0.004482 1 0 GPR133 283383 broad.mit.edu 37 12 131593298 131593298 + Silent SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:131593298A>G uc001uit.3 + 18 2476 c.1917A>G c.(1915-1917)CTA>CTG p.L639L GPR133_uc010tbm.1_Silent_p.L671L|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Silent_p.L158L|GPR133_uc009zyp.2_RNA NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 639 Helical; Name=3; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CCGTGCTCCTACACTACTTCT 0.587 NA 65 152 0 0 0.00361 0 0 SFRS8 6433 broad.mit.edu 37 12 132262653 132262653 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:132262653C>T uc001uja.1 + 14 2326 c.2186C>T c.(2185-2187)CCT>CTT p.P729L SFRS8_uc010tbn.1_Missense_Mutation_p.P729L|SFRS8_uc001ujb.1_Missense_Mutation_p.P522L NM_004592 NP_004583 Q12872 SFSWA_HUMAN splicing factor, arginine/serine-rich 8 729 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05) GGAGGCAGGCCTCTGCCTACT 0.433 NA 5 29 0 0 0.001168 0 0 POLE 5426 broad.mit.edu 37 12 133212492 133212492 + Missense_Mutation SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:133212492T>C uc001uks.1 - 42 5841 c.5797A>G c.(5797-5799)ATT>GTT p.I1933V POLE_uc001ukq.1_Missense_Mutation_p.I143V|POLE_uc001ukr.1_Missense_Mutation_p.I737V|POLE_uc010tbq.1_RNA NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 1933 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CCACAGTGAATACGAGATGAA 0.517 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 15 29 0 0 0.007413 0 0 POLE 5426 broad.mit.edu 37 12 133225973 133225973 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:133225973C>A uc001uks.1 - 31 3968 c.3924G>T c.(3922-3924)CGG>CGT p.R1308R POLE_uc001ukr.1_Silent_p.R112R|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Silent_p.R1281R NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 1308 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CAGGACCATCCCGGATGGCCC 0.647 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 11 26 3.86212e-05 4.42789e-05 0.008291 1 0 ANKLE2 23141 broad.mit.edu 37 12 133306433 133306433 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:133306433C>G uc001ukx.2 - 11 2382 c.2315G>C c.(2314-2316)AGA>ACA p.R772T ANKLE2_uc009zyw.1_Missense_Mutation_p.R127T NM_015114 NP_055929 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 772 cytoplasm|integral to membrane|nuclear envelope 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) TAACAAGTCTCTTTCTACTGC 0.443 NA 8 27 0 0 0.004482 0 0 SACS 26278 broad.mit.edu 37 13 23913627 23913627 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:23913627C>A uc001uon.2 - 10 4977 c.4388G>T c.(4387-4389)AGA>ATA p.R1463I SACS_uc001uoo.2_Missense_Mutation_p.R1316I|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 1463 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) ATTTTTAATTCTTACAGTAAG 0.368 NA 17 51 2.4624e-09 3.32569e-09 0.008871 1 0 SACS 26278 broad.mit.edu 37 13 23914776 23914776 + Nonsense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:23914776G>T uc001uon.2 - 10 3828 c.3239C>A c.(3238-3240)TCA>TAA p.S1080* SACS_uc001uoo.2_Nonsense_Mutation_p.S933*|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 1080 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AATATCTGGTGAGGTAAAAAC 0.378 NA 29 93 2.65835e-16 4.20976e-16 0.007291 1 0 RNF17 56163 broad.mit.edu 37 13 25406056 25406056 + Nonsense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:25406056G>T uc001upr.2 + 18 2463 c.2422G>T c.(2422-2424)GAA>TAA p.E808* RNF17_uc010tdd.1_Nonsense_Mutation_p.E667*|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Nonsense_Mutation_p.E808*|RNF17_uc001ups.2_Nonsense_Mutation_p.E747*|RNF17_uc010aac.2_Nonsense_Mutation_p.E6* NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 808 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) GTGGTCCAAAGAAGCTAAAGA 0.289 NA 13 27 7.93312e-07 9.78967e-07 0.00245 1 0 RNF17 56163 broad.mit.edu 37 13 25419098 25419098 + Splice_Site SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:25419098G>T uc001upr.2 + 22 3024 c.2983_splice c.e22-1 p.V995_splice RNF17_uc010tdd.1_Splice_Site_p.V854_splice|RNF17_uc010aab.2_Splice_Site|RNF17_uc010tde.1_Splice_Site_p.V995_splice|RNF17_uc001ups.2_Splice_Site_p.V934_splice|RNF17_uc010aac.2_Splice_Site_p.V193_splice|RNF17_uc010aad.2_Splice_Site_p.V47_splice NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TATTTTCTTAGGTCTTGCTGT 0.318 NA 9 32 0.00136819 0.0014818 0.001368 1 0 CDK8 1024 broad.mit.edu 37 13 26957008 26957008 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:26957008G>A uc001uqr.1 + 5 540 c.514G>A c.(514-516)GCT>ACT p.A172T CDK8_uc001uqs.1_Missense_Mutation_p.A172T|CDK8_uc001uqt.1_Intron NM_001260 NP_001251 P49336 CDK8_HUMAN cyclin-dependent kinase 8 172 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|large_intestine(1)|ovary(1)|skin(1) 5 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) AGTAAAAATTGGTATGTTATA 0.328 NA 15 36 0 0 0.007413 0 0 MTUS2 23281 broad.mit.edu 37 13 29608058 29608058 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:29608058C>A uc001usl.3 + 2 2330 c.2272C>A c.(2272-2274)CCT>ACT p.P758T NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 748 Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 GTTTTGTTCTCCTCCCTATGC 0.443 NA 4 12 0.00909568 0.00953828 0.009096 1 0 BRCA2 675 broad.mit.edu 37 13 32972857 32972857 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:32972857G>C uc001uub.1 + 27 10434 c.10207G>C c.(10207-10209)GAA>CAA p.E3403Q NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 3403 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) CAGTACGGAAGAATGTGAGAA 0.388 Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332) NA D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination FanconAnemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 12 33 0 0 0.001368 0 0 LHFP 10186 broad.mit.edu 37 13 40175066 40175066 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:40175066G>A uc001uxf.2 - 2 799 c.288C>T c.(286-288)CTC>CTT p.L96L NM_005780 NP_005771 Q9Y693 LHFP_HUMAN lipoma HMGIC fusion partner precursor 96 Helical; (Potential). integral to membrane DNA binding HMGA2/LHFP(2) soft_tissue(2)|lung(1)|breast(1) 4 Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114) OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105) CCACCAGGAGGAGGAGGCCAC 0.592 NA T HMGA2 lipoma 26 75 0 0 0.008361 0 0 FOXO1 2308 broad.mit.edu 37 13 41134033 41134033 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:41134033G>T uc001uxl.3 - 2 1980 c.1595C>A c.(1594-1596)TCT>TAT p.S532Y FOXO1_uc010acc.1_Missense_Mutation_p.S347Y NM_002015 NP_002006 Q12778 FOXO1_HUMAN forkhead box O1 532 anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding PAX3/FOXO1(749)|PAX7/FOXO1(197) soft_tissue(946)|lung(1)|central_nervous_system(1) 948 Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815) GTTAACTGCAGATGTCTGCTG 0.557 NA 35 89 2.05212e-20 3.41713e-20 0.005524 1 0 C13orf18 80183 broad.mit.edu 37 13 46946337 46946337 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:46946337G>A uc010acl.2 - 3 879 c.274C>T c.(274-276)CCT>TCT p.P92S C13orf18_uc001vbf.3_Missense_Mutation_p.P25S|C13orf18_uc001vbg.3_5'UTR|C13orf18_uc010tfz.1_Intron|C13orf18_uc010acm.2_5'UTR|C13orf18_uc010acn.2_Intron|C13orf18_uc001vbe.3_Missense_Mutation_p.P92S|C13orf18_uc001vbh.3_Missense_Mutation_p.P92S|C13orf18_uc001vbi.3_Intron|C13orf18_uc010aco.1_Missense_Mutation_p.P92S|C13orf18_uc010tga.1_Missense_Mutation_p.P25S NM_025113 NP_079389 Q9H714 CM018_HUMAN hypothetical protein LOC80183 92 Ser-rich. 0 Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;2.19e-05) AGGCACGAAGGTGAAGGGCCT 0.582 NA 15 50 0 0 0.007413 0 0 FNDC3A 22862 broad.mit.edu 37 13 49712912 49712912 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:49712912G>T uc001vcm.2 + 7 1095 c.790G>T c.(790-792)GCA>TCA p.A264S FNDC3A_uc001vcl.1_Missense_Mutation_p.A264S|FNDC3A_uc001vcn.2_Missense_Mutation_p.A264S|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.A208S|FNDC3A_uc001vcq.2_Missense_Mutation_p.A208S NM_001079673 NP_001073141 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 264 Golgi membrane|integral to membrane lung(2) 2 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) AGCATTTGAAGCACTTCTTTC 0.239 NA 11 22 0.00244969 0.00263201 0.00245 1 0 PCDH17 27253 broad.mit.edu 37 13 58207404 58207404 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:58207404G>C uc001vhq.1 + 1 1616 c.724G>C c.(724-726)GTC>CTC p.V242L PCDH17_uc010aec.1_Missense_Mutation_p.V242L NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 242 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CAACAGCCCGGTCTTCGAGGC 0.607 Melanoma(72;952 1291 1619 12849 33676) NA 18 41 0 0 0.008871 0 0 PCDH17 27253 broad.mit.edu 37 13 58209020 58209020 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:58209020G>T uc001vhq.1 + 1 3232 c.2340G>T c.(2338-2340)ATG>ATT p.M780I PCDH17_uc010aec.1_Missense_Mutation_p.M780I NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 780 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GGAACGCCATGAACGTCATGA 0.602 Melanoma(72;952 1291 1619 12849 33676) NA 11 26 2.68362e-12 3.93545e-12 0.001368 1 0 DIAPH3 81624 broad.mit.edu 37 13 60240873 60240873 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:60240873G>A uc001vht.2 - 28 3646 c.3427C>T c.(3427-3429)CAT>TAT p.H1143Y DIAPH3_uc001vhs.2_RNA NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 1143 actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) GTAGACGTATGAGTGTCTAGA 0.423 NA 28 59 0 0 0.002445 0 0 PCDH20 64881 broad.mit.edu 37 13 61985470 61985470 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:61985470C>T uc001vid.3 - 2 3126 c.2762G>A c.(2761-2763)AGG>AAG p.R921K PCDH20_uc010thj.1_Missense_Mutation_p.R921K NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 894 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) TTCATCTTCCCTGGGATGCTT 0.403 NA 5 35 0 0 0.001984 0 0 KLHL1 57626 broad.mit.edu 37 13 70535443 70535443 + Missense_Mutation SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:70535443T>C uc001vip.2 - 3 1608 c.814A>G c.(814-816)ACA>GCA p.T272A KLHL1_uc010thm.1_Missense_Mutation_p.T211A NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 272 BTB. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GCCATACCTGTATATGCAAAT 0.353 NA 23 41 0 0 0.005443 0 0 MYCBP2 23077 broad.mit.edu 37 13 77817201 77817201 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:77817201T>A uc001vkf.2 - 18 2599 c.2508A>T c.(2506-2508)GAA>GAT p.E836D MYCBP2_uc010aev.2_Missense_Mutation_p.E240D NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 836 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TACCTCTTCCTTCCTCTAATC 0.413 NA 16 56 0 0 0.010504 0 0 SLAIN1 122060 broad.mit.edu 37 13 78335215 78335215 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:78335215C>G uc010thy.1 + 6 1218 c.1175C>G c.(1174-1176)CCT>CGT p.P392R SLAIN1_uc001vkk.1_Missense_Mutation_p.P315R|SLAIN1_uc001vkl.1_Missense_Mutation_p.P271R|SLAIN1_uc010thz.1_Missense_Mutation_p.P270R|SLAIN1_uc010aex.1_Missense_Mutation_p.P157R|SLAIN1_uc010aey.1_Missense_Mutation_p.P157R|SLAIN1_uc001vkm.2_Missense_Mutation_p.P271R NM_144595 NP_653196 Q8ND83 SLAI1_HUMAN SLAIN motif family, member 1 B 534 ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0853) AGTAACCTGCCTCGAAGCAAA 0.468 NA 5 35 0 0 0.000602 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454630 84454630 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:84454630C>G uc001vlk.2 - 1 1899 c.1013G>C c.(1012-1014)AGT>ACT p.S338T NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 338 Extracellular (Potential).|LRRNT 2. integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GCAGGGTAAACTGTTAGCTAA 0.537 NA 15 62 0 0 0.007413 0 0 GPC5 2262 broad.mit.edu 37 13 92345607 92345607 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:92345607C>A uc010tif.1 + 3 858 c.492C>A c.(490-492)AAC>AAA p.N164K NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 164 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) AATTTGTAAACAGATTTTTTG 0.463 NA 23 109 7.07758e-08 9.1199e-08 0.004656 1 0 DZIP1 22873 broad.mit.edu 37 13 96293773 96293773 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:96293773G>T uc001vmk.2 - 5 1225 c.373C>A c.(373-375)CAG>AAG p.Q125K DZIP1_uc001vml.2_Missense_Mutation_p.Q125K|DZIP1_uc001vmn.2_Missense_Mutation_p.Q114K NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN DAZ interacting protein 1 isoform 2 125 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) ATGGTGAACTGCGCCAGACGG 0.607 NA 15 66 1.99824e-07 2.51812e-07 0.00499 1 0 HS6ST3 266722 broad.mit.edu 37 13 97485369 97485369 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:97485369A>T uc001vmw.2 + 2 1357 c.1333A>T c.(1333-1335)AGG>TGG p.R445W NM_153456 NP_703157 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 445 Lumenal (Potential). integral to membrane sulfotransferase activity ovary(1)|skin(1) 2 all_neural(89;0.0878)|Medulloblastoma(90;0.163) GCGAGAGCACAGGGACCACCA 0.617 NA 13 26 0 0 0.001368 0 0 FARP1 10160 broad.mit.edu 37 13 99092923 99092923 + Splice_Site SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:99092923G>T uc001vnj.2 + 24 2966 c.2630_splice c.e24-1 p.K877_splice FARP1_uc001vnh.2_Splice_Site_p.K908_splice NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF, and pleckstrin domain protein 1 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(2) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CCATCCTGTAGAGTCCCCTGA 0.632 NA 5 37 8.12818e-05 9.21236e-05 0.001984 1 0 ITGBL1 9358 broad.mit.edu 37 13 102235682 102235682 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:102235682C>A uc001vpb.2 + 6 1063 c.844C>A c.(844-846)CGA>AGA p.R282R ITGBL1_uc010agb.2_Silent_p.R233R|ITGBL1_uc001vpc.3_Silent_p.R141R NM_004791 NP_004782 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat 282 VI.|Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity ovary(1)|skin(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGTCTATGACCGATATTCTGA 0.363 NA 35 125 1.04594e-18 1.70913e-18 0.00623 1 0 ITGBL1 9358 broad.mit.edu 37 13 102366809 102366809 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:102366809G>T uc001vpb.2 + 10 1520 c.1301G>T c.(1300-1302)TGC>TTC p.C434F ITGBL1_uc010agb.2_Missense_Mutation_p.C385F|ITGBL1_uc001vpc.3_Missense_Mutation_p.C293F NM_004791 NP_004782 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat 434 IX.|Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity ovary(1)|skin(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGTGGGAAGTGCATTTGTTCT 0.408 NA 35 110 3.21399e-22 5.4682e-22 0.004878 1 0 COL4A1 1282 broad.mit.edu 37 13 110814614 110814614 + Nonsense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:110814614G>T uc001vqw.3 - 48 4547 c.4425C>A c.(4423-4425)TAC>TAA p.Y1475* COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 1475 Collagen IV NC1. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) TGCCTTGCACGTAGAGCAAAG 0.502 NA 69 208 2.65773e-34 4.79617e-34 0.00361 1 0 MCF2L 23263 broad.mit.edu 37 13 113741727 113741727 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:113741727G>T uc001vsu.2 + 22 2745 c.2723G>T c.(2722-2724)GGG>GTG p.G908V MCF2L_uc001vsq.2_Missense_Mutation_p.G908V|MCF2L_uc010tjr.1_Missense_Mutation_p.G851V|MCF2L_uc001vsr.2_Missense_Mutation_p.G855V|MCF2L_uc001vss.3_Missense_Mutation_p.G849V|MCF2L_uc010tjs.1_Missense_Mutation_p.G849V|MCF2L_uc001vst.1_Missense_Mutation_p.G813V NM_001112732 NP_001106203 O15068 MCF2L_HUMAN MCF.2 cell line derived transforming 881 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(1)|kidney(1) 2 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) AATGGGGAGGGGTATGAGAAA 0.592 NA 8 8 0.00307968 0.00328514 0.00308 1 0 OR4M1 441670 broad.mit.edu 37 14 20249337 20249337 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:20249337C>A uc010tku.1 + 1 856 c.856C>A c.(856-858)CCC>ACC p.P286T NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 286 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTTACTTAATCCCATTATTTA 0.368 NA 7 83 2.0095e-06 2.44928e-06 0.001984 1 0 OR4N2 390429 broad.mit.edu 37 14 20295891 20295891 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:20295891G>A uc010tkv.1 + 1 284 c.284G>A c.(283-285)AGA>AAA p.R95K NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 95 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATCTCCTACAGAGGCTGCATC 0.527 NA 26 270 0 0 0.009535 0 0 OR4K15 81127 broad.mit.edu 37 14 20444345 20444345 + Missense_Mutation SNP T T G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:20444345T>G uc010tkx.1 + 1 668 c.668T>G c.(667-669)ATA>AGA p.I223R NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, 223 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) AGCTTACTAATAGTTGCAGAT 0.423 NA 35 101 0 0 0.00623 0 0 OR4N5 390437 broad.mit.edu 37 14 20612059 20612059 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:20612059C>T uc010tla.1 + 1 165 c.165C>T c.(163-165)CTC>CTT p.L55L NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, 55 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) ACCCTGGGCTCACAGCCCCCC 0.463 NA 54 180 0 0 0.00361 0 0 TEP1 7011 broad.mit.edu 37 14 20849739 20849739 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:20849739C>A uc001vxe.2 - 31 4571 c.4531G>T c.(4531-4533)GAG>TAG p.E1511* TEP1_uc010ahk.2_Nonsense_Mutation_p.E854*|TEP1_uc010tlf.1_Intron|TEP1_uc010tlg.1_Nonsense_Mutation_p.E1403*|TEP1_uc010tlh.1_Intron NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 1511 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GCCGTGTCCTCTAGCCCTGGC 0.647 NA 36 102 2.95478e-19 4.87112e-19 0.00874 1 0 TEP1 7011 broad.mit.edu 37 14 20872851 20872851 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:20872851C>T uc001vxe.2 - 5 991 c.951G>A c.(949-951)GCG>GCA p.A317A TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Intron NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 317 TROVE. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GGGGGCGACACGCCGGCAAGA 0.552 NA 25 47 0 0 0.00632 0 0 RNASE12 493901 broad.mit.edu 37 14 21058504 21058504 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:21058504C>A uc001vxt.2 - 1 479 c.379G>T c.(379-381)GAG>TAG p.E127* RNASE11_uc010ahv.2_5'Flank|RNASE11_uc010ahx.2_5'Flank|RNASE11_uc010ahw.2_5'Flank|RNASE11_uc001vxs.2_5'Flank|uc001vxu.1_5'Flank NM_001024822 NP_001019993 Q5GAN4 RNS12_HUMAN ribonuclease, RNase A family, 12 (non-active) 127 extracellular region nucleic acid binding|pancreatic ribonuclease activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(95;0.00238) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.013) ACAAACCCCTCTGTGGGGGAA 0.453 NA 21 49 4.54149e-19 7.47861e-19 0.002299 1 0 RPGRIP1 57096 broad.mit.edu 37 14 21779997 21779997 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:21779997G>A uc001wag.2 + 8 945 c.945G>A c.(943-945)CTG>CTA p.L315L NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator 315 Potential. response to stimulus|visual perception cilium ovary(4)|breast(2)|pancreas(1) 7 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) AGGGAATCCTGAGTGCAGCCC 0.517 NA 4 11 0 0 0.001168 0 0 SUPT16H 11198 broad.mit.edu 37 14 21852072 21852072 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:21852072C>T uc001wao.2 - 1 354 c.15G>A c.(13-15)CTG>CTA p.L5L SUPT16H_uc001wap.2_Silent_p.L5L|SUPT16H_uc001waq.1_Silent_p.L5L NM_007192 NP_009123 Q9Y5B9 SP16H_HUMAN chromatin-specific transcription elongation 5 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) CGTCTTTGTCCAGAGTCACAG 0.592 NA 20 44 0 0 0.00333 0 0 TOX4 9878 broad.mit.edu 37 14 21960676 21960676 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:21960676G>A uc001waz.2 + 7 1004 c.901G>A c.(901-903)GAA>AAA p.E301K TOX4_uc001way.2_Missense_Mutation_p.E171K|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Missense_Mutation_p.E278K|TOX4_uc010tlv.1_Missense_Mutation_p.E171K NM_014828 NP_055643 O94842 TOX4_HUMAN epidermal Langerhans cell protein LCP1 301 chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding ovary(1) 1 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) GGCCACTGTGGAAACAGTGGA 0.413 NA 39 114 0 0 0.00361 0 0 ACIN1 22985 broad.mit.edu 37 14 23538785 23538785 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:23538785C>A uc001wit.3 - 9 2667 c.2339G>T c.(2338-2340)AGA>ATA p.R780I ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.R22I|ACIN1_uc001wiq.3_Missense_Mutation_p.R22I|ACIN1_uc001wir.3_Missense_Mutation_p.R53I|ACIN1_uc001wis.3_Missense_Mutation_p.R462I|ACIN1_uc010akg.2_Missense_Mutation_p.R780I NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 780 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) ATTTTCAGGTCTGTTTTCACT 0.537 NA OREG0022596 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 31 3.27435e-08 4.26728e-08 0.00245 1 0 ACIN1 22985 broad.mit.edu 37 14 23547448 23547448 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:23547448C>T uc001wit.3 - 8 2537 c.2209G>A c.(2209-2211)GAG>AAG p.E737K ACIN1_uc001wis.3_Missense_Mutation_p.E419K|ACIN1_uc010akg.2_Missense_Mutation_p.E737K NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 737 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) GGCTCTGCCTCTTCAGCTTCA 0.473 NA 39 84 0 0 0.007835 0 0 ACIN1 22985 broad.mit.edu 37 14 23562726 23562726 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:23562726G>A uc001wit.3 - 2 668 c.340C>T c.(340-342)CAC>TAC p.H114Y ACIN1_uc010akg.2_Missense_Mutation_p.H114Y|ACIN1_uc010tnj.1_Missense_Mutation_p.H114Y|C14orf119_uc001wiu.2_5'Flank NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 114 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) GGTGTTGAGTGTTTCTGTAAA 0.433 NA 18 48 0 0 0.010504 0 0 MYH7 4625 broad.mit.edu 37 14 23894032 23894032 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:23894032C>G uc001wjx.2 - 22 2731 c.2625G>C c.(2623-2625)GAG>GAC p.E875D NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 875 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) ACACCATCTTCTCCTCCAGCT 0.587 NA 14 28 0 0 0.004007 0 0 LRRC16B 90668 broad.mit.edu 37 14 24535820 24535820 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:24535820C>G uc001wlj.2 + 36 3794 c.3637C>G c.(3637-3639)CCA>GCA p.P1213A LRRC16B_uc001wlk.2_Missense_Mutation_p.P266A NM_138360 NP_612369 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 1213 ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(265;0.019) AAGCACCAAACCAAGCTTCAG 0.547 NA 10 48 0 0 0.00245 0 0 RNF31 55072 broad.mit.edu 37 14 24619987 24619987 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:24619987G>T uc001wmn.1 + 8 1627 c.1378G>T c.(1378-1380)GGG>TGG p.G460W RNF31_uc001wml.1_Missense_Mutation_p.G309W|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.G275W|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank NM_017999 NP_060469 Q96EP0 RNF31_HUMAN ring finger protein 31 460 Polyubiquitin-binding. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00861) CCCCAAGCCTGGGCCCCCACG 0.612 NA 19 58 3.99206e-14 6.05116e-14 0.007413 1 0 ADCY4 196883 broad.mit.edu 37 14 24798651 24798651 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:24798651G>C uc001wov.2 - 9 1312 c.1306C>G c.(1306-1308)CTT>GTT p.L436V ADCY4_uc001wow.2_Missense_Mutation_p.L436V|ADCY4_uc010toh.1_Missense_Mutation_p.L122V|ADCY4_uc001wox.2_Missense_Mutation_p.L436V|ADCY4_uc001woy.2_Missense_Mutation_p.L436V NM_139247 NP_640340 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 436 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding ovary(1)|lung(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(265;0.0192) AGCTCCCGAAGGTAGGGGTCC 0.632 NA 14 33 0 0 0.007413 0 0 CTSG 1511 broad.mit.edu 37 14 25042962 25042962 + Missense_Mutation SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:25042962A>G uc001wpq.2 - 5 686 c.649T>C c.(649-651)TAT>CAT p.Y217H NM_001911 NP_001902 P08311 CATG_HUMAN cathepsin G preproprotein 217 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity ovary(2) 2 GBM - Glioblastoma multiforme(265;0.0269) GACTTTCCATAGGAGACGATG 0.552 NA 30 83 0 0 0.002445 0 0 PRKD1 5587 broad.mit.edu 37 14 30105689 30105689 + Missense_Mutation SNP G G A rs146285949 TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:30105689G>A uc001wqh.2 - 7 1178 c.997C>T c.(997-999)CCT>TCT p.P333S NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 333 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) TCTGCCCCAGGGCTAAGCAAA 0.438 NA 19 41 0 0 0.010504 0 0 G2E3 55632 broad.mit.edu 37 14 31066645 31066645 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:31066645G>T uc001wqk.2 + 7 702 c.548G>T c.(547-549)GGA>GTA p.G183V G2E3_uc010tpe.1_Missense_Mutation_p.G137V|G2E3_uc010tpf.1_Missense_Mutation_p.G137V NM_017769 NP_060239 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin ligase 183 PHD-type 2; degenerate. apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 ATAAATGCGGGAGTGTTTTTC 0.313 NA 34 109 2.6416e-12 3.88532e-12 0.00623 1 0 HEATR5A 25938 broad.mit.edu 37 14 31813206 31813206 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:31813206T>A uc001wrf.3 - 15 2322 c.2245A>T c.(2245-2247)AAC>TAC p.N749Y HEATR5A_uc010ami.2_Missense_Mutation_p.N647Y|HEATR5A_uc001wrg.1_Missense_Mutation_p.N631Y|HEATR5A_uc010tpk.1_Missense_Mutation_p.N1042Y NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 1036 binding ovary(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) CAGTCTGGGTTATCTTGCATT 0.428 NA 9 29 0 0 0.004482 0 0 PSMA6 5687 broad.mit.edu 37 14 35780014 35780014 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:35780014G>C uc001wtd.2 + 4 431 c.322G>C c.(322-324)GAG>CAG p.E108Q KIAA0391_uc001wta.2_RNA|PSMA6_uc010tpt.1_Missense_Mutation_p.E29Q|PSMA6_uc010tpu.1_Missense_Mutation_p.E29Q NM_002791 NP_002782 P60900 PSA6_HUMAN proteasome alpha 6 subunit 108 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity 0 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) GTATGGCTATGAGATTCCTGT 0.423 NA 26 34 0 0 0.00632 0 0 CTAGE5 4253 broad.mit.edu 37 14 39762580 39762580 + Nonsense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:39762580G>T uc001wvg.3 + 6 826 c.490G>T c.(490-492)GAA>TAA p.E164* CTAGE5_uc010tqe.1_Nonsense_Mutation_p.E126*|CTAGE5_uc001wuz.3_Nonsense_Mutation_p.E152*|CTAGE5_uc001wuy.3_Nonsense_Mutation_p.E84*|CTAGE5_uc001wvb.3_Nonsense_Mutation_p.E135*|CTAGE5_uc001wvc.3_Nonsense_Mutation_p.E109*|CTAGE5_uc001wva.3_Nonsense_Mutation_p.E135*|CTAGE5_uc001wve.1_Nonsense_Mutation_p.E140*|CTAGE5_uc001wvh.3_Nonsense_Mutation_p.E164*|CTAGE5_uc001wvf.3_Nonsense_Mutation_p.E89*|CTAGE5_uc001wvi.3_Nonsense_Mutation_p.E169*|CTAGE5_uc010amz.2_5'UTR|CTAGE5_uc001wvj.3_Nonsense_Mutation_p.E135* NM_005930 NP_005921 O15320 CTGE5_HUMAN CTAGE family, member 5 isoform 1 164 Potential. enzyme activator activity|protein binding 0 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0475) TGAACAAGATGAATTGGTAAG 0.294 NA 10 20 6.40141e-05 7.28859e-05 0.000978 1 0 FBXO33 254170 broad.mit.edu 37 14 39900943 39900943 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:39900943C>T uc001wvk.2 - 1 762 c.424G>A c.(424-426)GAA>AAA p.E142K NM_203301 NP_976046 Q7Z6M2 FBX33_HUMAN F-box protein 33 142 0 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169) GBM - Glioblastoma multiforme(112;0.0425) GCGGCGAATTCAACACGCAGC 0.687 NA 19 29 0 0 0.00278 0 0 SDCCAG1 9147 broad.mit.edu 37 14 50301084 50301084 + Missense_Mutation SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:50301084T>C uc001wxc.2 - 7 726 c.658A>G c.(658-660)AAA>GAA p.K220E SDCCAG1_uc010anj.1_Missense_Mutation_p.K220E|SDCCAG1_uc010tqi.1_Missense_Mutation_p.K220E|SDCCAG1_uc001wxe.2_Missense_Mutation_p.K178E|SDCCAG1_uc001wxd.1_5'Flank|SDCCAG1_uc010anq.1_Silent_p.L15L NM_004713 NP_004704 O60524 NEMF_HUMAN serologically defined colon cancer antigen 1 220 cytoplasm|nucleus 0 all_epithelial(31;0.000822)|Breast(41;0.0117) all_lung(585;1.02e-05) OV - Ovarian serous cystadenocarcinoma(311;5.99e-34) GACATACCTTTAGTTTCAAGT 0.338 NA 15 33 0 0 0.003163 0 0 NID2 22795 broad.mit.edu 37 14 52495533 52495533 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:52495533C>A uc001wzo.2 - 11 2671 c.2437G>T c.(2437-2439)GGC>TGC p.G813C NID2_uc010tqs.1_Missense_Mutation_p.G813C|NID2_uc010tqt.1_Missense_Mutation_p.G813C|NID2_uc001wzp.2_Missense_Mutation_p.G813C NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 813 EGF-like 3; calcium-binding (Potential). basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) GAGTTGGGGCCACAGCGATGA 0.448 NA 11 40 9.70103e-10 1.33322e-09 0.008291 1 0 PTGDR 5729 broad.mit.edu 37 14 52734663 52734663 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:52734663C>A uc001wzq.2 + 1 233 c.131C>A c.(130-132)TCG>TAG p.S44* NM_000953 NP_000944 Q13258 PD2R_HUMAN prostaglandin D2 receptor 44 Cytoplasmic (Potential). integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) CTGGCGCGCTCGGGGCTGGGG 0.687 NA 6 12 2.7689e-08 3.62443e-08 0.001984 1 0 TBPL2 387332 broad.mit.edu 37 14 55903622 55903622 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:55903622C>T uc001xby.2 - 2 265 c.265G>A c.(265-267)GAA>AAA p.E89K NM_199047 NP_950248 Q6SJ96 TBPL2_HUMAN TATA box binding protein like 2 89 multicellular organismal development|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding 0 CCAGATGTTTCTTTGACTTCA 0.428 NA 16 56 0 0 0.006122 0 0 DACT1 51339 broad.mit.edu 37 14 59112634 59112634 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:59112634G>A uc001xdw.2 + 4 1457 c.1293G>A c.(1291-1293)AAG>AAA p.K431K DACT1_uc010trv.1_Silent_p.K150K|DACT1_uc001xdx.2_Silent_p.K394K|DACT1_uc010trw.1_Silent_p.K150K NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN dapper 1 isoform 1 431 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus large_intestine(2)|lung(2)|ovary(1) 5 CCGAAAGCAAGAGGGTGCCCC 0.592 NA 11 34 0 0 0.001368 0 0 DHRS7 51635 broad.mit.edu 37 14 60611705 60611705 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:60611705G>C uc001xes.2 - 7 1183 c.999C>G c.(997-999)ATC>ATG p.I333M C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Missense_Mutation_p.I283M NM_016029 NP_057113 Q9Y394 DHRS7_HUMAN dehydrogenase/reductase (SDR family) member 7 333 binding|oxidoreductase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.121) TTGTCTTAAAGATTTTAAAAT 0.358 NA 5 62 0 0 0.000602 0 0 KCNH5 27133 broad.mit.edu 37 14 63174517 63174517 + Silent SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:63174517A>T uc001xfx.2 - 11 2727 c.2676T>A c.(2674-2676)GCT>GCA p.A892A KCNH5_uc001xfy.2_3'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 892 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) GCTTGGCATCAGCCTGGATGG 0.517 NA 24 69 0 0 0.00632 0 0 SYNE2 23224 broad.mit.edu 37 14 64520073 64520073 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:64520073G>C uc001xgm.2 + 48 9672 c.9442G>C c.(9442-9444)GAA>CAA p.E3148Q SYNE2_uc001xgl.2_Missense_Mutation_p.E3148Q|SYNE2_uc010apw.1_5'Flank NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3148 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CTCACCAAAAGAATTGGATGA 0.299 NA 5 18 0 0 0.000602 0 0 SPTB 6710 broad.mit.edu 37 14 65252654 65252654 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:65252654G>A uc001xht.2 - 16 3631 c.3577C>T c.(3577-3579)CAC>TAC p.H1193Y SPTB_uc001xhr.2_Missense_Mutation_p.H1193Y|SPTB_uc001xhs.2_Missense_Mutation_p.H1193Y|SPTB_uc001xhu.2_Missense_Mutation_p.H1193Y NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 1193 Spectrin 9. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GGCTCCAAGTGAGCCAGAGTG 0.547 NA 31 65 0 0 0.002096 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68234553 68234553 + Silent SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:68234553T>A uc001xka.2 - 31 5797 c.5658A>T c.(5656-5658)CTA>CTT p.L1886L ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.L1886L NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1886 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TGGAGCTGTCTAGAGCTGAGA 0.483 NA 24 65 0 0 0.004656 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713356 70713356 + Missense_Mutation SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:70713356T>C uc010ttg.1 - 1 1163 c.512A>G c.(511-513)CAT>CGT p.H171R NR_003951 SubName: Full=ADAM21-like protein; 0 ACCTAACTCATGGGCCACAGT 0.433 NA 24 223 0 0 0.009535 0 0 ADAM21 8747 broad.mit.edu 37 14 70925238 70925238 + Missense_Mutation SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:70925238A>G uc001xmd.2 + 1 1022 c.1022A>G c.(1021-1023)CAT>CGT p.H341R NM_003813 NP_003804 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 preproprotein 341 Peptidase M12B.|Extracellular (Potential). Zinc; catalytic (Potential). proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding pancreas(1)|skin(1) 2 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) ACTGTGGCCCATGAGTTAGGT 0.428 NA 18 43 0 0 0.007413 0 0 PAPLN 89932 broad.mit.edu 37 14 73718736 73718736 + Missense_Mutation SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:73718736A>G uc010ttx.1 + 9 1017 c.854A>G c.(853-855)CAG>CGG p.Q285R PAPLN_uc001xnw.3_Missense_Mutation_p.Q258R|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.Q285R NM_173462 NP_775733 O95428 PPN_HUMAN papilin 285 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) CTCATCAGCCAGGAGCCCAAC 0.682 NA 11 28 0 0 0.007413 0 0 ACOT4 122970 broad.mit.edu 37 14 74061798 74061798 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:74061798G>C uc001xoo.2 + 3 960 c.706G>C c.(706-708)GAT>CAT p.D236H NM_152331 NP_689544 Q8N9L9 ACOT4_HUMAN acyl-CoA thioesterase 4 236 acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process peroxisome carboxylesterase activity|palmitoyl-CoA hydrolase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00331) TCTAGGAGCTGATATTTGTCT 0.423 NA 22 49 0 0 0.001882 0 0 ABCD4 5826 broad.mit.edu 37 14 74763132 74763132 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:74763132T>A uc001xpr.2 - 5 598 c.446A>T c.(445-447)GAC>GTC p.D149V ABCD4_uc001xps.2_5'UTR|ABCD4_uc001xpt.2_5'UTR|ABCD4_uc010tur.1_Missense_Mutation_p.D62V|ABCD4_uc001xpu.2_5'UTR|ABCD4_uc001xpv.2_RNA NM_005050 NP_005041 O14678 ABCD4_HUMAN ATP-binding cassette, sub-family D, member 4 149 ABC transmembrane type-1. ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.00153) TCGCTCCACGTCCTGGCTGAT 0.557 NA 20 51 0 0 0.001882 0 0 LTBP2 4053 broad.mit.edu 37 14 74995241 74995241 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:74995241C>A uc001xqa.2 - 12 2700 c.2313G>T c.(2311-2313)CAG>CAT p.Q771H NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 771 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CCCGGAGGGGCTGCCTCTCTG 0.652 NA 9 58 4.68919e-08 6.0898e-08 0.008291 1 0 YLPM1 56252 broad.mit.edu 37 14 75283738 75283738 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:75283738C>T uc001xqj.3 + 14 5914 c.5790C>T c.(5788-5790)ATC>ATT p.I1930I YLPM1_uc001xql.3_RNA|YLPM1_uc001xqm.1_Silent_p.I413I NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 1735 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck ovary(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CCTTCATCATCCTGGATGCCA 0.403 NA 7 10 0 0 0.00308 0 0 FOS 2353 broad.mit.edu 37 14 75748078 75748078 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:75748078A>T uc001xrn.2 + 4 1299 c.1094A>T c.(1093-1095)AAT>ATT p.N365I FOS_uc010tva.1_Missense_Mutation_p.N329I|FOS_uc010asi.2_Missense_Mutation_p.N251I|FOS_uc001xro.2_Missense_Mutation_p.N217I NM_005252 NP_005243 P01100 FOS_HUMAN v-fos FBJ murine osteosarcoma viral oncogene 365 cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(2)|ovary(1) 3 all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112) BRCA - Breast invasive adenocarcinoma(234;0.0117) AGCAGCAGCAATGAGCCTTCC 0.657 NA 14 39 0 0 0.00245 0 0 TMEM63C 57156 broad.mit.edu 37 14 77710724 77710724 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:77710724G>T uc001xtf.2 + 16 1586 c.1374G>T c.(1372-1374)GTG>GTT p.V458V TMEM63C_uc010asq.1_Silent_p.V458V NM_020431 NP_065164 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 458 Helical; (Potential). integral to membrane 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) TCCCCTCTGTGATGCTCTGGG 0.587 NA 61 123 1.15098e-32 2.06454e-32 0.00361 1 0 TSHR 7253 broad.mit.edu 37 14 81609993 81609993 + Silent SNP C C A rs139892516 TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:81609993C>A uc001xvd.1 + 10 1747 c.1591C>A c.(1591-1593)CGG>AGG p.R531R NM_000369 NP_000360 P16473 TSHR_HUMAN thyroid stimulating hormone receptor isoform 1 531 Cytoplasmic (Potential). cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1) 299 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) GCGCCTGGACCGGAAGATCCG 0.562 NA Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 7 20 1.26484e-09 1.72553e-09 0.00308 1 0 STON2 85439 broad.mit.edu 37 14 81743600 81743600 + Silent SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:81743600G>C uc010tvu.1 - 4 2256 c.2055C>G c.(2053-2055)ACC>ACG p.T685T STON2_uc001xvk.1_Silent_p.T685T|STON2_uc010tvt.1_Silent_p.T482T NM_033104 NP_149095 Q8WXE9 STON2_HUMAN stonin 2 685 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding skin(3)|pancreas(2) 5 BRCA - Breast invasive adenocarcinoma(234;0.0348) TGAAAGGCAAGGTCTTCTCAG 0.537 NA 32 98 0 0 0.004289 0 0 STON2 85439 broad.mit.edu 37 14 81864700 81864700 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:81864700G>T uc010tvu.1 - 1 228 c.27C>A c.(25-27)GCC>GCA p.A9A STON2_uc001xvk.1_Silent_p.A9A|STON2_uc010atc.1_Silent_p.A9A NM_033104 NP_149095 Q8WXE9 STON2_HUMAN stonin 2 9 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding skin(3)|pancreas(2) 5 BRCA - Breast invasive adenocarcinoma(234;0.0348) ACTGGTGGGTGGCAATCACAT 0.522 NA 11 26 5.16669e-11 7.3031e-11 0.000978 1 0 CALM1 801 broad.mit.edu 37 14 90870246 90870246 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:90870246G>T uc001xyl.1 + 4 421 c.219G>T c.(217-219)ATG>ATT p.M73I CALM1_uc010atq.1_Missense_Mutation_p.M74I|CALM1_uc010atr.1_Intron|CALM1_uc001xym.1_Missense_Mutation_p.M37I NM_006888 NP_008819 P62158 CALM_HUMAN calmodulin 1 isoform 1 73 EF-hand 2. activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding central_nervous_system(1) 1 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.208) Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069) TGACTATGATGGCTAGAAAAA 0.393 NA 6 25 0.00198382 0.00213454 0.001984 1 0 RPS6KA5 9252 broad.mit.edu 37 14 91526737 91526737 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:91526737G>T uc001xys.2 - 1 257 c.42C>A c.(40-42)ACC>ACA p.T14T RPS6KA5_uc010twi.1_5'Flank|RPS6KA5_uc001xyt.2_Silent_p.T14T|RPS6KA5_uc010att.1_RNA NM_004755 NP_004746 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, polypeptide 5 14 axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) CGTCCGCGCTGGTCCCCGCGG 0.622 NA 3 9 6.4e-05 7.28859e-05 0.004672 1 0 KIAA1409 57578 broad.mit.edu 37 14 93962774 93962774 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:93962774C>T uc001ybv.1 + 3 282 c.199C>T c.(199-201)CTG>TTG p.L67L KIAA1409_uc001ybs.1_Silent_p.L67L|KIAA1409_uc001ybu.1_Intron NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 244 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) TTGTCAATTACTGGAATGCCT 0.274 NA 6 59 0 0 0.006214 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102548771 102548771 + Nonsense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:102548771G>T uc001yku.3 - 10 1956 c.1766C>A c.(1765-1767)TCA>TAA p.S589* HSP90AA1_uc001ykv.3_Nonsense_Mutation_p.S711* NM_005348 NP_005339 P07900 HS90A_HUMAN heat shock 90kDa protein 1, alpha isoform 2 589 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1) 7 Rifabutin(DB00615) CAATCGGTTTGACACAACCAC 0.388 NA 8 7 0.00307968 0.00328514 0.00308 1 0 CYFIP1 23191 broad.mit.edu 37 15 22933576 22933576 + Silent SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:22933576A>G uc001yus.2 + 7 689 c.585A>G c.(583-585)TTA>TTG p.L195L CYFIP1_uc001yut.2_Silent_p.L195L|CYFIP1_uc010aya.1_Silent_p.L223L NM_014608 NP_055423 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 isoform 195 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding ovary(4)|pancreas(3)|liver(1)|skin(1) 9 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) CTCAGTTTTTACGTAAAATGG 0.403 NA 8 17 0 0 0.000978 0 0 C15orf2 23742 broad.mit.edu 37 15 24921406 24921406 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:24921406G>T uc001ywo.2 + 1 866 c.392G>T c.(391-393)CGT>CTT p.R131L NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 131 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CCTTCACCACGTGAGCCGGCG 0.632 NA 4 56 0.00024832 0.000277424 0.009096 1 0 C15orf2 23742 broad.mit.edu 37 15 24923500 24923500 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:24923500C>T uc001ywo.2 + 1 2960 c.2486C>T c.(2485-2487)CCT>CTT p.P829L NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 829 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) AATACCACCCCTCCTTCCAAA 0.498 NA 14 73 0 0 0.004007 0 0 GABRB3 2562 broad.mit.edu 37 15 26825485 26825485 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:26825485C>T uc001zaz.2 - 6 805 c.663G>A c.(661-663)AGG>AGA p.R221R GABRB3_uc010uae.1_Silent_p.R136R|GABRB3_uc001zba.2_Silent_p.R221R|GABRB3_uc001zbb.2_Silent_p.R277R NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 221 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AGACAACATTCCTCGAGACCA 0.552 NA 14 61 0 0 0.004007 0 0 GABRA5 2558 broad.mit.edu 37 15 27185199 27185199 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:27185199A>T uc001zbd.1 + 10 1191 c.852A>T c.(850-852)GAA>GAT p.E284D GABRB3_uc001zbb.2_5'Flank NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 284 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGAACCGGGAATCAGTCCCAG 0.512 NA 6 16 0 0 0.001984 0 0 GABRG3 2567 broad.mit.edu 37 15 27222262 27222262 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:27222262G>T uc001zbg.1 + 2 333 c.167G>T c.(166-168)AGA>ATA p.R56I GABRG3_uc001zbf.2_Missense_Mutation_p.R56I NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 56 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) AAGTTGCTAAGAGAATATGAT 0.348 NSCLC(114;800 1656 7410 37729 45293) NA 12 76 1.5739e-10 2.19754e-10 0.004007 1 0 GABRG3 2567 broad.mit.edu 37 15 27772703 27772703 + Silent SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:27772703G>C uc001zbg.1 + 8 1156 c.990G>C c.(988-990)GCG>GCC p.A330A NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 330 Helical; (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) TCTTCGCCGCGCTGATGGAGT 0.552 NSCLC(114;800 1656 7410 37729 45293) NA 4 7 0 0 0.000602 0 0 HERC2 8924 broad.mit.edu 37 15 28358796 28358796 + Missense_Mutation SNP C C A rs143209042 TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:28358796C>A uc001zbj.2 - 91 14048 c.13942G>T c.(13942-13944)GCT>TCT p.A4648S HERC2_uc001zbi.2_Missense_Mutation_p.A337S NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 4648 HECT. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TCCCGAACAGCAGCCACCTGC 0.542 NA 12 21 2.32078e-09 3.14299e-09 0.003163 1 0 GOLGA8F 100132565 broad.mit.edu 37 15 28632777 28632777 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:28632777G>T uc010uag.1 + 15 1433 c.1309G>T c.(1309-1311)GGG>TGG p.G437W GOLGA8G_uc001zbp.3_Missense_Mutation_p.G231W|GOLGA8G_uc001zbo.2_Intron|GOLGA8G_uc001zbn.2_Missense_Mutation_p.G235W NM_001164328 NP_001157800 golgi autoantigen, golgin subfamily a, 8F 0 GGACAGTGAGGGGGAGGAGGC 0.612 NA 8 44 2.39556e-15 3.71838e-15 0.00278 1 0 TRPM1 4308 broad.mit.edu 37 15 31294741 31294741 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:31294741C>T uc001zfm.2 - 27 4224 c.4096G>A c.(4096-4098)GAA>AAA p.E1366K TRPM1_uc010azy.2_Missense_Mutation_p.E1273K|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 1366 Cytoplasmic (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GTCTGTCTTTCATCATCTTCC 0.378 NA 20 51 0 0 0.010504 0 0 GREM1 26585 broad.mit.edu 37 15 33023329 33023329 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:33023329C>A uc001zhe.1 + 2 597 c.438C>A c.(436-438)CCC>CCA p.P146P GREM1_uc001zhd.1_Silent_p.P76P|GREM1_uc010uby.1_Silent_p.P105P NM_013372 NP_037504 O60565 GREM1_HUMAN gremlin-1 precursor 146 CTCK. negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition extracellular space cytokine activity 0 all_lung(180;1.49e-09) all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107) TCTGCAAGCCCAAGAAATTCA 0.502 NA 22 46 4.26978e-12 6.21857e-12 0.00333 1 0 RYR3 6263 broad.mit.edu 37 15 33951980 33951980 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:33951980G>T uc001zhi.2 + 33 4438 c.4368G>T c.(4366-4368)TTG>TTT p.L1456F RYR3_uc010bar.2_Missense_Mutation_p.L1456F NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1456 4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GTACTTCTTTGTTTCAGTTTG 0.433 NA 7 27 1.12685e-05 1.32356e-05 0.004482 1 0 RYR3 6263 broad.mit.edu 37 15 34110877 34110877 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:34110877G>A uc001zhi.2 + 76 10768 c.10698G>A c.(10696-10698)ACG>ACA p.T3566T RYR3_uc010bar.2_Silent_p.T3561T NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3566 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ACGCTCTCACGGAGAGGAGGT 0.517 NA 9 14 0 0 0.000978 0 0 C15orf55 256646 broad.mit.edu 37 15 34646724 34646724 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:34646724C>A uc001zif.2 + 5 1224 c.1069C>A c.(1069-1071)CCT>ACT p.P357T C15orf55_uc010ucc.1_Missense_Mutation_p.P385T|C15orf55_uc010ucd.1_Missense_Mutation_p.P375T NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 357 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) ACCTCCTGCTCCTGAGGCACC 0.587 NA T BRD3|BRD4 lethal midline carcinoma 21 33 7.45023e-12 1.08294e-11 0.010504 1 0 THBS1 7057 broad.mit.edu 37 15 39882765 39882766 + Missense_Mutation DNP GA GA TG TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:39882765_39882766GA>TG uc001zkh.2 + 14 2373_2374 c.2194_2195GA>TG c.(2194-2196)GAT>TGT p.D732C THBS1_uc010bbi.2_Missense_Mutation_p.D204C NM_003246 NP_003237 P07996 TSP1_HUMAN thrombospondin 1 precursor 732 TSP type-3 2. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding ovary(3)|central_nervous_system(3) 6 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) CTATGACAAGGATGGAATTGGT 0.416 NA 19 40 0 0 0.004672 0 0 BAHD1 22893 broad.mit.edu 37 15 40750889 40750889 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:40750889C>T uc001zlu.2 + 2 297 c.226C>T c.(226-228)CGC>TGC p.R76C BAHD1_uc001zlt.2_Missense_Mutation_p.R76C|BAHD1_uc010bbp.1_Missense_Mutation_p.R76C|BAHD1_uc001zlv.2_Missense_Mutation_p.R76C NM_014952 NP_055767 Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 76 heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding 0 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) GCTGCTGACTCGCCTGGAGAA 0.637 NA 7 37 0 0 0.004482 0 0 INO80 54617 broad.mit.edu 37 15 41387985 41387985 + Silent SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:41387985T>C uc001zni.2 - 3 498 c.285A>G c.(283-285)ACA>ACG p.T95T INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 95 Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 TCAGAGAATATGTGTTTAACA 0.428 NA 9 44 0 0 0.000978 0 0 MGA 23269 broad.mit.edu 37 15 42000361 42000361 + Nonsense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:42000361G>T uc001zog.1 + 7 2471 c.2380G>T c.(2380-2382)GGA>TGA p.G794* MGA_uc010ucy.1_Nonsense_Mutation_p.G794*|MGA_uc010ucz.1_Nonsense_Mutation_p.G794* NM_001080541 NP_001074010 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 2 794 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TAAGATCAAGGGATGGAGGGG 0.343 NA 3 5 0.004672 0.00493414 0.004672 1 0 PLA2G4F 255189 broad.mit.edu 37 15 42436757 42436757 + Silent SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:42436757C>G uc001zoz.2 - 17 1929 c.1866G>C c.(1864-1866)GTG>GTC p.V622V PLA2G4F_uc010bcq.2_5'UTR|PLA2G4F_uc001zoy.2_Silent_p.V254V|PLA2G4F_uc010bcr.2_Silent_p.V373V|PLA2G4F_uc001zpa.2_Silent_p.V373V|PLA2G4F_uc010bcs.2_Silent_p.V409V NM_213600 NP_998765 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 622 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity ovary(4) 4 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) ATATGTCCAGCACAGCCTGGG 0.622 NA 6 39 0 0 0.00308 0 0 FBN1 2200 broad.mit.edu 37 15 48718036 48718036 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:48718036G>T uc001zwx.1 - 59 7558 c.7230C>A c.(7228-7230)CAC>CAA p.H2410Q FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 2410 EGF-like 41; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GGCAAACATCGTGAATAACCT 0.343 NA 9 65 7.48243e-07 9.25655e-07 0.006214 1 0 SECISBP2L 9728 broad.mit.edu 37 15 49284862 49284862 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:49284862C>A uc001zxe.1 - 18 3019 c.2885G>T c.(2884-2886)GGC>GTC p.G962V SECISBP2L_uc001zxd.1_Missense_Mutation_p.G917V NM_014701 NP_055516 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 962 breast(1)|skin(1) 2 ATCCAAAGAGCCAGTCTCTGT 0.453 NA 9 57 1.58986e-06 1.94739e-06 0.008291 1 0 GALK2 2585 broad.mit.edu 37 15 49531417 49531417 + Splice_Site SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:49531417G>T uc001zxj.1 + 5 456 c.358_splice c.e5-1 p.E120_splice GALK2_uc001zxi.1_Splice_Site_p.E109_splice|GALK2_uc010ufb.1_Splice_Site_p.E96_splice|GALK2_uc001zxk.2_Splice_Site|GALK2_uc010ufc.1_Splice_Site_p.E96_splice NM_002044 NP_002035 Q01415 GALK2_HUMAN galactokinase 2 isoform 1 galactose metabolic process cytoplasm ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity breast(1) 1 all_lung(180;0.000325) all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05) TATATTCTTAGGAACACTTTG 0.408 NA 12 26 1.05317e-09 1.44471e-09 0.00245 1 0 DMXL2 23312 broad.mit.edu 37 15 51855592 51855592 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:51855592C>A uc002abf.2 - 6 778 c.553G>T c.(553-555)GCT>TCT p.A185S DMXL2_uc010ufy.1_Missense_Mutation_p.A185S|DMXL2_uc010bfa.2_Missense_Mutation_p.A185S NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 185 WD 2. cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) CCAGCAGTAGCAAAATATTCA 0.284 NA 6 19 8.12818e-05 9.21236e-05 0.001984 1 0 WDR72 256764 broad.mit.edu 37 15 53908067 53908067 + Missense_Mutation SNP T T G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:53908067T>G uc002acj.2 - 15 2378 c.2336A>C c.(2335-2337)CAG>CCG p.Q779P WDR72_uc010bfi.1_Missense_Mutation_p.Q779P NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 779 lung(1)|skin(1) 2 all cancers(107;0.0511) TGGCTTAGGCTGCATTTTTTT 0.383 NA 22 102 0 0 0.00278 0 0 CILP 8483 broad.mit.edu 37 15 65494368 65494368 + Splice_Site SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:65494368C>T uc002aon.2 - 8 1210 c.1029_splice c.e8-1 p.W343_splice NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 ATTATGATACCTGCAAGGGAT 0.527 NA 6 39 0 0 0.001984 0 0 IGDCC4 57722 broad.mit.edu 37 15 65676739 65676739 + Missense_Mutation SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:65676739A>G uc002aou.1 - 20 3571 c.3361T>C c.(3361-3363)TCA>CCA p.S1121P IGDCC4_uc002aot.1_Missense_Mutation_p.S709P NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 1121 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(1)|pancreas(1)|skin(1) 3 GCTGGGGGTGACTTCTTCCTC 0.512 NA 18 68 0 0 0.00333 0 0 SMAD6 4091 broad.mit.edu 37 15 67073688 67073688 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:67073688A>T uc002aqf.2 + 4 2229 c.1306A>T c.(1306-1308)ATC>TTC p.I436F SMAD6_uc010bhx.2_RNA|SMAD6_uc002aqg.2_Missense_Mutation_p.I175F NM_005585 NP_005576 O43541 SMAD6_HUMAN SMAD family member 6 isoform 1 436 MH2. BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis cytosol|transcription factor complex co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding skin(1) 1 CGGCTACTCCATCAAGGTGTT 0.721 Esophageal Squamous(179;72 2004 22333 39628 47290) NA 4 14 0 0 0.009096 0 0 NEO1 4756 broad.mit.edu 37 15 73545747 73545747 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:73545747G>A uc002avm.3 + 12 2043 c.1901G>A c.(1900-1902)AGT>AAT p.S634N NEO1_uc010ukx.1_Missense_Mutation_p.S634N|NEO1_uc010uky.1_Missense_Mutation_p.S634N|NEO1_uc010ukz.1_Missense_Mutation_p.S58N|NEO1_uc002avn.3_Missense_Mutation_p.S299N NM_002499 NP_002490 Q92859 NEO1_HUMAN neogenin homolog 1 precursor 634 Extracellular (Potential).|Fibronectin type-III 3. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus pancreas(1) 1 CTAGTTCCCAGTGCTGCTCCT 0.373 NA 8 22 0 0 0.006214 0 0 LMAN1L 79748 broad.mit.edu 37 15 75114169 75114169 + Splice_Site SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:75114169G>T uc002ayt.1 + 10 1062 c.1060_splice c.e10-1 p.A354_splice LMAN1L_uc010bke.1_Splice_Site_p.A342_splice NM_021819 NP_068591 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like precursor ER-Golgi intermediate compartment membrane|integral to membrane sugar binding 0 CCTATCCCCAGGCCCTGGATG 0.572 NA 11 60 6.40141e-05 7.28859e-05 0.000978 1 0 C15orf39 56905 broad.mit.edu 37 15 75499772 75499772 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:75499772C>T uc002azp.3 + 2 1703 c.1383C>T c.(1381-1383)CCC>CCT p.P461P C15orf39_uc002azq.3_Silent_p.P461P|C15orf39_uc002azr.3_5'Flank NM_015492 NP_056307 Q6ZRI6 CO039_HUMAN hypothetical protein LOC56905 461 0 CTGGGCCGCCCATCGTCATCC 0.652 NA 14 32 0 0 0.007413 0 0 CSPG4 1464 broad.mit.edu 37 15 75981130 75981130 + Missense_Mutation SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:75981130A>G uc002baw.2 - 3 2369 c.2276T>C c.(2275-2277)CTG>CCG p.L759P NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 759 CSPG 3.|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 CTCCAGGGCCAGGTTCTCCAC 0.637 NA 7 19 0 0 0.00308 0 0 ACSBG1 23205 broad.mit.edu 37 15 78487043 78487043 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:78487043G>T uc002bdh.2 - 3 314 c.258C>A c.(256-258)GCC>GCA p.A86A ACSBG1_uc010umw.1_Silent_p.A86A|ACSBG1_uc010umx.1_Intron|ACSBG1_uc010umy.1_5'UTR NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN lipidosin 86 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity ovary(1) 1 CCCGCCCATCGGCCCGAGTCG 0.642 NA 15 59 0.000566183 0.000622257 0.00499 1 0 CHRNA5 1138 broad.mit.edu 37 15 78882901 78882901 + Missense_Mutation SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:78882901A>G uc002bdy.2 + 5 1330 c.1168A>G c.(1168-1170)AGA>GGA p.R390G CHRNA5_uc002bdz.2_Intron NM_000745 NP_000736 P30532 ACHA5_HUMAN cholinergic receptor, nicotinic, alpha 5 390 Cytoplasmic (Potential). behavioral response to nicotine cell junction|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity ovary(1)|central_nervous_system(1)|skin(1) 3 AAAATCTTCTAGAAACACATT 0.418 NA 14 25 0 0 0.004007 0 0 IL16 3603 broad.mit.edu 37 15 81592569 81592569 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:81592569C>T uc002bgh.3 + 14 3278 c.2902C>T c.(2902-2904)CCC>TCC p.P968S IL16_uc010blq.1_Missense_Mutation_p.P922S|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.P1010S|IL16_uc002bgg.2_Missense_Mutation_p.P968S|IL16_uc002bgi.1_Missense_Mutation_p.P358S|IL16_uc002bgj.2_Missense_Mutation_p.P462S|IL16_uc002bgk.2_Missense_Mutation_p.P267S|IL16_uc002bgl.1_Missense_Mutation_p.P267S|IL16_uc010unq.1_Missense_Mutation_p.P267S NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 968 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 ACGGAGCTTCCCCCTGACCAG 0.572 NA 5 22 0 0 0.000602 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84561559 84561559 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:84561559C>A uc002bjz.3 + 13 1610 c.1386C>A c.(1384-1386)TGC>TGA p.C462* ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.C462*|ADAMTSL3_uc010bmu.1_Nonsense_Mutation_p.C462* NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 462 TSP type-1 2. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) AATGGAAGTGCATGTACGCAC 0.473 NA 8 21 1.58986e-06 1.94739e-06 0.008291 1 0 ANPEP 290 broad.mit.edu 37 15 90335755 90335755 + Missense_Mutation SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:90335755T>C uc002bop.3 - 17 2580 c.2288A>G c.(2287-2289)AAC>AGC p.N763S NM_001150 NP_001141 P15144 AMPN_HUMAN membrane alanine aminopeptidase precursor 763 Extracellular.|Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding ovary(3)|skin(1) 4 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) TGGAACTCCGTTGGAGCAGGC 0.577 NSCLC(30;827 977 2459 19669 26125) NA 5 54 0 0 0.000602 0 0 SV2B 9899 broad.mit.edu 37 15 91769718 91769719 + Missense_Mutation DNP GG GG TT TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr15:91769718_91769719GG>TT uc002bqv.2 + 1 616_617 c.225_226GG>TT c.(223-228)CGGGGC>CGTTGC p.G76C SV2B_uc002bqt.2_Missense_Mutation_p.G76C|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN synaptic vesicle protein 2B homolog 76 Cytoplasmic (Potential). neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1) 8 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) ACAGCCTTCGGGGCCAGACAGA 0.584 NA 7 17 0 0 0.004672 0 0 TPSD1 23430 broad.mit.edu 37 16 1306591 1306591 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:1306591G>T uc002clb.1 + 2 166 c.157G>T c.(157-159)GTG>TTG p.V53L TPSD1_uc010brm.1_5'UTR NM_012217 NP_036349 Q9BZJ3 TRYD_HUMAN tryptase delta 1 precursor 53 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Hepatocellular(780;0.00369) GCCCTGGCAGGTGAGCCTGAG 0.692 NA 24 56 6.12954e-19 1.00492e-18 0.004656 1 0 HAGH 3029 broad.mit.edu 37 16 1872979 1872979 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:1872979C>A uc002cna.2 - 2 543 c.136G>T c.(136-138)GAG>TAG p.E46* HAGH_uc002cmz.2_5'UTR|HAGH_uc010uvp.1_Nonsense_Mutation_p.E46*|HAGH_uc002cnb.1_5'UTR|HAGH_uc010bry.1_Nonsense_Mutation_p.E46* NM_005326 NP_005317 Q16775 GLO2_HUMAN hydroxyacylglutathione hydrolase isoform 1 46 glutathione biosynthetic process cytoplasm|mitochondrial matrix|mitochondrial matrix hydroxyacylglutathione hydrolase activity|zinc ion binding ovary(1) 1 Hepatocellular(780;0.00335) Glutathione(DB00143) ATGGTGCCCTCGTCCACGGTC 0.587 Pancreas(55;1048 1176 25227 40124 41333) NA 36 94 7.91308e-09 1.04873e-08 0.006999 1 0 RPL3L 6123 broad.mit.edu 37 16 1995919 1995919 + Missense_Mutation SNP G G T rs143428526 TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:1995919G>T uc002cnh.2 - 8 1011 c.964C>A c.(964-966)CAC>AAC p.H322N SEPX1_uc010uvs.1_5'Flank NM_005061 NP_005052 Q92901 RL3L_HUMAN ribosomal protein L3-like 322 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome 0 TCCCCGTAGTGGGGGAAGCCA 0.597 NA 19 63 1.22574e-08 1.61871e-08 0.002299 1 0 TSC2 7249 broad.mit.edu 37 16 2115637 2115637 + Splice_Site SNP G G T rs45517190 TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:2115637G>T uc002con.2 + 16 1822 c.1716_splice c.e16+1 p.Q572_splice TSC2_uc010bsd.2_Splice_Site_p.Q572_splice|TSC2_uc002coo.2_Splice_Site_p.Q572_splice|TSC2_uc010uvv.1_Splice_Site_p.Q535_splice|TSC2_uc010uvw.1_Splice_Site_p.Q523_splice|TSC2_uc002cop.2_Splice_Site_p.Q372_splice NM_000548 NP_000539 P49815 TSC2_HUMAN tuberous sclerosis 2 isoform 1 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1) 10 Hepatocellular(780;0.0202) CATCCTTCAGGTGGGTGTTCT 0.642 NA D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 18 52 1.10513e-12 1.63842e-12 0.002299 1 0 C16orf90 646174 broad.mit.edu 37 16 3544669 3544669 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:3544669G>T uc002cvi.2 - 2 255 c.255C>A c.(253-255)GGC>GGA p.G85G NM_001080524 NP_001073993 A8MZG2 CP090_HUMAN hypothetical protein LOC646174 75 0 CCATAAGCCGGCCCAGCCAGT 0.692 NA 6 13 0.00307968 0.00328514 0.00308 1 0 UBN1 29855 broad.mit.edu 37 16 4924688 4924688 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:4924688C>T uc002cyb.2 + 15 2616 c.2277C>T c.(2275-2277)GGC>GGT p.G759G UBN1_uc010uxw.1_Silent_p.G759G|UBN1_uc002cyc.2_Silent_p.G759G NM_001079514 NP_001072982 Q9NPG3 UBN1_HUMAN ubinuclein 1 759 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity skin(2) 2 AGAGTTCTGGCTACAAAGAGC 0.562 NA 16 37 0 0 0.00499 0 0 C16orf45 89927 broad.mit.edu 37 16 15677094 15677094 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:15677094C>A uc002ddo.2 + 5 687 c.501C>A c.(499-501)GCC>GCA p.A167A C16orf45_uc002ddp.2_Silent_p.A150A NM_033201 NP_149978 Q96MC5 CP045_HUMAN hypothetical protein LOC89927 isoform 1 167 ovary(1) 1 AATCTCCAGCCAGTGAGTATA 0.303 NA 22 66 3.5997e-14 5.46757e-14 0.002299 1 0 MYH11 4629 broad.mit.edu 37 16 15851831 15851831 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:15851831G>T uc002ddy.2 - 13 1535 c.1428C>A c.(1426-1428)ATC>ATA p.I476I MYH11_uc002ddv.2_Silent_p.I483I|MYH11_uc002ddw.2_Silent_p.I476I|MYH11_uc002ddx.2_Silent_p.I483I|MYH11_uc010bvg.2_Silent_p.I308I|MYH11_uc002dea.1_Silent_p.I182I NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 476 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 TGGTGTAGTTGATGCACAGCT 0.567 NA T CBFB AML 26 72 1.56442e-22 2.66776e-22 0.002445 1 0 TMC5 79838 broad.mit.edu 37 16 19485485 19485485 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:19485485A>T uc002dgc.3 + 12 2726 c.1977A>T c.(1975-1977)TTA>TTT p.L659F TMC5_uc010vaq.1_Missense_Mutation_p.L607F|TMC5_uc002dgb.3_Missense_Mutation_p.L659F|TMC5_uc010var.1_Missense_Mutation_p.L659F|TMC5_uc002dgd.1_Missense_Mutation_p.L413F|TMC5_uc002dge.3_Missense_Mutation_p.L413F|TMC5_uc002dgf.3_Missense_Mutation_p.L342F|TMC5_uc002dgg.3_Missense_Mutation_p.L300F NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 isoform a 659 Helical; (Potential). integral to membrane skin(1) 1 CGGTGCTGTTACTGCCTTTCG 0.552 NA 53 134 0 0 0.00361 0 0 GP2 2813 broad.mit.edu 37 16 20335338 20335338 + Missense_Mutation SNP C C A rs147629855 by1000genomes TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:20335338C>A uc002dgv.2 - 3 418 c.335G>T c.(334-336)CGA>CTA p.R112L GP2_uc002dgw.2_Missense_Mutation_p.R112L|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron NM_001007240 NP_001007241 P55259 GP2_HUMAN zymogen granule membrane glycoprotein 2 isoform 112 anchored to membrane|extracellular region|plasma membrane ovary(3)|skin(1) 4 TGTCTGGCATCGGTGCACCTG 0.597 NA 23 58 7.92952e-12 1.14812e-11 0.003954 1 0 PDILT 204474 broad.mit.edu 37 16 20373839 20373839 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:20373839G>T uc002dhc.1 - 10 1526 c.1303C>A c.(1303-1305)CAA>AAA p.Q435K NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 435 Thioredoxin. cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 GAGTGGTTTTGATATTTTCTG 0.478 NA 17 37 3.32936e-07 4.1603e-07 0.006122 1 0 ACSM5 54988 broad.mit.edu 37 16 20448427 20448427 + Silent SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:20448427G>C uc002dhe.2 + 11 1509 c.1362G>C c.(1360-1362)GGG>GGC p.G454G NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 454 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 ACATCACAGGGGACCGAGCTC 0.488 NA 19 70 0 0 0.001882 0 0 ACSM2A 123876 broad.mit.edu 37 16 20476923 20476923 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:20476923G>A uc010bwe.2 + 4 501 c.262G>A c.(262-264)GAA>AAA p.E88K ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.E9K|ACSM2A_uc002dhf.3_Missense_Mutation_p.E88K|ACSM2A_uc002dhg.3_Missense_Mutation_p.E88K|ACSM2A_uc010vay.1_Missense_Mutation_p.E9K NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 88 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 AGAACTGAGTGAAAACAGCCA 0.597 NA 12 51 0 0 0.001368 0 0 ACSM2A 123876 broad.mit.edu 37 16 20477017 20477017 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:20477017G>T uc010bwe.2 + 4 595 c.356G>T c.(355-357)TGG>TTG p.W119L ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.W40L|ACSM2A_uc002dhf.3_Missense_Mutation_p.W119L|ACSM2A_uc002dhg.3_Missense_Mutation_p.W119L|ACSM2A_uc010vay.1_Missense_Mutation_p.W40L NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 119 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 GTGCCTGAGTGGTGGCTGGTG 0.572 NA 10 33 1.36491e-13 2.04599e-13 0.001855 1 0 VWA3A 146177 broad.mit.edu 37 16 22128452 22128452 + Silent SNP A A C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:22128452A>C uc010vbq.1 + 11 1041 c.945A>C c.(943-945)GCA>GCC p.A315A VWA3A_uc010bxc.2_Silent_p.A302A NM_173615 NP_775886 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 315 extracellular region skin(1) 1 GBM - Glioblastoma multiforme(48;0.0439) AGAACCTTGCAGAAGCTGTTA 0.547 NA 3 3 0 0 0.004672 0 0 LCMT1 51451 broad.mit.edu 37 16 25143815 25143815 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:25143815G>A uc002dnx.1 + 3 456 c.298G>A c.(298-300)GGC>AGC p.G100S LCMT1_uc002dny.1_Missense_Mutation_p.G100S|LCMT1_uc002dnz.1_5'UTR|LCMT1_uc002doa.1_5'UTR NM_016309 NP_057393 Q9UIC8 LCMT1_HUMAN leucine carboxyl methyltransferase 1 isoform a 100 protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity 0 GBM - Glioblastoma multiforme(48;0.0336) L-Leucine(DB00149) CCTTGGGGCAGGCATGGATAC 0.428 Colon(200;565 2072 24396 47922 50898) NA 7 24 0 0 0.00308 0 0 IL21R 50615 broad.mit.edu 37 16 27455868 27455868 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:27455868G>T uc002doq.1 + 6 746 c.513G>T c.(511-513)CCG>CCT p.P171P IL21R_uc002dor.1_Silent_p.P171P|IL21R_uc002dos.1_Silent_p.P171P NM_181078 NP_851564 Q9HBE5 IL21R_HUMAN interleukin 21 receptor precursor 171 Extracellular (Potential).|Fibronectin type-III. natural killer cell activation integral to membrane interleukin-21 receptor activity ovary(2)|lung(1)|breast(1) 4 GGCAGAGTCCGAGGAGAAAGC 0.582 NA T BCL6 NHL 12 24 0.00185496 0.00200605 0.001855 1 0 GSG1L 146395 broad.mit.edu 37 16 27840137 27840137 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:27840137G>T uc002doz.2 - 5 888 c.803C>A c.(802-804)CCT>CAT p.P268H GSG1L_uc010bya.1_Missense_Mutation_p.P217H|GSG1L_uc010bxz.1_Missense_Mutation_p.P113H|GSG1L_uc002doy.2_Missense_Mutation_p.P113H NM_001109763 NP_001103233 Q6UXU4 GSG1L_HUMAN GSG1-like isoform 1 268 integral to membrane ovary(1) 1 GATGGCCTCAGGGTCTATGAA 0.607 NA 26 40 6.04164e-23 1.03145e-22 0.002096 1 0 EIF3CL 728689 broad.mit.edu 37 16 28734788 28734788 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:28734788C>G uc010byj.2 + 11 1048 c.959C>G c.(958-960)GCC>GGC p.A320G uc010vct.1_Intron|EIF3CL_uc010byi.2_Missense_Mutation_p.A319G|EIF3CL_uc002dqs.3_Missense_Mutation_p.A319G|EIF3C_uc002dqt.3_Missense_Mutation_p.A319G|EIF3CL_uc010vcy.1_Missense_Mutation_p.A309G|EIF3C_uc002dqu.3_Missense_Mutation_p.A319G|EIF3CL_uc002dqv.3_Missense_Mutation_p.A65G NM_001099661 NP_001093131 B5ME19 B5ME19_HUMAN eukaryotic translation initiation factor 3, 320 eukaryotic translation initiation factor 3 complex translation initiation factor activity 0 AAAATGTTTGCCAAGGGAACT 0.493 NA 56 187 0 0 0.00361 0 0 ITGAL 3683 broad.mit.edu 37 16 30505629 30505629 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:30505629A>T uc002dyi.3 + 12 1486 c.1310A>T c.(1309-1311)CAA>CTA p.Q437L ITGAL_uc002dyj.3_Missense_Mutation_p.Q354L|ITGAL_uc010vev.1_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor 437 FG-GAP 4.|Extracellular (Potential). blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) CTGCTGTTCCAAGAGCCACAG 0.647 NSCLC(110;1462 1641 3311 33990 49495) NA 13 30 0 0 0.001855 0 0 SETD1A 9739 broad.mit.edu 37 16 30982946 30982946 + Silent SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:30982946G>C uc002ead.1 + 13 3950 c.3264G>C c.(3262-3264)ACG>ACC p.T1088T NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 1088 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 CAGTGCCCACGCCAGCACCTG 0.622 NA 12 55 0 0 0.006122 0 0 SETD1A 9739 broad.mit.edu 37 16 30991034 30991034 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:30991034G>T uc002ead.1 + 14 4613 c.3927G>T c.(3925-3927)ACG>ACT p.T1309T NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 1309 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 TCAAGCCCACGCCCCCTGCGC 0.706 NA 10 13 3.07112e-06 3.69777e-06 0.000978 1 0 ITGAM 3684 broad.mit.edu 37 16 31309101 31309101 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:31309101G>T uc002ebq.2 + 14 1631 c.1533G>T c.(1531-1533)GGG>GGT p.G511G ITGAM_uc002ebr.2_Silent_p.G512G|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_Intron NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 511 FG-GAP 6.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 TTCTCTACGGGGAGCAGGGCC 0.652 NA 20 46 1.55795e-14 2.38095e-14 0.001882 1 0 ZNF720 124411 broad.mit.edu 37 16 31734648 31734648 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:31734648G>T uc002ecn.3 + 3 404 c.200G>T c.(199-201)AGT>ATT p.S67I ZNF720_uc010vfs.1_5'UTR|ZNF720_uc002eco.2_Intron|ZNF720_uc002ecp.1_Intron|ZNF720_uc002ecq.2_Missense_Mutation_p.S69I NM_001130913 NP_001124385 Q7Z2F6 ZN720_HUMAN zinc finger protein 720 67 KRAB. regulation of transcription, DNA-dependent intracellular nucleic acid binding 0 AATGTGAAGAGTGCAGAGACA 0.473 NA 10 11 7.03913e-09 9.3457e-09 0.001368 1 0 CYLD 1540 broad.mit.edu 37 16 50830247 50830247 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:50830247G>T uc002egp.1 + 19 3114 c.2699G>T c.(2698-2700)GGC>GTC p.G900V CYLD_uc002egq.1_Missense_Mutation_p.G897V|CYLD_uc002egr.1_Missense_Mutation_p.G897V NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD 900 cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3) 28 all_cancers(37;0.0156) GGTCAGAATGGCTTCAACATT 0.448 NA Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial 5 46 4.096e-09 5.49211e-09 0.001168 1 0 CES1 1066 broad.mit.edu 37 16 55857462 55857462 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:55857462C>A uc002eim.2 - 4 644 c.536G>T c.(535-537)AGC>ATC p.S179I CES1_uc002eil.2_Missense_Mutation_p.S180I|CES1_uc002ein.2_Missense_Mutation_p.S179I NM_001025194 NP_001020365 P23141 EST1_HUMAN carboxylesterase 1 isoform b precursor 179 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) GATTTCTTACCTGAAGAATCC 0.562 NSCLC(162;1801 2756 42904 52896) NA 13 40 9.16793e-09 1.2118e-08 0.00499 1 0 NLRC5 84166 broad.mit.edu 37 16 57110788 57110788 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:57110788G>T uc002ekk.1 + 40 5034 c.4809G>T c.(4807-4809)AGG>AGT p.R1603S NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekq.1_Missense_Mutation_p.R145S|NLRC5_uc002ekr.1_Missense_Mutation_p.R490S NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 1603 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) AGGCTCTCAGGGCTGCCACCA 0.552 NA 7 46 2.17888e-05 2.52532e-05 0.006214 1 0 CMTM2 146225 broad.mit.edu 37 16 66613615 66613615 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:66613615G>A uc002ept.2 + 1 265 c.105G>A c.(103-105)TCG>TCA p.S35S CMTM2_uc010cdu.2_Silent_p.S35S NM_144673 NP_653274 Q8TAZ6 CKLF2_HUMAN chemokine-like factor superfamily 2 35 chemotaxis extracellular space|integral to membrane cytokine activity ovary(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212) AGGAGCCATCGGACAAACCTC 0.617 NA 6 62 0 0 0.00308 0 0 HYDIN 54768 broad.mit.edu 37 16 70977764 70977764 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:70977764C>A uc002ezr.2 - 42 6745 c.6617G>T c.(6616-6618)TGT>TTT p.C2206F NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 2207 ovary(1)|skin(1) 2 Ovarian(137;0.0654) CGGGAGCACACAGCTCATCAG 0.577 NA 10 24 2.27111e-07 2.85232e-07 0.001368 1 0 AP1G1 164 broad.mit.edu 37 16 71823291 71823291 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:71823291C>A uc010cgg.2 - 2 406 c.92G>T c.(91-93)TGT>TTT p.C31F AP1G1_uc002fba.2_Missense_Mutation_p.C31F|AP1G1_uc002fbb.2_Missense_Mutation_p.C54F|AP1G1_uc010vmg.1_RNA|AP1G1_uc010vmh.1_Missense_Mutation_p.C113F NM_001128 NP_001119 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 31 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity ovary(2) 2 Ovarian(137;0.125) GATTGCAGCACATTCTTTCTG 0.502 NA 20 52 9.57634e-11 1.3434e-10 0.00333 1 0 DHX38 9785 broad.mit.edu 37 16 72141433 72141433 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:72141433C>T uc002fcb.2 + 20 3150 c.2795C>T c.(2794-2796)GCC>GTC p.A932V DHX38_uc010vmp.1_Missense_Mutation_p.A244V NM_014003 NP_054722 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 932 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 Ovarian(137;0.125) ATCCTCGGGGCCCTGGACAAC 0.597 Melanoma(97;711 1442 7855 13832 28836) NA 9 21 0 0 0.008291 0 0 ZFHX3 463 broad.mit.edu 37 16 72991600 72991600 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:72991600C>A uc002fck.2 - 2 3118 c.2445G>T c.(2443-2445)GTG>GTT p.V815V ZFHX3_uc002fcl.2_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 815 C2H2-type 5; atypical. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) GGTTCCTGGCCACGTTGGTCT 0.522 NA 30 104 4.74835e-14 7.16833e-14 0.002096 1 0 GLG1 2734 broad.mit.edu 37 16 74537629 74537629 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:74537629C>G uc002fcy.3 - 4 624 c.574G>C c.(574-576)GAT>CAT p.D192H GLG1_uc002fcx.2_Missense_Mutation_p.D192H|GLG1_uc002fcw.3_Missense_Mutation_p.D181H|GLG1_uc002fcz.3_5'UTR NM_001145667 NP_001139139 Q92896 GSLG1_HUMAN golgi apparatus protein 1 isoform 3 192 Cys-rich GLG1 2.|Extracellular (Potential). Golgi membrane|integral to membrane receptor binding ovary(1)|breast(1) 2 ACCGGTTCATCAGCACATTCT 0.388 NA 11 51 0 0 0.001368 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77401560 77401560 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:77401560C>A uc002ffc.3 - 4 975 c.556G>T c.(556-558)GCC>TCC p.A186S ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 186 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 TGTTCCTGGGCCAGAAGCTGA 0.493 NA 17 59 5.26018e-13 7.8533e-13 0.001882 1 0 CMIP 80790 broad.mit.edu 37 16 81730228 81730228 + Nonsense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:81730228G>T uc002fgp.2 + 14 1666 c.1594G>T c.(1594-1596)GGA>TGA p.G532* CMIP_uc002fgq.1_Nonsense_Mutation_p.G438*|CMIP_uc010vnq.1_Nonsense_Mutation_p.G345*|CMIP_uc002fgr.1_Nonsense_Mutation_p.G379*|CMIP_uc010vnr.1_Nonsense_Mutation_p.G98* NM_198390 NP_938204 Q8IY22 CMIP_HUMAN c-Maf-inducing protein isoform C-mip 498 cytoplasm|nucleus 0 CTACAGCCCCGGAGGGGTGGC 0.647 NA 10 30 9.31168e-06 1.10067e-05 0.001855 1 0 ADAD2 161931 broad.mit.edu 37 16 84229857 84229857 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:84229857G>T uc002fhr.2 + 8 1521 c.1407G>T c.(1405-1407)GGG>GGT p.G469G ADAD2_uc002fhq.2_Silent_p.G551G|uc002fhs.1_Intron NM_001145400 NP_001138872 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 isoform 469 A to I editase. RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding 0 TGTTTGCAGGGCCCCCGGTGG 0.692 NA 12 70 6.31663e-08 8.15349e-08 0.003163 1 0 KLHL36 79786 broad.mit.edu 37 16 84690791 84690791 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:84690791G>T uc002fig.2 + 3 519 c.378G>T c.(376-378)CTG>CTT p.L126L KLHL36_uc010chl.2_Silent_p.L125L NM_024731 NP_079007 Q8N4N3 KLH36_HUMAN kelch-like 36 126 skin(2) 2 CTCACCTGCTGCAGATCTGGA 0.602 NA 8 46 0.000274275 0.000304364 0.004482 1 0 CDH15 1013 broad.mit.edu 37 16 89245932 89245932 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr16:89245932C>A uc002fmt.2 + 2 228 c.151C>A c.(151-153)CCG>ACG p.P51T CDH15_uc010cij.1_Missense_Mutation_p.P51T NM_004933 NP_004924 P55291 CAD15_HUMAN cadherin 15 preproprotein 51 adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0261) GGTCATCCCCCCGATCAGCGT 0.687 NA 10 34 1.08611e-07 1.38156e-07 0.000978 1 0 C17orf97 400566 broad.mit.edu 37 17 263305 263305 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:263305G>T uc002frh.2 + 3 717 c.701G>T c.(700-702)GGC>GTC p.G234V C17orf97_uc010vpz.1_RNA NM_001013672 NP_001013694 Q6ZQX7 CQ097_HUMAN hypothetical protein LOC400566 234 4.|20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. ovary(1) 1 GCCCTCAAGGGCTTCCACCCC 0.697 NA 33 21 4.34086e-07 5.4197e-07 0.005524 1 0 GEMIN4 50628 broad.mit.edu 37 17 649543 649543 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:649543C>G uc002frs.1 - 2 1859 c.1740G>C c.(1738-1740)CAG>CAC p.Q580H NM_015721 NP_056536 P57678 GEMI4_HUMAN gemin 4 580 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding ovary(2)|kidney(1)|skin(1) 4 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) CAGTGAGAATCTGGGCCAGGA 0.557 NA 25 23 0 0 0.008361 0 0 TRPV3 162514 broad.mit.edu 37 17 3417887 3417887 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:3417887C>T uc002fvt.1 - 17 2600 c.2278G>A c.(2278-2280)GAT>AAT p.D760N SPATA22_uc010vrg.1_5'Flank|TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.D744N|TRPV3_uc010vri.1_Missense_Mutation_p.D715N|TRPV3_uc010vrj.1_Missense_Mutation_p.D744N|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.A744T|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.A760T|TRPV3_uc002fvu.2_Missense_Mutation_p.G760S NM_145068 NP_659505 Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, 760 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(4) 4 Menthol(DB00825) GCGACAGTACCTGTTCGTCTT 0.368 NA 25 13 0 0 0.00632 0 0 PELP1 27043 broad.mit.edu 37 17 4576947 4576947 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:4576947C>A uc002fyi.3 - 14 1831 c.1605G>T c.(1603-1605)ATG>ATT p.M535I PELP1_uc010vsf.1_Missense_Mutation_p.M388I NM_014389 NP_055204 Q8IZL8 PELP1_HUMAN proline, glutamic acid and leucine rich protein 535 transcription, DNA-dependent cytoplasm|MLL1 complex protein binding ovary(1)|central_nervous_system(1) 2 GAGGCCCACACATGAGGATGG 0.502 NA 46 28 2.53126e-37 4.61273e-37 0.00361 1 0 AIPL1 23746 broad.mit.edu 37 17 6329034 6329034 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:6329034C>A uc002gcp.2 - 6 996 c.901G>T c.(901-903)GTG>TTG p.V301L AIPL1_uc002gcq.2_Missense_Mutation_p.V241L|AIPL1_uc002gcr.2_Missense_Mutation_p.V238L|AIPL1_uc010clk.2_Missense_Mutation_p.V279L|AIPL1_uc010cll.2_Missense_Mutation_p.V277L|AIPL1_uc002gcs.2_3'UTR NM_014336 NP_055151 Q9NZN9 AIPL1_HUMAN aryl hydrocarbon receptor interacting 301 protein farnesylation|protein folding|visual perception cytoplasm|nucleus farnesylated protein binding|unfolded protein binding 0 COAD - Colon adenocarcinoma(228;0.141) TCCCTGCGCACCGCCTTCTGC 0.662 NA 22 25 2.41591e-17 3.89638e-17 0.004656 1 0 SLC13A5 284111 broad.mit.edu 37 17 6610444 6610444 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:6610444A>T uc002gdj.2 - 2 222 c.134T>A c.(133-135)ATG>AAG p.M45K SLC13A5_uc010vtf.1_Missense_Mutation_p.M45K|SLC13A5_uc010clq.2_Intron|SLC13A5_uc002gdk.2_Missense_Mutation_p.M45K|SLC13A5_uc002gdl.1_5'Flank NM_177550 NP_808218 Q86YT5 S13A5_HUMAN solute carrier family 13, member 5 isoform a 45 integral to membrane citrate transmembrane transporter activity 0 GTAAATGGCCATGAGGATGAT 0.567 NA 41 27 0 0 0.00361 0 0 FBXO39 162517 broad.mit.edu 37 17 6683462 6683462 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:6683462T>A uc010vtg.1 + 2 395 c.275T>A c.(274-276)CTG>CAG p.L92Q NM_153230 NP_694962 Q8N4B4 FBX39_HUMAN F-box protein 39 92 ovary(1)|skin(1) 2 CTGGAGCACCTGGAGGTCAAA 0.483 NA 101 53 0 0 0.00361 0 0 TP53 7157 broad.mit.edu 37 17 7578457 7578457 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:7578457C>G uc002gim.2 - 5 667 c.473G>C c.(472-474)CGC>CCC p.R158P TP53_uc002gig.1_Missense_Mutation_p.R158P|TP53_uc002gih.2_Missense_Mutation_p.R158P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26P|TP53_uc010cng.1_Missense_Mutation_p.R26P|TP53_uc002gii.1_Missense_Mutation_p.R26P|TP53_uc010cnh.1_Missense_Mutation_p.R158P|TP53_uc010cni.1_Missense_Mutation_p.R158P|TP53_uc002gij.2_Missense_Mutation_p.R158P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65P|TP53_uc002gio.2_Missense_Mutation_p.R26P|TP53_uc010vug.1_Missense_Mutation_p.R119P NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 158 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(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) GGCCATGGCGCGGACGCGGGT 0.627 Pancreas(47;798 1329 9957 10801) 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-Fraumensyndrome|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) 54 30 0 0 0.00361 0 0 C17orf68 80169 broad.mit.edu 37 17 8140694 8140694 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:8140694T>A uc002gkq.3 - 5 850 c.791A>T c.(790-792)CAG>CTG p.Q264L C17orf68_uc010cnv.2_RNA NM_025099 NP_079375 Q2NKJ3 CTC1_HUMAN alpha accessory factor 132 264 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding 0 AGTCCTCACCTGCACGATGAT 0.498 NA 58 37 0 0 0.00361 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8222370 8222370 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:8222370C>A uc002glc.2 + 13 2200 c.2079C>A c.(2077-2079)GTC>GTA p.V693V ARHGEF15_uc002gld.2_Silent_p.V693V|ARHGEF15_uc010vuw.1_Silent_p.V582V NM_173728 NP_776089 O94989 ARHGF_HUMAN Rho guanine exchange factor 15 693 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 GCTCCCTGGTCCAGGCCCAGC 0.647 NA 60 30 2.2129e-31 3.94081e-31 0.00361 1 0 MYH10 4628 broad.mit.edu 37 17 8448782 8448782 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:8448782C>T uc002gll.2 - 12 1481 c.1385G>A c.(1384-1386)GGA>GAA p.G462E MYH10_uc002glm.2_Missense_Mutation_p.G472E|MYH10_uc010cnx.2_Missense_Mutation_p.G471E NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 462 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 AATTTCAAATCCAGCAATATC 0.353 NA 23 66 0 0 0.00278 0 0 MYH13 8735 broad.mit.edu 37 17 10233706 10233706 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:10233706C>A uc002gmk.1 - 21 2523 c.2433G>T c.(2431-2433)AGG>AGT p.R811S NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 811 IQ. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TGTGTCACCTCCTCTCCATCA 0.537 NA 24 12 7.63505e-26 1.33255e-25 0.002445 1 0 MYH8 4626 broad.mit.edu 37 17 10302883 10302883 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:10302883C>A uc002gmm.2 - 28 3934 c.3839G>T c.(3838-3840)AGA>ATA p.R1280I uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1280 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 CAGGCGCGCTCTCTGTGCTGT 0.468 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 13 138 6.81908e-15 1.0486e-14 0.00245 1 0 MYH4 4622 broad.mit.edu 37 17 10357003 10357003 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:10357003G>A uc002gmn.2 - 23 3002 c.2891C>T c.(2890-2892)ACA>ATA p.T964I uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 964 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 CTTGGCCAGTGTCAGCTCAAG 0.413 NA 38 277 0 0 0.009718 0 0 MYH2 4620 broad.mit.edu 37 17 10429960 10429960 + Nonsense_Mutation SNP G G T rs1042076 byFrequency TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:10429960G>T uc010coi.2 - 30 4271 c.4143C>A c.(4141-4143)TAC>TAA p.Y1381* uc002gml.1_Intron|MYH2_uc002gmp.3_Nonsense_Mutation_p.Y1381*|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1381 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CGTCCGTCTCGTATTTGGTCC 0.532 NA 16 210 1.40151e-16 2.2385e-16 0.010504 1 0 ZNF287 57336 broad.mit.edu 37 17 16455682 16455682 + Missense_Mutation SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:16455682A>G uc002gqi.2 - 6 2227 c.1774T>C c.(1774-1776)TAT>CAT p.Y592H NM_020653 NP_065704 Q9HBT7 ZN287_HUMAN zinc finger protein 287 585 C2H2-type 9. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) TTACATATATAGGATTTCTCT 0.378 NA 35 41 0 0 0.00874 0 0 ZNF287 57336 broad.mit.edu 37 17 16466476 16466476 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:16466476T>A uc002gqi.2 - 5 1152 c.699A>T c.(697-699)TTA>TTT p.L233F NM_020653 NP_065704 Q9HBT7 ZN287_HUMAN zinc finger protein 287 226 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) TAGGGCCTTCTAAAATTTCTT 0.358 NA 31 21 0 0 0.004878 0 0 SMCR8 140775 broad.mit.edu 37 17 18220322 18220322 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:18220322C>T uc002gsy.3 + 1 1729 c.1219C>T c.(1219-1221)CCA>TCA p.P407S NM_144775 NP_658988 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, 407 central_nervous_system(1) 1 AGAAGAATGCCCAATTCCTAA 0.468 NA 13 37 0 0 0.00245 0 0 LGALS9C 654346 broad.mit.edu 37 17 18392294 18392294 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:18392294G>A uc002gtw.2 + 5 554 c.484G>A c.(484-486)GTG>ATG p.V162M LGALS9C_uc010vyb.1_Missense_Mutation_p.V74M NM_001040078 NP_001035167 Q6DKI2 LEG9C_HUMAN galectin 9 like 162 sugar binding ovary(1) 1 CTTCTCCACGGTGCCGTTCTC 0.597 NA 4 67 0 0 0.000602 0 0 MAP2K3 5606 broad.mit.edu 37 17 21207773 21207773 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:21207773G>T uc002gys.2 + 8 869 c.604G>T c.(604-606)GGC>TGC p.G202C MAP2K3_uc002gyt.2_Missense_Mutation_p.G173C|MAP2K3_uc002gyu.2_Missense_Mutation_p.G173C NM_145109 NP_659731 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 202 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) CAACAAGGAGGGCCATGTGAA 0.577 NA 26 95 2.41591e-17 3.89638e-17 0.004656 1 0 KCNJ12 3768 broad.mit.edu 37 17 21318894 21318894 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:21318894G>T uc002gyv.1 + 3 945 c.240G>T c.(238-240)TGG>TGT p.W80C NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 80 Cytoplasmic (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) ACATCCGCTGGCGGTACATGC 0.572 NA Prostate(3;0.18) 13 73 3.70931e-20 6.14911e-20 0.006122 1 0 TIAF1 9220 broad.mit.edu 37 17 27401991 27401991 + Translation_Start_Site SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:27401991C>T uc002hdv.1 - 1 637 c.-773G>A c.(-775--771)GCGTG>GCATG MYO18A_uc010wbc.1_Intron|MYO18A_uc002hds.2_Intron|MYO18A_uc010csa.1_Intron|MYO18A_uc002hdt.1_Intron|MYO18A_uc002hdu.1_Intron NM_004740 NP_004731 O95411 TIAF1_HUMAN TGFB1-induced anti-apoptotic factor 1 anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade nucleus 0 Lung NSC(42;0.015) Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) TAAGCACGCACGCCTTTGGTT 0.507 NA 6 23 0 0 0.001168 0 0 SSH2 85464 broad.mit.edu 37 17 27958224 27958225 + Nonsense_Mutation DNP CC CC AA TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:27958224_27958225CC>AA uc002heo.1 - 15 3906_3907 c.3906_3907GG>TT c.(3904-3909)ATGGAG>ATTTAG p.1302_1303ME>I* SSH2_uc010wbh.1_Nonsense_Mutation_p.1329_1330ME>I* NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 1302_1303 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 TCTTGGTCCTCCATCGCGTGCA 0.525 NA 15 55 0 0 0.004672 0 0 CCDC55 84081 broad.mit.edu 37 17 28506291 28506291 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:28506291G>C uc002heu.2 + 5 512 c.484G>C c.(484-486)GAA>CAA p.E162Q CCDC55_uc002hev.2_Missense_Mutation_p.E108Q|CCDC55_uc010wbl.1_Missense_Mutation_p.E108Q|CCDC55_uc010wbm.1_Missense_Mutation_p.E108Q|CCDC55_uc002hex.2_Missense_Mutation_p.E108Q NM_032141 NP_115517 Q9H0G5 NSRP1_HUMAN coiled-coil domain containing 55 isoform 1 162 Necessary for alternative splicing activity.|Potential. developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome nuclear speck|ribonucleoprotein complex mRNA binding|protein binding 0 AGAAGAAAGAGAAAAGAGGGC 0.428 NA 12 15 0 0 0.001855 0 0 ATAD5 79915 broad.mit.edu 37 17 29171879 29171879 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:29171879C>G uc002hfs.1 + 6 2741 c.2395C>G c.(2395-2397)CTT>GTT p.L799V ATAD5_uc002hft.1_Missense_Mutation_p.L696V NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 799 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) TCCTTTATTTCTTGTCAGAAA 0.308 NA 21 62 0 0 0.00632 0 0 NF1 4763 broad.mit.edu 37 17 29677323 29677323 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:29677323G>A uc002hgg.2 + 50 7777 c.7444G>A c.(7444-7446)GAC>AAC p.D2482N NF1_uc002hgh.2_Missense_Mutation_p.D2461N|NF1_uc010cso.2_Missense_Mutation_p.D670N|NF1_uc010wbt.1_Silent_p.V12V|NF1_uc010wbu.1_RNA NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 2482 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TCATCATGGTGACCCTTCCTA 0.363 NA D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 14 57 0 0 0.003163 0 0 RFFL 117584 broad.mit.edu 37 17 33348688 33348688 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:33348688C>A uc002hin.1 - 3 466 c.293G>T c.(292-294)CGA>CTA p.R98L RFFL_uc002hiq.2_Intron|RFFL_uc002him.1_Missense_Mutation_p.R98L|RFFL_uc010cti.1_Missense_Mutation_p.R104L|RFFL_uc002hip.1_Missense_Mutation_p.R98L|RFFL_uc002hio.1_Missense_Mutation_p.R98L NM_001017368 NP_001017368 Q8WZ73 RFFL_HUMAN rififylin 98 apoptosis membrane ligase activity|zinc ion binding 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) GAGCTCCTCTCGCTGAAAGGC 0.517 NA 35 42 4.32679e-17 6.9481e-17 0.006999 1 0 FNDC8 54752 broad.mit.edu 37 17 33454165 33454165 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:33454165C>A uc002hix.2 + 2 396 c.314C>A c.(313-315)CCC>CAC p.P105H NM_017559 NP_060029 Q8TC99 FNDC8_HUMAN fibronectin type III domain containing 8 105 ovary(2) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.022) GTGACCCAGCCCAACAGCAGC 0.552 NA 67 119 1.25089e-41 2.29638e-41 0.00361 1 0 CCL14 6358 broad.mit.edu 37 17 34311469 34311469 + Silent SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:34311469T>A uc010wcr.1 - 2 178 c.99A>T c.(97-99)TCA>TCT p.S33S CCL16_uc002hkl.2_5'Flank|CCL16_uc002hkm.2_5'Flank|CCL14_uc010wcq.1_Silent_p.S49S|CCL14_uc002hkn.2_RNA|CCL14-CCL15_uc010wcs.1_RNA|CCL14-CCL15_uc010wct.1_RNA|uc002hkq.2_5'Flank NM_032963 NP_116739 Q16627 CCL14_HUMAN chemokine (C-C motif) ligand 14 isoform 1 33 cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation extracellular space chemokine activity|signal transducer activity 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGCAGCACTCTGAGGGGTGGT 0.552 NA 19 39 0 0 0.010504 0 0 PLXDC1 57125 broad.mit.edu 37 17 37234203 37234203 + Silent SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:37234203G>C uc002hrg.2 - 11 1361 c.1149C>G c.(1147-1149)ACC>ACG p.T383T uc002hre.1_Intron|uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Silent_p.T91T|PLXDC1_uc002hrh.2_RNA|PLXDC1_uc002hri.2_RNA|PLXDC1_uc002hrj.1_RNA|PLXDC1_uc002hrk.1_RNA NM_020405 NP_065138 Q8IUK5 PXDC1_HUMAN plexin domain containing 1 precursor 383 Extracellular (Potential). angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction ovary(1)|kidney(1)|skin(1) 3 GGGAGGAGGAGGTAGTGGTGA 0.597 NA 21 94 0 0 0.003954 0 0 TOP2A 7153 broad.mit.edu 37 17 38556818 38556818 + Missense_Mutation SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:38556818A>G uc002huq.2 - 22 2888 c.2762T>C c.(2761-2763)ATT>ACT p.I921T NM_001067 NP_001058 P11388 TOP2A_HUMAN DNA topoisomerase II, alpha isozyme 921 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) TGAGATTTCAATGGTTGTAGA 0.353 NA 8 11 0 0 0.006214 0 0 KRT31 3881 broad.mit.edu 37 17 39551870 39551870 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:39551870G>T uc002hwn.2 - 4 647 c.594C>A c.(592-594)GTC>GTA p.V198V KRT31_uc010cxn.2_Silent_p.V198V NM_002277 NP_002268 Q15323 K1H1_HUMAN keratin 31 198 Rod.|Coil 1B. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton 0 Breast(137;0.000496) GCAGGGTATTGACCTCCTATG 0.488 NA 5 46 0.000157383 0.000177026 0.00308 1 0 KRT38 8687 broad.mit.edu 37 17 39595035 39595035 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:39595035T>A uc002hwq.1 - 4 1231 c.808A>T c.(808-810)AAC>TAC p.N270Y NM_006771 NP_006762 O76015 KRT38_HUMAN keratin 38 270 Coil 2.|Rod. intermediate filament structural molecule activity skin(2) 2 Breast(137;0.000496) AGCACCCTGTTCAGGTCAATG 0.587 NA 38 206 0 0 0.002522 0 0 KRT36 8689 broad.mit.edu 37 17 39646024 39646024 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:39646024G>A uc002hwt.2 - 1 93 c.93C>T c.(91-93)ATC>ATT p.I31I NM_003771 NP_003762 O76013 KRT36_HUMAN keratin 36 31 Head. intermediate filament protein binding|structural constituent of epidermis 0 Breast(137;0.000286) CCACAGAACGGATGGAGGACA 0.637 NA 12 62 0 0 0.00245 0 0 KRT17 3872 broad.mit.edu 37 17 39780443 39780443 + Missense_Mutation SNP C C T rs150004075 byFrequency TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:39780443C>T uc002hxh.2 - 1 440 c.319G>A c.(319-321)GAG>AAG p.E107K JUP_uc010wfs.1_Intron|KRT17_uc010wft.1_Missense_Mutation_p.E107K NM_000422 NP_000413 Q04695 K1C17_HUMAN keratin 17 107 Coil 1A.|Peptide epitope S1; induces T-cell and keratinocyte proliferation and IFN-gamma production.|Rod. Missing (in Ref. 5; AAH72018). epidermis development cytoplasm|intermediate filament protein binding|structural constituent of cytoskeleton ovary(1)|skin(1) 2 Breast(137;0.000307) GTGTTGGCCTCCTCCAGGGCA 0.622 Pancreas(92;1242 2086 39193 50508) NA Steatocystoma_Multiplex 32 243 0 0 0.004289 0 0 FKBP10 60681 broad.mit.edu 37 17 39975577 39975577 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:39975577C>T uc002hxv.2 + 5 1168 c.843C>T c.(841-843)CGC>CGT p.R281R FKBP10_uc002hxw.1_5'UTR NM_021939 NP_068758 Q96AY3 FKB10_HUMAN FK506 binding protein 10 precursor 281 protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity ovary(1) 1 Breast(137;0.00122) BRCA - Breast invasive adenocarcinoma(366;0.148) GCTGTGTCCGCAGAGCCGGGG 0.632 NA 32 79 0 0 0.003755 0 0 GHDC 84514 broad.mit.edu 37 17 40344963 40344963 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:40344963G>A uc002hzd.2 - 3 832 c.348C>T c.(346-348)CCC>CCT p.P116P GHDC_uc002hzg.1_Silent_p.P116P|GHDC_uc010wgg.1_Intron|GHDC_uc002hze.3_Silent_p.P116P|GHDC_uc002hzf.3_Silent_p.P116P|GHDC_uc010cxz.2_RNA NM_032484 NP_115873 Q8N2G8 GHDC_HUMAN LGP1 homolog isoform 1 116 endoplasmic reticulum|nuclear envelope 0 all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304) BRCA - Breast invasive adenocarcinoma(366;0.124) TTGAGGTCGGGGGCAGTGGCT 0.592 NA 39 111 0 0 0.006999 0 0 PLEKHH3 79990 broad.mit.edu 37 17 40823471 40823471 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:40823471C>G uc002iau.2 - 8 1649 c.1182G>C c.(1180-1182)GAG>GAC p.E394D PLEKHH3_uc010cyl.1_RNA|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Missense_Mutation_p.E394D NM_024927 NP_079203 Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H 394 MyTH4. signal transduction cytoskeleton large_intestine(1)|ovary(1) 2 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) ACGCGGAAATCTCCGCCAGCG 0.682 NA 12 20 0 0 0.001855 0 0 RAMP2 10266 broad.mit.edu 37 17 40914379 40914379 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:40914379C>A uc002ibg.2 + 3 238 c.170C>A c.(169-171)ACG>AAG p.T57K LOC100190938_uc002ibd.1_5'Flank|LOC100190938_uc002ibe.3_5'Flank|LOC100190938_uc002ibf.3_5'Flank|RAMP2_uc010cyt.2_Missense_Mutation_p.T62K|RAMP2_uc002ibh.2_Intron NM_005854 NP_005845 O60895 RAMP2_HUMAN receptor activity modifying protein 2 precursor 57 Extracellular (Potential). intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway coated pit|integral to plasma membrane|lysosome protein transporter activity 0 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0741) Pramlintide(DB01278) ACAGGGGGGACGGTGAAGAAC 0.498 NA 74 124 4.00701e-44 7.38343e-44 0.00361 1 0 MPP2 4355 broad.mit.edu 37 17 41958884 41958884 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:41958884C>T uc010wip.1 - 7 947 c.890G>A c.(889-891)CGC>CAC p.R297H MPP2_uc002ien.1_Missense_Mutation_p.R269H|MPP2_uc010wim.1_Missense_Mutation_p.R241H|MPP2_uc002ieo.1_Missense_Mutation_p.R252H|MPP2_uc010win.1_Missense_Mutation_p.R113H|MPP2_uc010wio.1_Missense_Mutation_p.R241H NM_005374 NP_005365 Q14168 MPP2_HUMAN palmitoylated membrane protein 2 276 SH3. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity 0 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) GGCGTTGAAGCGCAGGCCTGC 0.587 NA 50 61 0 0 0.00361 0 0 GRN 2896 broad.mit.edu 37 17 42429545 42429545 + Missense_Mutation SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:42429545A>G uc002igp.1 + 11 1561 c.1342A>G c.(1342-1344)ACC>GCC p.T448A GRN_uc002igr.1_Missense_Mutation_p.T242A NM_002087 NP_002078 P28799 GRN_HUMAN granulin precursor 448 signal transduction extracellular space cytokine activity|growth factor activity ovary(2)|central_nervous_system(2)|skin(1) 5 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) TGACCAGCACACCAGCTGCCC 0.667 NA 24 113 0 0 0.007291 0 0 GPATCH8 23131 broad.mit.edu 37 17 42475031 42475031 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:42475031C>G uc002igw.1 - 8 4478 c.4414G>C c.(4414-4416)GCT>CCT p.A1472P GPATCH8_uc002igv.1_Missense_Mutation_p.A1394P|GPATCH8_uc010wiz.1_Missense_Mutation_p.A1394P NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1472 Poly-Ala. intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GCTGCTGCAGCAGGCCGTGGA 0.602 NA 6 43 0 0 0.001984 0 0 HOXB5 3215 broad.mit.edu 37 17 46669576 46669576 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:46669576G>C uc002inr.2 - 2 864 c.805C>G c.(805-807)CCC>GCC p.P269A HOXB3_uc010wlm.1_5'Flank|HOXB3_uc010dbf.2_5'Flank|HOXB3_uc010dbg.2_5'Flank NM_002147 NP_002138 P09067 HXB5_HUMAN homeobox B5 269 nucleus sequence-specific DNA binding 0 CGGGCTCAGGGCTGGAAGGCG 0.657 NA 15 50 0 0 0.004007 0 0 TTLL6 284076 broad.mit.edu 37 17 46868950 46868950 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:46868950G>A uc010wlo.1 - 10 1049 c.1014C>T c.(1012-1014)TTC>TTT p.F338F TTLL6_uc002iob.2_Silent_p.F31F|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Silent_p.F91F|TTLL6_uc002iod.2_Silent_p.F185F NM_001130918 NP_001124390 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 290 TTL. cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity 0 AGTATGCACTGAAGGTGGAGA 0.557 NA OREG0024526 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 41 0 0 0.007291 0 0 COL1A1 1277 broad.mit.edu 37 17 48275559 48275559 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:48275559G>C uc002iqm.2 - 7 677 c.551C>G c.(550-552)TCT>TGT p.S184C NM_000088 NP_000079 P02452 CO1A1_HUMAN alpha 1 type I collagen preproprotein 184 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1) 382 Collagenase(DB00048)|Palifermin(DB00039) ACGAGGACCAGAGGGACCCTA 0.562 NA T PDGFB|USP6 dermatofibrosarcoma protuberans|aneurysmal bone cyst Osteogenesis imperfecta OREG0024560 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 47 0 0 0.00361 0 0 CACNA1G 8913 broad.mit.edu 37 17 48655862 48655862 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:48655862C>A uc002irk.1 + 9 2610 c.2238C>A c.(2236-2238)GGC>GGA p.G746G CACNA1G_uc002iri.1_Silent_p.G746G|CACNA1G_uc002irj.1_Silent_p.G746G|CACNA1G_uc002irl.1_Silent_p.G746G|CACNA1G_uc002irm.1_Silent_p.G746G|CACNA1G_uc002irn.1_Silent_p.G746G|CACNA1G_uc002iro.1_Silent_p.G746G|CACNA1G_uc002irp.1_Silent_p.G746G|CACNA1G_uc002irq.1_Silent_p.G746G|CACNA1G_uc002irr.1_Silent_p.G746G|CACNA1G_uc002irs.1_Silent_p.G746G|CACNA1G_uc002irt.1_Silent_p.G746G|CACNA1G_uc002irv.1_Silent_p.G746G|CACNA1G_uc002irw.1_Silent_p.G746G|CACNA1G_uc002iru.1_Silent_p.G746G|CACNA1G_uc002irx.1_Silent_p.G659G|CACNA1G_uc002iry.1_Silent_p.G659G|CACNA1G_uc002irz.1_Silent_p.G659G|CACNA1G_uc002isa.1_Silent_p.G659G|CACNA1G_uc002isb.1_Silent_p.G659G|CACNA1G_uc002isc.1_Silent_p.G659G|CACNA1G_uc002isd.1_Silent_p.G659G|CACNA1G_uc002ise.1_Silent_p.G659G|CACNA1G_uc002isf.1_Silent_p.G659G|CACNA1G_uc002isg.1_Silent_p.G659G|CACNA1G_uc002ish.1_Silent_p.G659G|CACNA1G_uc002isi.1_Silent_p.G659G NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 746 Helical; Name=S1 of repeat II; (Potential).|II. axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) AGTACTTTGGCCGGGGAATCA 0.582 NA 34 50 4.92203e-23 8.4127e-23 0.00623 1 0 AKAP1 8165 broad.mit.edu 37 17 55193519 55193519 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:55193519G>T uc002iux.2 + 7 2560 c.2329G>T c.(2329-2331)GCC>TCC p.A777S AKAP1_uc010wnl.1_Missense_Mutation_p.A777S|AKAP1_uc010dcm.2_Missense_Mutation_p.A777S NM_003488 NP_003479 Q92667 AKAP1_HUMAN A-kinase anchor protein 1 precursor 777 Tudor. blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding ovary(1) 1 Breast(9;5.46e-08) CTGGTGGCGAGCCCAAGTGGT 0.617 NA 14 47 1.37285e-15 2.15568e-15 0.004007 1 0 MPO 4353 broad.mit.edu 37 17 56355235 56355235 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:56355235G>C uc002ivu.1 - 7 1334 c.1157C>G c.(1156-1158)CCC>CGC p.P386R NM_000250 NP_000241 P05164 PERM_HUMAN myeloperoxidase 386 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity ovary(2)|large_intestine(1)|pancreas(1) 4 Cefdinir(DB00535) GAGGAGACAGGGGTCATCGTG 0.632 NA 38 56 0 0 0.003214 0 0 SEPT4 5414 broad.mit.edu 37 17 56599366 56599366 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:56599366C>A uc002iwm.1 - 6 887 c.759G>T c.(757-759)GTG>GTT p.V253V SEPT4_uc002iwk.1_Silent_p.V106V|SEPT4_uc010wnw.1_Silent_p.V106V|SEPT4_uc002iwl.1_Silent_p.V106V|SEPT4_uc002iwn.1_Silent_p.V154V|SEPT4_uc002iwo.1_Silent_p.V234V|SEPT4_uc002iwp.1_Silent_p.V234V|SEPT4_uc010wnx.1_Silent_p.V268V|SEPT4_uc010wny.1_Silent_p.V245V|SEPT4_uc010dcy.1_Silent_p.V135V NM_004574 NP_004565 O43236 SEPT4_HUMAN septin 4 isoform 1 253 apoptosis|cell cycle|cytokinesis|regulation of apoptosis cytoskeleton|mitochondrion|nucleus GTP binding|GTPase activity|protein binding|structural molecule activity 0 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGCAGCAGTGCACCCTGTTGT 0.557 NA 38 59 6.68952e-21 1.12146e-20 0.003214 1 0 TRIM37 4591 broad.mit.edu 37 17 57157191 57157191 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:57157191C>A uc002iwy.3 - 7 984 c.540G>T c.(538-540)CGG>CGT p.R180R TRIM37_uc002iwz.3_Silent_p.R180R|TRIM37_uc002ixa.3_Silent_p.R58R|TRIM37_uc010woc.1_Silent_p.R146R NM_001005207 NP_001005207 O94972 TRI37_HUMAN tripartite motif-containing 37 protein 180 Potential. perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1) 7 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TCCTAATTTCCCGAACACGCT 0.363 NA Mulibrey_Nanism 29 99 2.08457e-15 3.25604e-15 0.002096 1 0 EFCAB3 146779 broad.mit.edu 37 17 60472491 60472491 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:60472491C>A uc002izu.1 + 6 508 c.430C>A c.(430-432)CTA>ATA p.L144I EFCAB3_uc010wpc.1_Missense_Mutation_p.L196I NM_173503 NP_775774 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 isoform b 144 calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) GTTTGAAATCCTATCAAGGCT 0.393 NA 19 89 1.96895e-08 2.58414e-08 0.00278 1 0 TANC2 26115 broad.mit.edu 37 17 61417549 61417549 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:61417549C>T uc002jal.3 + 10 1464 c.1441C>T c.(1441-1443)CGC>TGC p.R481C TANC2_uc010wpe.1_Missense_Mutation_p.R391C NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and 481 binding ovary(2) 2 CTTGCTCTGCCGCTCACCTCA 0.527 NA 48 39 0 0 0.00361 0 0 KCNH6 81033 broad.mit.edu 37 17 61607486 61607486 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:61607486C>A uc002jay.2 + 3 422 c.342C>A c.(340-342)CCC>CCA p.P114P KCNH6_uc002jax.1_Silent_p.P114P|KCNH6_uc010wpl.1_5'UTR|KCNH6_uc010wpm.1_Silent_p.P114P|KCNH6_uc002jaz.1_Silent_p.P114P NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 114 PAC.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) ATGTGGTGCCCGTGAAGAACG 0.642 NA 17 92 1.15919e-05 1.35939e-05 0.008871 1 0 GH1 2688 broad.mit.edu 37 17 61994765 61994765 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:61994765G>A uc002jdj.2 - 5 620 c.558C>T c.(556-558)TAC>TAT p.Y186Y GH1_uc002jdi.2_Silent_p.Y171Y|GH1_uc002jdk.2_Silent_p.Y146Y|GH1_uc002jdl.2_Silent_p.Y91Y|GH1_uc002jdm.2_3'UTR|GH1_uc002jdn.2_Missense_Mutation_p.T140M NM_000515 NP_000506 P01241 SOMA_HUMAN growth hormone 1 isoform 1 186 glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus extracellular space growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding 0 AGAGCAGCCCGTAGTTCTTGA 0.567 NA 28 131 0 0 0.002445 0 0 SMURF2 64750 broad.mit.edu 37 17 62553734 62553734 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:62553734C>A uc002jep.1 - 13 1811 c.1423G>T c.(1423-1425)GTT>TTT p.V475F SMURF2_uc002jeq.1_Missense_Mutation_p.V234F|SMURF2_uc002jer.1_Missense_Mutation_p.V234F NM_022739 NP_073576 Q9HAU4 SMUF2_HUMAN SMAD specific E3 ubiquitin protein ligase 2 475 HECT. BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex identical protein binding|SMAD binding|ubiquitin-protein ligase activity skin(3)|lung(1) 4 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;9.88e-12) ACCGGATTAACTGCAGAATCA 0.313 NA 12 95 2.68362e-12 3.93545e-12 0.001368 1 0 RGS9 8787 broad.mit.edu 37 17 63149633 63149633 + Missense_Mutation SNP A A C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:63149633A>C uc002jfe.2 + 2 261 c.151A>C c.(151-153)ACA>CCA p.T51P RGS9_uc010dem.2_Missense_Mutation_p.T51P|RGS9_uc002jfd.2_Missense_Mutation_p.T51P|RGS9_uc002jff.2_RNA NM_003835 NP_003826 O75916 RGS9_HUMAN regulator of G-protein signaling 9 isoform 1 51 DEP. intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity ovary(2)|skin(2) 4 TCATGCCATGACAGGTGATGT 0.498 NA 7 94 0 0 0.00308 0 0 CACNG5 27091 broad.mit.edu 37 17 64881147 64881147 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:64881147G>T uc010wqi.1 + 6 855 c.618G>T c.(616-618)GCG>GCT p.A206A CACNG5_uc010wqj.1_Silent_p.A206A NM_145811 NP_665810 Q9UF02 CCG5_HUMAN voltage-dependent calcium channel gamma-5 206 SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) GGTACACCGCGGAGGACATGT 0.612 NA 27 42 4.74835e-14 7.16833e-14 0.002096 1 0 NOL11 25926 broad.mit.edu 37 17 65739938 65739938 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:65739938G>C uc002jgd.1 + 18 2126 c.2123G>C c.(2122-2124)AGA>ACA p.R708T NOL11_uc010wql.1_Missense_Mutation_p.R526T|NOL11_uc010deu.1_Missense_Mutation_p.R303T NM_015462 NP_056277 Q9H8H0 NOL11_HUMAN nucleolar protein 11 708 nucleolus 0 all_cancers(12;1.54e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24) AAGAATAATAGAGGATTATAT 0.318 NA 7 40 0 0 0.001984 0 0 ABCA9 10350 broad.mit.edu 37 17 67023203 67023203 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:67023203C>G uc002jhu.2 - 15 2107 c.1964G>C c.(1963-1965)CGA>CCA p.R655P ABCA9_uc010dez.2_Missense_Mutation_p.R655P NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 655 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) ATTCCATATTCGGTGCCTTGA 0.433 NA 40 45 0 0 0.002522 0 0 KCNJ2 3759 broad.mit.edu 37 17 68171232 68171232 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:68171232G>T uc010dfg.2 + 2 453 c.52G>T c.(52-54)GGT>TGT p.G18C KCNJ2_uc002jir.2_Missense_Mutation_p.G18C NM_000891 NP_000882 P63252 IRK2_HUMAN potassium inwardly-rectifying channel J2 18 Cytoplasmic (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding 0 Breast(10;1.64e-08) AGAAGAAGACGGTATGAAGTT 0.522 NA 21 34 1.9806e-07 2.50438e-07 0.002299 1 0 SDK2 54549 broad.mit.edu 37 17 71387661 71387661 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:71387661C>A uc010dfm.2 - 28 3915 c.3915G>T c.(3913-3915)ATG>ATT p.M1305I SDK2_uc002jjt.3_Missense_Mutation_p.M464I|SDK2_uc010dfn.2_Missense_Mutation_p.M984I NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 1305 Fibronectin type-III 8.|Extracellular (Potential). cell adhesion integral to membrane ovary(2) 2 ACAGGATGCCCATGGGTGGTC 0.662 NA 10 9 0.000442599 0.000487515 0.006214 1 0 SDK2 54549 broad.mit.edu 37 17 71389876 71389876 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:71389876C>A uc010dfm.2 - 27 3721 c.3721G>T c.(3721-3723)GAG>TAG p.E1241* SDK2_uc002jjt.3_Nonsense_Mutation_p.E400*|SDK2_uc010dfn.2_Nonsense_Mutation_p.E920* NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 1241 Fibronectin type-III 7.|Extracellular (Potential). cell adhesion integral to membrane ovary(2) 2 GAGTCCTTCTCCTTATACATC 0.587 NA 18 22 4.26978e-12 6.21857e-12 0.00333 1 0 DNAI2 64446 broad.mit.edu 37 17 72277988 72277988 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:72277988G>T uc002jkf.2 + 2 131 c.32G>T c.(31-33)CGC>CTC p.R11L DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate polypeptide 2 11 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity ovary(2)|central_nervous_system(1) 3 GTCAAGAAGCGCAGCGAGTTC 0.637 NA Kartagener_syndrome 15 92 1.56452e-12 2.31028e-12 0.007413 1 0 CD300LB 124599 broad.mit.edu 37 17 72521974 72521974 + Missense_Mutation SNP T T C rs113622355 TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:72521974T>C uc002jkx.2 - 2 407 c.394A>G c.(394-396)AGG>GGG p.R132G CD300LB_uc010wqz.1_Missense_Mutation_p.R132G NM_174892 NP_777552 A8K4G0 CLM7_HUMAN CD300 molecule-like family member b 95 Ig-like V-type.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(1) 1 TCATCTCGCCTGAGCCCCTCC 0.507 NA 48 143 0 0 0.00361 0 0 CD300LD 100131439 broad.mit.edu 37 17 72578359 72578359 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:72578359G>T uc002jkz.2 - 3 500 c.471C>A c.(469-471)ACC>ACA p.T157T C17orf77_uc002jla.1_5'Flank NM_001115152 NP_001108624 Q6UXZ3 CLM4_HUMAN CD300 molecule-like family member d precursor 157 Extracellular (Potential). integral to membrane|plasma membrane receptor activity 0 CCACCTACCTGGTGAGGGGGC 0.478 NA 14 47 1.15088e-07 1.4602e-07 0.004007 1 0 CD300E 342510 broad.mit.edu 37 17 72613290 72613290 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:72613290G>T uc002jlb.1 - 2 396 c.355C>A c.(355-357)CCC>ACC p.P119T NM_181449 NP_852114 Q496F6 CLM2_HUMAN CD300e molecule precursor 119 Ig-like V-type.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity skin(2)|large_intestine(1)|ovary(1) 4 AGGTCCGAGGGATCGCGTGAC 0.547 NA 32 113 2.20474e-14 3.3625e-14 0.003755 1 0 MGAT5B 146664 broad.mit.edu 37 17 74901414 74901414 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:74901414A>T uc002jti.2 + 6 990 c.887A>T c.(886-888)CAG>CTG p.Q296L MGAT5B_uc002jth.2_Missense_Mutation_p.Q285L NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN N-acetylglucosaminyltranferase VB isoform 2 285 Lumenal (Potential). Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(2)|skin(1) 3 GACCAGAAGCAGGTGCGTGGC 0.622 NA 5 12 0 0 0.000602 0 0 CARD14 79092 broad.mit.edu 37 17 78169367 78169367 + Nonsense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:78169367G>T uc002jxw.1 + 11 1705 c.1510G>T c.(1510-1512)GAG>TAG p.E504* CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Nonsense_Mutation_p.E504*|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_Nonsense_Mutation_p.E267*|CARD14_uc010dhu.1_Nonsense_Mutation_p.E302* NM_024110 NP_077015 Q9BXL6 CAR14_HUMAN caspase recruitment domain protein 14 isoform 1 504 activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding ovary(4)|skin(1) 5 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CAGCTGCCTGGAGATCCCGGA 0.647 NA 4 19 1.23904e-05 1.44506e-05 0.000602 1 0 RNF213 57674 broad.mit.edu 37 17 78350164 78350164 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:78350164C>T uc002jyh.1 + 27 7691 c.7468C>T c.(7468-7470)CGT>TGT p.R2490C uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.R872C NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TGATATCAGCCGTTTTGCAAC 0.453 NA 19 164 0 0 0.001882 0 0 BAIAP2 10458 broad.mit.edu 37 17 79080634 79080634 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:79080634G>A uc002jzg.2 + 12 1535 c.1427G>A c.(1426-1428)CGG>CAG p.R476Q BAIAP2_uc002jyz.3_Missense_Mutation_p.R476Q|BAIAP2_uc002jza.2_Missense_Mutation_p.R476Q|BAIAP2_uc002jzc.2_Missense_Mutation_p.R477Q|BAIAP2_uc002jzb.2_Missense_Mutation_p.R233Q|BAIAP2_uc002jzd.2_Missense_Mutation_p.R476Q|BAIAP2_uc002jzf.2_Missense_Mutation_p.R476Q|BAIAP2_uc002jze.2_Missense_Mutation_p.R509Q|BAIAP2_uc010wuh.1_Missense_Mutation_p.R398Q|BAIAP2_uc002jzh.2_Missense_Mutation_p.R477Q|BAIAP2_uc010wui.1_Missense_Mutation_p.R339Q NM_017451 NP_059345 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 isoform 2 476 axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding 0 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GCCGCCTCCCGGGCCTTCCCC 0.706 NA 6 41 0 0 0.001168 0 0 CSNK1D 1453 broad.mit.edu 37 17 80231249 80231249 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:80231249C>T uc002kej.2 - 1 325 c.9G>A c.(7-9)CTG>CTA p.L3L CSNK1D_uc002kef.2_Silent_p.L3L|CSNK1D_uc002kei.2_Silent_p.L3L|CSNK1D_uc010wvj.1_5'UTR NM_001893 NP_001884 P48730 KC1D_HUMAN casein kinase 1, delta isoform 1 3 circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway centrosome|cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2) 2 Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155) TCCCGACTCTCAGCTCCATGG 0.592 NA 3 20 0 0 0.000602 0 0 CSNK1D 1453 broad.mit.edu 37 17 80231254 80231254 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:80231254C>G uc002kej.2 - 1 320 c.4G>C c.(4-6)GAG>CAG p.E2Q CSNK1D_uc002kef.2_Missense_Mutation_p.E2Q|CSNK1D_uc002kei.2_Missense_Mutation_p.E2Q|CSNK1D_uc010wvj.1_5'UTR NM_001893 NP_001884 P48730 KC1D_HUMAN casein kinase 1, delta isoform 1 2 circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway centrosome|cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2) 2 Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155) ACTCTCAGCTCCATGGCGGCG 0.612 NA 3 21 0 0 0.000602 0 0 ADCYAP1 116 broad.mit.edu 37 18 905486 905486 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr18:905486C>T uc010dkg.2 + 2 218 c.99C>T c.(97-99)TTC>TTT p.F33F ADCYAP1_uc010dkh.2_Silent_p.F33F NM_001099733 NP_001093203 P18509 PACA_HUMAN adenylate cyclase activating polypeptide 33 activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|peptide hormone receptor binding 0 GACTCCGGTTCCCCGGGATCA 0.632 NA 13 38 0 0 0.001368 0 0 EMILIN2 84034 broad.mit.edu 37 18 2891683 2891683 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr18:2891683G>T uc002kln.2 + 4 1717 c.1558G>T c.(1558-1560)GGG>TGG p.G520W NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 precursor 520 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding skin(2)|ovary(1) 3 READ - Rectum adenocarcinoma(2;0.1) CAGTCCCCCAGGGGCAGCAGC 0.507 NA 17 49 2.23348e-06 2.71339e-06 0.004007 1 0 LAMA1 284217 broad.mit.edu 37 18 6965403 6965403 + Missense_Mutation SNP C C A rs141811330 TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr18:6965403C>A uc002knm.2 - 50 7173 c.7079G>T c.(7078-7080)CGT>CTT p.R2360L LAMA1_uc002knl.2_5'UTR|LAMA1_uc010wzj.1_Missense_Mutation_p.R1836L NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2360 Laminin G-like 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CACTCTGCCACGAAACAGCTC 0.443 NA 13 56 0.000308642 0.000341227 0.003163 1 0 KIAA0802 23255 broad.mit.edu 37 18 8798277 8798277 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr18:8798277G>T uc002knr.2 + 10 2566 c.2424G>T c.(2422-2424)CAG>CAT p.Q808H KIAA0802_uc002knq.2_Missense_Mutation_p.Q767H|KIAA0802_uc002kns.2_Missense_Mutation_p.Q138H NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 1118 0 ACAGGGGACAGCCCCACAAAC 0.627 NA 7 26 0.00448238 0.00476433 0.004482 1 0 MC5R 4161 broad.mit.edu 37 18 13826379 13826379 + Nonsense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr18:13826379C>G uc010xaf.1 + 1 615 c.615C>G c.(613-615)TAC>TAG p.Y205* NM_005913 NP_005904 P33032 MC5R_HUMAN melanocortin 5 receptor 205 Helical; Name=5; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding ovary(3)|lung(2)|breast(1) 6 TGTCTCTGTACATACACATGT 0.597 NA 127 408 0 0 0.00361 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14752928 14752928 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr18:14752928C>G uc010dlo.2 + 3 607 c.427C>G c.(427-429)CTC>GTC p.L143V ANKRD30B_uc010xak.1_RNA NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 143 ANK 3. ovary(1)|skin(1) 2 CAACACGGCTCTCCATTATGC 0.433 NA 2 6 0 0 0.004672 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14799128 14799128 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr18:14799128G>T uc010dlo.2 + 21 2238 c.2058G>T c.(2056-2058)AAG>AAT p.K686N ANKRD30B_uc010xak.1_RNA NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 737 ovary(1)|skin(1) 2 GTCTTCTGAAGGTAATAACTT 0.294 NA 4 38 0.00024832 0.000277424 0.009096 1 0 GATA6 2627 broad.mit.edu 37 18 19751152 19751152 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr18:19751152C>A uc002ktt.1 + 2 312 c.47C>A c.(46-48)GCC>GAC p.A16D GATA6_uc002ktu.1_Missense_Mutation_p.A16D NM_005257 NP_005248 Q92908 GATA6_HUMAN GATA binding protein 6 16 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(3) 3 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) CGCTTCGGGGCCGCGGGTGCG 0.716 Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999) NA 10 18 3.86212e-05 4.42789e-05 0.008291 1 0 DSG2 1829 broad.mit.edu 37 18 29111197 29111197 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr18:29111197G>C uc002kwu.3 + 9 1450 c.1262G>C c.(1261-1263)GGA>GCA p.G421A NM_001943 NP_001934 Q14126 DSG2_HUMAN desmoglein 2 preproprotein 421 Extracellular (Potential).|Cadherin 4. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(2)|breast(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.0068) GAGGACACTGGACTACCAGCC 0.348 NA 22 53 0 0 0.00632 0 0 C18orf34 374864 broad.mit.edu 37 18 30791939 30791939 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr18:30791939C>A uc002kxn.2 - 19 2301 c.2159G>T c.(2158-2160)TGT>TTT p.C720F C18orf34_uc010dme.1_Missense_Mutation_p.C234F|C18orf34_uc010xbr.1_Missense_Mutation_p.C720F|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.C682F|C18orf34_uc002kxp.2_Missense_Mutation_p.C720F NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 720 ovary(1) 1 TCTCTCTTCACAGTCTTTTTT 0.333 NA 7 13 1.26484e-09 1.72553e-09 0.00308 1 0 SETBP1 26040 broad.mit.edu 37 18 42281594 42281594 + Nonsense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr18:42281594G>T uc010dni.2 + 2 579 c.283G>T c.(283-285)GAG>TAG p.E95* SETBP1_uc002lay.2_Nonsense_Mutation_p.E95* NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 95 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) TTCTATCAAGGAGGCAAACTT 0.478 NA Schinzel-Giedion_syndrome 25 40 5.45727e-16 8.60547e-16 0.008361 1 0 SLC14A2 8170 broad.mit.edu 37 18 43204627 43204627 + Translation_Start_Site SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr18:43204627G>T uc010dnj.2 + 3 319 c.-2G>T c.(-4-0)AAGGA>AATGA SLC14A2_uc002lbb.2_Translation_Start_Site|SLC14A2_uc002lbe.2_Translation_Start_Site NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GTGACCCGAAGGAATGTCTGA 0.577 NA 19 24 4.76136e-26 8.31979e-26 0.00278 1 0 DYM 54808 broad.mit.edu 37 18 46812949 46812949 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr18:46812949G>T uc002ldi.1 - 9 1166 c.801C>A c.(799-801)GGC>GGA p.G267G DYM_uc010xdf.1_Silent_p.G77G|DYM_uc002ldj.3_Silent_p.G89G NM_017653 NP_060123 Q7RTS9 DYM_HUMAN dymeclin 267 Golgi apparatus 0 CCGCTTTGCTGCCCACACCAC 0.537 NA 7 17 0.000157383 0.000177026 0.00308 1 0 TCF4 6925 broad.mit.edu 37 18 52896169 52896169 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr18:52896169C>A uc002lfz.2 - 18 2388 c.1776G>T c.(1774-1776)CAG>CAT p.Q592H TCF4_uc002lfw.3_Missense_Mutation_p.Q436H|TCF4_uc010xdu.1_Missense_Mutation_p.Q462H|TCF4_uc010xdv.1_Missense_Mutation_p.Q462H|TCF4_uc002lfx.2_Missense_Mutation_p.Q525H|TCF4_uc010xdw.1_Missense_Mutation_p.Q462H|TCF4_uc002lfy.2_Missense_Mutation_p.Q550H|TCF4_uc010xdx.1_Missense_Mutation_p.Q568H|TCF4_uc010dph.1_Missense_Mutation_p.Q596H|TCF4_uc010xdy.1_Missense_Mutation_p.Q572H|TCF4_uc002lga.2_Missense_Mutation_p.Q698H|TCF4_uc002lgb.1_Missense_Mutation_p.Q432H|TCF4_uc010dpi.2_Missense_Mutation_p.Q602H|TCF4_uc002lfv.2_Missense_Mutation_p.Q375H NM_003199 NP_003190 P15884 ITF2_HUMAN transcription factor 4 isoform b 592 Helix-loop-helix motif. positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding ovary(1)|lung(1) 2 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) TGAGGTGGAGCTGCACCATGC 0.612 NA 23 27 4.7796e-09 6.37996e-09 0.004656 1 0 CCBE1 147372 broad.mit.edu 37 18 57106909 57106909 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr18:57106909C>T uc002lib.2 - 8 985 c.915G>A c.(913-915)GTG>GTA p.V305V CCBE1_uc010dpq.2_Intron|CCBE1_uc002lia.2_Silent_p.V158V NM_133459 NP_597716 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 305 Collagen-like 2. lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding skin(2)|ovary(1) 3 Colorectal(73;0.175) AGATACTGACCACAGGGCCCC 0.542 NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524) NA 20 60 0 0 0.002299 0 0 DSEL 92126 broad.mit.edu 37 18 65178663 65178663 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr18:65178663C>A uc002lke.1 - 2 4437 c.3213G>T c.(3211-3213)TTG>TTT p.L1071F NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 1061 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) CTATTTTAAACAATTTTGCTA 0.333 NA 10 17 2.17888e-05 2.52532e-05 0.006214 1 0 ZNF236 7776 broad.mit.edu 37 18 74610973 74610973 + Splice_Site SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr18:74610973A>G uc002lmi.2 + 11 1883 c.1685_splice c.e11-2 p.G562_splice ZNF236_uc002lmj.2_Splice_Site NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CATTTTTATTAGGAGTTAGAC 0.323 NA 14 16 0 0 0.003163 0 0 FZR1 51343 broad.mit.edu 37 19 3527758 3527758 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:3527758G>T uc010dtk.2 + 6 634 c.600G>T c.(598-600)GTG>GTT p.V200V FZR1_uc002lxt.2_Silent_p.V200V|FZR1_uc002lxv.2_Intron NM_001136198 NP_001129670 Q9UM11 FZR_HUMAN Fzr1 protein isoform 1 200 WD 1. activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding lung(1)|kidney(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) CCCTCAATGTGCTCAGCGTGG 0.632 NA 10 18 2.80697e-09 3.77735e-09 0.000978 1 0 PIP5K1C 23396 broad.mit.edu 37 19 3642905 3642905 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:3642905C>G uc002lyj.1 - 14 1739 c.1682G>C c.(1681-1683)AGG>ACG p.R561T PIP5K1C_uc010xhq.1_Missense_Mutation_p.R561T|PIP5K1C_uc010xhr.1_Missense_Mutation_p.R561T NM_012398 NP_036530 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 561 axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding stomach(2)|skin(2) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) TGGGTCTCACCTGCCATCCTG 0.542 Esophageal Squamous(135;99 1744 12852 27186 39851) NA 19 42 0 0 0.003954 0 0 ZNRF4 148066 broad.mit.edu 37 19 5455761 5455761 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:5455761C>A uc002mca.3 + 1 336 c.259C>A c.(259-261)CTG>ATG p.L87M NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 precursor 87 Extracellular (Potential). integral to membrane zinc ion binding large_intestine(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) CAAAGCCTTGCTGGTCTTGTC 0.672 NA 17 38 2.48551e-13 3.722e-13 0.00499 1 0 EVI5L 115704 broad.mit.edu 37 19 7916418 7916418 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:7916418C>T uc002min.2 + 7 1006 c.852C>T c.(850-852)TTC>TTT p.F284F EVI5L_uc010xjz.1_Silent_p.F284F|EVI5L_uc002mio.1_Silent_p.F15F NM_145245 NP_660288 Q96CN4 EVI5L_HUMAN ecotropic viral integration site 5-like isoform 284 Rab-GAP TBC. intracellular protein binding|Rab GTPase activator activity ovary(1) 1 TGACCACCTTCCCACTCCCCG 0.587 NA 9 75 0 0 0.001855 0 0 MUC16 94025 broad.mit.edu 37 19 8982316 8982316 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:8982316C>A uc002mkp.2 - 70 42163 c.41959G>T c.(41959-41961)GGT>TGT p.G13987C MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.G804C|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 14012 Extracellular (Potential).|SEA 13. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTCTCAGCACCGTTCTTCACA 0.468 NA 16 30 3.62473e-10 5.0186e-10 0.001882 1 0 MUC16 94025 broad.mit.edu 37 19 9060335 9060335 + Silent SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:9060335T>A uc002mkp.2 - 3 27315 c.27111A>T c.(27109-27111)ACA>ACT p.T9037T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9039 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ACATGACTTGTGTCATGGAGT 0.527 NA 14 22 0 0 0.004007 0 0 MUC16 94025 broad.mit.edu 37 19 9076225 9076225 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:9076225C>G uc002mkp.2 - 3 11425 c.11221G>C c.(11221-11223)GGG>CGG p.G3741R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3742 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGAGATCTCCCAGTGTCCCAG 0.507 NA 24 44 0 0 0.00632 0 0 ZNF563 147837 broad.mit.edu 37 19 12432132 12432132 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:12432132C>T uc002mtp.2 - 3 383 c.145G>A c.(145-147)GAA>AAA p.E49K ZNF563_uc002mtq.2_Missense_Mutation_p.E49K NM_145276 NP_660319 Q8TA94 ZN563_HUMAN zinc finger protein 563 49 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTATTCTGTTCTTCCCATATC 0.313 GBM(39;623 795 5132 29510 31476) NA 7 15 0 0 0.00308 0 0 ZNF490 57474 broad.mit.edu 37 19 12691789 12691789 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:12691789C>T uc002mtz.2 - 5 1229 c.1100G>A c.(1099-1101)TGT>TAT p.C367Y NM_020714 NP_065765 Q9ULM2 ZN490_HUMAN zinc finger protein 490 367 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGCTTCCCCACATTTCTTACA 0.413 NA 18 23 0 0 0.001882 0 0 OR7A5 26659 broad.mit.edu 37 19 14938234 14938234 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:14938234C>A uc002mzw.2 - 1 1043 c.820G>T c.(820-822)GCC>TCC p.A274S OR7A5_uc010xoa.1_Missense_Mutation_p.A274S NM_017506 NP_059976 Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, 274 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2) 2 ATCACTGAGGCTGTTGCACTT 0.473 NA 29 28 8.53417e-09 1.13004e-08 0.002836 1 0 UNC13A 23025 broad.mit.edu 37 19 17720884 17720884 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:17720884C>G uc002nhd.2 - 42 4940 c.4940G>C c.(4939-4941)TGG>TCG p.W1647S NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 1559 C2 3. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 AGAAGTCTGCCACTTGAGGTC 0.502 NA 54 66 0 0 0.00361 0 0 COMP 1311 broad.mit.edu 37 19 18896308 18896308 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:18896308C>A uc002nke.2 - 15 1753 c.1717G>T c.(1717-1719)GGT>TGT p.G573C COMP_uc002nkd.2_Missense_Mutation_p.G540C|COMP_uc010xqj.1_Missense_Mutation_p.G520C NM_000095 NP_000086 P49747 COMP_HUMAN cartilage oligomeric matrix protein precursor 573 Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal. anti-apoptosis|apoptosis|cell adhesion|limb development extracellular space|proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding 0 CGCTTCTCACCCACAGCCAGG 0.522 NA 45 53 1.72845e-40 3.16917e-40 0.00361 1 0 TM6SF2 53345 broad.mit.edu 37 19 19378887 19378887 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:19378887C>A uc002nmd.1 - 7 669 c.619G>T c.(619-621)GAA>TAA p.E207* HAPLN4_uc002nmc.2_5'UTR NM_001001524 NP_001001524 Q9BZW4 TM6S2_HUMAN transmembrane 6 superfamily member 2 207 integral to membrane 0 Epithelial(12;0.0151) TTTCTTTGTTCCTCTTGCACC 0.522 NA 17 7 1.99824e-07 2.51812e-07 0.00499 1 0 SF4 57794 broad.mit.edu 37 19 19414190 19414190 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:19414190C>G uc002nmh.2 - 6 732 c.730G>C c.(730-732)GAA>CAA p.E244Q SF4_uc002nmf.2_5'Flank|SF4_uc002nmg.2_5'UTR|SF4_uc002nmi.2_Missense_Mutation_p.E34Q|SF4_uc002nmj.2_Missense_Mutation_p.E34Q|SF4_uc010xqr.1_RNA|SF4_uc010xqs.1_RNA NM_172231 NP_757386 Q8IWZ8 SUGP1_HUMAN splicing factor 4 244 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding 0 TTCTGTGCTTCCTTTCTTATC 0.527 NA 28 48 0 0 0.002836 0 0 ZNF253 56242 broad.mit.edu 37 19 19989306 19989306 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:19989306G>T uc002noj.2 + 2 112 c.20G>T c.(19-21)AGA>ATA p.R7I ZNF253_uc002nok.2_Intron|ZNF253_uc002nol.2_Intron NM_021047 NP_066385 O75346 ZN253_HUMAN zinc finger protein 253 7 KRAB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTGCAATTTAGAGATGTGGCC 0.393 NA 39 57 5.82388e-19 9.55863e-19 0.00361 1 0 ZNF98 148198 broad.mit.edu 37 19 22574545 22574545 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:22574545C>T uc002nqt.2 - 4 1614 c.1492G>A c.(1492-1494)GCT>ACT p.A498T NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN zinc finger protein 98 498 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) TGGTTAAAAGCTTTGCCACAT 0.403 NA 24 126 0 0 0.003271 0 0 ZNF492 57615 broad.mit.edu 37 19 22847456 22847456 + Nonsense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:22847456A>T uc002nqw.3 + 4 1229 c.985A>T c.(985-987)AGA>TGA p.R329* NM_020855 NP_065906 Q9P255 ZN492_HUMAN zinc finger protein 492 329 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) TACACATAAGAGAATTCATTC 0.378 NA 8 7 0 0 0.006214 0 0 C19orf2 8725 broad.mit.edu 37 19 30505918 30505918 + Missense_Mutation SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:30505918A>G uc002nsr.2 + 11 1580 c.1550A>G c.(1549-1551)GAA>GGA p.E517G C19orf2_uc002nsq.2_Intron|C19orf2_uc002nss.2_Missense_Mutation_p.E477G|C19orf2_uc002nst.2_Missense_Mutation_p.E441G NM_003796 NP_003787 O94763 RMP_HUMAN RPB5-mediating protein isoform a 517 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding ovary(1)|kidney(1) 2 Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) Hepatocellular(1079;0.137)|Renal(1328;0.228) STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115) STAD - Stomach adenocarcinoma(1328;0.18) GAAGCATCTGAAGAAACTGGA 0.433 Melanoma(75;661 1306 1472 28422 37948) NA 24 49 0 0 0.003954 0 0 ZNF536 9745 broad.mit.edu 37 19 30935373 30935373 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:30935373T>A uc002nsu.1 + 2 1042 c.904T>A c.(904-906)TGC>AGC p.C302S ZNF536_uc010edd.1_Missense_Mutation_p.C302S NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 302 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GCCCTACAAGTGCACGTTGTG 0.652 NA 22 86 0 0 0.003954 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768675 31768675 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:31768675C>T uc002nsy.3 - 2 2089 c.2024G>A c.(2023-2025)CGG>CAG p.R675Q NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 675 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) GCACCCATCCCGCGGGGGGCT 0.652 NA 25 34 0 0 0.00632 0 0 ZNF30 90075 broad.mit.edu 37 19 35434349 35434349 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:35434349G>T uc010edp.1 + 5 857 c.479G>T c.(478-480)GGA>GTA p.G160V ZNF30_uc002nxf.2_Missense_Mutation_p.G79V|ZNF30_uc010edq.1_Missense_Mutation_p.G161V|ZNF30_uc010edr.1_Missense_Mutation_p.G161V NM_194325 NP_919306 P17039 ZNF30_HUMAN zinc finger protein 30 isoform b 160 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GBM - Glioblastoma multiforme(1328;0.0265) TTTAGTAATGGACATCAACTC 0.383 NA 20 20 8.10497e-08 1.03987e-07 0.010504 1 0 CD22 933 broad.mit.edu 37 19 35832310 35832310 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:35832310G>T uc010edt.2 + 8 1649 c.1572G>T c.(1570-1572)TCG>TCT p.S524S CD22_uc010xst.1_Silent_p.S352S|CD22_uc010edu.2_Silent_p.S436S|CD22_uc010edv.2_Silent_p.S524S|CD22_uc002nzb.3_Silent_p.S347S|CD22_uc010edx.2_RNA NM_001771 NP_001762 P20273 CD22_HUMAN CD22 molecule precursor 524 Extracellular (Potential).|Ig-like C2-type 5. cell adhesion protein binding|sugar binding ovary(5)|lung(3)|breast(1) 9 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) CTGGAAACTCGGTCAGCCTCC 0.552 Ovarian(42;1009 1133 23674 26041) NA 26 33 7.01153e-11 9.89198e-11 0.007291 1 0 TMEM149 79713 broad.mit.edu 37 19 36231335 36231335 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:36231335G>A uc002obc.2 - 3 389 c.288C>T c.(286-288)GCC>GCT p.A96A TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Silent_p.A96A|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Silent_p.A176A NM_024660 NP_078936 Q9H665 IGFR1_HUMAN transmembrane protein 149 precursor 96 Extracellular (Potential). integral to membrane|plasma membrane protein binding|receptor activity 0 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TAGGGGTCACGGCTCCGCCGC 0.697 NA 6 25 0 0 0.001168 0 0 ZNF570 148268 broad.mit.edu 37 19 37975292 37975292 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:37975292C>T uc002ogk.1 + 5 1297 c.768C>T c.(766-768)AGC>AGT p.S256S ZNF570_uc010efl.1_Silent_p.S312S|ZNF570_uc010xtr.1_Silent_p.S53S NM_144694 NP_653295 Q96NI8 ZN570_HUMAN zinc finger protein 570 256 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AAGCCTTCAGCCAGAGATCAA 0.398 NA 30 101 0 0 0.002096 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38572907 38572907 + Silent SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:38572907G>C uc002ohk.2 + 3 1211 c.702G>C c.(700-702)GGG>GGC p.G234G NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 234 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) ACGCCCGAGGGTGCCAGGCCC 0.697 NA 48 49 0 0 0.00361 0 0 RYR1 6261 broad.mit.edu 37 19 38969098 38969098 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:38969098T>A uc002oit.2 + 31 4608 c.4478T>A c.(4477-4479)ATG>AAG p.M1493K RYR1_uc002oiu.2_Missense_Mutation_p.M1493K NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1493 Cytoplasmic.|B30.2/SPRY 3.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AACTGCTACATGGTGTGGGGC 0.602 NA 15 46 0 0 0.00499 0 0 MAP4K1 11184 broad.mit.edu 37 19 39104562 39104562 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:39104562G>T uc002oix.1 - 8 599 c.491C>A c.(490-492)GCT>GAT p.A164D MAP4K1_uc002oiy.1_Missense_Mutation_p.A164D|MAP4K1_uc010xug.1_5'UTR NM_007181 NP_009112 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase 164 Protein kinase. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity skin(4)|lung(3)|ovary(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) GGCCAGTGTAGCCCCAATCTG 0.627 NA 3 20 0.004672 0.00493414 0.004672 1 0 SPTBN4 57731 broad.mit.edu 37 19 41009848 41009848 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:41009848G>A uc002ony.2 + 12 1560 c.1474G>A c.(1474-1476)GCC>ACC p.A492T SPTBN4_uc002onx.2_Missense_Mutation_p.A492T|SPTBN4_uc002onz.2_Missense_Mutation_p.A492T NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 492 Spectrin 3. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGCGGAGCTGGCCCAGGCATT 0.652 NA 19 37 0 0 0.001882 0 0 CEACAM6 4680 broad.mit.edu 37 19 42270096 42270096 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:42270096G>T uc002orm.2 + 5 1113 c.964G>T c.(964-966)GCT>TCT p.A322S NM_002483 NP_002474 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion 322 cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) ACAAGGAAGTGCTCCTGTCCT 0.507 NA 22 98 2.00529e-23 3.43929e-23 0.00333 1 0 LYPD4 147719 broad.mit.edu 37 19 42341304 42341304 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:42341304C>T uc002orp.1 - 5 1638 c.654G>A c.(652-654)GAG>GAA p.E218E LYPD4_uc002orq.1_Silent_p.E183E NM_173506 NP_775777 Q6UWN0 LYPD4_HUMAN LY6/PLAUR domain containing 4 precursor 218 UPAR/Ly6. anchored to membrane|plasma membrane ovary(1) 1 TCTGAGACTTCTCTAAGATGT 0.498 NA 29 110 0 0 0.009535 0 0 PSG11 5680 broad.mit.edu 37 19 43519460 43519460 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:43519460C>T uc002ovm.1 - 4 879 c.772G>A c.(772-774)GAC>AAC p.D258N PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG11_uc002ovn.1_Missense_Mutation_p.D264N|PSG11_uc002ovo.1_Missense_Mutation_p.D136N|PSG11_uc002ovp.1_Missense_Mutation_p.D136N NM_002785 NP_002776 Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 258 Ig-like C2-type 2. female pregnancy extracellular region 0 Prostate(69;0.00682) CAGGACAAGTCGAGGTTCTCT 0.448 NA 40 138 0 0 0.007835 0 0 PSG11 5680 broad.mit.edu 37 19 43519523 43519523 + Splice_Site SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:43519523C>T uc002ovm.1 - 4 817 c.710_splice c.e4-1 p.H237_splice PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG11_uc002ovn.1_Splice_Site_p.H243_splice|PSG11_uc002ovo.1_Splice_Site_p.H115_splice|PSG11_uc002ovp.1_Splice_Site_p.H115_splice NM_002785 NP_002776 Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 female pregnancy extracellular region 0 Prostate(69;0.00682) TCTGGACCATCTGGAGGAAAG 0.502 NA 33 129 0 0 0.009718 0 0 PSG4 5672 broad.mit.edu 37 19 43708260 43708260 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:43708260C>A uc002ovy.2 - 2 310 c.208G>T c.(208-210)GGG>TGG p.G70W PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Missense_Mutation_p.G70W|PSG4_uc002ovz.2_Missense_Mutation_p.G70W NM_002780 NP_002771 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 isoform 70 Ig-like V-type. defense response|female pregnancy extracellular region ovary(1) 1 Prostate(69;0.00682) GTCATTTGCCCTTTGTACCAA 0.423 NA 109 113 1.51877e-38 2.77105e-38 0.00361 1 0 ZNF230 7773 broad.mit.edu 37 19 44514466 44514466 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:44514466G>T uc002oyb.1 + 5 526 c.275G>T c.(274-276)TGC>TTC p.C92F NM_006300 NP_006291 Q9UIE0 ZN230_HUMAN zinc finger protein 230 92 KRNB. C -> V (in Ref. 1; AAB62180). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) GACTGCCCTTGCCAGCAAATC 0.453 GBM(175;914 2069 22996 47111 52600) NA 16 54 1.01871e-10 1.42505e-10 0.008871 1 0 ZNF223 7766 broad.mit.edu 37 19 44570392 44570392 + Silent SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:44570392A>G uc002oyf.1 + 5 664 c.411A>G c.(409-411)GGA>GGG p.G137G ZNF284_uc010ejd.2_RNA NM_013361 NP_037493 Q9UK11 ZN223_HUMAN zinc finger protein 223 137 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0352) TTGAGGAAGGACTATCTATAA 0.438 NA 22 66 0 0 0.001882 0 0 ZFP112 7771 broad.mit.edu 37 19 44833074 44833074 + Silent SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:44833074T>A uc010ejj.2 - 5 1367 c.1254A>T c.(1252-1254)ATA>ATT p.I418I ZFP112_uc002ozc.3_Silent_p.I412I|ZFP112_uc010xwy.1_Silent_p.I435I|ZFP112_uc010xwz.1_Silent_p.I417I NM_001083335 NP_001076804 Q9UJU3 ZF112_HUMAN zinc finger protein 228 isoform 1 418 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2) 5 TTCCATACTCTATATCTGTGT 0.348 Melanoma(53;975 1202 7512 15993 27273) NA 20 65 0 0 0.002299 0 0 ZNF180 7733 broad.mit.edu 37 19 44980970 44980970 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:44980970C>A uc002ozf.3 - 5 2010 c.1728G>T c.(1726-1728)CCG>CCT p.P576P ZNF180_uc002ozh.3_Silent_p.P233P|ZNF180_uc002ozi.3_Silent_p.P549P|ZNF180_uc002ozg.3_Silent_p.P575P|ZNF180_uc010ejm.2_Silent_p.P551P NM_013256 NP_037388 Q9UJW8 ZN180_HUMAN zinc finger protein 180 576 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P576L(1) ovary(2) 2 Prostate(69;0.0435) TACATTCATACGGTTTTTCCC 0.403 Esophageal Squamous(180;1353 2003 32862 46574 49854) NA 49 70 2.48909e-17 4.00571e-17 0.00361 1 0 APOC1 341 broad.mit.edu 37 19 45419582 45419583 + Splice_Site DNP GG GG TT TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:45419582_45419583GG>TT uc002pac.1 + 4 446 c.194_splice c.e4+1 p.R65_splice APOC1_uc002pad.1_Splice_Site_p.R65_splice|APOC1_uc002pae.1_Splice_Site_p.R65_splice|APOC1_uc002paf.1_Splice_Site NM_001645 NP_001636 P02654 APOC1_HUMAN apolipoprotein C-I precursor cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity 0 Lung NSC(12;0.0018)|all_lung(12;0.00481) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174) GCCAAGATGCGGTTAGAACCCT 0.51 NA 21 70 0 0 0.004672 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45885899 45885900 + Missense_Mutation DNP GG GG AC TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:45885899_45885900GG>AC uc002pbn.2 - 12 2410_2411 c.2333_2334CC>GT c.(2332-2334)TCC>TGT p.S778C PPP1R13L_uc002pbm.2_Missense_Mutation_p.S357C|PPP1R13L_uc002pbo.2_Missense_Mutation_p.S778C NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 778 SH3. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding skin(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) CCTCGCGGAAGGACAGCTCGTC 0.683 Pancreas(61;1447 1663 31419 50578) NA 22 53 0 0 0.004672 0 0 GPR4 2828 broad.mit.edu 37 19 46094935 46094935 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:46094935G>C uc002pcm.2 - 2 1135 c.190C>G c.(190-192)CTG>GTG p.L64V OPA3_uc010xxk.1_Intron NM_005282 NP_005273 P46093 GPR4_HUMAN G protein-coupled receptor 4 64 Helical; Name=2; (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) ATGTACAGCAGGTCGGCGATG 0.632 Esophageal Squamous(117;181 1612 1673 14956 42937) NA 20 97 0 0 0.001882 0 0 HIF3A 64344 broad.mit.edu 37 19 46832479 46832479 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:46832479G>T uc002peh.2 + 12 1485 c.1456G>T c.(1456-1458)GAT>TAT p.D486Y HIF3A_uc002peg.3_Missense_Mutation_p.D486Y|HIF3A_uc002pei.3_Missense_Mutation_p.D430Y|HIF3A_uc002pej.1_Intron|HIF3A_uc002pek.2_Missense_Mutation_p.D430Y|HIF3A_uc010xxy.1_Missense_Mutation_p.D417Y|HIF3A_uc002pel.2_Missense_Mutation_p.D484Y|HIF3A_uc010xxz.1_Missense_Mutation_p.D435Y NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 486 NTAD.|ODD. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) TGATGCTCTGGATTTGGAGAT 0.408 NA 31 93 4.4194e-11 6.26468e-11 0.002836 1 0 CALM3 808 broad.mit.edu 37 19 47112165 47112165 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:47112165G>A uc002pew.2 + 5 528 c.348G>A c.(346-348)AAG>AAA p.K116K CALM3_uc010ekp.2_Silent_p.K80K|CALM3_uc010xyc.1_Silent_p.K116K NM_005184 NP_005175 P62158 CALM_HUMAN calmodulin 3 116 EF-hand 3. activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding ovary(1) 1 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341) Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069) TGGGGGAGAAGCTGACCGATG 0.552 NA 19 31 0 0 0.002299 0 0 LMTK3 114783 broad.mit.edu 37 19 49005745 49005745 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:49005745C>G uc002pjk.2 - 8 826 c.826G>C c.(826-828)GGC>CGC p.G276R NM_001080434 NP_001073903 lemur tyrosine kinase 3 lung(5)|central_nervous_system(1) 6 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) ATCTCCAGGCCCATCCTCTGC 0.711 NA 7 60 0 0 0.004482 0 0 FUT1 2523 broad.mit.edu 37 19 49253552 49253552 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:49253552G>A uc002pkk.2 - 4 1962 c.987C>T c.(985-987)ACC>ACT p.T329T NM_000148 NP_000139 P19526 FUT1_HUMAN fucosyltransferase 1 329 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to plasma membrane|membrane fraction galactoside 2-alpha-L-fucosyltransferase activity ovary(1) 1 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222) AGTCTGGCAGGGTGAAGTTGG 0.567 NA 17 7 0 0 0.008871 0 0 TBC1D17 79735 broad.mit.edu 37 19 50391574 50391574 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:50391574C>T uc002pqo.2 + 16 1898 c.1746C>T c.(1744-1746)CCC>CCT p.P582P TBC1D17_uc010ybg.1_Silent_p.P549P|TBC1D17_uc002pqp.2_Silent_p.P233P|TBC1D17_uc002pqr.2_Silent_p.P233P|TBC1D17_uc002pqs.2_RNA|IL4I1_uc002pqv.1_3'UTR|IL4I1_uc010eno.1_3'UTR|IL4I1_uc002pqw.1_3'UTR NM_024682 NP_078958 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 582 intracellular Rab GTPase activator activity 0 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) CCGCCTGCCCCGTGAGTCCCC 0.697 NA 6 7 0 0 0.001168 0 0 ZNF473 25888 broad.mit.edu 37 19 50542426 50542426 + Silent SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:50542426G>C uc002prn.2 + 3 255 c.18G>C c.(16-18)GTG>GTC p.V6V ZNF473_uc002prm.2_Silent_p.V6V|ZNF473_uc010ybo.1_5'UTR NM_001006656 NP_001006657 Q8WTR7 ZN473_HUMAN zinc finger protein 473 6 KRAB. histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) AGGAATTTGTGACCCTCAAGG 0.577 NA 85 53 0 0 0.00361 0 0 NAPSA 9476 broad.mit.edu 37 19 50868854 50868854 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:50868854G>A uc002prx.2 - 1 78 c.25C>T c.(25-27)CCC>TCC p.P9S NR1H2_uc002prv.3_Intron NM_004851 NP_004842 O96009 NAPSA_HUMAN napsin A preproprotein 9 proteolysis extracellular region aspartic-type endopeptidase activity 0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) agcagcaggggttgcagcagc 0.468 NA 12 8 0 0 0.000978 0 0 SYT3 84258 broad.mit.edu 37 19 51140624 51140624 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:51140624G>C uc002pst.2 - 1 679 c.45C>G c.(43-45)ATC>ATG p.I15M SYT3_uc002psv.2_Missense_Mutation_p.I15M|SYT3_uc010ycd.1_Missense_Mutation_p.I15M NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN synaptotagmin III 15 Vesicular (Potential). cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|breast(1) 3 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) CCGAGACCAGGATGAGTGCCC 0.622 NA 28 26 0 0 0.007291 0 0 KLK4 9622 broad.mit.edu 37 19 51412616 51412616 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:51412616G>A uc002pua.1 - 2 116 c.116C>T c.(115-117)CCG>CTG p.P39L KLK4_uc002pty.1_5'UTR|KLK4_uc002ptz.1_RNA|KLK4_uc002pub.1_5'UTR|KLK4_uc002puc.1_RNA|KLK4_uc010eoi.1_5'UTR|KLK4_uc002pud.1_5'Flank NM_004917 NP_004908 Q9Y5K2 KLK4_HUMAN kallikrein-related peptidase 4 preproprotein 39 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) CTGCGAGTGCGGGCTGCAGTC 0.637 NA 186 116 0 0 0.00361 0 0 CEACAM18 729767 broad.mit.edu 37 19 51986392 51986392 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:51986392C>A uc002pwv.1 + 5 978 c.978C>A c.(976-978)TAC>TAA p.Y326* NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion 326 Ig-like C2-type. integral to membrane skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) ATCTCAAGTACCACTGGATCC 0.512 NA 85 52 1.01459e-35 1.84213e-35 0.00361 1 0 SIGLEC12 89858 broad.mit.edu 37 19 52000636 52000636 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:52000636A>T uc002pwx.1 - 6 1525 c.1469T>A c.(1468-1470)CTG>CAG p.L490Q SIGLEC12_uc002pww.1_Missense_Mutation_p.L372Q|SIGLEC12_uc010eoy.1_Missense_Mutation_p.L217Q NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN sialic acid binding immunoglobulin-like 490 Helical; (Potential). cell adhesion integral to membrane sugar binding ovary(3)|skin(2) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) CAGGAAGACCAGGGCTGTGGC 0.557 NA 19 53 0 0 0.002852 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52130768 52130768 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:52130768C>A uc002pxe.2 - 6 1368 c.1229G>T c.(1228-1230)TGC>TTC p.C410F NM_003830 NP_003821 O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 precursor 410 Extracellular (Potential). cell adhesion integral to membrane sugar binding skin(2)|breast(1)|central_nervous_system(1) 4 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) CCAGGCCTTGCAGCTGACTTT 0.642 NA 57 49 2.6711e-34 4.81446e-34 0.00361 1 0 ZNF665 79788 broad.mit.edu 37 19 53668496 53668496 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:53668496T>A uc010eqm.1 - 4 1347 c.1247A>T c.(1246-1248)CAC>CTC p.H416L NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN zinc finger protein 665 351 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0196) ATTTGCTAAGTGTGAATACTG 0.403 NA 38 23 0 0 0.007835 0 0 SYT5 6861 broad.mit.edu 37 19 55686584 55686584 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:55686584G>T uc002qjm.1 - 5 1724 c.664C>A c.(664-666)CCA>ACA p.P222T SYT5_uc002qjp.2_Missense_Mutation_p.P219T|SYT5_uc002qjn.1_Missense_Mutation_p.P222T|SYT5_uc002qjo.1_Missense_Mutation_p.P222T NM_003180 NP_003171 O00445 SYT5_HUMAN synaptotagmin V 222 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) GCCTGCACTGGCCGCCCCAGG 0.716 NA 12 6 9.31168e-06 1.10067e-05 0.001855 1 0 PTPRH 5794 broad.mit.edu 37 19 55693137 55693137 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:55693137G>T uc002qjq.2 - 20 3406 c.3333C>A c.(3331-3333)CAC>CAA p.H1111Q PTPRH_uc010esv.2_Missense_Mutation_p.H933Q|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 1111 Cytoplasmic (Potential). apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) CCTCCAACTTGTGGGCCTGGA 0.607 NA 75 48 4.38691e-48 8.13383e-48 0.00361 1 0 RPL28 6158 broad.mit.edu 37 19 55899329 55899329 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:55899329G>T uc002qkv.2 + 4 279 c.237G>T c.(235-237)CGG>CGT p.R79R RPL28_uc010yga.1_Silent_p.R79R|RPL28_uc010ygb.1_Silent_p.R79R|RPL28_uc002qkw.1_3'UTR NM_000991 NP_000982 P46779 RL28_HUMAN ribosomal protein L28 isoform 2 79 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome 0 Breast(117;0.191) Renal(1328;0.245) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0443) CCTATGTGCGGACCACCATCA 0.612 NA 77 61 1.67174e-50 3.11514e-50 0.00361 1 0 NLRP11 204801 broad.mit.edu 37 19 56320389 56320389 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:56320389C>T uc010ygf.1 - 5 2298 c.1587G>A c.(1585-1587)ATG>ATA p.M529I NLRP11_uc002qlz.2_Missense_Mutation_p.M430I|NLRP11_uc002qmb.2_Missense_Mutation_p.M430I|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 529 ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CCAAATGTTTCATGTATCCCA 0.438 NA 71 55 0 0 0.00361 0 0 NLRP8 126205 broad.mit.edu 37 19 56467463 56467463 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:56467463C>A uc002qmh.2 + 3 2110 c.2039C>A c.(2038-2040)TCT>TAT p.S680Y NLRP8_uc010etg.2_Missense_Mutation_p.S680Y NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 680 cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CATCCTGGCTCTGAGTAAGTG 0.547 NA 36 32 1.59361e-14 2.43295e-14 0.006999 1 0 NLRP5 126206 broad.mit.edu 37 19 56538657 56538657 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:56538657G>T uc002qmj.2 + 7 1058 c.1058G>T c.(1057-1059)CGA>CTA p.R353L NLRP5_uc002qmi.2_Missense_Mutation_p.R334L NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 353 NACHT. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) ATCATGTCCCGACCAGAAAGG 0.547 NA 6 12 5.9392e-07 7.35353e-07 0.001168 1 0 ZSCAN5B 342933 broad.mit.edu 37 19 56704301 56704301 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:56704301C>A uc010ygh.1 - 1 121 c.121G>T c.(121-123)GAG>TAG p.E41* NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 41 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 TGCCAAGTCTCAGGGTTCCTG 0.572 NA 14 6 4.36969e-10 6.03318e-10 0.001855 1 0 ZNF583 147949 broad.mit.edu 37 19 56935118 56935118 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:56935118G>T uc010ygl.1 + 5 1256 c.1091G>T c.(1090-1092)CGT>CTT p.R364L ZNF583_uc002qnc.2_Missense_Mutation_p.R364L|ZNF583_uc010ygm.1_Missense_Mutation_p.R364L NM_001159860 NP_001153332 Q96ND8 ZN583_HUMAN zinc finger protein 583 364 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0564) TTTAGCCATCGTGGATACCTA 0.423 NA 47 30 1.83081e-24 3.16559e-24 0.00361 1 0 PEG3 5178 broad.mit.edu 37 19 57327159 57327159 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:57327159C>A uc002qnu.2 - 7 3002 c.2651G>T c.(2650-2652)GGG>GTG p.G884V ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G855V|PEG3_uc002qnv.2_Missense_Mutation_p.G884V|PEG3_uc002qnw.2_Missense_Mutation_p.G760V|PEG3_uc002qnx.2_Missense_Mutation_p.G758V|PEG3_uc010etr.2_Missense_Mutation_p.G884V NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 884 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CTTACTGCCCCCTTCACAAGG 0.443 NA 37 27 9.62906e-15 1.47612e-14 0.00623 1 0 ZNF304 57343 broad.mit.edu 37 19 57865133 57865133 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:57865133G>T uc010ygw.1 + 2 462 c.74G>T c.(73-75)CGG>CTG p.R25L ZNF304_uc010etw.2_Missense_Mutation_p.R25L|ZNF304_uc010etx.2_5'UTR NM_020657 NP_065708 Q9HCX3 ZN304_HUMAN zinc finger protein 304 25 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) TACTTCTCTCGGGAGGAGTGG 0.512 NA 42 49 1.48734e-19 2.45468e-19 0.003214 1 0 TMEM18 129787 broad.mit.edu 37 2 675580 675580 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:675580C>A uc002qwl.2 - 2 202 c.108G>T c.(106-108)GCG>GCT p.A36A TMEM18_uc002qwk.2_RNA|uc002qwm.1_5'Flank NM_152834 NP_690047 Q96B42 TMM18_HUMAN transmembrane protein 18 36 Helical; (Potential). cell migration integral to membrane|nuclear membrane ovary(1) 1 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253) all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285) GCACGCAGAGCGCGTGGAAGG 0.577 NA 25 34 8.58068e-18 1.39296e-17 0.007291 1 0 TPO 7173 broad.mit.edu 37 2 1426896 1426896 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:1426896G>A uc002qww.2 + 3 265 c.174G>A c.(172-174)ATG>ATA p.M58I TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Missense_Mutation_p.M58I|TPO_uc002qwu.2_Missense_Mutation_p.M58I|TPO_uc002qwr.2_Missense_Mutation_p.M58I|TPO_uc002qwx.2_Missense_Mutation_p.M58I|TPO_uc010yio.1_Missense_Mutation_p.M58I|TPO_uc010yip.1_Missense_Mutation_p.M58I NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 58 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) ACGCCACGATGCAGAGGTGAG 0.582 NA 7 21 0 0 0.004482 0 0 KIDINS220 57498 broad.mit.edu 37 2 8870855 8870855 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:8870855G>C uc002qzc.2 - 30 5493 c.5311C>G c.(5311-5313)CTT>GTT p.L1771V KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.L1672V|KIDINS220_uc002qzb.2_Missense_Mutation_p.L625V NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate of 220 kDa 1771 Mediates interaction with SNTA1 (By similarity).|Cytoplasmic (Potential). activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TTTTCTCAAAGAATGCTTTCT 0.448 NA 10 28 0 0 0.008291 0 0 KCNF1 3754 broad.mit.edu 37 2 11053234 11053234 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:11053234G>T uc002rax.2 + 1 1172 c.682G>T c.(682-684)GCG>TCG p.A228S NM_002236 NP_002227 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, 228 Helical; Name=Segment S2; (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) CGTGGAGACGGCGTGCATTGG 0.627 NA 19 46 1.15919e-05 1.35939e-05 0.008871 1 0 TRIB2 28951 broad.mit.edu 37 2 12880753 12880753 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:12880753C>G uc002rbv.3 + 3 2301 c.865C>G c.(865-867)CTG>GTG p.L289V TRIB2_uc010yjp.1_Missense_Mutation_p.L153V NM_021643 NP_067675 Q92519 TRIB2_HUMAN tribbles homolog 2 289 Protein kinase. negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity stomach(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CCGAAGCATTCTGCGTCGGGA 0.532 NA 21 21 0 0 0.003954 0 0 NBAS 51594 broad.mit.edu 37 2 15644305 15644305 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:15644305T>A uc002rcc.1 - 11 944 c.918A>T c.(916-918)TTA>TTT p.L306F NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 306 ovary(2)|liver(1)|skin(1) 4 ACTTGACACTTAACATCCTTA 0.303 NA 18 54 0 0 0.010504 0 0 APOB 338 broad.mit.edu 37 2 21233628 21233628 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:21233628C>T uc002red.2 - 26 6240 c.6112G>A c.(6112-6114)GAT>AAT p.D2038N NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2038 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCTAAAGCATCAATGATATTG 0.408 NA 36 70 0 0 0.007835 0 0 UBXN2A 165324 broad.mit.edu 37 2 24222692 24222692 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:24222692G>C uc010exy.2 + 8 1203 c.735G>C c.(733-735)CAG>CAC p.Q245H UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.Q245H|UBXN2A_uc010ykj.1_Missense_Mutation_p.Q192H NM_181713 NP_859064 P68543 UBX2A_HUMAN UBX domain containing 4 245 UBX. 0 TCATCATTCAGAGACTCCAAA 0.418 NA 30 39 0 0 0.002445 0 0 MFSD2B 388931 broad.mit.edu 37 2 24239823 24239823 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:24239823C>G uc002reo.1 + 4 470 c.456C>G c.(454-456)TTC>TTG p.F152L MFSD2B_uc010exz.1_RNA NM_001080473 NP_001073942 A6NFX1 MFS2B_HUMAN major facilitator superfamily domain containing 152 Helical; (Potential). transport integral to membrane ovary(2) 2 ACTGCCTGTTCCAGGCCCTGG 0.647 NA 26 31 0 0 0.002445 0 0 ITSN2 50618 broad.mit.edu 37 2 24516556 24516556 + Splice_Site SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:24516556C>G uc002rfe.2 - 15 1981 c.1723_splice c.e15+1 p.D575_splice ITSN2_uc002rff.2_Splice_Site_p.D575_splice|ITSN2_uc002rfg.2_Splice_Site_p.D575_splice|ITSN2_uc010eyd.2_Splice_Site_p.D600_splice NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TAGAGACTTACCAGGTGTGTT 0.279 NA 5 34 0 0 0.000602 0 0 NCOA1 8648 broad.mit.edu 37 2 24933855 24933855 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:24933855C>T uc002rfk.2 + 12 2732 c.2474C>T c.(2473-2475)GCA>GTA p.A825V NCOA1_uc010eye.2_Missense_Mutation_p.A825V|NCOA1_uc002rfi.2_Missense_Mutation_p.A674V|NCOA1_uc002rfj.2_Missense_Mutation_p.A825V|NCOA1_uc002rfl.2_Missense_Mutation_p.A825V NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 825 Interaction with CREBBP. PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAGAAGGCAGCACAGTTGCCA 0.473 NA T PAX3 alveolar rhadomyosarcoma 20 60 0 0 0.010504 0 0 ADCY3 109 broad.mit.edu 37 2 25061491 25061491 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:25061491C>A uc002rfs.3 - 7 1555 c.1356G>T c.(1354-1356)GGG>GGT p.G452G ADCY3_uc002rfr.3_Missense_Mutation_p.E85D|ADCY3_uc010ykm.1_Silent_p.G452G NM_004036 NP_004027 O60266 ADCY3_HUMAN adenylate cyclase 3 452 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding breast(3)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) TGTGCACGCGCCTGGATTGCA 0.647 NA 44 76 5.2432e-18 8.53024e-18 0.00361 1 0 HADHA 3030 broad.mit.edu 37 2 26426983 26426983 + Missense_Mutation SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:26426983T>C uc002rgy.2 - 12 1298 c.1168A>G c.(1168-1170)AAA>GAA p.K390E HADHA_uc010yks.1_Missense_Mutation_p.K303E NM_000182 NP_000173 P40939 ECHA_HUMAN mitochondrial trifunctional protein, alpha 390 fatty acid beta-oxidation fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) NADH(DB00157) GTGGCATCTTTAAGTATAGTC 0.502 NA 162 264 0 0 0.00361 0 0 KCNK3 3777 broad.mit.edu 37 2 26915939 26915939 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:26915939G>T uc002rhn.2 + 1 359 c.196G>T c.(196-198)GTG>TTG p.V66L NM_002246 NP_002237 O14649 KCNK3_HUMAN potassium channel, subfamily K, member 3 66 synaptic transmission integral to plasma membrane ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGAGCGCGTCGTGCTGCGCCT 0.697 GBM(80;1457 1631 27100 45946) NA 12 16 3.07112e-06 3.69777e-06 0.000978 1 0 C2orf18 54978 broad.mit.edu 37 2 26997191 26997191 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:26997191G>T uc002rhp.1 + 2 226 c.150G>T c.(148-150)CAG>CAT p.Q50H C2orf18_uc002rhq.1_Missense_Mutation_p.A25S|C2orf18_uc010eyo.1_Intron|C2orf18_uc010ylc.1_Intron NM_017877 NP_060347 Q8N357 CB018_HUMAN ANT2-binding protein precursor 50 Helical; (Potential). integral to membrane|lysosomal membrane 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTTCCTCCAGGTATCTGGCC 0.627 NA 10 44 6.40141e-05 7.28859e-05 0.000978 1 0 PLB1 151056 broad.mit.edu 37 2 28812885 28812885 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:28812885G>T uc002rmb.1 + 29 2030 c.2030G>T c.(2029-2031)GGC>GTC p.G677V PLB1_uc010ezj.1_Missense_Mutation_p.G666V|PLB1_uc002rmc.2_Missense_Mutation_p.G365V|PLB1_uc002rmd.1_Missense_Mutation_p.G187V NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN phospholipase B1 precursor 677 4 X 308-326 AA approximate repeats.|2.|Extracellular (Potential). lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity ovary(4)|large_intestine(2)|skin(2)|breast(1) 9 Acute lymphoblastic leukemia(172;0.155) GAGCCTGTTGGCCAGAAGACG 0.552 NA 33 72 2.6416e-12 3.88532e-12 0.00623 1 0 ALK 238 broad.mit.edu 37 2 29443644 29443644 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:29443644G>T uc002rmy.2 - 23 4480 c.3573C>A c.(3571-3573)CCC>CCA p.P1191P ALK_uc010ymo.1_Silent_p.P123P NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 1191 Protein kinase.|Cytoplasmic (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GGATGAACCGGGGCAGGGATT 0.567 NA T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 6 34 0.00448238 0.00476433 0.004482 1 0 NLRC4 58484 broad.mit.edu 37 2 32477568 32477568 + Missense_Mutation SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:32477568T>C uc002roi.2 - 3 428 c.182A>G c.(181-183)AAG>AGG p.K61R NLRC4_uc002roj.1_Missense_Mutation_p.K61R|NLRC4_uc010ezt.1_Missense_Mutation_p.K61R NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 61 CARD. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) CTCTGAACCCTTTTTCAAAAT 0.398 NA 3 119 0 0 0.000602 0 0 HEATR5B 54497 broad.mit.edu 37 2 37208830 37208830 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:37208830G>C uc002rpp.1 - 36 6115 c.6019C>G c.(6019-6021)CTC>GTC p.L2007V HEATR5B_uc002rpo.1_Missense_Mutation_p.L319V|HEATR5B_uc010ezy.1_Missense_Mutation_p.L502V NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 2007 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) AAATTCTGGAGTGCAAACTCA 0.433 NA 18 61 0 0 0.008871 0 0 CDKL4 344387 broad.mit.edu 37 2 39411789 39411789 + Splice_Site SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:39411789C>G uc002rrm.2 - 7 736 c.736_splice c.e7-1 p.E246_splice CDKL4_uc010fal.1_Splice_Site_p.E246_splice NM_001009565 NP_001009565 Q5MAI5 CDKL4_HUMAN cyclin-dependent kinase-like 4 cytoplasm ATP binding|cyclin-dependent protein kinase activity ovary(1) 1 all_hematologic(82;0.248) CAAGAGTTTCCTGAAAAACAA 0.219 NA 5 18 0 0 0.001168 0 0 EML4 27436 broad.mit.edu 37 2 42522520 42522520 + Splice_Site SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:42522520G>A uc002rsi.2 + 13 1616 c.1354_splice c.e13-1 p.K452_splice EML4_uc010fap.2_Splice_Site_p.K394_splice|EML4_uc002rsj.2_Splice_Site_p.K141_splice NM_019063 NP_061936 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(246) lung(246)|ovary(2)|central_nervous_system(1)|skin(1) 250 TTTCCTTGTAGAAATATGAAA 0.318 NA T ALK NSCLC 29 59 0 0 0.003755 0 0 ABCG8 64241 broad.mit.edu 37 2 44079786 44079786 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:44079786C>G uc002rtq.2 + 6 833 c.743C>G c.(742-744)GCC>GGC p.A248G ABCG8_uc010yoa.1_Missense_Mutation_p.A248G NM_022437 NP_071882 Q9H221 ABCG8_HUMAN ATP-binding cassette sub-family G member 8 248 ABC transporter.|Cytoplasmic (Potential). cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity skin(3)|ovary(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) AGCTTCACAGCCCACAACCTG 0.582 NA 31 66 0 0 0.003755 0 0 SOCS5 9655 broad.mit.edu 37 2 46986074 46986074 + Silent SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:46986074A>T uc002rvf.2 + 2 569 c.405A>T c.(403-405)TCA>TCT p.S135S SOCS5_uc010yoe.1_Silent_p.S104S|SOCS5_uc002rvg.2_Silent_p.S135S NM_014011 NP_054730 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 135 cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth ovary(1)|lung(1)|central_nervous_system(1) 3 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) CCCAGAGTTCATTGGATGCTG 0.463 NA 14 26 0 0 0.00499 0 0 FBXO11 80204 broad.mit.edu 37 2 48050495 48050495 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:48050495T>A uc010fbl.2 - 12 1265 c.1151A>T c.(1150-1152)TAC>TTC p.Y384F FBXO11_uc002rwe.2_Missense_Mutation_p.Y384F|FBXO11_uc002rwf.2_Missense_Mutation_p.Y384F|FBXO11_uc002rwg.1_Missense_Mutation_p.Y384F|FBXO11_uc010fbk.2_5'UTR NM_025133 NP_079409 Q86XK2 FBX11_HUMAN F-box only protein 11 isoform 1 468 PbH1 4. ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1) 2 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) ACTTTCAAAGTAACCCTGAAA 0.328 NA 5 4 0 0 0.000602 0 0 NRXN1 9378 broad.mit.edu 37 2 50850559 50850560 + Missense_Mutation DNP CC CC AA TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:50850559_50850560CC>AA uc010fbq.2 - 6 2602_2603 c.1125_1126GG>TT c.(1123-1128)CTGGTC>CTTTTC p.V376F NRXN1_uc002rxb.3_Missense_Mutation_p.V23F|NRXN1_uc002rxe.3_Missense_Mutation_p.V343F|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) AAATTAATGACCAGAGAGACAG 0.441 NA 36 75 0 0 0.004672 0 0 SPTBN1 6711 broad.mit.edu 37 2 54873410 54873410 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:54873410G>C uc002rxu.2 + 23 4913 c.4664G>C c.(4663-4665)AGC>ACC p.S1555T SPTBN1_uc002rxx.2_Missense_Mutation_p.S1542T NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 1555 Spectrin 12. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) GTCACTGACAGCAGCAGCCTC 0.572 NA 18 72 0 0 0.00499 0 0 EFEMP1 2202 broad.mit.edu 37 2 56104957 56104957 + Silent SNP G G A rs139930646 TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:56104957G>A uc002rzh.2 - 6 1014 c.684C>T c.(682-684)TGC>TGT p.C228C EFEMP1_uc002rzi.2_Silent_p.C228C|EFEMP1_uc002rzj.2_Silent_p.C228C|EFEMP1_uc010ypc.1_Intron NM_004105 NP_004096 Q12805 FBLN3_HUMAN EGF-containing fibulin-like extracellular matrix 228 EGF-like 3; calcium-binding (Potential). negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity ovary(4)|pancreas(1)|skin(1) 6 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GTGTATTCACGCATCTTTGGT 0.423 GBM(92;934 1319 7714 28760 40110) NA 55 132 0 0 0.00361 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69002507 69002507 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:69002507G>A uc002seu.2 + 2 580 c.216G>A c.(214-216)GCG>GCA p.A72A ARHGAP25_uc010yqk.1_Silent_p.A46A|ARHGAP25_uc010fdg.2_Silent_p.A72A|ARHGAP25_uc010yql.1_Silent_p.A72A|ARHGAP25_uc002sev.2_Silent_p.A65A|ARHGAP25_uc002sew.2_Silent_p.A65A|ARHGAP25_uc002sex.2_Silent_p.A65A|ARHGAP25_uc010fdh.1_Intron NM_001007231 NP_001007232 P42331 RHG25_HUMAN Rho GTPase activating protein 25 isoform a 72 PH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|breast(2) 4 TGCTGAGGGCGCAGCAGCTCT 0.597 NA 3 78 0 0 0.009096 0 0 ARHGAP25 9938 broad.mit.edu 37 2 69015026 69015026 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:69015026C>A uc002seu.2 + 4 768 c.404C>A c.(403-405)TCT>TAT p.S135Y ARHGAP25_uc010yqk.1_Missense_Mutation_p.S109Y|ARHGAP25_uc010fdg.2_Missense_Mutation_p.S135Y|ARHGAP25_uc010yql.1_Intron|ARHGAP25_uc002sev.2_Missense_Mutation_p.S128Y|ARHGAP25_uc002sew.2_Missense_Mutation_p.S128Y|ARHGAP25_uc002sex.2_Missense_Mutation_p.S128Y|ARHGAP25_uc010fdh.1_RNA NM_001007231 NP_001007232 P42331 RHG25_HUMAN Rho GTPase activating protein 25 isoform a 135 PH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|breast(2) 4 ATGGCCAGCTCTCAGGCGGAG 0.542 NA 44 76 2.52991e-16 4.0192e-16 0.00361 1 0 ANTXR1 84168 broad.mit.edu 37 2 69302789 69302789 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:69302789A>T uc002sfg.2 + 7 916 c.560A>T c.(559-561)CAG>CTG p.Q187L ANTXR1_uc002sfe.2_Missense_Mutation_p.Q187L|ANTXR1_uc002sff.2_Missense_Mutation_p.Q187L|ANTXR1_uc002sfd.2_Missense_Mutation_p.Q187L NM_032208 NP_115584 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 isoform 1 precursor 187 Extracellular (Potential).|VWFA. actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity ovary(2)|skin(2) 4 AATGAGACACAGGTATGGTAA 0.408 NA Familial_Infantile_Hemangioma 52 110 0 0 0.00361 0 0 AAK1 22848 broad.mit.edu 37 2 69734643 69734643 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:69734643C>G uc002sfp.2 - 15 2579 c.2074G>C c.(2074-2076)GGG>CGG p.G692R AAK1_uc010fdk.2_Missense_Mutation_p.G692R|AAK1_uc010yqm.1_Missense_Mutation_p.G693R NM_014911 NP_055726 Q2M2I8 AAK1_HUMAN AP2 associated kinase 1 692 coated pit|mitochondrion|plasma membrane ATP binding|protein serine/threonine kinase activity 0 CACGTAGACCCTTCTGAAGGA 0.478 NA 8 9 0 0 0.004482 0 0 DYSF 8291 broad.mit.edu 37 2 71741043 71741043 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:71741043G>T uc002sie.2 + 6 1031 c.655G>T c.(655-657)GAT>TAT p.D219Y DYSF_uc010feg.2_Missense_Mutation_p.D250Y|DYSF_uc010feh.2_Missense_Mutation_p.D219Y|DYSF_uc002sig.3_Missense_Mutation_p.D219Y|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.D219Y|DYSF_uc010fef.2_Missense_Mutation_p.D250Y|DYSF_uc010fei.2_Missense_Mutation_p.D250Y|DYSF_uc010fek.2_Missense_Mutation_p.D251Y|DYSF_uc010fej.2_Missense_Mutation_p.D220Y|DYSF_uc010fel.2_Missense_Mutation_p.D220Y|DYSF_uc010feo.2_Missense_Mutation_p.D251Y|DYSF_uc010fem.2_Missense_Mutation_p.D220Y|DYSF_uc010fen.2_Missense_Mutation_p.D251Y|DYSF_uc002sif.2_Missense_Mutation_p.D220Y NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 219 Cytoplasmic (Potential).|C2 2. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CAAACCGCAGGATTTCCAGGT 0.572 NA 12 37 9.05144e-12 1.30675e-11 0.001855 1 0 DYSF 8291 broad.mit.edu 37 2 71883330 71883330 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:71883330G>T uc002sie.2 + 42 4924 c.4548G>T c.(4546-4548)GAG>GAT p.E1516D DYSF_uc010feg.2_Missense_Mutation_p.E1547D|DYSF_uc010feh.2_Missense_Mutation_p.E1523D|DYSF_uc002sig.3_Missense_Mutation_p.E1502D|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.E1537D|DYSF_uc010fef.2_Missense_Mutation_p.E1554D|DYSF_uc010fei.2_Missense_Mutation_p.E1533D|DYSF_uc010fek.2_Missense_Mutation_p.E1534D|DYSF_uc010fej.2_Missense_Mutation_p.E1524D|DYSF_uc010fel.2_Missense_Mutation_p.E1503D|DYSF_uc010feo.2_Missense_Mutation_p.E1548D|DYSF_uc010fem.2_Missense_Mutation_p.E1538D|DYSF_uc010fen.2_Missense_Mutation_p.E1555D|DYSF_uc002sif.2_Missense_Mutation_p.E1517D|DYSF_uc010yqy.1_Missense_Mutation_p.E397D|DYSF_uc010yqz.1_Missense_Mutation_p.E277D NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1516 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 AGGCCTTTGAGGGCCTGTCTG 0.388 NA 115 187 1.49341e-58 2.78982e-58 0.00361 1 0 TET3 200424 broad.mit.edu 37 2 74274555 74274555 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:74274555C>T uc002skb.3 + 1 1106 c.1106C>T c.(1105-1107)TCC>TTC p.S369F TET3_uc010fez.1_Missense_Mutation_p.S369F NM_144993 NP_659430 O43151 TET3_HUMAN tet oncogene family member 3 369 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 CCGGCCCCATCCCCTGTACTT 0.652 NA 8 11 0 0 0.00308 0 0 TACR1 6869 broad.mit.edu 37 2 75278480 75278480 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:75278480A>T uc002sng.2 - 4 1415 c.830T>A c.(829-831)CTC>CAC p.L277H TACR1_uc002snh.2_Missense_Mutation_p.L277H NM_001058 NP_001049 P25103 NK1R_HUMAN tachykinin receptor 1 isoform long 277 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior integral to plasma membrane protein binding ovary(1) 1 Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894) CTTCAGGTAGAGATCTGGGTT 0.527 Pancreas(64;62 1268 3653 14826 43765) NA 34 87 0 0 0.003271 0 0 IMMT 10989 broad.mit.edu 37 2 86371621 86371621 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:86371621C>G uc002sqz.3 - 15 2435 c.2047G>C c.(2047-2049)GAG>CAG p.E683Q IMMT_uc002sqy.3_Missense_Mutation_p.E424Q|IMMT_uc002srb.3_Missense_Mutation_p.E672Q|IMMT_uc002sra.3_Missense_Mutation_p.E682Q|IMMT_uc010ytd.1_Missense_Mutation_p.E671Q|IMMT_uc010yte.1_Missense_Mutation_p.E636Q NM_006839 NP_006830 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial isoform 1 683 Mitochondrial intermembrane (Potential). integral to mitochondrial inner membrane protein binding skin(1) 1 TTTATATCCTCAGGGCAGAGC 0.473 NA 9 23 0 0 0.004482 0 0 ASTL 431705 broad.mit.edu 37 2 96798449 96798449 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:96798449C>G uc010yui.1 - 6 467 c.467G>C c.(466-468)AGT>ACT p.S156T NM_001002036 NP_001002036 Q6HA08 ASTL_HUMAN astacin-like metalloendopeptidase precursor 156 proteolysis metalloendopeptidase activity|zinc ion binding 0 GCGCCCCACACTCGAGAAGCA 0.622 NA 10 52 0 0 0.006214 0 0 VWA3B 200403 broad.mit.edu 37 2 98872621 98872621 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:98872621C>A uc002syo.2 + 21 3091 c.2827C>A c.(2827-2829)CAA>AAA p.Q943K VWA3B_uc002sym.2_Missense_Mutation_p.Q943K|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.Q600K|VWA3B_uc002syp.1_Missense_Mutation_p.Q335K|VWA3B_uc002syq.1_Missense_Mutation_p.Q219K|VWA3B_uc002syr.1_Missense_Mutation_p.Q260K|VWA3B_uc002sys.2_RNA NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 943 ovary(3)|large_intestine(2)|skin(1) 6 AGCATTATCTCAAGAGGAAAA 0.249 NA 6 51 0.00198382 0.00213454 0.001984 1 0 CNGA3 1261 broad.mit.edu 37 2 99012508 99012508 + Missense_Mutation SNP A A C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:99012508A>C uc002syt.2 + 8 1292 c.875A>C c.(874-876)GAG>GCG p.E292A CNGA3_uc002syu.2_Missense_Mutation_p.E274A|CNGA3_uc010fij.2_Missense_Mutation_p.E296A NM_001298 NP_001289 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 isoform 292 signal transduction|visual perception integral to membrane cGMP binding ovary(5)|upper_aerodigestive_tract(1) 6 GACCGCACAGAGACAAGGACC 0.473 NA 25 23 0 0 0.003954 0 0 IL18RAP 8807 broad.mit.edu 37 2 103053770 103053770 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:103053770G>A uc002tbx.2 + 6 1162 c.678G>A c.(676-678)TCG>TCA p.S226S IL18RAP_uc010fiz.2_Silent_p.S84S NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 226 Ig-like C2-type 1.|Extracellular (Potential). cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 ACACTCAGTCGGATACTGTGA 0.413 NA 11 62 0 0 0.001368 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459530 107459530 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:107459530C>A uc002tdq.2 - 2 1023 c.904G>T c.(904-906)GCA>TCA p.A302S ST6GAL2_uc002tdr.2_Missense_Mutation_p.A302S|ST6GAL2_uc002tds.3_Missense_Mutation_p.A302S NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 302 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 ATTGCGCCTGCAGACATGACG 0.697 NA 3 5 0.00024832 0.000277424 0.009096 1 0 ANAPC1 64682 broad.mit.edu 37 2 112615883 112615883 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:112615883C>A uc002thi.2 - 11 1605 c.1358G>T c.(1357-1359)CGC>CTC p.R453L NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 453 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm skin(2) 2 ATACACCTACCGTAACTGGAG 0.308 NA 8 26 0.00448238 0.00476433 0.004482 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125504840 125504840 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:125504840C>A uc002tno.2 + 14 2473 c.2109C>A c.(2107-2109)TCC>TCA p.S703S CNTNAP5_uc010flu.2_Silent_p.S704S NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 703 Extracellular (Potential).|Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TTGGGCGGTCCAATGAAAGGC 0.542 NA 19 23 3.99206e-14 6.05116e-14 0.007413 1 0 GPR17 2840 broad.mit.edu 37 2 128408738 128408738 + Silent SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:128408738C>G uc010yzn.1 + 4 1124 c.513C>G c.(511-513)CGC>CGG p.R171R LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Silent_p.R171R|GPR17_uc010yzo.1_Silent_p.R143R|GPR17_uc002tpd.2_Silent_p.R143R NM_001161415 NP_001154887 Q13304 GPR17_HUMAN G protein-coupled receptor 17 isoform a 171 Cytoplasmic (Potential). integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled 0 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) TCAAGCTCCGCAGGCCCCTCT 0.627 NA 18 105 0 0 0.010504 0 0 TUBA3E 112714 broad.mit.edu 37 2 130949494 130949494 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:130949494G>T uc002tqv.2 - 5 1364 c.1263C>A c.(1261-1263)GCC>GCA p.A421A NM_207312 NP_997195 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 421 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 Colorectal(110;0.1) GGTCCTCGCGGGCCTCAGAGA 0.587 NA 35 212 9.62906e-15 1.47612e-14 0.00623 1 0 PTPN18 26469 broad.mit.edu 37 2 131126739 131126739 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:131126739G>C uc002trc.2 + 6 549 c.448G>C c.(448-450)GAG>CAG p.E150Q PTPN18_uc002trd.2_Missense_Mutation_p.E150Q|PTPN18_uc002trb.2_Missense_Mutation_p.E43Q|PTPN18_uc002tre.2_5'Flank NM_014369 NP_055184 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 150 Tyrosine-protein phosphatase. cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity ovary(3)|kidney(1) 4 Colorectal(110;0.1) CCAGGAGCAGGAGCCACTGCA 0.537 NA 48 187 0 0 0.00361 0 0 POTEE 445582 broad.mit.edu 37 2 132021826 132021826 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:132021826G>T uc002tsn.2 + 15 2850 c.2798G>T c.(2797-2799)AGC>ATC p.S933I PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.S533I|POTEE_uc002tsl.2_Missense_Mutation_p.S515I|POTEE_uc010fmy.1_Missense_Mutation_p.S397I NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 933 Actin-like. ATP binding 0 GCGGCCTCCAGCTCCTCCCTA 0.617 NA 56 195 1.53134e-21 2.57882e-21 0.00361 1 0 LOC401010 401010 broad.mit.edu 37 2 132201684 132201684 + Missense_Mutation SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:132201684T>C uc002tst.2 - 1 784 c.318A>G c.(316-318)ATA>ATG p.I106M NR_002826 SubName: Full=cDNA FLJ12694 fis, clone NT2RP1000358, highly similar to Homo sapiens mRNA; cDNA DKFZp564C186 (from clone DKFZp564C186); 0 ACACTAGCTGTATGACCGAGC 0.622 NA 7 17 0 0 0.000978 0 0 R3HDM1 23518 broad.mit.edu 37 2 136437836 136437836 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:136437836A>T uc002tuo.2 + 20 2666 c.2296A>T c.(2296-2298)ACA>TCA p.T766S R3HDM1_uc010fni.2_Missense_Mutation_p.T765S|R3HDM1_uc002tup.2_Missense_Mutation_p.T711S|R3HDM1_uc010zbh.1_Missense_Mutation_p.T514S NM_015361 NP_056176 Q15032 R3HD1_HUMAN R3H domain containing 1 766 nucleic acid binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.127) ATCTATGCCCACAACAGGAAT 0.403 NA 48 57 0 0 0.00361 0 0 SPOPL 339745 broad.mit.edu 37 2 139322383 139322383 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:139322383G>A uc002tvh.2 + 9 1343 c.943G>A c.(943-945)GAA>AAA p.E315K NM_001001664 NP_001001664 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 315 nucleus skin(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0296) GCACAGTGCAGAACAGTTGAA 0.403 NA 42 126 0 0 0.002852 0 0 LRP1B 53353 broad.mit.edu 37 2 141110584 141110584 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:141110584C>G uc002tvj.1 - 76 12560 c.11588G>C c.(11587-11589)GGA>GCA p.G3863A NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3863 Extracellular (Potential).|EGF-like 9. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTTATATGATCCTTCCACATT 0.338 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 31 73 0 0 0.003271 0 0 LRP1B 53353 broad.mit.edu 37 2 141202233 141202233 + Missense_Mutation SNP T T G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:141202233T>G uc002tvj.1 - 64 11045 c.10073A>C c.(10072-10074)CAG>CCG p.Q3358P NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3358 Extracellular (Potential).|LDL-receptor class A 22. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCGGCCTGGCTGACATCTAAA 0.408 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 12 69 0 0 0.00245 0 0 LRP1B 53353 broad.mit.edu 37 2 141260667 141260667 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:141260667G>T uc002tvj.1 - 54 9499 c.8527C>A c.(8527-8529)CGA>AGA p.R2843R NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2843 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCACACTGTCGATATCCTAGA 0.398 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 4 49 0.00116845 0.00126823 0.001168 1 0 LRP1B 53353 broad.mit.edu 37 2 141680656 141680656 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:141680656C>A uc002tvj.1 - 21 4169 c.3197G>T c.(3196-3198)TGC>TTC p.C1066F LRP1B_uc010fnl.1_Missense_Mutation_p.C248F NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1066 Extracellular (Potential).|LDL-receptor class A 8. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATCAGGAACGCAATTACCATC 0.438 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 10 58 3.86212e-05 4.42789e-05 0.008291 1 0 ZEB2 9839 broad.mit.edu 37 2 145161502 145161502 + Missense_Mutation SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:145161502T>C uc002tvu.2 - 6 1268 c.788A>G c.(787-789)CAC>CGC p.H263R ZEB2_uc002tvv.2_Missense_Mutation_p.H257R|ZEB2_uc010zbm.1_Missense_Mutation_p.H234R|ZEB2_uc010fnp.2_Missense_Mutation_p.H171R|ZEB2_uc010fnq.1_Missense_Mutation_p.H292R NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 263 C2H2-type 2. cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) CCCTGGCTTGTGTGTCACCAT 0.403 Melanoma(33;1235 1264 5755 16332) NA 102 93 0 0 0.00361 0 0 TNFAIP6 7130 broad.mit.edu 37 2 152220529 152220529 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:152220529C>A uc002txk.2 + 2 243 c.167C>A c.(166-168)GCG>GAG p.A56E NM_007115 NP_009046 P98066 TSG6_HUMAN tumor necrosis factor, alpha-induced protein 6 56 Link. cell adhesion|cell-cell signaling|inflammatory response|signal transduction hyaluronic acid binding 0 BRCA - Breast invasive adenocarcinoma(221;0.131) GAAGCTAAGGCGGTGTGTGAA 0.448 NA 7 64 2.0095e-06 2.44928e-06 0.001984 1 0 NEB 4703 broad.mit.edu 37 2 152420221 152420221 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:152420221C>G uc010fnx.2 - 91 13680 c.13489G>C c.(13489-13491)GAG>CAG p.E4497Q NEB_uc002txr.2_Missense_Mutation_p.E920Q NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 4497 Nebulin 123. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TCATATGTCTCTTTGTATTTA 0.448 NA 65 155 0 0 0.00361 0 0 NEB 4703 broad.mit.edu 37 2 152500419 152500419 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:152500419G>T uc010fnx.2 - 57 8060 c.7869C>A c.(7867-7869)GAC>GAA p.D2623E NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 2623 Nebulin 70. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) AGTTCTTGTAGTCCACGTCGC 0.552 NA 62 224 1.33661e-31 2.386e-31 0.00361 1 0 STAM2 10254 broad.mit.edu 37 2 152989690 152989690 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:152989690C>T uc002tyc.3 - 10 1317 c.967G>A c.(967-969)GAA>AAA p.E323K STAM2_uc010foa.1_Missense_Mutation_p.E323K|STAM2_uc002tyd.2_Missense_Mutation_p.E323K NM_005843 NP_005834 O75886 STAM2_HUMAN signal transducing adaptor molecule 2 323 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.22) TAAGTACCTTCTAAATCCAAA 0.333 NA 9 61 0 0 0.008291 0 0 GALNT13 114805 broad.mit.edu 37 2 155295238 155295238 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:155295238G>T uc002tyr.3 + 12 2097 c.1530G>T c.(1528-1530)GAG>GAT p.E510D GALNT13_uc002tyt.3_Missense_Mutation_p.E510D|GALNT13_uc010fod.2_3'UTR|uc002tyu.1_Intron NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 510 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 ATGATGCTGAGGTATAGTATT 0.318 NA 8 64 6.40141e-05 7.28859e-05 0.000978 1 0 PKP4 8502 broad.mit.edu 37 2 159477908 159477908 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:159477908G>C uc002tzv.2 + 6 838 c.578G>C c.(577-579)AGA>ACA p.R193T PKP4_uc002tzt.1_Missense_Mutation_p.R45T|PKP4_uc002tzu.2_Missense_Mutation_p.R193T|PKP4_uc002tzw.2_Missense_Mutation_p.R193T|PKP4_uc002tzx.2_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Missense_Mutation_p.R191T|PKP4_uc002uaa.2_Missense_Mutation_p.R45T NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a 193 cell adhesion desmosome protein binding ovary(5)|skin(2) 7 AGGAATTCAAGAGCTGAAGGA 0.388 NA HNSCC(62;0.18) 14 22 0 0 0.004007 0 0 TANC1 85461 broad.mit.edu 37 2 160035567 160035567 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:160035567C>T uc002uag.2 + 14 2677 c.2403C>T c.(2401-2403)TTC>TTT p.F801F TANC1_uc010fol.1_Silent_p.F695F|TANC1_uc010zcm.1_Silent_p.F793F|TANC1_uc010fom.1_Silent_p.F607F|TANC1_uc002uai.1_RNA NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 801 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 TCTCCTGCTTCCTCATTAAGA 0.557 NA 33 92 0 0 0.002836 0 0 TBR1 10716 broad.mit.edu 37 2 162279953 162279953 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:162279953G>T uc002ubw.1 + 6 1566 c.1264G>T c.(1264-1266)GGG>TGG p.G422W TBR1_uc010foy.2_Missense_Mutation_p.G135W NM_006593 NP_006584 Q16650 TBR1_HUMAN T-box, brain, 1 422 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 GATCGTGCCCGGGGCCCGCTA 0.577 NA 40 23 4.14194e-30 7.34971e-30 0.002852 1 0 COBLL1 22837 broad.mit.edu 37 2 165559624 165559624 + Silent SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:165559624T>C uc010zcw.1 - 12 1654 c.1530A>G c.(1528-1530)ACA>ACG p.T510T COBLL1_uc002ucp.2_Silent_p.T444T|COBLL1_uc002ucq.2_Intron|COBLL1_uc010zcx.1_Intron|COBLL1_uc002ucs.1_RNA|COBLL1_uc002uco.2_Intron NM_014900 NP_055715 Q53SF7 COBL1_HUMAN COBL-like 1 482 ovary(2)|pancreas(1) 3 ATGTCAATGATGTTATGGCTG 0.502 NA 131 144 0 0 0.00361 0 0 TTC21B 79809 broad.mit.edu 37 2 166747379 166747379 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:166747379C>T uc002udk.2 - 23 3203 c.3070G>A c.(3070-3072)GGA>AGA p.G1024R TTC21B_uc002udj.1_RNA NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 1024 TPR 16. cilium axoneme|cytoplasm|cytoskeleton binding ovary(2)|pancreas(2)|breast(1) 5 TACTGAAATCCTGGTTCCAAT 0.333 NA 6 41 0 0 0.001168 0 0 XIRP2 129446 broad.mit.edu 37 2 167992470 167992470 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:167992470G>T uc002udx.2 + 2 478 c.460G>T c.(460-462)GGG>TGG p.G154W XIRP2_uc010fpn.2_Missense_Mutation_p.G154W|XIRP2_uc010fpo.2_Missense_Mutation_p.G154W|XIRP2_uc010fpp.2_Missense_Mutation_p.G154W|XIRP2_uc002udy.2_5'UTR NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 Error:Variant_position_missing_in_A4UGR9_after_alignment actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GAGTCACCCTGGGAGCCAGCT 0.433 NA 22 61 7.88262e-20 1.30529e-19 0.00333 1 0 XIRP2 129446 broad.mit.edu 37 2 168101740 168101740 + Nonsense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:168101740G>T uc002udx.2 + 8 3856 c.3838G>T c.(3838-3840)GAG>TAG p.E1280* XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Nonsense_Mutation_p.E1105*|XIRP2_uc010fpq.2_Nonsense_Mutation_p.E1058*|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1105 Xin 21. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CTTTATTTTTGAGACTTTTTC 0.353 NA 4 93 1.23904e-05 1.44506e-05 0.000602 1 0 LASS6 253782 broad.mit.edu 37 2 169571583 169571583 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:169571583G>A uc002ueb.1 + 7 806 c.682G>A c.(682-684)GCC>ACC p.A228T LASS6_uc002uec.1_Missense_Mutation_p.A228T NM_203463 NP_982288 Q6ZMG9 CERS6_HUMAN longevity assurance homolog 6 228 Cytoplasmic (Potential).|TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity skin(1) 1 CAACAATATGGCCCGAGTAGG 0.363 NA 42 46 0 0 0.00361 0 0 DCAF17 80067 broad.mit.edu 37 2 172309638 172309638 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:172309638G>C uc002ugx.2 + 6 771 c.542G>C c.(541-543)GGC>GCC p.G181A DCAF17_uc010zdq.1_RNA|DCAF17_uc010fqf.1_Missense_Mutation_p.G181A|DCAF17_uc010zdr.1_RNA|DCAF17_uc010fqg.2_5'UTR NM_025000 NP_079276 Q5H9S7 DCA17_HUMAN DDB1 and CUL4 associated factor 17 isoform 1 181 CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus 0 TTCTAGGCAGGCATTCAACAA 0.378 NA 4 63 0 0 0.001168 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173855632 173855632 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:173855632G>C uc002uhv.3 + 15 1656 c.1469G>C c.(1468-1470)GGA>GCA p.G490A RAPGEF4_uc002uhw.3_Missense_Mutation_p.G346A|RAPGEF4_uc010zec.1_Missense_Mutation_p.G337A|RAPGEF4_uc010zed.1_Missense_Mutation_p.G319A|RAPGEF4_uc010zee.1_Missense_Mutation_p.G337A|RAPGEF4_uc010fqo.2_Missense_Mutation_p.G319A|RAPGEF4_uc010zef.1_Missense_Mutation_p.G270A|RAPGEF4_uc010zeg.1_Missense_Mutation_p.G317A|RAPGEF4_uc010zeh.1_Missense_Mutation_p.G270A NM_007023 NP_008954 Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 490 blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.194) TCTAATCAAGGAAACTCACAG 0.433 NA 14 31 0 0 0.00499 0 0 TTC30A 92104 broad.mit.edu 37 2 178483321 178483321 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:178483321C>G uc002ulo.2 - 1 374 c.109G>C c.(109-111)GAA>CAA p.E37Q NM_152275 NP_689488 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 37 TPR 1. cell projection organization cilium binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) CGCTGCAGTTCTCGGCCCAGC 0.687 NA 4 7 0 0 0.009096 0 0 TTN 7273 broad.mit.edu 37 2 179428686 179428686 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:179428686C>G uc010zfg.1 - 275 74693 c.74469G>C c.(74467-74469)TGG>TGC p.W24823C uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.W18518C|TTN_uc010zfi.1_Missense_Mutation_p.W18451C|TTN_uc010zfj.1_Missense_Mutation_p.W18326C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 25750 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAGGTGGGTTCCATGCCAGGT 0.473 NA 9 55 0 0 0.006214 0 0 TTN 7273 broad.mit.edu 37 2 179430746 179430746 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:179430746C>G uc010zfg.1 - 275 72633 c.72409G>C c.(72409-72411)GAG>CAG p.E24137Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E17832Q|TTN_uc010zfi.1_Missense_Mutation_p.E17765Q|TTN_uc010zfj.1_Missense_Mutation_p.E17640Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 25064 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGGGTGGCTCCCATACCAGG 0.438 NA 23 95 0 0 0.003954 0 0 TTN 7273 broad.mit.edu 37 2 179432829 179432829 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:179432829C>T uc010zfg.1 - 275 70550 c.70326G>A c.(70324-70326)CAG>CAA p.Q23442Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.Q17137Q|TTN_uc010zfi.1_Silent_p.Q17070Q|TTN_uc010zfj.1_Silent_p.Q16945Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24369 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTTCATGCCACTGTATGACCA 0.448 NA 7 46 0 0 0.004482 0 0 TTN 7273 broad.mit.edu 37 2 179436812 179436812 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:179436812C>T uc010zfg.1 - 275 66567 c.66343G>A c.(66343-66345)GAA>AAA p.E22115K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E15810K|TTN_uc010zfi.1_Missense_Mutation_p.E15743K|TTN_uc010zfj.1_Missense_Mutation_p.E15618K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23042 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAGTATTCTTCACCCTGAATT 0.478 NA 8 27 0 0 0.008291 0 0 TTN 7273 broad.mit.edu 37 2 179436945 179436945 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:179436945C>T uc010zfg.1 - 275 66434 c.66210G>A c.(66208-66210)GAG>GAA p.E22070E uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.E15765E|TTN_uc010zfi.1_Silent_p.E15698E|TTN_uc010zfj.1_Silent_p.E15573E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22997 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTCTGGTTTCTCCCAAGAGA 0.478 NA 11 29 0 0 0.000978 0 0 TTN 7273 broad.mit.edu 37 2 179465646 179465646 + Missense_Mutation SNP A A C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:179465646A>C uc010zfg.1 - 237 48505 c.48281T>G c.(48280-48282)GTC>GGC p.V16094G uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V9789G|TTN_uc010zfi.1_Missense_Mutation_p.V9722G|TTN_uc010zfj.1_Missense_Mutation_p.V9597G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17021 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCAGCATTGACAGCTTTGAC 0.478 NA 28 134 0 0 0.003271 0 0 TTN 7273 broad.mit.edu 37 2 179480037 179480037 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:179480037G>T uc010zfg.1 - 208 41155 c.40931C>A c.(40930-40932)ACA>AAA p.T13644K uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T7339K|TTN_uc010zfi.1_Missense_Mutation_p.T7272K|TTN_uc010zfj.1_Missense_Mutation_p.T7147K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14571 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AACCTACTTTGTTTCTGCAAC 0.373 NA 5 45 5.9392e-07 7.35353e-07 0.001168 1 0 TTN 7273 broad.mit.edu 37 2 179588354 179588354 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:179588354C>A uc010zfg.1 - 71 17965 c.17741G>T c.(17740-17742)AGC>ATC p.S5914I TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S2575I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6841 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTAATAACGCTTGTGAAGGT 0.418 NA 6 19 0.00116845 0.00126823 0.001168 1 0 TTN 7273 broad.mit.edu 37 2 179615829 179615829 + Silent SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:179615829A>T uc002unb.2 - 46 11522 c.11298T>A c.(11296-11298)GCT>GCA p.A3766A TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAATACTCTCAGCTGAATGAT 0.358 NA 40 50 0 0 0.00623 0 0 TTN 7273 broad.mit.edu 37 2 179638602 179638602 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:179638602G>T uc010zfg.1 - 31 7517 c.7293C>A c.(7291-7293)GCC>GCA p.A2431A TTN_uc010zfh.1_Silent_p.A2385A|TTN_uc010zfi.1_Silent_p.A2385A|TTN_uc010zfj.1_Silent_p.A2385A|TTN_uc002unb.2_Silent_p.A2431A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2431 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGAGGCCAAGGGCTGGAATGG 0.403 NA 13 102 6.31663e-08 8.15349e-08 0.003163 1 0 TTN 7273 broad.mit.edu 37 2 179645895 179645895 + Missense_Mutation SNP C C A rs149883066 TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:179645895C>A uc010zfg.1 - 21 3700 c.3476G>T c.(3475-3477)CGC>CTC p.R1159L TTN_uc010zfh.1_Missense_Mutation_p.R1113L|TTN_uc010zfi.1_Missense_Mutation_p.R1113L|TTN_uc010zfj.1_Missense_Mutation_p.R1113L|TTN_uc002unb.2_Missense_Mutation_p.R1159L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1159 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGCTTATTGCGAACAACAAT 0.388 NA 27 23 1.16021e-09 1.58715e-09 0.007291 1 0 CERKL 375298 broad.mit.edu 37 2 182413481 182413481 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:182413481C>T uc002unx.2 - 8 1178 c.1077G>A c.(1075-1077)CTG>CTA p.L359L CERKL_uc002uny.2_Silent_p.L333L|CERKL_uc010zfm.1_Silent_p.L315L|CERKL_uc002unz.2_Silent_p.L81L|CERKL_uc002uoa.2_Silent_p.L264L|CERKL_uc002uob.2_Silent_p.L81L|CERKL_uc002uoc.2_Silent_p.L220L|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Silent_p.L128L|CERKL_uc002uoe.2_Silent_p.L333L|CERKL_uc002unw.2_5'Flank NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN ceramide kinase-like isoform b 359 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus diacylglycerol kinase activity ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.088) ATTTTTCTGCCAGAGCCAAAG 0.453 NA 8 50 0 0 0.00308 0 0 SSFA2 6744 broad.mit.edu 37 2 182783599 182783599 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:182783599G>A uc002uoi.2 + 13 3305 c.2983G>A c.(2983-2985)GAG>AAG p.E995K SSFA2_uc002uoh.2_Missense_Mutation_p.E995K|SSFA2_uc002uoj.2_Missense_Mutation_p.E995K|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.E842K|SSFA2_uc002uol.2_Missense_Mutation_p.E842K|SSFA2_uc002uom.2_Missense_Mutation_p.E463K NM_001130445 NP_001123917 P28290 SSFA2_HUMAN sperm specific antigen 2 isoform 1 995 Potential. cytoplasm|plasma membrane actin binding breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TCATATGACTGAGGAGGAGAG 0.358 NA 17 44 0 0 0.010504 0 0 COL3A1 1281 broad.mit.edu 37 2 189857656 189857656 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:189857656C>A uc002uqj.1 + 15 1157 c.1040C>A c.(1039-1041)CCT>CAT p.P347H COL3A1_uc010frw.1_RNA NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 347 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CCTGGATCCCCTGGTGCTAAG 0.388 NA 5 65 5.9392e-07 7.35353e-07 0.001168 1 0 OBFC2A 64859 broad.mit.edu 37 2 192543851 192543851 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:192543851G>A uc002usx.2 + 2 707 c.227G>A c.(226-228)AGA>AAA p.R76K OBFC2A_uc002usw.2_5'UTR|OBFC2A_uc002usy.2_RNA|OBFC2A_uc002usz.2_RNA|OBFC2A_uc002uta.2_5'UTR NM_001031716 NP_001026886 Q96AH0 SOSB2_HUMAN oligonucleotide/oligosaccharide-binding fold 76 OB. double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation SOSS complex single-stranded DNA binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.061)|Epithelial(96;0.244) CGGTTGACCAGAGGGTAGGTG 0.527 NA 16 67 0 0 0.008871 0 0 SGOL2 151246 broad.mit.edu 37 2 201438346 201438346 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:201438346C>G uc002uvw.2 + 7 3390 c.3277C>G c.(3277-3279)CAT>GAT p.H1093D SGOL2_uc010zhd.1_Missense_Mutation_p.H1093D|SGOL2_uc010zhe.1_Missense_Mutation_p.H1093D NM_152524 NP_689737 Q562F6 SGOL2_HUMAN shugoshin-like 2 isoform 1 1093 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding ovary(2)|skin(2) 4 TCCAGAGAGCCATGAAGTAAT 0.368 NA 13 66 0 0 0.00245 0 0 ALS2 57679 broad.mit.edu 37 2 202603421 202603421 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:202603421C>A uc002uyo.2 - 12 2745 c.2389G>T c.(2389-2391)GGA>TGA p.G797* ALS2_uc002uyp.3_Nonsense_Mutation_p.G797*|ALS2_uc010ftl.2_RNA NM_020919 NP_065970 Q96Q42 ALS2_HUMAN alsin isoform 1 797 DH. cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity skin(5)|lung(1)|breast(1) 7 AGCTGGAATCCTCCCATAACC 0.383 NA 9 44 1.08611e-07 1.38156e-07 0.000978 1 0 FZD7 8324 broad.mit.edu 37 2 202901057 202901057 + Nonsense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:202901057A>T uc002uyw.1 + 1 1748 c.1687A>T c.(1687-1689)AGA>TGA p.R563* NM_003507 NP_003498 O75084 FZD7_HUMAN frizzled 7 precursor 563 Cytoplasmic (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding skin(2)|ovary(1)|breast(1) 4 CTTCTACCACAGACTTAGCCA 0.612 NA 33 37 0 0 0.004289 0 0 MAP2 4133 broad.mit.edu 37 2 210574909 210574909 + Silent SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:210574909A>T uc002vde.1 + 12 5252 c.5004A>T c.(5002-5004)CCA>CCT p.P1668P MAP2_uc002vdd.1_Silent_p.P369P|MAP2_uc002vdf.1_Silent_p.P312P|MAP2_uc002vdg.1_Silent_p.P312P|MAP2_uc002vdh.1_Silent_p.P369P|MAP2_uc002vdi.1_Silent_p.P1664P NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 1668 Tau/MAP 1. central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AACCACTGCCAGACCTGAAGA 0.478 Pancreas(27;423 979 28787 29963) NA 5 5 0 0 0.000602 0 0 UNC80 285175 broad.mit.edu 37 2 210642116 210642116 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:210642116A>T uc010zjc.1 + 4 513 c.433A>T c.(433-435)AGC>TGC p.S145C UNC80_uc002vdj.1_Missense_Mutation_p.S145C NM_032504 NP_115893 Q8N2C7 UNC80_HUMAN chromosome 2 open reading frame 21 isoform 1 145 integral to membrane 0 GGGTGGAAGCAGCAGTGCTTT 0.547 NA 7 37 0 0 0.00308 0 0 CPS1 1373 broad.mit.edu 37 2 211527880 211527880 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:211527880G>T uc002vee.3 + 33 4093 c.3961G>T c.(3961-3963)GCT>TCT p.A1321S CPS1_uc010fur.2_Missense_Mutation_p.A1327S|CPS1_uc010fus.2_Missense_Mutation_p.A870S NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 1321 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GTTGAGGGATGCTGACCCCAT 0.398 NA 12 82 2.32078e-09 3.14299e-09 0.003163 1 0 ERBB4 2066 broad.mit.edu 37 2 212426702 212426702 + Missense_Mutation SNP A A C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:212426702A>C uc002veg.1 - 20 2511 c.2413T>G c.(2413-2415)TTG>GTG p.L805V ERBB4_uc002veh.1_Missense_Mutation_p.L805V|ERBB4_uc010zji.1_Missense_Mutation_p.L795V|ERBB4_uc010zjj.1_Missense_Mutation_p.L795V|ERBB4_uc010fut.1_Missense_Mutation_p.L805V NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 805 Protein kinase.|Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ACATACTCCAACAGGCAGCCA 0.493 NA TSP Lung(8;0.080) 18 156 0 0 0.007413 0 0 IKZF2 22807 broad.mit.edu 37 2 213921620 213921620 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:213921620C>T uc002vem.2 - 4 512 c.343G>A c.(343-345)GAC>AAC p.D115N IKZF2_uc010fuu.2_Intron|IKZF2_uc002vej.2_Missense_Mutation_p.D62N|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Intron|IKZF2_uc002vel.2_Intron|IKZF2_uc010fuw.2_5'UTR|IKZF2_uc010fux.2_Intron|IKZF2_uc010fuy.2_Intron|IKZF2_uc002ven.2_Intron NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN helios isoform 1 115 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) CCACAGACGTCACATTTCAGT 0.498 NA 20 58 0 0 0.001882 0 0 ZNF142 7701 broad.mit.edu 37 2 219509212 219509212 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:219509212C>A uc002vin.2 - 8 2463 c.2027G>T c.(2026-2028)GGG>GTG p.G676V ZNF142_uc002vil.2_Missense_Mutation_p.G637V|ZNF142_uc010fvt.2_Missense_Mutation_p.G513V|ZNF142_uc002vim.2_Missense_Mutation_p.G513V NM_001105537 NP_001099007 P52746 ZN142_HUMAN zinc finger protein 142 676 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CAGGTCACCCCCATGGGGAGC 0.632 Colon(170;867 1942 8995 15834 18053) NA 23 32 6.32553e-13 9.41548e-13 0.004656 1 0 CCDC108 255101 broad.mit.edu 37 2 219888887 219888887 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:219888887C>G uc002vjl.1 - 15 2529 c.2445G>C c.(2443-2445)CAG>CAC p.Q815H NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 815 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTGAGCCTCTCTGGGGGGCCA 0.632 NA 9 51 0 0 0.004482 0 0 IHH 3549 broad.mit.edu 37 2 219920417 219920417 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:219920417C>A uc002vjo.1 - 3 748 c.748G>T c.(748-750)GAG>TAG p.E250* NM_002181 NP_002172 Q14623 IHH_HUMAN Indian hedgehog homolog precursor 250 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity breast(1) 1 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTGTGAGGCTCGCGGTCCAGG 0.642 NA 26 13 2.85442e-18 4.65408e-18 0.002096 1 0 TUBA4B 80086 broad.mit.edu 37 2 220136173 220136173 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:220136173C>A uc002vkv.1 + 4 643 c.478C>A c.(478-480)CGC>AGC p.R160S TUBA4B_uc002vku.2_Intron NR_003063 RecName: Full=Putative tubulin-like protein alpha-4B; AltName: Full=Alpha-tubulin 4B; 0 AGACATCGAGCGCCCAACCTA 0.532 NA 16 63 3.51602e-12 5.14092e-12 0.008871 1 0 SPEG 10290 broad.mit.edu 37 2 220329177 220329177 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:220329177C>A uc010fwg.2 + 9 2728 c.2728C>A c.(2728-2730)CGC>AGC p.R910S SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Missense_Mutation_p.R118S|SPEG_uc002vln.1_Missense_Mutation_p.R118S|SPEG_uc002vlp.1_Missense_Mutation_p.R118S|SPEG_uc002vlq.2_Missense_Mutation_p.R61S NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 910 Ig-like 3. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCAGCCCGTGCGCCCAGACCA 0.657 NA 19 55 3.08376e-08 4.02595e-08 0.00333 1 0 MRPL44 65080 broad.mit.edu 37 2 224822340 224822340 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:224822340C>T uc002vnr.3 + 1 220 c.151C>T c.(151-153)CTG>TTG p.L51L NM_022915 NP_075066 Q9H9J2 RM44_HUMAN mitochondrial ribosomal protein L44 precursor 51 RNA processing mitochondrion|ribosome double-stranded RNA binding|protein binding|ribonuclease III activity central_nervous_system(1) 1 all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008) GCAGCGCCTTCTGCGGTGCCC 0.697 NA 4 12 0 0 0.009096 0 0 SERPINE2 5270 broad.mit.edu 37 2 224862913 224862913 + Missense_Mutation SNP A A G rs11548971 TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:224862913A>G uc002vnu.2 - 3 649 c.406T>C c.(406-408)TGT>CGT p.C136R SERPINE2_uc002vnt.2_Missense_Mutation_p.C136R|SERPINE2_uc010zlr.1_Missense_Mutation_p.C148R|SERPINE2_uc002vnv.2_Missense_Mutation_p.C136R NM_006216 NP_006207 P07093 GDN_HUMAN plasminogen activator inhibitor type 1, member 2 136 negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule heparin binding|receptor binding|serine-type endopeptidase inhibitor activity breast(2)|ovary(1)|central_nervous_system(1) 4 Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797) Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902) CGGACCTCACACTGGAACACA 0.448 NA 9 32 0 0 0.008291 0 0 COL4A4 1286 broad.mit.edu 37 2 227886843 227886843 + Silent SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:227886843T>A uc010zlt.1 - 43 4791 c.4137A>T c.(4135-4137)CCA>CCT p.P1379P NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 1379 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CAGGAAGGCCTGGGATTCGGG 0.582 NA 43 160 0 0 0.00361 0 0 DNER 92737 broad.mit.edu 37 2 230456418 230456418 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:230456418G>T uc002vpv.2 - 2 610 c.463C>A c.(463-465)CCT>ACT p.P155T NM_139072 NP_620711 Q8NFT8 DNER_HUMAN delta-notch-like EGF repeat-containing 155 Extracellular (Potential). central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity lung(5)|ovary(2)|skin(1) 8 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) GCAGGAACAGGCTGAAGCTGT 0.557 NA 8 51 2.17888e-05 2.52532e-05 0.006214 1 0 ARMC9 80210 broad.mit.edu 37 2 232156095 232156095 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:232156095C>G uc002vrq.3 + 18 1768 c.1656C>G c.(1654-1656)ATC>ATG p.I552M ARMC9_uc002vrp.3_Missense_Mutation_p.I552M|ARMC9_uc002vrr.1_RNA NM_025139 NP_079415 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 552 binding ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) GCTGCTTCATCAAAGAAGGCA 0.388 NA 24 153 0 0 0.002836 0 0 ALPI 248 broad.mit.edu 37 2 233321707 233321707 + Silent SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:233321707A>T uc002vst.3 + 4 476 c.399A>T c.(397-399)GCA>GCT p.A133A ALPI_uc002vsu.3_Silent_p.A44A NM_001631 NP_001622 P09923 PPBI_HUMAN intestinal alkaline phosphatase precursor 133 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding central_nervous_system(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) GCTTGAGTGCAGCCGCCCGCT 0.617 NA 6 47 0 0 0.001984 0 0 CHRND 1144 broad.mit.edu 37 2 233393274 233393274 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:233393274G>T uc002vsw.2 + 5 421 c.417G>T c.(415-417)GTG>GTT p.V139V CHRND_uc010zmg.1_Silent_p.V124V|CHRND_uc010fyc.2_Missense_Mutation_p.C49F|CHRND_uc010zmh.1_Missense_Mutation_p.C49F NM_000751 NP_000742 Q07001 ACHD_HUMAN nicotinic acetylcholine receptor delta 139 Extracellular (Potential). muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1)|breast(1)|skin(1) 3 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) ACGGCTTCGTGTACTGGCTGC 0.577 NA 95 102 8.26238e-36 1.50197e-35 0.00361 1 0 CHRND 1144 broad.mit.edu 37 2 233393335 233393335 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:233393335T>A uc002vsw.2 + 5 482 c.478T>A c.(478-480)TTC>ATC p.F160I CHRND_uc010zmg.1_Missense_Mutation_p.F145I|CHRND_uc010fyc.2_Silent_p.P69P|CHRND_uc010zmh.1_Silent_p.P69P NM_000751 NP_000742 Q07001 ACHD_HUMAN nicotinic acetylcholine receptor delta 160 Extracellular (Potential). muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1)|breast(1)|skin(1) 3 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) CTATTTCCCCTTCGACTGGCA 0.577 NA 17 103 0 0 0.00278 0 0 NGEF 25791 broad.mit.edu 37 2 233791856 233791857 + Nonsense_Mutation DNP CC CC AA TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:233791856_233791857CC>AA uc002vts.2 - 4 671_672 c.423_424GG>TT c.(421-426)GAGGAG>GATTAG p.141_142EE>D* NGEF_uc010fyg.1_Nonsense_Mutation_p.49_50EE>D*|NGEF_uc002vtt.2_Nonsense_Mutation_p.49_50EE>D* NM_019850 NP_062824 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 141_142 Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3)|skin(1) 7 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) GCCGGCCACTCCTCGGGCGTGG 0.629 NA 10 48 0 0 0.004672 0 0 NGEF 25791 broad.mit.edu 37 2 233839474 233839474 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:233839474G>C uc002vts.2 - 2 375 c.127C>G c.(127-129)CAA>GAA p.Q43E NM_019850 NP_062824 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 43 Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3)|skin(1) 7 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) TGGTCAGCTTGAGAAGTCTCC 0.443 NA 21 80 0 0 0.001882 0 0 ATG16L1 55054 broad.mit.edu 37 2 234191392 234191392 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:234191392G>C uc002vty.2 + 12 1453 c.1196G>C c.(1195-1197)CGA>CCA p.R399P ATG16L1_uc002vtx.1_Missense_Mutation_p.R236P|ATG16L1_uc002vua.2_Missense_Mutation_p.R380P|ATG16L1_uc002vub.2_Missense_Mutation_p.R257P|ATG16L1_uc002vtz.2_Missense_Mutation_p.R220P|ATG16L1_uc002vud.3_Missense_Mutation_p.R315P NM_030803 NP_110430 Q676U5 A16L1_HUMAN APG16 autophagy 16-like isoform 1 399 WD 2. autophagic vacuole assembly|protein homooligomerization|protein transport autophagic vacuole|pre-autophagosomal structure membrane protein binding 0 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539) Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11) GATGATTATCGATTACGGGTA 0.413 NA 39 30 0 0 0.002852 0 0 UGT1A8 54576 broad.mit.edu 37 2 234526798 234526799 + Missense_Mutation DNP CC CC AA TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:234526798_234526799CC>AA uc002vup.2 + 1 508_509 c.445_446CC>AA c.(445-447)CCT>AAT p.P149N UGT1A8_uc010zmv.1_Missense_Mutation_p.P149N NM_019076 NP_061949 Q9HAW9 UD18_HUMAN UDP glycosyltransferase 1 family, polypeptide A8 149 drug metabolic process|fatty acid metabolic process|flavone metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme inhibitor activity|fatty acid binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|steroid binding ovary(2) 2 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008) GTTTCTTGATCCTTTTGATGCC 0.396 NA 21 102 0 0 0.004672 0 0 TRPM8 79054 broad.mit.edu 37 2 234878934 234878934 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:234878934G>T uc002vvh.2 + 17 2259 c.2219G>T c.(2218-2220)TGG>TTG p.W740L TRPM8_uc010fyj.2_Intron NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, 740 Helical; Name=2; (Potential). integral to membrane skin(4) 4 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) GTCTTCTCCTGGAATGTGGTC 0.552 NA 142 150 3.38734e-80 6.35982e-80 0.00361 1 0 ASB18 401036 broad.mit.edu 37 2 237172851 237172851 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:237172851C>T uc010znh.1 - 1 138 c.138G>A c.(136-138)GTG>GTA p.V46V NM_212556 NP_997721 Q6ZVZ8 ASB18_HUMAN ankyrin repeat and SOCS box-containing 18 46 intracellular signal transduction ovary(1) 1 all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244) CCAGTTCTATCACAGCGTCCA 0.512 NA 8 35 0 0 0.00308 0 0 COL6A3 1293 broad.mit.edu 37 2 238244935 238244935 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:238244935C>A uc002vwl.2 - 40 9093 c.8808G>T c.(8806-8808)GTG>GTT p.V2936V COL6A3_uc002vwo.2_Silent_p.V2730V|COL6A3_uc010znj.1_Silent_p.V2329V|COL6A3_uc002vwj.2_Silent_p.V317V NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 2936 Nonhelical region.|Ala-rich. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TTGCTGGCTTCACCGCCACTG 0.627 NA 35 41 1.60099e-16 2.55436e-16 0.004878 1 0 KIF1A 547 broad.mit.edu 37 2 241715308 241715308 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:241715308G>A uc002vzy.2 - 11 1064 c.918C>T c.(916-918)TAC>TAT p.Y306Y KIF1A_uc010fzk.2_Silent_p.Y306Y|KIF1A_uc002vzz.1_Silent_p.Y306Y NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 306 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CGGAATCTCGGTACGGAATGA 0.567 NA 3 48 0 0 0.009096 0 0 PASK 23178 broad.mit.edu 37 2 242066662 242066662 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:242066662C>G uc002wao.1 - 10 1760 c.1668G>C c.(1666-1668)GAG>GAC p.E556D PASK_uc010zol.1_Missense_Mutation_p.E370D|PASK_uc010zom.1_Missense_Mutation_p.E521D|PASK_uc010fzl.1_Missense_Mutation_p.E556D|PASK_uc010zon.1_Missense_Mutation_p.E337D|PASK_uc002wap.2_Missense_Mutation_p.E99D|PASK_uc002waq.2_Missense_Mutation_p.E556D NM_015148 NP_055963 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 556 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity ovary(4)|lung(1)|skin(1) 6 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) TGCCCCCATCCTCAGCTGGGA 0.587 NA 23 172 0 0 0.003954 0 0 ANO7 50636 broad.mit.edu 37 2 242155594 242155594 + Nonsense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:242155594G>A uc002wax.2 + 19 2178 c.2075G>A c.(2074-2076)TGG>TAG p.W692* NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 692 Extracellular (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 CAGGGGCCCTGGGAGGACGAC 0.617 NA 3 15 0 0 0.004672 0 0 THAP4 51078 broad.mit.edu 37 2 242573057 242573058 + Missense_Mutation DNP TC TC AA TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 TC TC - - TC TC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:242573057_242573058TC>AA uc002wbt.2 - 2 737_738 c.514_515GA>TT c.(514-516)GAA>TTA p.E172L NM_015963 NP_057047 Q8WY91 THAP4_HUMAN THAP domain containing 4 isoform 1 172 DNA binding|metal ion binding 0 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) TGGAGTCCGTTCCAGAGCTTGC 0.644 NA 8 27 0 0 0.004672 0 0 SIRPB2 284759 broad.mit.edu 37 20 1457984 1457984 + Silent SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:1457984T>A uc002wfg.2 - 4 1086 c.858A>T c.(856-858)ACA>ACT p.T286T SIRPB2_uc002wfh.3_Silent_p.T188T|SIRPB2_uc010zpr.1_Silent_p.T148T NM_001122962 NP_001116434 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 isoform 1 286 Extracellular (Potential). integral to membrane 0 TACGCTCACCTGTTGGAGACA 0.537 NA 45 59 0 0 0.00361 0 0 OXT 5020 broad.mit.edu 37 20 3052344 3052344 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:3052344G>A uc002wht.1 + 1 79 c.43G>A c.(43-45)GCG>ACG p.A15T NM_000915 NP_000906 P01178 NEU1_HUMAN oxytocin-neurophysin I preproprotein 15 signal transduction neurohypophyseal hormone activity 0 Oxytocin(DB00107) CGGCCTCCTGGCGCTGACCTC 0.721 NA 5 3 0 0 0.000602 0 0 PLCB1 23236 broad.mit.edu 37 20 8637874 8637874 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:8637874G>T uc002wnb.2 + 8 641 c.638G>T c.(637-639)AGA>ATA p.R213I PLCB1_uc010zrb.1_Missense_Mutation_p.R112I|PLCB1_uc002wna.2_Missense_Mutation_p.R213I|PLCB1_uc002wnc.1_Missense_Mutation_p.R112I NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 213 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 GAAGTGTACAGAGTTTTCCTC 0.323 NA 22 39 7.76418e-22 1.31646e-21 0.005443 1 0 PAK7 57144 broad.mit.edu 37 20 9560828 9560828 + Nonsense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:9560828G>T uc002wnl.2 - 5 1499 c.954C>A c.(952-954)TAC>TAA p.Y318* PAK7_uc002wnk.2_Nonsense_Mutation_p.Y318*|PAK7_uc002wnj.2_Nonsense_Mutation_p.Y318*|PAK7_uc010gby.1_Nonsense_Mutation_p.Y318* NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 318 Linker. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) ACAAGCGAGGGTAGGTGTAGG 0.547 NA 60 76 1.64915e-30 2.92986e-30 0.00361 1 0 SEL1L2 80343 broad.mit.edu 37 20 13894500 13894500 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:13894500G>T uc010gcf.2 - 5 559 c.477C>A c.(475-477)GGC>GGA p.G159G SEL1L2_uc002woq.3_Silent_p.G20G|SEL1L2_uc010zrl.1_Silent_p.G159G|SEL1L2_uc002wor.2_RNA NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 159 Extracellular (Potential).|Sel1-like 2. integral to membrane binding ovary(2) 2 TATTTTGCACGCCAAAATTTC 0.393 NA 19 16 2.94398e-08 3.84684e-08 0.007413 1 0 INSM1 3642 broad.mit.edu 37 20 20349229 20349229 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:20349229G>A uc002wrx.2 + 1 465 c.318G>A c.(316-318)GTG>GTA p.V106V NM_002196 NP_002187 Q01101 INSM1_HUMAN insulinoma-associated 1 106 Ala/Gly/Pro-rich. endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0649) CGCGGCCCGTGAGCCGCGAGC 0.726 NA 6 3 0 0 0.001984 0 0 REM1 28954 broad.mit.edu 37 20 30064329 30064329 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:30064329C>A uc002wwa.2 + 2 365 c.81C>A c.(79-81)GGC>GGA p.G27G NM_014012 NP_054731 O75628 REM1_HUMAN RAS-like GTP-binding protein REM 27 small GTPase mediated signal transduction membrane calmodulin binding|GTP binding|GTPase activity lung(2)|pancreas(2) 4 all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CCCCACGGGGCCACCAGCCTG 0.647 NA 18 51 4.96729e-08 6.42292e-08 0.008871 1 0 DNMT3B 1789 broad.mit.edu 37 20 31390254 31390254 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:31390254G>T uc002wyc.2 + 20 2530 c.2209G>T c.(2209-2211)GGC>TGC p.G737C DNMT3B_uc002wyd.2_Missense_Mutation_p.G717C|DNMT3B_uc002wye.2_Missense_Mutation_p.G717C|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.G675C|DNMT3B_uc010zua.1_Missense_Mutation_p.G641C|DNMT3B_uc002wyf.2_Missense_Mutation_p.G729C|DNMT3B_uc002wyg.2_Missense_Mutation_p.G436C|DNMT3B_uc010geg.2_Missense_Mutation_p.G36C|DNMT3B_uc010geh.2_RNA NM_006892 NP_008823 Q9UBC3 DNM3B_HUMAN DNA cytosine-5 methyltransferase 3 beta isoform 737 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity lung(3)|ovary(2) 5 ATACTTCTGGGGCAACCTACC 0.468 NA 40 79 1.00776e-21 1.70288e-21 0.00361 1 0 C20orf186 149954 broad.mit.edu 37 20 31685484 31685484 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:31685484C>A uc010zue.1 + 11 1475 c.1460C>A c.(1459-1461)CCA>CAA p.P487Q NM_182519 NP_872325 P59827 LPLC4_HUMAN antimicrobial peptide RY2G5 precursor 487 cytoplasm|extracellular region lipid binding 0 CTGAACCCACCATCTGTGATG 0.592 NA 37 92 1.66425e-11 2.38414e-11 0.004878 1 0 PLUNC 51297 broad.mit.edu 37 20 31825642 31825642 + Nonsense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:31825642T>A uc002wyv.2 + 2 195 c.125T>A c.(124-126)TTG>TAG p.L42* PLUNC_uc002wyt.3_Nonsense_Mutation_p.L42*|PLUNC_uc002wyu.3_Nonsense_Mutation_p.L42* NM_130852 NP_570913 Q9NP55 PLUNC_HUMAN palate, lung and nasal epithelium associated 42 innate immune response extracellular region lipid binding 0 GCCCTGCCCTTGAGTCCCACA 0.438 NA 26 79 0 0 0.002096 0 0 C20orf114 92747 broad.mit.edu 37 20 31887734 31887734 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:31887734G>A uc002wyw.1 + 8 852 c.691G>A c.(691-693)GAG>AAG p.E231K C20orf114_uc002wyx.1_5'Flank NM_033197 NP_149974 Q8TDL5 LPLC1_HUMAN LPLUNC1 protein precursor 231 extracellular space lipid binding central_nervous_system(2)|skin(2) 4 TGACCGTCTGGAGTTTGACCT 0.557 NA OREG0025869 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 72 0 0 0.002836 0 0 PHF20 51230 broad.mit.edu 37 20 34519296 34519296 + Nonsense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:34519296C>T uc002xek.1 + 15 2341 c.2230C>T c.(2230-2232)CAG>TAG p.Q744* NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN PHD finger protein 20 744 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding ovary(1) 1 Breast(12;0.00631)|all_lung(11;0.0145) GGCCACCCACCAGCTTCTTGG 0.527 NA 14 52 0 0 0.00499 0 0 C20orf117 140710 broad.mit.edu 37 20 35434280 35434280 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:35434280C>A uc002xgd.1 - 9 2508 c.2181G>T c.(2179-2181)ACG>ACT p.T727T C20orf117_uc002xge.1_RNA NM_199181 NP_954650 O94964 K0889_HUMAN hypothetical protein LOC140710 isoform 2 727 0 Myeloproliferative disorder(115;0.00874) AGCTGTCCCCCGTGCAGGCCT 0.493 NA 6 19 0.000157383 0.000177026 0.00308 1 0 RALGAPB 57148 broad.mit.edu 37 20 37146502 37146502 + Missense_Mutation SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:37146502A>G uc002xiw.2 + 9 1533 c.1276A>G c.(1276-1278)AGT>GGT p.S426G RALGAPB_uc010zvz.1_Missense_Mutation_p.S426G|RALGAPB_uc002xix.2_Missense_Mutation_p.S426G|RALGAPB_uc002xiy.1_Missense_Mutation_p.S426G|RALGAPB_uc002xiz.2_Missense_Mutation_p.S204G|RALGAPB_uc002xja.1_Missense_Mutation_p.S153G NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 426 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 AAATCAGACTAGTTCAGAACC 0.473 NA 11 59 0 0 0.001855 0 0 L3MBTL 26013 broad.mit.edu 37 20 42157977 42157977 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:42157977C>T uc010zwh.1 + 9 1005 c.959C>T c.(958-960)CCG>CTG p.P320L L3MBTL_uc002xkl.2_Missense_Mutation_p.P252L|L3MBTL_uc002xkm.2_Missense_Mutation_p.P252L|L3MBTL_uc010ggl.2_Missense_Mutation_p.P252L|L3MBTL_uc002xkn.1_Missense_Mutation_p.P11L|L3MBTL_uc002xko.2_5'Flank NM_015478 NP_056293 Q9Y468 LMBL1_HUMAN l(3)mbt-like isoform I 252 MBT 1. chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CCTCAACACCCGTCCATGTAC 0.502 NA 8 19 0 0 0.008291 0 0 KCNS1 3787 broad.mit.edu 37 20 43723683 43723683 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:43723683A>T uc002xnc.2 - 5 1806 c.1409T>A c.(1408-1410)CTG>CAG p.L470Q KCNS1_uc002xnd.2_Missense_Mutation_p.L470Q NM_002251 NP_002242 Q96KK3 KCNS1_HUMAN potassium voltage-gated channel 470 Cytoplasmic (Potential). voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding 0 Myeloproliferative disorder(115;0.0122) GGCTGCCTCCAGAGCCTTCTG 0.582 NA 28 107 0 0 0.002096 0 0 SLC12A5 57468 broad.mit.edu 37 20 44673655 44673655 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:44673655C>A uc010zxl.1 + 12 1590 c.1514C>A c.(1513-1515)CCA>CAA p.P505Q SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.P482Q NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 505 Helical; (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CTGGCCTGGCCATCTCCATGG 0.607 NA 64 133 3.79363e-24 6.54424e-24 0.00361 1 0 SULF2 55959 broad.mit.edu 37 20 46365579 46365579 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:46365579T>A uc002xto.2 - 3 613 c.283A>T c.(283-285)ATC>TTC p.I95F SULF2_uc002xtr.2_Missense_Mutation_p.I95F|SULF2_uc002xtq.2_Missense_Mutation_p.I95F|SULF2_uc010ghv.1_Missense_Mutation_p.I95F NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN sulfatase 2 isoform a precursor 95 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 CCAGTGAGGATGGAGGAGCGT 0.607 NA 15 46 0 0 0.00632 0 0 KCNB1 3745 broad.mit.edu 37 20 47990535 47990535 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:47990535G>T uc002xur.1 - 2 1726 c.1562C>A c.(1561-1563)CCT>CAT p.P521H KCNB1_uc002xus.1_Missense_Mutation_p.P521H NM_004975 NP_004966 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related 521 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CAGGTGCTGAGGACTAGAAGA 0.483 NA 54 169 4.46356e-37 8.12401e-37 0.00361 1 0 PTGIS 5740 broad.mit.edu 37 20 48140725 48140725 + Missense_Mutation SNP G G T rs141132754 byFrequency TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:48140725G>T uc002xut.2 - 6 779 c.725C>A c.(724-726)TCC>TAC p.S242Y PTGIS_uc010zyi.1_Missense_Mutation_p.S103Y NM_000961 NP_000952 Q16647 PTGIS_HUMAN prostaglandin I2 synthase 242 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) CCTGGCTGGGGATAGCAGCTT 0.602 NA 34 85 1.49673e-21 2.5234e-21 0.00623 1 0 CBLN4 140689 broad.mit.edu 37 20 54579045 54579045 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:54579045C>A uc002xxa.2 - 1 968 c.183G>T c.(181-183)GGG>GGT p.G61G NM_080617 NP_542184 Q9NTU7 CBLN4_HUMAN cerebellin 4 precursor 61 cell junction|extracellular region|synapse ovary(3)|pancreas(1) 4 Colorectal(105;0.202) GGACCGATATCCCCAGCGGGG 0.632 NA 25 44 9.57634e-11 1.3434e-10 0.00333 1 0 MC3R 4159 broad.mit.edu 37 20 54824378 54824378 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:54824378A>T uc002xxb.2 + 1 591 c.479A>T c.(478-480)AAG>ATG p.K160M NM_019888 NP_063941 P41968 MC3R_HUMAN melanocortin 3 receptor 197 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding ovary(2)|breast(2) 4 Colorectal(105;0.202) ACCGTGAGGAAGGCCCTCACC 0.587 NA 32 84 0 0 0.003755 0 0 TH1L 51497 broad.mit.edu 37 20 57566480 57566480 + Silent SNP C C T rs143108259 byFrequency TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:57566480C>T uc002yag.2 + 9 1122 c.1095C>T c.(1093-1095)AGC>AGT p.S365S TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Silent_p.S365S NM_198976 NP_945327 Q8IXH7 NELFD_HUMAN TH1-like protein 365 negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_lung(29;0.00711) Colorectal(105;0.109) ACGCAGCAAGCGTGGTTGAGA 0.458 NA 12 61 0 0 0.000978 0 0 ZNF831 128611 broad.mit.edu 37 20 57769446 57769446 + Silent SNP G G T rs150212573 by1000genomes TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:57769446G>T uc002yan.2 + 1 3372 c.3372G>T c.(3370-3372)CCG>CCT p.P1124P NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1124 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) GCCCCGACCCGTGTTCCCCCC 0.667 NA 11 30 4.36969e-10 6.03318e-10 0.001855 1 0 CDH4 1002 broad.mit.edu 37 20 60508126 60508126 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:60508126G>A uc002ybn.1 + 14 2337 c.2323G>A c.(2323-2325)GAC>AAC p.D775N CDH4_uc002ybp.1_Missense_Mutation_p.D701N NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 775 Cytoplasmic (Potential). adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CCCCGAGGACGACGTCCGCGA 0.662 NA 29 56 0 0 0.004878 0 0 SLC17A9 63910 broad.mit.edu 37 20 61598070 61598070 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:61598070C>T uc002yea.3 + 12 1317 c.1133C>T c.(1132-1134)GCC>GTC p.A378V SLC17A9_uc002ydz.3_Missense_Mutation_p.A372V|SLC17A9_uc011aap.1_Missense_Mutation_p.A398V NM_022082 NP_071365 Q9BYT1 S17A9_HUMAN vesicular nucleotide transporter SLC17A9 378 Helical; (Potential). exocytosis|transmembrane transport integral to membrane transporter activity ovary(1)|skin(1) 2 GCCAACACAGCCGGGGCCTTG 0.662 NA 28 65 0 0 0.002445 0 0 GMEB2 26205 broad.mit.edu 37 20 62223416 62223416 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:62223416T>A uc002yfp.1 - 8 1390 c.911A>T c.(910-912)CAG>CTG p.Q304L GMEB2_uc002yfo.1_Missense_Mutation_p.Q226L|GMEB2_uc002yfq.1_Missense_Mutation_p.Q304L NM_012384 NP_036516 Q9UKD1 GMEB2_HUMAN glucocorticoid modulatory element binding 304 Potential. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|metal ion binding 0 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) GCGGTCCATCTGGCACTTGTG 0.622 NA 26 51 0 0 0.007291 0 0 RTEL1 51750 broad.mit.edu 37 20 62321784 62321784 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:62321784G>C uc002yfu.1 + 26 2746 c.2403G>C c.(2401-2403)CAG>CAC p.Q801H RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Missense_Mutation_p.Q801H|RTEL1_uc011abd.1_Missense_Mutation_p.Q825H|RTEL1_uc011abe.1_Missense_Mutation_p.Q578H|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_Missense_Mutation_p.Q46H NM_016434 NP_057518 Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 801 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding 0 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) GCCTGAAGCAGAGGTCCTCAG 0.697 NA 13 30 0 0 0.004007 0 0 TPTE 7179 broad.mit.edu 37 21 10969100 10969100 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr21:10969100C>T uc002yip.1 - 7 516 c.148G>A c.(148-150)GCC>ACC p.A50T TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Intron|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 50 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GACACCCGGGCTGCTCCTTTA 0.328 NA 25 134 0 0 0.008361 0 0 KRTAP19-2 337969 broad.mit.edu 37 21 31859618 31859618 + Missense_Mutation SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr21:31859618T>C uc011acy.1 - 1 50 c.50A>G c.(49-51)TAT>TGT p.Y17C NM_181608 NP_853639 Q3LHN2 KR192_HUMAN keratin associated protein 19-2 17 intermediate filament 0 GCCGCAGCCATAGCCCAGTCT 0.557 NA 5 190 0 0 0.001168 0 0 TIAM1 7074 broad.mit.edu 37 21 32598231 32598231 + Silent SNP G G T rs143707356 byFrequency TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr21:32598231G>T uc002yow.1 - 8 2092 c.1620C>A c.(1618-1620)ACC>ACA p.T540T TIAM1_uc011adk.1_Silent_p.T540T|TIAM1_uc011adl.1_Silent_p.T540T|TIAM1_uc002yox.1_Silent_p.T148T NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 540 PH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 AGTGGATGGCGGTGATCCAGT 0.527 NA 12 20 2.61681e-11 3.72008e-11 0.00245 1 0 MORC3 23515 broad.mit.edu 37 21 37713755 37713755 + Nonsense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr21:37713755G>T uc002yvi.2 + 6 743 c.667G>T c.(667-669)GAG>TAG p.E223* NM_015358 NP_056173 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 223 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding ovary(2) 2 CAGAATTCCCGAGGATTTAGA 0.368 NA 13 25 0.000151284 0.000170553 0.001855 1 0 UBASH3A 53347 broad.mit.edu 37 21 43833560 43833560 + Nonsense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr21:43833560G>T uc002zbe.2 + 5 631 c.595G>T c.(595-597)GGA>TGA p.G199* UBASH3A_uc002zbf.2_Intron|UBASH3A_uc010gpc.2_Intron|UBASH3A_uc010gpd.2_Intron|UBASH3A_uc010gpe.2_Intron NM_018961 NP_061834 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing, 199 cytosol|nucleus ovary(3) 3 CCAGGTGCCTGGACATGGCCC 0.552 NA 13 15 3.41278e-10 4.72955e-10 0.00499 1 0 POTEH 23784 broad.mit.edu 37 22 16287778 16287778 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr22:16287778C>T uc010gqp.2 - 1 160 c.108G>A c.(106-108)AGG>AGA p.R36R POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN ANKRD26-like family C, member 3 36 skin(1) 1 TGCCGCTCCCCCTGCACCAGG 0.587 NA 60 48 0 0 0.00361 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072823 17072823 + Nonsense_Mutation SNP G G T rs137862002 TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr22:17072823G>T uc002zlp.1 - 1 878 c.618C>A c.(616-618)TGC>TGA p.C206* NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 206 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CGGGCAGCGCGCACACCCCAA 0.617 NA 16 70 2.35188e-11 3.34985e-11 0.006122 1 0 DGCR14 8220 broad.mit.edu 37 22 19121734 19121734 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr22:19121734C>A uc002zou.2 - 10 1443 c.1406G>T c.(1405-1407)CGG>CTG p.R469L DGCR14_uc002zot.2_Missense_Mutation_p.R390L|DGCR14_uc002zov.2_RNA NM_022719 NP_073210 Q96DF8 DGC14_HUMAN DiGeorge syndrome critical region protein 14 469 nervous system development catalytic step 2 spliceosome ovary(1) 1 Colorectal(54;0.0993) AGCTTTGCGCCGGGCAGGGAG 0.647 NA 7 25 0.000274275 0.000304364 0.004482 1 0 HIRA 7290 broad.mit.edu 37 22 19379649 19379649 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr22:19379649C>A uc002zpf.1 - 9 1131 c.911G>T c.(910-912)AGC>ATC p.S304I HIRA_uc011agx.1_Missense_Mutation_p.S170I|HIRA_uc010grn.1_Missense_Mutation_p.S304I|HIRA_uc010gro.1_Missense_Mutation_p.S260I|HIRA_uc010grp.2_RNA NM_003325 NP_003316 P54198 HIRA_HUMAN HIR histone cell cycle regulation defective 304 WD 6. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Colorectal(54;0.0993) GCGGTCCTTGCTGCCAACAGC 0.493 NA 14 33 4.7546e-09 6.35229e-09 0.004007 1 0 MMP11 4320 broad.mit.edu 37 22 24124584 24124584 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr22:24124584G>A uc002zxx.2 + 7 1269 c.1247G>A c.(1246-1248)CGG>CAG p.R416Q MMP11_uc002zxy.2_RNA|MMP11_uc002zxz.2_RNA NM_005940 NP_005931 P24347 MMP11_HUMAN matrix metalloproteinase 11 preproprotein 416 Hemopexin-like 3. collagen catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(2)|large_intestine(1) 3 Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318) CCCAGCACCCGGCGTGTAGAC 0.632 NA 7 31 0 0 0.001984 0 0 MYO18B 84700 broad.mit.edu 37 22 26224872 26224872 + Silent SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr22:26224872T>C uc003abz.1 + 15 3166 c.2916T>C c.(2914-2916)CAT>CAC p.H972H MYO18B_uc003aca.1_Silent_p.H853H|MYO18B_uc010guy.1_Silent_p.H853H|MYO18B_uc010guz.1_Silent_p.H853H|MYO18B_uc011aka.1_Silent_p.H126H|MYO18B_uc011akb.1_Silent_p.H485H NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 972 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 ACTACGCCCATGAGCGCCTGC 0.617 NA 13 18 0 0 0.003163 0 0 MYO18B 84700 broad.mit.edu 37 22 26351286 26351286 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr22:26351286C>A uc003abz.1 + 39 6362 c.6112C>A c.(6112-6114)CTG>ATG p.L2038M MYO18B_uc003aca.1_Missense_Mutation_p.L1919M|MYO18B_uc010guy.1_Missense_Mutation_p.L1920M|MYO18B_uc010guz.1_Missense_Mutation_p.L1918M|MYO18B_uc011aka.1_Missense_Mutation_p.L1192M|MYO18B_uc011akb.1_Missense_Mutation_p.L1551M|MYO18B_uc010gva.1_Missense_Mutation_p.L36M NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2038 Tail.|Potential. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 CATGGAAGAGCTGGTGCAGCG 0.637 NA 12 27 3.45872e-05 3.9962e-05 0.004007 1 0 SEZ6L 23544 broad.mit.edu 37 22 26701954 26701954 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr22:26701954G>A uc003acb.2 + 6 1514 c.1358G>A c.(1357-1359)GGA>GAA p.G453E SEZ6L_uc003acc.2_Missense_Mutation_p.G453E|SEZ6L_uc011akc.1_Missense_Mutation_p.G453E|SEZ6L_uc003acd.2_Missense_Mutation_p.G453E|SEZ6L_uc011akd.1_Missense_Mutation_p.G453E|SEZ6L_uc003ace.2_Missense_Mutation_p.G453E|SEZ6L_uc003acf.1_Missense_Mutation_p.G226E|SEZ6L_uc010gvc.1_Missense_Mutation_p.G226E NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 453 CUB 2.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 GCTCCTTGTGGAGGGGCAGTG 0.393 NA 18 59 0 0 0.010504 0 0 RFPL3 10738 broad.mit.edu 37 22 32756382 32756382 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr22:32756382C>A uc003amj.2 + 2 722 c.517C>A c.(517-519)CCT>ACT p.P173T RFPL3_uc010gwn.2_Missense_Mutation_p.P144T|RFPL3S_uc003amk.2_RNA|RFPL3S_uc003aml.2_RNA NM_001098535 NP_001092005 O75679 RFPL3_HUMAN ret finger protein-like 3 isoform 1 173 B30.2/SPRY. zinc ion binding ovary(1) 1 CCTGGGCTCCCCTCGCTTTAC 0.562 NA 32 63 8.16904e-11 1.15141e-10 0.007835 1 0 LARGE 9215 broad.mit.edu 37 22 33733749 33733749 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr22:33733749C>T uc003and.3 - 11 1749 c.1170G>A c.(1168-1170)AAG>AAA p.K390K LARGE_uc011amd.1_Silent_p.K189K|LARGE_uc003ane.3_Silent_p.K390K|LARGE_uc010gwp.2_Intron|LARGE_uc011ame.1_Silent_p.K322K|LARGE_uc011amf.1_Silent_p.K390K|LARGE_uc010gwq.1_RNA NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 390 Lumenal (Potential). glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) CATGCTTGTTCTTCACCCGGA 0.562 Colon(70;397 1175 4573 19089 45288) NA 11 45 0 0 0.001368 0 0 RAC2 5880 broad.mit.edu 37 22 37622726 37622726 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr22:37622726C>G uc003arc.2 - 6 683 c.566G>C c.(565-567)TGC>TCC p.C189S NM_002872 NP_002863 P15153 RAC2_HUMAN ras-related C3 botulinum toxin substrate 2 189 C->W: Abolishes in vitro prenylation. axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|protein binding breast(2)|central_nervous_system(1)|skin(1) 4 GAGGAGGCTGCAGGCGCGCTT 0.632 NA 8 20 0 0 0.00308 0 0 TRIOBP 11078 broad.mit.edu 37 22 38109231 38109231 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr22:38109231C>T uc003atr.2 + 5 540 c.269C>T c.(268-270)TCA>TTA p.S90L TRIOBP_uc003atu.2_Intron|TRIOBP_uc003atq.1_Missense_Mutation_p.S90L|TRIOBP_uc003ats.1_Intron NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 90 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) CCATCCCCCTCAGCAGGGCTC 0.622 NA 5 10 0 0 0.000602 0 0 TRIOBP 11078 broad.mit.edu 37 22 38111769 38111769 + Splice_Site SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr22:38111769G>T uc003atr.2 + 6 728 c.457_splice c.e6-1 p.D153_splice TRIOBP_uc003atu.2_Splice_Site|TRIOBP_uc003atq.1_Splice_Site_p.D153_splice|TRIOBP_uc003ats.1_Splice_Site NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) TTCTCTGGCAGGACTGGGACA 0.587 NA 7 21 4.68919e-08 6.0898e-08 0.008291 1 0 KCNJ4 3761 broad.mit.edu 37 22 38823370 38823370 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr22:38823370C>A uc003avs.1 - 2 865 c.768G>T c.(766-768)GTG>GTT p.V256V KCNJ4_uc003avt.1_Silent_p.V256V NM_004981 NP_004972 P48050 IRK4_HUMAN potassium inwardly-rectifying channel J4 256 Cytoplasmic (By similarity). synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding 0 Melanoma(58;0.0286) TGATGGGCGACACCAGGAAGA 0.597 NA 22 36 2.24059e-21 3.76471e-21 0.00632 1 0 MGAT3 4248 broad.mit.edu 37 22 39883551 39883551 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr22:39883551C>T uc003axv.3 + 2 438 c.199C>T c.(199-201)CCT>TCT p.P67S MGAT3_uc010gxy.2_Missense_Mutation_p.P67S NM_002409 NP_002400 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein 67 Lumenal (Potential).|Pro-rich. post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity 0 Melanoma(58;0.04) GCCAGGAGGCCCTGACCTGCT 0.682 NA 31 58 0 0 0.002096 0 0 TEF 7008 broad.mit.edu 37 22 41783641 41783641 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr22:41783641C>T uc003azy.2 + 2 530 c.444C>T c.(442-444)ATC>ATT p.I148I TEF_uc003azx.2_Silent_p.I118I|TEF_uc011apa.1_Silent_p.I153I NM_003216 NP_003207 Q10587 TEF_HUMAN thyrotrophic embryonic factor isoform 1 148 rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CCACTGCCATCTTTCAGCCCT 0.602 NA 8 21 0 0 0.004482 0 0 ARFGAP3 26286 broad.mit.edu 37 22 43203164 43203164 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr22:43203164C>G uc003bdd.2 - 14 1546 c.1326G>C c.(1324-1326)GAG>GAC p.E442D ARFGAP3_uc010gzf.2_Missense_Mutation_p.E398D NM_014570 NP_055385 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating 442 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(1) 1 GGGCCCTGGTCTCATACTAGA 0.502 GBM(58;544 1030 21460 27159 48838) NA 4 12 0 0 0.009096 0 0 SCUBE1 80274 broad.mit.edu 37 22 43687139 43687139 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr22:43687139C>A uc003bdt.1 - 4 485 c.397G>T c.(397-399)GTC>TTC p.V133F SCUBE1_uc003bdu.1_Missense_Mutation_p.V133F NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 133 EGF-like 3; calcium-binding (Potential). adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_neural(38;0.0414)|Ovarian(80;0.07) ATGGCATTGACGCAGATCTGC 0.527 NA 15 32 1.50039e-11 2.15148e-11 0.001882 1 0 UPK3A 7380 broad.mit.edu 37 22 45683165 45683165 + Silent SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr22:45683165G>C uc003bfy.2 + 3 327 c.321G>C c.(319-321)CTG>CTC p.L107L UPK3A_uc010gzy.2_Intron NM_006953 NP_008884 O75631 UPK3A_HUMAN uroplakin 3A precursor 107 Lumenal (Potential). epithelial cell differentiation endoplasmic reticulum membrane|integral to membrane 0 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) CCTTTGACCTGATCCCCTGCA 0.587 NA 12 44 0 0 0.00245 0 0 FBLN1 2192 broad.mit.edu 37 22 45944613 45944613 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr22:45944613G>A uc003bgj.1 + 13 1709 c.1562G>A c.(1561-1563)CGC>CAC p.R521H FBLN1_uc003bgg.1_Missense_Mutation_p.R521H|FBLN1_uc003bgh.2_Missense_Mutation_p.R521H|FBLN1_uc010gzz.2_Missense_Mutation_p.R559H|FBLN1_uc003bgi.1_Missense_Mutation_p.R521H NM_006486 NP_006477 P23142 FBLN1_HUMAN fibulin 1 isoform D 521 EGF-like 8; calcium-binding. R -> S (in Ref. 6; AAH22497). interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CCCAATGGCCGCAACTGCCAA 0.672 NA 3 59 0 0 0.000602 0 0 PKDREJ 10343 broad.mit.edu 37 22 46652574 46652574 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr22:46652574C>T uc003bhh.2 - 1 6646 c.6646G>A c.(6646-6648)GAG>AAG p.E2216K NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 2216 Cytoplasmic (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) AACTCAGGCTCATCTTTGGCC 0.478 NA 14 38 0 0 0.003163 0 0 THRB 7068 broad.mit.edu 37 3 24174822 24174822 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:24174822C>T uc003ccx.3 - 9 1219 c.870G>A c.(868-870)TTG>TTA p.L290L THRB_uc010hfe.2_Silent_p.L290L|THRB_uc003ccy.3_Silent_p.L290L|THRB_uc003ccz.3_Silent_p.L285L NM_001128176 NP_001121648 P10828 THB_HUMAN thyroid hormone receptor, beta 290 Ligand-binding.|Interaction with NR2F6. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding skin(2)|pancreas(1) 3 Levothyroxine(DB00451)|Liothyronine(DB00279) AAAACATAGGCAACTTTTTGG 0.373 Melanoma(21;896 1043 15021 37958) NA 9 23 0 0 0.000978 0 0 EOMES 8320 broad.mit.edu 37 3 27760974 27760974 + Splice_Site SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:27760974T>C uc003cdx.2 - 3 1037 c.1037_splice c.e3-1 p.G346_splice EOMES_uc003cdy.3_Splice_Site_p.G346_splice|EOMES_uc010hfn.2_Splice_Site_p.G346_splice|EOMES_uc011axc.1_Splice_Site_p.G51_splice NM_005442 NP_005433 O95936 EOMES_HUMAN eomesodermin CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|breast(1) 4 TTTTGTTGCCTAAGAGAAAAT 0.398 NA 17 22 0 0 0.007413 0 0 ACVR2B 93 broad.mit.edu 37 3 38524706 38524706 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:38524706G>T uc003cif.2 + 11 1446 c.1422G>T c.(1420-1422)GTG>GTT p.V474V ACVR2B_uc003cig.2_Silent_p.V265V NM_001106 NP_001097 Q13705 AVR2B_HUMAN activin A receptor, type IIB precursor 474 Cytoplasmic (Potential).|Protein kinase. activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent cell surface|cytoplasm|integral to plasma membrane activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity lung(1) 1 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071) CGGGCTGTGTGGAGGAGCGGG 0.617 NA 22 59 9.57634e-11 1.3434e-10 0.00333 1 0 CX3CR1 1524 broad.mit.edu 37 3 39307287 39307287 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:39307287G>A uc003cjl.2 - 2 806 c.714C>T c.(712-714)ATC>ATT p.I238I NM_001337 NP_001328 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 238 Helical; Name=6; (Potential). cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity lung(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) GGAAAAACACGATGACCACCA 0.428 NA 9 25 0 0 0.004482 0 0 FYCO1 79443 broad.mit.edu 37 3 46008650 46008650 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:46008650G>A uc003cpb.3 - 8 2382 c.2176C>T c.(2176-2178)CGG>TGG p.R726W FYCO1_uc011bal.1_Missense_Mutation_p.R726W NM_024513 NP_078789 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 726 Potential. transport integral to membrane metal ion binding|protein binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) TCTCTGTGCCGGGCTTCTGCC 0.617 NA 3 71 0 0 0.009096 0 0 GLYCTK 132158 broad.mit.edu 37 3 52326349 52326349 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:52326349G>T uc003ddo.2 + 5 875 c.779G>T c.(778-780)AGT>ATT p.S260I GLYCTK_uc003ddq.2_Missense_Mutation_p.Q201H|GLYCTK_uc003ddm.2_RNA|GLYCTK_uc003ddn.2_Intron|GLYCTK_uc003ddp.1_Missense_Mutation_p.S260I|GLYCTK_uc003ddr.2_5'UTR NM_145262 NP_660305 Q8IVS8 GLCTK_HUMAN glycerate kinase isoform 1 260 protein phosphorylation Golgi apparatus|mitochondrion ATP binding|glycerate kinase activity|protein binding 0 BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235) ACCGTGGCCAGTTCCCACAAT 0.612 NA 15 19 4.14922e-12 6.06079e-12 0.004007 1 0 PBRM1 55193 broad.mit.edu 37 3 52623229 52623229 + Nonsense_Mutation SNP G G C rs141067977 by1000genomes TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:52623229G>C uc003des.2 - 18 2834 c.2822C>G c.(2821-2823)TCA>TGA p.S941* PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Nonsense_Mutation_p.S941*|PBRM1_uc003der.2_Nonsense_Mutation_p.S909*|PBRM1_uc003det.2_Nonsense_Mutation_p.S956*|PBRM1_uc003deu.2_Nonsense_Mutation_p.S956*|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Nonsense_Mutation_p.S941*|PBRM1_uc010hmk.1_Nonsense_Mutation_p.S941*|PBRM1_uc003dey.2_Nonsense_Mutation_p.S941*|PBRM1_uc003dez.1_Nonsense_Mutation_p.S940*|PBRM1_uc003dfb.1_Nonsense_Mutation_p.S853*|PBRM1_uc003dfa.1_Nonsense_Mutation_p.S287* NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 941 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) ATGTAAGCCTGAGAGGCCTGC 0.428 NA Mis|N|F|S|D|O clear cell renal carcinoma|breast 31 42 0 0 0.003755 0 0 PRKCD 5580 broad.mit.edu 37 3 53217201 53217201 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:53217201G>T uc003dgl.2 + 8 989 c.636G>T c.(634-636)GCG>GCT p.A212A PRKCD_uc003dgm.2_Silent_p.A212A|PRKCD_uc010hmt.1_5'Flank NM_006254 NP_006245 Q05655 KPCD_HUMAN protein kinase C, delta 212 activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding central_nervous_system(4)|lung(3)|stomach(1)|skin(1) 9 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) CTGGCACCGCGGCCAACAGCC 0.612 NA 10 27 4.68919e-08 6.0898e-08 0.008291 1 0 PTPRG 5793 broad.mit.edu 37 3 61989074 61989074 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:61989074G>T uc003dlb.2 + 4 1141 c.422G>T c.(421-423)GGC>GTC p.G141V PTPRG_uc003dlc.2_Missense_Mutation_p.G141V NM_002841 NP_002832 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 141 Extracellular (Potential).|Alpha-carbonic anhydrase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(5)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) GGTCTACCTGGCAGATTCAAA 0.483 NA 18 43 1.01871e-10 1.42505e-10 0.008871 1 0 PTPRG 5793 broad.mit.edu 37 3 62267340 62267340 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:62267340G>A uc003dlb.2 + 27 4587 c.3868G>A c.(3868-3870)GAA>AAA p.E1290K PTPRG_uc003dlc.2_Missense_Mutation_p.E1261K|PTPRG_uc011bfi.1_Missense_Mutation_p.E536K|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron NM_002841 NP_002832 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 1290 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(5)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) CCTCTCTAATGAAGAACAAAT 0.438 NA 26 44 0 0 0.002836 0 0 OR5K3 403277 broad.mit.edu 37 3 98110437 98110437 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:98110437C>T uc011bgw.1 + 1 928 c.928C>T c.(928-930)CAC>TAC p.H310Y NM_001005516 NP_001005516 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, 310 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AAAATTTTGTCACATTCTGAA 0.269 NA 25 54 0 0 0.004656 0 0 GPR15 2838 broad.mit.edu 37 3 98251507 98251507 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:98251507C>A uc011bgy.1 + 1 630 c.630C>A c.(628-630)AGC>AGA p.S210R NM_005290 NP_005281 P49685 GPR15_HUMAN G protein-coupled receptor 15 210 Helical; Name=5; (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) CTTTGTTGAGCATTGTGACCT 0.408 NA 19 62 2.70639e-06 3.26922e-06 0.002299 1 0 CCDC54 84692 broad.mit.edu 37 3 107097331 107097331 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:107097331C>A uc003dwi.1 + 1 1144 c.897C>A c.(895-897)CCC>CCA p.P299P NM_032600 NP_115989 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 299 0 TCACTGGGCCCATTTTGAGCT 0.418 NA 13 30 2.23348e-06 2.71339e-06 0.004007 1 0 DZIP3 9666 broad.mit.edu 37 3 108394644 108394644 + Nonsense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:108394644C>G uc003dxd.2 + 25 3127 c.2705C>G c.(2704-2706)TCA>TGA p.S902* DZIP3_uc003dxf.1_Nonsense_Mutation_p.S902*|DZIP3_uc011bhm.1_Nonsense_Mutation_p.S353* NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 902 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 AACCTAGAATCACTTCAATTA 0.378 NA 8 23 0 0 0.004482 0 0 SLC9A10 285335 broad.mit.edu 37 3 111981885 111981885 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:111981885C>A uc003dyu.2 - 10 1305 c.1083G>T c.(1081-1083)TGG>TGT p.W361C SLC9A10_uc011bhu.1_Intron|SLC9A10_uc010hqc.2_Missense_Mutation_p.W313C NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN sperm-specific sodium proton exchanger 361 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ovary(3)|breast(2) 5 ATATCCAGCGCCAACTGAACT 0.368 NA 15 50 2.35188e-11 3.34985e-11 0.006122 1 0 CD200R1 131450 broad.mit.edu 37 3 112650004 112650004 + Missense_Mutation SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:112650004A>G uc003dzk.1 - 2 315 c.82T>C c.(82-84)TGT>CGT p.C28R CD200R1_uc003dzj.1_Missense_Mutation_p.C51R|CD200R1_uc011bhx.1_Intron|CD200R1_uc003dzl.1_Missense_Mutation_p.C51R|CD200R1_uc003dzm.1_Missense_Mutation_p.C28R NM_170780 NP_740750 Q8TD46 MO2R1_HUMAN CD200 receptor 1 isoform d 28 interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity ovary(2)|pancreas(1) 3 TCATCCATACATAAACTGCTT 0.373 NA 7 44 0 0 0.00308 0 0 ATP6V1A 523 broad.mit.edu 37 3 113524372 113524373 + Splice_Site DNP GG GG TT TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:113524372_113524373GG>TT uc003eao.2 + 14 1827 c.1761_splice c.e14+1 p.K587_splice ATP6V1A_uc011bik.1_Splice_Site_p.K554_splice NM_001690 NP_001681 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal V1 subunit A ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism ovary(2)|skin(1) 3 TGAAATTCAAGGTATATTTTGT 0.262 NA 7 33 0 0 0.004672 0 0 GPR156 165829 broad.mit.edu 37 3 119905592 119905592 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:119905592G>A uc011bjf.1 - 5 513 c.513C>T c.(511-513)GCC>GCT p.A171A GPR156_uc011bjg.1_Silent_p.A171A NM_153002 NP_694547 Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 171 Helical; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.19) CCATCAACAGGGCTGCCACCA 0.512 NA 42 115 0 0 0.00361 0 0 POLQ 10721 broad.mit.edu 37 3 121206971 121206971 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:121206971G>C uc003eee.3 - 16 4936 c.4807C>G c.(4807-4809)CAA>GAA p.Q1603E POLQ_uc003eed.2_Missense_Mutation_p.Q775E NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 1603 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) TGATCACCTTGGTGGTGCTCA 0.398 Pancreas(152;907 1925 26081 31236 36904) NA DNA_polymerases_(catalytic_subunits) 58 184 0 0 0.00361 0 0 PARP15 165631 broad.mit.edu 37 3 122354909 122354909 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:122354909C>G uc003efm.2 + 12 2065 c.1999C>G c.(1999-2001)CAG>GAG p.Q667E PARP15_uc003efn.2_Missense_Mutation_p.Q472E|PARP15_uc003efo.1_Missense_Mutation_p.Q414E|PARP15_uc003efp.1_Missense_Mutation_p.Q433E|PARP15_uc011bjt.1_Missense_Mutation_p.Q364E NM_001113523 NP_001106995 Q460N3 PAR15_HUMAN poly (ADP-ribose) polymerase family, member 15 645 PARP catalytic. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity lung(3)|upper_aerodigestive_tract(1)|ovary(1) 5 GBM - Glioblastoma multiforme(114;0.0531) CTTTGATAATCAGGCTTACCC 0.368 NA 9 30 0 0 0.008291 0 0 PARP14 54625 broad.mit.edu 37 3 122446803 122446803 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:122446803G>A uc003efq.3 + 16 5145 c.5086G>A c.(5086-5088)GGC>AGC p.G1696S PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.G1413S NM_017554 NP_060024 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1696 PARP catalytic. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity ovary(2)|breast(2)|lung(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(114;0.0531) CAATCGAAATGGCTTTAACCG 0.502 NA 8 20 0 0 0.006214 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125877422 125877423 + Missense_Mutation DNP CC CC AA TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:125877422_125877423CC>AA uc003eim.1 - 3 377_378 c.187_188GG>TT c.(187-189)GGA>TTA p.G63L ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.G63L|ALDH1L1_uc003eio.2_5'Flank|ALDH1L1_uc010hsf.1_Missense_Mutation_p.G89L|ALDH1L1_uc003eip.1_5'UTR|ALDH1L1_uc011bkj.1_Intron NM_012190 NP_036322 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 63 GART. G -> A (in Ref. 1; AAC35000). 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) CAAAGCCTGTCCTTTTGCACGC 0.55 NA 28 73 0 0 0.004672 0 0 DNAJB8 165721 broad.mit.edu 37 3 128181664 128181664 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:128181664G>T uc003ekk.1 - 3 2086 c.425C>A c.(424-426)CCG>CAG p.P142Q uc003ekl.1_5'Flank NM_153330 NP_699161 Q8NHS0 DNJB8_HUMAN DnaJ homolog, subfamily B, member 8 142 protein folding heat shock protein binding|unfolded protein binding 0 GBM - Glioblastoma multiforme(114;0.177) CATGAAGGCCGGAAATTCTCC 0.612 NA 6 17 2.7689e-08 3.62443e-08 0.001984 1 0 Unknown 0 broad.mit.edu 37 3 129140221 129140221 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:129140221T>A uc003emg.2 - 2 638 c.475A>T c.(475-477)AGG>TGG p.R159W NM_207307 NP_997190 hypothetical protein LOC90288 NA CTGGTGGTCCTGGTAGTTGCC 0.463 NA 6 16 0 0 0.001168 0 0 COL6A6 131873 broad.mit.edu 37 3 130285953 130285953 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:130285953C>A uc010htl.2 + 4 1721 c.1690C>A c.(1690-1692)CAC>AAC p.H564N NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 564 VWFA 3.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 GAGAGAAGAGCACATCCGAGT 0.473 NA 33 99 5.71845e-15 8.82089e-15 0.005524 1 0 COL6A6 131873 broad.mit.edu 37 3 130293197 130293197 + Silent SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:130293197G>C uc010htl.2 + 7 3406 c.3375G>C c.(3373-3375)CTG>CTC p.L1125L NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1125 Nonhelical region.|VWFA 6. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 CGGAAGCCCTGAGACACAGAG 0.567 NA 18 29 0 0 0.00278 0 0 COL6A6 131873 broad.mit.edu 37 3 130380837 130380837 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:130380837C>T uc010htl.2 + 34 6218 c.6187C>T c.(6187-6189)CAT>TAT p.H2063Y COL6A6_uc003eni.3_Missense_Mutation_p.H162Y NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 2063 VWFA 9.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 TTTTATTGGTCATGCCTTACA 0.413 NA 4 26 0 0 0.009096 0 0 PIK3R4 30849 broad.mit.edu 37 3 130398210 130398210 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:130398210C>A uc003enj.2 - 20 4607 c.4026G>T c.(4024-4026)CAG>CAT p.Q1342H NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 1342 WD 7. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 CGATGAAGCCCTGTGTGGTCT 0.423 NA 11 25 7.03913e-09 9.3457e-09 0.001368 1 0 NPHP3 27031 broad.mit.edu 37 3 132403529 132403529 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:132403529C>T uc003epe.1 - 24 3516 c.3439G>A c.(3439-3441)GAA>AAA p.E1147K NPHP3_uc003eoz.1_Missense_Mutation_p.E26K|NPHP3_uc003epd.1_Missense_Mutation_p.E389K NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN nephrocystin 3 1147 TPR 8. maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding ovary(1) 1 TGTTTCTTTTCATTGCATAGA 0.428 NA 13 20 0 0 0.001855 0 0 CLSTN2 64084 broad.mit.edu 37 3 140178428 140178428 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:140178428C>A uc003etn.2 + 7 1229 c.1039C>A c.(1039-1041)CTG>ATG p.L347M CLSTN2_uc003etm.2_Missense_Mutation_p.L347M NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 347 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 GACTGCAGGACTGCTGGTGGA 0.557 GBM(45;858 913 3709 36904 37282) NA HNSCC(16;0.037) 22 48 7.92952e-12 1.14812e-11 0.003954 1 0 CLSTN2 64084 broad.mit.edu 37 3 140282874 140282874 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:140282874G>T uc003etn.2 + 16 2744 c.2554G>T c.(2554-2556)GTG>TTG p.V852L NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 852 Helical; (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 GGCCATGGGTGTGTACCGGGT 0.537 GBM(45;858 913 3709 36904 37282) NA HNSCC(16;0.037) 31 91 8.88839e-20 1.46856e-19 0.002096 1 0 TRIM42 287015 broad.mit.edu 37 3 140406626 140406626 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:140406626G>T uc003eto.1 + 3 1293 c.1102G>T c.(1102-1104)GAC>TAC p.D368Y NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 368 intracellular zinc ion binding lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 CTTTAAAGCTGACAAGGAGGC 0.358 NA 9 19 0.00621372 0.0065484 0.006214 1 0 PLSCR1 5359 broad.mit.edu 37 3 146251271 146251271 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:146251271G>A uc003evx.3 - 3 468 c.80C>T c.(79-81)CCG>CTG p.P27L PLSCR1_uc003evy.3_Missense_Mutation_p.P20L|PLSCR1_uc011bnn.1_Nonsense_Mutation_p.R19*|PLSCR1_uc003evz.3_RNA|PLSCR1_uc003ewa.2_Missense_Mutation_p.P27L NM_021105 NP_066928 O15162 PLS1_HUMAN phospholipid scramblase 1 27 Cytoplasmic. phospholipid scrambling|platelet activation|response to virus integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding ovary(2) 2 GAATGCTGTCGGTGGATACTG 0.313 NA 29 93 0 0 0.004878 0 0 IGSF10 285313 broad.mit.edu 37 3 151166319 151166319 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:151166319C>A uc011bod.1 - 4 1450 c.1450G>T c.(1450-1452)GAA>TAA p.E484* NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 484 Ig-like C2-type 1. cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ACAGTATGTTCCAGCTTAGTA 0.483 NA 34 128 1.47197e-15 2.30645e-15 0.007835 1 0 SI 6476 broad.mit.edu 37 3 164785164 164785164 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:164785164C>A uc003fei.2 - 6 661 c.599G>T c.(598-600)AGC>ATC p.S200I NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 200 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) AACTTGGATGCTAAATGGGTT 0.303 NA HNSCC(35;0.089) 14 51 3.45872e-05 3.9962e-05 0.004007 1 0 SERPINI2 5276 broad.mit.edu 37 3 167164224 167164224 + Missense_Mutation SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:167164224A>G uc003fer.1 - 7 1155 c.1097T>C c.(1096-1098)ATA>ACA p.I366T SERPINI2_uc003fes.1_Missense_Mutation_p.I376T|SERPINI2_uc003fet.1_Missense_Mutation_p.I366T NM_006217 NP_006208 O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), 366 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(2)|urinary_tract(1) 3 ATGATTTGCTATAAATTGGCT 0.338 NA 25 77 0 0 0.002096 0 0 WDR49 151790 broad.mit.edu 37 3 167240272 167240272 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:167240272C>A uc003fev.1 - 12 1855 c.1549G>T c.(1549-1551)GCA>TCA p.A517S WDR49_uc003feu.1_Missense_Mutation_p.A342S|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 517 large_intestine(1)|ovary(1)|skin(1) 3 CAGTGCTTTGCCTGAAAAAAA 0.204 NA 7 20 1.12685e-05 1.32356e-05 0.004482 1 0 NLGN1 22871 broad.mit.edu 37 3 173996667 173996667 + Silent SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:173996667A>T uc003fio.1 + 6 1299 c.876A>T c.(874-876)GCA>GCT p.A292A NLGN1_uc010hww.1_Silent_p.A332A|NLGN1_uc003fip.1_Silent_p.A292A NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 309 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) TTCAACGAGCAATAGCTCAAA 0.368 NA 13 20 0 0 0.00245 0 0 NLGN1 22871 broad.mit.edu 37 3 173997229 173997229 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:173997229G>T uc003fio.1 + 6 1861 c.1438G>T c.(1438-1440)GGT>TGT p.G480C NLGN1_uc010hww.1_Missense_Mutation_p.G520C|NLGN1_uc003fip.1_Missense_Mutation_p.G480C NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 497 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) CTCAAACTTTGGTTCACCTAC 0.488 NA 13 31 6.72482e-11 9.4965e-11 0.003163 1 0 NAALADL2 254827 broad.mit.edu 37 3 175184794 175184794 + Missense_Mutation SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:175184794A>G uc003fit.2 + 8 1442 c.1355A>G c.(1354-1356)CAT>CGT p.H452R NAALADL2_uc003fiu.1_Missense_Mutation_p.H445R|NAALADL2_uc010hwy.1_Missense_Mutation_p.H226R|NAALADL2_uc010hwz.1_Missense_Mutation_p.H46R NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 452 Extracellular (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) GGCAGCCATCATCACACTGCA 0.373 NA 54 146 0 0 0.00361 0 0 PIK3CA 5290 broad.mit.edu 37 3 178919301 178919301 + Silent SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:178919301A>T uc003fjk.2 + 4 943 c.786A>T c.(784-786)CTA>CTT p.L262L NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 262 PI3K-RBD. 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 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) AATACTTCCTAGAAAAATATC 0.299 Colon(199;1504 1750 3362 26421 31210 32040) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 13 36 0 0 0.003163 0 0 KLHL6 89857 broad.mit.edu 37 3 183273217 183273217 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:183273217G>C uc003flr.2 - 1 283 c.225C>G c.(223-225)ATC>ATG p.I75M KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Missense_Mutation_p.I73M NM_130446 NP_569713 Q8WZ60 KLHL6_HUMAN kelch-like 6 75 BTB. haematopoietic_and_lymphoid_tissue(2)|ovary(1) 3 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) CCACACACAAGATGACATCTG 0.502 NA 37 77 0 0 0.007835 0 0 PARL 55486 broad.mit.edu 37 3 183602624 183602624 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:183602624C>T uc003fmd.2 - 1 70 c.11G>A c.(10-12)CGA>CAA p.R4Q PARL_uc003fme.2_Missense_Mutation_p.R4Q NM_018622 NP_061092 Q9H300 PARL_HUMAN presenilin associated, rhomboid-like isoform 1 4 proteolysis integral to membrane|mitochondrial inner membrane|nucleus serine-type endopeptidase activity 0 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CGCCCAGCCTCGCCACGCCAT 0.697 NA OREG0015941 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 18 0 0 0.000978 0 0 PSMD2 5708 broad.mit.edu 37 3 184025763 184025763 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:184025763G>A uc003fnn.1 + 19 2417 c.2384G>A c.(2383-2385)GGA>GAA p.G795E PSMD2_uc011brj.1_Missense_Mutation_p.G636E|PSMD2_uc011brk.1_Missense_Mutation_p.G665E NM_002808 NP_002799 Q13200 PSMD2_HUMAN proteasome 26S non-ATPase subunit 2 795 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding 0 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) GCCGTGGCTGGACTGCTCACT 0.527 Colon(24;313 636 6917 9932 15554) NA 12 43 0 0 0.00245 0 0 MAP3K13 9175 broad.mit.edu 37 3 185191263 185191263 + Missense_Mutation SNP A A G rs66535452 TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:185191263A>G uc010hyf.2 + 12 2410 c.2144A>G c.(2143-2145)AAG>AGG p.K715R MAP3K13_uc011brt.1_Missense_Mutation_p.K508R|MAP3K13_uc011bru.1_Missense_Mutation_p.K571R|MAP3K13_uc003fpi.2_Missense_Mutation_p.K715R|MAP3K13_uc010hyg.2_Missense_Mutation_p.K405R NM_004721 NP_004712 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 715 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding ovary(2)|skin(1) 3 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GAGCCTGACAAGGGCCAAGCT 0.597 NA 23 53 0 0 0.00632 0 0 RTP2 344892 broad.mit.edu 37 3 187419766 187419766 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:187419766G>T uc003fro.1 - 1 580 c.151C>A c.(151-153)CAC>AAC p.H51N NM_001004312 NP_001004312 Q5QGT7 RTP2_HUMAN receptor transporting protein 2 51 Cytoplasmic (Potential). protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding 0 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) CCTGAGGCGTGCTGCTCCAGG 0.622 NA 27 81 4.06085e-26 7.11247e-26 0.007291 1 0 ATP13A5 344905 broad.mit.edu 37 3 193080198 193080198 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:193080198C>A uc011bsq.1 - 5 508 c.508G>T c.(508-510)GGT>TGT p.G170C NM_198505 NP_940907 Q4VNC0 AT135_HUMAN ATPase type 13A5 170 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(5)|skin(4)|large_intestine(2) 11 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CTGGTCAGACCCAATCCAAAT 0.418 NA 29 62 2.68265e-12 3.93545e-12 0.002836 1 0 MUC4 4585 broad.mit.edu 37 3 195516489 195516489 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:195516489G>A uc011bto.1 - 2 2422 c.1962C>T c.(1960-1962)TCC>TCT p.S654S MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Silent_p.S536S NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 659 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGGGGGAGACGGACCTCGTGG 0.557 NA 27 78 0 0 0.008361 0 0 RNF168 165918 broad.mit.edu 37 3 196229811 196229811 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:196229811C>A uc003fwq.2 - 1 772 c.234G>T c.(232-234)ACG>ACT p.T78T RNF168_uc010iah.2_5'UTR NM_152617 NP_689830 Q8IYW5 RN168_HUMAN ring finger protein 168 78 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) TTTGAATTATCGTCCACAGTT 0.502 NA 22 23 2.98393e-07 3.74439e-07 0.00278 1 0 BDH1 622 broad.mit.edu 37 3 197238927 197238927 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:197238927C>A uc003fxr.2 - 8 1273 c.871G>T c.(871-873)GGC>TGC p.G291C BDH1_uc003fxs.2_Missense_Mutation_p.G291C|BDH1_uc003fxt.2_Missense_Mutation_p.G204C|BDH1_uc003fxu.2_Missense_Mutation_p.G291C NM_203314 NP_976059 Q02338 BDH_HUMAN 3-hydroxybutyrate dehydrogenase, type 1 291 cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix 3-hydroxybutyrate dehydrogenase activity ovary(1) 1 all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437) Lung NSC(153;0.118) Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06) GBM - Glioblastoma multiforme(93;0.0977) NADH(DB00157) TCTGTGGAGCCACTGCTGCAG 0.577 NA 32 100 2.05212e-20 3.41713e-20 0.005524 1 0 ZNF595 152687 broad.mit.edu 37 4 59449 59449 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:59449G>T uc003fzv.1 + 2 286 c.130G>T c.(130-132)GGT>TGT p.G44C ZNF595_uc003fzu.1_RNA|ZNF718_uc003fzt.3_Missense_Mutation_p.G44C|ZNF595_uc010iay.1_RNA|ZNF595_uc011bus.1_5'UTR|ZNF595_uc011but.1_Intron NM_182524 NP_872330 Q7Z3I0 Q7Z3I0_HUMAN zinc finger protein 595 44 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) GGTCTCCCTGGGTGAGGATAA 0.413 NA 9 212 0.000978159 0.00106403 0.000978 1 0 ABCA11P 79963 broad.mit.edu 37 4 420315 420315 + Silent SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:420315G>C uc003gae.2 - 5 1126 c.591C>G c.(589-591)CTC>CTG p.L197L ABCA11P_uc003gac.2_Silent_p.L146L|ABCA11P_uc003gad.2_RNA|ABCA11P_uc011buv.1_3'UTR|ABCA11P_uc010ibd.1_Silent_p.L197L RecName: Full=Putative ATP-binding cassette sub-family A member 11; 0 GAGTTCTCCTGAGGGCAGTAC 0.493 NA 16 39 0 0 0.00499 0 0 SH3BP2 6452 broad.mit.edu 37 4 2826361 2826361 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:2826361G>A uc003gfi.3 + 4 381 c.261G>A c.(259-261)GAG>GAA p.E87E SH3BP2_uc010icn.2_Silent_p.E87E|SH3BP2_uc011bvp.1_Silent_p.E115E|SH3BP2_uc003gfj.3_Silent_p.E144E|SH3BP2_uc003gfk.3_Silent_p.E87E|SH3BP2_uc003gfl.3_Silent_p.E20E|SH3BP2_uc003gfm.3_5'Flank NM_001122681 NP_001116153 P78314 3BP2_HUMAN SH3-domain binding protein 2 isoform a 87 PH. signal transduction SH3 domain binding|SH3/SH2 adaptor activity central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) CGGCTGAGGAGACCACGTCCA 0.612 NA Cherubism 22 34 0 0 0.004656 0 0 D4S234E 27065 broad.mit.edu 37 4 4393282 4393282 + Silent SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:4393282C>G uc011bvz.1 + 6 1491 c.210C>G c.(208-210)ACC>ACG p.T70T D4S234E_uc011bwa.1_Intron|D4S234E_uc003ghz.2_Silent_p.T70T|D4S234E_uc003gia.2_Silent_p.T70T|D4S234E_uc003gib.2_Silent_p.T70T NM_014392 NP_055207 P42857 NSG1_HUMAN brain neuron cytoplasmic protein 1 70 Cytoplasmic (Potential). dopamine receptor signaling pathway Golgi membrane|integral to membrane|nucleus dopamine receptor binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.166) CTGAGTTCACCGTCAGCATCA 0.532 NA 7 33 0 0 0.001984 0 0 EVC2 132884 broad.mit.edu 37 4 5624387 5624387 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:5624387C>A uc003gij.2 - 14 2432 c.2378G>T c.(2377-2379)GGG>GTG p.G793V EVC2_uc011bwb.1_Missense_Mutation_p.G233V|EVC2_uc003gik.2_Missense_Mutation_p.G713V NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 793 Potential. integral to membrane large_intestine(3)|ovary(2) 5 CCTCTCCTCCCCCTCCAGCTG 0.657 NA 10 36 5.50884e-06 6.54807e-06 0.001368 1 0 JAKMIP1 152789 broad.mit.edu 37 4 6082016 6082016 + Silent SNP C C T rs150623866 TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:6082016C>T uc003giu.3 - 7 1401 c.1125G>A c.(1123-1125)GCG>GCA p.A375A JAKMIP1_uc010idb.1_Silent_p.A375A|JAKMIP1_uc010idc.1_Silent_p.A210A|JAKMIP1_uc010idd.1_Silent_p.A375A|JAKMIP1_uc011bwc.1_Silent_p.A210A|JAKMIP1_uc003giv.3_Silent_p.A375A|JAKMIP1_uc010ide.2_Silent_p.A375A NM_144720 NP_653321 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 375 Mediates interaction with TYK2 and GABBR1.|Potential. A -> V (in a colorectal cancer sample; somatic mutation). protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding p.A375V(1) large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 GCTTCAGAGACGCCTGCGCTG 0.577 NA 8 27 0 0 0.006214 0 0 CLNK 116449 broad.mit.edu 37 4 10566322 10566322 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:10566322G>T uc003gmo.3 - 7 509 c.372C>A c.(370-372)ACC>ACA p.T124T CLNK_uc003gmp.2_Silent_p.T82T NM_052964 NP_443196 Q7Z7G1 CLNK_HUMAN mast cell immunoreceptor signal transducer 124 immune response|intracellular signal transduction intracellular SH3/SH2 adaptor activity ovary(1) 1 GTGTGTTCCAGGTCGGCTGTC 0.463 GBM(87;402 1286 6949 13902 35851) NA 12 31 9.05144e-12 1.30675e-11 0.001855 1 0 CLRN2 645104 broad.mit.edu 37 4 17516969 17516969 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:17516969C>G uc003gpg.1 + 1 182 c.80C>G c.(79-81)GCC>GGC p.A27G NM_001079827 NP_001073296 A0PK11 CLRN2_HUMAN clarin 2 27 Helical; (Potential). integral to membrane 0 ATCATCGTTGCCCTGGTAGTG 0.542 NA 9 39 0 0 0.006214 0 0 CLRN2 645104 broad.mit.edu 37 4 17524522 17524522 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:17524522C>T uc003gpg.1 + 2 391 c.289C>T c.(289-291)CTT>TTT p.L97F NM_001079827 NP_001073296 A0PK11 CLRN2_HUMAN clarin 2 97 integral to membrane 0 CAACGCAGGCCTTCATGTGAT 0.532 NA 38 130 0 0 0.00361 0 0 CLRN2 645104 broad.mit.edu 37 4 17524644 17524644 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:17524644C>A uc003gpg.1 + 2 513 c.411C>A c.(409-411)ATC>ATA p.I137I NM_001079827 NP_001073296 A0PK11 CLRN2_HUMAN clarin 2 137 integral to membrane 0 CTGGGGGCATCTGCCTATGGA 0.557 NA 9 19 5.50884e-06 6.54807e-06 0.001368 1 0 GBA3 57733 broad.mit.edu 37 4 22749107 22749107 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:22749107C>A uc003gqp.3 + 3 566 c.475C>A c.(475-477)CAG>AAG p.Q159K GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.Q160K NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 159 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 TCGTGTCAAGCAGTGGATCAC 0.428 NA 6 44 3.59834e-05 4.13823e-05 0.001168 1 0 GBA3 57733 broad.mit.edu 37 4 22749243 22749243 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:22749243C>G uc003gqp.3 + 3 702 c.611C>G c.(610-612)TCC>TGC p.S204C GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.S205C NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 204 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 CATGCCAGATCCTGGCACAGC 0.453 NA 25 75 0 0 0.00632 0 0 ANAPC4 29945 broad.mit.edu 37 4 25391839 25391839 + Silent SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:25391839A>T uc003gro.2 + 8 726 c.597A>T c.(595-597)ACA>ACT p.T199T ANAPC4_uc003grp.2_Silent_p.T84T|ANAPC4_uc010iet.1_Silent_p.T8T|ANAPC4_uc010ieu.1_Silent_p.T8T NM_013367 NP_037499 Q9UJX5 APC4_HUMAN anaphase-promoting complex subunit 4 199 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity ovary(2)|large_intestine(1)|pancreas(1)|skin(1) 5 Breast(46;0.0503) CTCGAGTCACAGGGGTAAGAT 0.308 NA 3 48 0 0 0.004672 0 0 SEL1L3 23231 broad.mit.edu 37 4 25835118 25835118 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:25835118C>G uc003gru.3 - 4 1086 c.934G>C c.(934-936)GAC>CAC p.D312H NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 312 integral to membrane binding 0 TCATTAGAGTCAACAAAGTAC 0.368 NA 5 34 0 0 0.001168 0 0 ARAP2 116984 broad.mit.edu 37 4 36160403 36160403 + Nonsense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:36160403G>A uc003gsq.1 - 15 3039 c.2701C>T c.(2701-2703)CAA>TAA p.Q901* NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 901 PH 3. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 GAAGGAGCTTGATATAAAAAG 0.333 NA 4 23 0 0 0.009096 0 0 TLR1 7096 broad.mit.edu 37 4 38799406 38799406 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:38799406C>A uc003gtl.2 - 4 1321 c.1047G>T c.(1045-1047)CCG>CCT p.P349P NM_003263 NP_003254 Q15399 TLR1_HUMAN toll-like receptor 1 precursor 349 Extracellular (Potential). cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity lung(2)|skin(2)|prostate(1) 5 AATGCAGGAACGGGCTAATTT 0.363 GBM(5;216 373 40795 46382) NA 9 27 4.3838e-07 5.45499e-07 0.001855 1 0 KLB 152831 broad.mit.edu 37 4 39436334 39436334 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:39436334C>T uc003gua.2 + 2 1427 c.1330C>T c.(1330-1332)CTT>TTT p.L444F KLB_uc011byj.1_Missense_Mutation_p.L444F NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN klotho beta 444 Extracellular (Potential).|Glycosyl hydrolase-1 1. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds skin(1) 1 CAGCCAGGTGCTTCAAGGTTG 0.373 NA 4 22 0 0 0.000602 0 0 DCAF4L1 285429 broad.mit.edu 37 4 41984291 41984291 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:41984291C>A uc003gwk.2 + 1 579 c.482C>A c.(481-483)GCG>GAG p.A161E NM_001029955 NP_001025126 Q3SXM0 DC4L1_HUMAN WD repeat domain 21B 161 skin(1) 1 CTGCTCCCAGCGTCGCGGTTC 0.572 NA 14 53 1.15088e-07 1.4602e-07 0.004007 1 0 GABRG1 2565 broad.mit.edu 37 4 46043194 46043194 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:46043194C>A uc003gxb.2 - 9 1361 c.1209G>T c.(1207-1209)GGG>GGT p.G403G NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 403 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) AACACTGATACCCATAATCAT 0.428 NA 14 41 4.7546e-09 6.35229e-09 0.004007 1 0 GABRA4 2557 broad.mit.edu 37 4 46930629 46930629 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:46930629C>A uc003gxg.2 - 9 1417 c.1278G>T c.(1276-1278)CGG>CGT p.R426R NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 426 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTAAGTAAGACCGAGGTGTGC 0.458 Ovarian(6;283 369 8234 12290 33402) NA 10 45 2.23348e-06 2.71339e-06 0.004007 1 0 GABRA4 2557 broad.mit.edu 37 4 46976356 46976356 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:46976356G>T uc003gxg.2 - 6 753 c.614C>A c.(613-615)ACA>AAA p.T205K NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 205 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AGGACCTTTTGTCCAGGTATA 0.408 Ovarian(6;283 369 8234 12290 33402) NA 9 36 0.000274275 0.000304364 0.004482 1 0 ATP10D 57205 broad.mit.edu 37 4 47589211 47589211 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:47589211C>G uc003gxk.1 + 22 4093 c.3929C>G c.(3928-3930)GCT>GGT p.A1310G ATP10D_uc003gxl.1_Missense_Mutation_p.A558G NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 1310 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 ACGTCCATTGCTCTTCTGCCC 0.418 NA 15 44 0 0 0.006122 0 0 TEC 7006 broad.mit.edu 37 4 48147115 48147115 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:48147115C>A uc003gxz.2 - 14 1542 c.1451G>T c.(1450-1452)AGC>ATC p.S484I NM_003215 NP_003206 P42680 TEC_HUMAN tec protein tyrosine kinase 484 Protein kinase. intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1) 9 GTGGATGAAGCTGTTTCTCTC 0.458 NA 14 93 0.000422831 0.000467125 0.004007 1 0 FRYL 285527 broad.mit.edu 37 4 48503687 48503687 + Missense_Mutation SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:48503687A>G uc003gyh.1 - 62 9150 c.8545T>C c.(8545-8547)TAC>CAC p.Y2849H FRYL_uc003gye.1_Missense_Mutation_p.Y31H|FRYL_uc003gyf.1_Missense_Mutation_p.Y239H|FRYL_uc003gyg.1_Missense_Mutation_p.Y1539H NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 2849 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 AGTTTACAGTAGGCCTGGAAC 0.299 NA 24 122 0 0 0.002096 0 0 LRRC66 339977 broad.mit.edu 37 4 52863992 52863992 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:52863992C>G uc003gzi.2 - 3 791 c.778G>C c.(778-780)GAT>CAT p.D260H NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 260 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 GCCACACTATCATCACACTGC 0.393 NA 49 114 0 0 0.00361 0 0 PDGFRA 5156 broad.mit.edu 37 4 55156608 55156608 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:55156608G>T uc003han.3 + 22 3340 c.3009G>T c.(3007-3009)TGG>TGT p.W1003C PDGFRA_uc003haa.2_Missense_Mutation_p.W763C NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 1003 Cytoplasmic (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TGAAGGACTGGGAGGGTGGTC 0.542 Pancreas(151;208 1913 7310 23853 37092) NA Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 34 63 2.40579e-17 3.89272e-17 0.00623 1 0 PDCL2 132954 broad.mit.edu 37 4 56428761 56428761 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:56428761C>G uc003hbb.2 - 5 484 c.381G>C c.(379-381)TTG>TTC p.L127F NM_152401 NP_689614 Q8N4E4 PDCL2_HUMAN phosducin-like 2 127 0 Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669) GCTGGTTAACCAACAAACACA 0.343 NA 3 13 0 0 0.000602 0 0 KIAA1211 57482 broad.mit.edu 37 4 57182568 57182568 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:57182568C>T uc003hbk.2 + 8 3291 c.2900C>T c.(2899-2901)CCC>CTC p.P967L KIAA1211_uc010iha.2_Missense_Mutation_p.P960L|KIAA1211_uc011bzz.1_Missense_Mutation_p.P877L|KIAA1211_uc003hbm.1_Missense_Mutation_p.P853L NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 967 Pro-rich. ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) GCTCCCAAGCCCACCAGTCAG 0.647 NA 7 17 0 0 0.004482 0 0 SRP72 6731 broad.mit.edu 37 4 57340325 57340325 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:57340325G>C uc003hbv.2 + 4 500 c.460G>C c.(460-462)GTT>CTT p.V154L SRP72_uc010ihe.2_Missense_Mutation_p.V154L|SRP72_uc003hbw.1_5'UTR NM_006947 NP_008878 O76094 SRP72_HUMAN signal recognition particle 72kDa 154 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding ovary(1) 1 Glioma(25;0.08)|all_neural(26;0.101) CCTTTCAGCAGTTGTTGCAGC 0.393 NA 6 26 0 0 0.001984 0 0 LPHN3 23284 broad.mit.edu 37 4 62758597 62758597 + Silent SNP T T G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:62758597T>G uc010ihh.2 + 7 1673 c.1500T>G c.(1498-1500)GCT>GCG p.A500A LPHN3_uc003hcq.3_Silent_p.A500A|LPHN3_uc003hcs.1_Silent_p.A329A NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 500 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 GCTGTGAGGCTGTGGAAGCCC 0.507 NA 4 8 0 0 0.009096 0 0 TECRL 253017 broad.mit.edu 37 4 65147211 65147211 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:65147211C>T uc003hcv.2 - 10 1008 c.899G>A c.(898-900)TGT>TAT p.C300Y TECRL_uc010ihi.2_RNA NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 300 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 GTAGTTAGGACATGAAACCAG 0.323 NA 6 38 0 0 0.00308 0 0 Unknown 0 broad.mit.edu 37 4 69337320 69337320 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:69337320C>A uc003hdz.3 + 5 533 c.469C>A c.(469-471)CCT>ACT p.P157T NM_014058 NP_054777 transmembrane protease, serine 11E NA TAAAGTAGATCCTCACTCAGT 0.313 NA 32 64 1.58521e-26 2.78629e-26 0.005524 1 0 C4orf26 152816 broad.mit.edu 37 4 76489342 76489342 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:76489342C>A uc003hip.1 + 2 121 c.86C>A c.(85-87)ACG>AAG p.T29K C4orf26_uc011cbn.1_RNA|C4orf26_uc011cbo.1_Missense_Mutation_p.R44S NM_178497 NP_848592 Q17RF5 CD026_HUMAN hypothetical protein LOC152816 precursor 29 extracellular region 0 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) GAGGTATTTACGCCTCCTGGA 0.527 NA 10 28 0.00829132 0.00871937 0.008291 1 0 NKX6-1 4825 broad.mit.edu 37 4 85416970 85416970 + Missense_Mutation SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:85416970T>C uc003hpa.1 - 2 704 c.698A>G c.(697-699)GAC>GGC p.D233G NM_006168 NP_006159 P78426 NKX61_HUMAN NK6 transcription factor related, locus 1 233 Repressor domain (By similarity). detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation nucleus 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.0013) TCTCTTCCCGTCTTTGTCCAA 0.483 NA 10 50 0 0 0.001855 0 0 MMRN1 22915 broad.mit.edu 37 4 90874219 90874219 + Missense_Mutation SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:90874219A>G uc003hst.2 + 8 3408 c.3337A>G c.(3337-3339)ATA>GTA p.I1113V MMRN1_uc010iku.2_Missense_Mutation_p.I416V|MMRN1_uc011cds.1_Missense_Mutation_p.I855V NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 1113 C1q. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen ovary(4) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) TGGAATGACTATACCTGGTCC 0.363 NA 19 45 0 0 0.00278 0 0 GRID2 2895 broad.mit.edu 37 4 94006321 94006321 + Silent SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:94006321T>C uc011cdt.1 + 3 678 c.420T>C c.(418-420)GAT>GAC p.D140D GRID2_uc010ikx.2_Silent_p.D140D|GRID2_uc011cdu.1_Intron|GRID2_uc011cdv.1_RNA NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 140 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) ACAGGAATGATGACTACACTC 0.498 NA 16 97 0 0 0.003163 0 0 GRID2 2895 broad.mit.edu 37 4 94547483 94547483 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:94547483G>T uc011cdt.1 + 14 2515 c.2257G>T c.(2257-2259)GAC>TAC p.D753Y GRID2_uc011cdu.1_Missense_Mutation_p.D658Y NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 753 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GGCTATCAATGACCCAGATTG 0.373 NA 29 64 1.08312e-15 1.70254e-15 0.009535 1 0 SMARCAD1 56916 broad.mit.edu 37 4 95198255 95198255 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:95198255C>T uc003htc.3 + 16 2282 c.2027C>T c.(2026-2028)CCA>CTA p.P676L SMARCAD1_uc003htb.3_Missense_Mutation_p.P676L|SMARCAD1_uc003htd.3_Missense_Mutation_p.P676L|SMARCAD1_uc010ila.2_Missense_Mutation_p.P539L|SMARCAD1_uc011cdw.1_Missense_Mutation_p.P246L NM_020159 NP_064544 Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated 676 Helicase ATP-binding. chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity skin(2)|ovary(1)|breast(1) 4 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) TTTGTTATGCCACACATGTTT 0.368 NA 26 81 0 0 0.009535 0 0 SMARCAD1 56916 broad.mit.edu 37 4 95206137 95206137 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:95206137G>T uc003htc.3 + 23 3191 c.2936G>T c.(2935-2937)AGC>ATC p.S979I SMARCAD1_uc003htb.3_Missense_Mutation_p.S981I|SMARCAD1_uc003htd.3_Missense_Mutation_p.S981I|SMARCAD1_uc010ila.2_Missense_Mutation_p.S844I|SMARCAD1_uc011cdw.1_Missense_Mutation_p.S549I NM_020159 NP_064544 Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated 979 Helicase C-terminal. chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity skin(2)|ovary(1)|breast(1) 4 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) AAACTAATAAGCCAAGGGACG 0.284 NA 10 42 1.61879e-10 2.25599e-10 0.001368 1 0 ADH7 131 broad.mit.edu 37 4 100349332 100349332 + Splice_Site SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:100349332C>A uc003huv.1 - 4 395 c.296_splice c.e4-1 p.G99_splice NM_000673 NP_000664 P40394 ADH7_HUMAN class IV alcohol dehydrogenase, mu or sigma ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity lung(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) ACTTTGTCACCTACAGGAAAA 0.358 NA 20 33 8.81451e-21 1.47437e-20 0.008871 1 0 TET2 54790 broad.mit.edu 37 4 106155435 106155435 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:106155435G>A uc003hxk.2 + 3 722 c.336G>A c.(334-336)TTG>TTA p.L112L TET2_uc011cez.1_Silent_p.L133L|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Silent_p.L112L|TET2_uc003hxi.1_Silent_p.L112L NM_001127208 NP_001120680 Q6N021 TET2_HUMAN tet oncogene family member 2 isoform a 112 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen haematopoietic_and_lymphoid_tissue(732)|pancreas(1) 733 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) TCAAGAAATTGAAACAAGACC 0.423 NA Mis N|F MDS 4 25 0 0 0.009096 0 0 DKK2 27123 broad.mit.edu 37 4 107956673 107956673 + Missense_Mutation SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:107956673A>G uc003hyi.2 - 1 781 c.76T>C c.(76-78)TCA>CCA p.S26P DKK2_uc010ilw.1_Intron|DKK2_uc003hyj.1_Missense_Mutation_p.S26P NM_014421 NP_055236 Q9UBU2 DKK2_HUMAN dickkopf homolog 2 precursor 26 multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space ovary(3)|lung(1)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) CCGATCTGTGAGCTCTCCACC 0.642 NA 13 111 0 0 0.003163 0 0 COL25A1 84570 broad.mit.edu 37 4 109931531 109931531 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:109931531C>A uc003hze.1 - 5 952 c.421G>T c.(421-423)GGA>TGA p.G141* COL25A1_uc003hzg.2_Nonsense_Mutation_p.G141*|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_5'UTR NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 141 Extracellular (Potential).|Collagen-like 1. collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CCAGGCTGTCCCTGAAATTAA 0.308 NA 8 7 4.1943e-16 6.63503e-16 0.008291 1 0 ALPK1 80216 broad.mit.edu 37 4 113351650 113351650 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:113351650G>A uc003iap.3 + 11 1226 c.947G>A c.(946-948)TGT>TAT p.C316Y ALPK1_uc003ian.3_Missense_Mutation_p.C316Y|ALPK1_uc011cfx.1_Missense_Mutation_p.C238Y|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.C144Y NM_025144 NP_079420 Q96QP1 ALPK1_HUMAN alpha-kinase 1 316 ATP binding|protein serine/threonine kinase activity ovary(5) 5 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) TCAAATGACTGTCCTCCAGAA 0.403 NA 21 50 0 0 0.00632 0 0 ANK2 287 broad.mit.edu 37 4 114179283 114179283 + Silent SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:114179283T>A uc003ibe.3 + 12 1366 c.1266T>A c.(1264-1266)GCT>GCA p.A422A ANK2_uc003ibd.3_Silent_p.A401A|ANK2_uc003ibf.3_Silent_p.A422A|ANK2_uc003ibc.2_Silent_p.A398A|ANK2_uc011cgb.1_Silent_p.A437A NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 422 ANK 12. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AATATGGGGCTTCAATCCAAG 0.408 NA 17 30 0 0 0.008871 0 0 NDST4 64579 broad.mit.edu 37 4 115751022 115751022 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:115751022C>A uc003ibu.2 - 13 3102 c.2423G>T c.(2422-2424)TGT>TTT p.C808F NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 808 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CAGTAATTGACACCAAAAACC 0.348 NA 8 31 1.06961e-07 1.36877e-07 0.00308 1 0 NDST4 64579 broad.mit.edu 37 4 115773937 115773937 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:115773937C>T uc003ibu.2 - 8 2439 c.1760G>A c.(1759-1761)AGA>AAA p.R587K NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 587 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) AGTTTTCTCTCTGGACCAGAT 0.353 NA 9 21 0 0 0.008291 0 0 BBS7 55212 broad.mit.edu 37 4 122784422 122784422 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:122784422C>A uc003ied.2 - 3 289 c.115G>T c.(115-117)GAT>TAT p.D39Y BBS7_uc003iee.1_Missense_Mutation_p.D39Y|BBS7_uc010inq.1_5'UTR NM_176824 NP_789794 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 protein isoform a 39 cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception BBSome|centrosome|cilium membrane protein binding ovary(1) 1 CCATCATGATCTCCAATAACC 0.318 NA Bardet-Biedl_syndrome 32 153 1.32136e-16 2.11275e-16 0.00874 1 0 KIAA1109 84162 broad.mit.edu 37 4 123107222 123107222 + Silent SNP A A C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:123107222A>C uc003ieh.2 + 5 435 c.390A>C c.(388-390)ACA>ACC p.T130T KIAA1109_uc003iei.1_5'UTR NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 130 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 TATACATCACAGTCAATGACT 0.338 NA 10 34 0 0 0.001368 0 0 FAT4 79633 broad.mit.edu 37 4 126238361 126238361 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:126238361G>T uc003ifj.3 + 1 795 c.795G>T c.(793-795)GTG>GTT p.V265V NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 265 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 ACGCGGTTGTGGGTTCCAGCG 0.627 NA OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 15 0.00829132 0.00871937 0.008291 1 0 FAT4 79633 broad.mit.edu 37 4 126411120 126411120 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:126411120G>T uc003ifj.3 + 17 13143 c.13143G>T c.(13141-13143)AAG>AAT p.K4381N FAT4_uc011cgp.1_Missense_Mutation_p.K2622N|FAT4_uc003ifi.1_Missense_Mutation_p.K1858N NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4381 Laminin G-like 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TCAGCGGGAAGCATAGCTTGG 0.493 NA 36 186 1.22674e-20 2.04733e-20 0.00874 1 0 PCDH18 54510 broad.mit.edu 37 4 138451859 138451859 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:138451859G>A uc003ihe.3 - 1 1771 c.1384C>T c.(1384-1386)CCA>TCA p.P462S PCDH18_uc003ihf.3_Missense_Mutation_p.P455S|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.P242S|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 462 Cadherin 4.|Extracellular (Potential). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) AAGTGGGGTGGATTGTCATTG 0.418 NA 23 110 0 0 0.003954 0 0 TBC1D9 23158 broad.mit.edu 37 4 141543529 141543529 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:141543529C>A uc010ioj.2 - 21 3893 c.3621G>T c.(3619-3621)CGG>CGT p.R1207R NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 1207 intracellular calcium ion binding|Rab GTPase activator activity ovary(1) 1 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) TGGCCCAGTCCCGGTCCAGGC 0.637 NA 6 12 0.00116845 0.00126823 0.001168 1 0 RNF150 57484 broad.mit.edu 37 4 141847210 141847210 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:141847210G>T uc003iio.1 - 5 1562 c.908C>A c.(907-909)TCC>TAC p.S303Y RNF150_uc010iok.1_Missense_Mutation_p.S261Y|RNF150_uc003iip.1_Missense_Mutation_p.S303Y NM_020724 NP_065775 Q9ULK6 RN150_HUMAN ring finger protein 150 precursor 303 Cytoplasmic (Potential).|RING-type; atypical. integral to membrane zinc ion binding ovary(1) 1 all_hematologic(180;0.162) GTCAACACAGGACTTGTGGAA 0.473 NA 7 27 5.18039e-06 6.18734e-06 0.00308 1 0 POU4F2 5458 broad.mit.edu 37 4 147561521 147561521 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:147561521G>T uc003ikv.2 + 2 1039 c.791G>T c.(790-792)CGC>CTC p.R264L NM_004575 NP_004566 Q12837 PO4F2_HUMAN Brn3b POU domain transcription factor 264 POU-specific. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1) 1 all_hematologic(180;0.151) TTCGCCGAGCGCTTCAAGCAG 0.697 NA 5 21 1.23904e-05 1.44506e-05 0.000602 1 0 EDNRA 1909 broad.mit.edu 37 4 148463699 148463699 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:148463699A>T uc003iky.2 + 8 1905 c.1213A>T c.(1213-1215)ATC>TTC p.I405F EDNRA_uc011cid.1_Missense_Mutation_p.I180F|EDNRA_uc010ipf.1_RNA|EDNRA_uc010ipg.1_Missense_Mutation_p.I296F NM_001957 NP_001948 P25101 EDNRA_HUMAN endothelin receptor type A isoform a precursor 405 Cytoplasmic (Potential). activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity ovary(1)|breast(1) 2 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) CGGAACAAGCATCCAGTGGAA 0.532 NA 27 53 0 0 0.00632 0 0 RNF175 285533 broad.mit.edu 37 4 154644586 154644586 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:154644586C>G uc003int.2 - 5 799 c.426G>C c.(424-426)TTG>TTC p.L142F RNF175_uc003inu.1_Missense_Mutation_p.L14F NM_173662 NP_775933 Q8N4F7 RN175_HUMAN ring finger protein 175 142 integral to membrane zinc ion binding ovary(1)|pancreas(1) 2 all_hematologic(180;0.093) Renal(120;0.118) GTTTGTAGATCAAAAGAAACC 0.358 NA 8 10 0 0 0.006214 0 0 DCHS2 54798 broad.mit.edu 37 4 155219643 155219643 + Silent SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:155219643A>G uc003inw.2 - 18 4458 c.4458T>C c.(4456-4458)TCT>TCC p.S1486S NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1486 Cadherin 13. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CTTCTCTCACAGAGGACTGGT 0.463 NA 21 87 0 0 0.00333 0 0 GRIA2 2891 broad.mit.edu 37 4 158281203 158281203 + Silent SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:158281203T>A uc003ipm.3 + 13 2658 c.2199T>A c.(2197-2199)ATT>ATA p.I733I GRIA2_uc011cit.1_Silent_p.I686I|GRIA2_uc003ipl.3_Silent_p.I733I|GRIA2_uc003ipk.3_Silent_p.I686I|GRIA2_uc010iqh.1_RNA|GRIA2_uc011ciu.1_Silent_p.I43I|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_Silent_p.I43I|GRIA2_uc011ciy.1_Silent_p.I43I|GRIA2_uc011ciz.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 733 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) ACGAGTACATTGAGCAAAGGA 0.507 NA 16 34 0 0 0.00499 0 0 FSTL5 56884 broad.mit.edu 37 4 162307403 162307403 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:162307403G>T uc003iqh.2 - 16 2476 c.2040C>A c.(2038-2040)GAC>GAA p.D680E FSTL5_uc003iqi.2_Missense_Mutation_p.D679E|FSTL5_uc010iqv.2_Missense_Mutation_p.D670E|uc010iqu.1_RNA NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 680 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CAGTTACACCGTCCACCATGA 0.498 NA 18 25 2.39187e-15 3.71838e-15 0.008871 1 0 FSTL5 56884 broad.mit.edu 37 4 162577522 162577522 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:162577522C>A uc003iqh.2 - 7 1288 c.852G>T c.(850-852)AGG>AGT p.R284S FSTL5_uc003iqi.2_Missense_Mutation_p.R283S|FSTL5_uc010iqv.2_Missense_Mutation_p.R283S NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 284 Ig-like 1. extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TAATATTGTTCCTTTTCCAGA 0.348 NA 4 27 1.23904e-05 1.44506e-05 0.000602 1 0 FSTL5 56884 broad.mit.edu 37 4 162680600 162680600 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:162680600G>T uc003iqh.2 - 6 1126 c.690C>A c.(688-690)GAC>GAA p.D230E FSTL5_uc003iqi.2_Missense_Mutation_p.D229E|FSTL5_uc010iqv.2_Missense_Mutation_p.D229E NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 230 2 (Potential).|EF-hand 2. extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CCAGGTGCTTGTCAGCATTAA 0.333 NA 13 28 4.36969e-10 6.03318e-10 0.001855 1 0 NPY1R 4886 broad.mit.edu 37 4 164246676 164246676 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:164246676A>T uc003iqm.1 - 3 1200 c.934T>A c.(934-936)TCC>ACC p.S312T NPY1R_uc011cjj.1_Missense_Mutation_p.S69T NM_000909 NP_000900 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 312 Helical; Name=7; (Potential). inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding lung(1)|pancreas(1) 2 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) ACACAAGTGGATATCATTGCT 0.418 NA 4 46 0 0 0.009096 0 0 VEGFC 7424 broad.mit.edu 37 4 177608569 177608569 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:177608569G>C uc003ius.1 - 6 1347 c.917C>G c.(916-918)CCC>CGC p.P306R NM_005429 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 306 4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.|2. angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity lung(5) 5 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) TTCTTTGTGGGGTCCACAGCT 0.507 NA 10 66 0 0 0.006214 0 0 RWDD4A 201965 broad.mit.edu 37 4 184567667 184567667 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:184567667C>A uc003ivt.1 - 6 731 c.505G>T c.(505-507)GGC>TGC p.G169C RWDD4A_uc003ivu.1_RNA|RWDD4A_uc003ivv.1_Missense_Mutation_p.G106C|RWDD4A_uc011ckl.1_RNA NM_152682 NP_689895 Q6NW29 RWDD4_HUMAN RWD domain containing 4A 169 0 all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;7.35e-27)|Epithelial(43;1.49e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.76e-10)|GBM - Glioblastoma multiforme(59;5.54e-06)|Colorectal(24;7.92e-06)|STAD - Stomach adenocarcinoma(60;2.35e-05)|COAD - Colon adenocarcinoma(29;6.26e-05)|LUSC - Lung squamous cell carcinoma(40;0.00935)|READ - Rectum adenocarcinoma(43;0.166) CAGTTCCAGCCTCGAGGAAGT 0.274 NA 34 49 3.43241e-23 5.87342e-23 0.009718 1 0 FAM149A 25854 broad.mit.edu 37 4 187084032 187084032 + Missense_Mutation SNP A A C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:187084032A>C uc003iyt.3 + 9 1342 c.763A>C c.(763-765)ATG>CTG p.M255L FAM149A_uc011cla.1_Missense_Mutation_p.M255L|FAM149A_uc003iyu.3_Missense_Mutation_p.M255L|FAM149A_uc010isl.2_Missense_Mutation_p.M255L|FAM149A_uc011clb.1_Missense_Mutation_p.M255L NM_015398 NP_056213 A5PLN7 F149A_HUMAN hypothetical protein LOC25854 546 breast(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166) TTATAGTGACATGAATGGTGT 0.378 NA 20 28 0 0 0.00333 0 0 ADCY2 108 broad.mit.edu 37 5 7626284 7626284 + Missense_Mutation SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:7626284T>C uc003jdz.1 + 4 642 c.575T>C c.(574-576)CTG>CCG p.L192P NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 192 Helical; (Potential). VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 CTTTAGATCCTGGCCAATGTG 0.438 NA 19 108 0 0 0.002299 0 0 CTNND2 1501 broad.mit.edu 37 5 11199587 11199587 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:11199587C>G uc003jfa.1 - 11 2093 c.1948G>C c.(1948-1950)GAC>CAC p.D650H CTNND2_uc010itt.2_Missense_Mutation_p.D559H|CTNND2_uc011cmy.1_Missense_Mutation_p.D313H|CTNND2_uc011cmz.1_Missense_Mutation_p.D217H|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.D217H NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 650 ARM 4. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 ATCTCCAGGTCAGTCGTCTTG 0.428 NA 17 123 0 0 0.00278 0 0 FBXL7 23194 broad.mit.edu 37 5 15936592 15936592 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:15936592G>T uc003jfn.1 + 4 1254 c.773G>T c.(772-774)CGG>CTG p.R258L NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 258 LRR 4. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 AGCTTGACCCGGGAGGCCTCC 0.582 NA 11 22 1.08611e-07 1.38156e-07 0.000978 1 0 MYO10 4651 broad.mit.edu 37 5 16701710 16701710 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:16701710C>A uc003jft.3 - 25 3262 c.2794G>T c.(2794-2796)GAG>TAG p.E932* MYO10_uc011cnc.1_5'Flank|MYO10_uc011cnd.1_Nonsense_Mutation_p.E289*|MYO10_uc011cne.1_Nonsense_Mutation_p.E289*|MYO10_uc010itx.2_Nonsense_Mutation_p.E555* NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 932 Potential. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 CACGCTTCCTCCTCCAGCCTG 0.647 NA 4 10 0.00024832 0.000277424 0.009096 1 0 CDH18 1016 broad.mit.edu 37 5 19838916 19838916 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:19838916G>A uc003jgc.2 - 2 557 c.180C>T c.(178-180)TTC>TTT p.F60F CDH18_uc003jgd.2_Silent_p.F60F|CDH18_uc011cnm.1_Silent_p.F60F NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 60 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) CTAAAACAAAGAACTGATTCC 0.403 NA 11 22 0 0 0.003163 0 0 CDH12 1010 broad.mit.edu 37 5 21751939 21751939 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:21751939G>T uc010iuc.2 - 12 2750 c.2292C>A c.(2290-2292)GAC>GAA p.D764E CDH12_uc011cno.1_Missense_Mutation_p.D724E|CDH12_uc003jgk.2_Missense_Mutation_p.D764E|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 764 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 GATAGTCATAGTCCTGGTCGG 0.507 NA HNSCC(59;0.17) 27 56 9.78485e-24 1.68015e-23 0.002836 1 0 PRDM9 56979 broad.mit.edu 37 5 23526721 23526721 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:23526721C>A uc003jgo.2 + 11 1706 c.1524C>A c.(1522-1524)AAC>AAA p.N508K NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 508 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 ATCCAGGGAACACAGGCAAAT 0.428 NA HNSCC(3;0.000094) 15 41 0.00400662 0.0042678 0.004007 1 0 CDH6 1004 broad.mit.edu 37 5 31317493 31317493 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:31317493C>A uc003jhe.1 + 10 1850 c.1524C>A c.(1522-1524)ACC>ACA p.T508T CDH6_uc003jhd.1_Silent_p.T508T NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 508 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 TGATTCAGACCCTGCATGCTG 0.393 NA 21 43 1.10923e-09 1.52021e-09 0.00278 1 0 IL7R 3575 broad.mit.edu 37 5 35876369 35876369 + Silent SNP C C A rs139678300 TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:35876369C>A uc003jjs.2 + 8 1250 c.1161C>A c.(1159-1161)TCC>TCA p.S387S IL7R_uc011cop.1_RNA NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 387 Cytoplasmic (Potential). immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity ovary(3)|breast(1)|skin(1) 5 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) CTTCCAGGTCCCTAGACTGCA 0.537 NA 5 34 3.59834e-05 4.13823e-05 0.001168 1 0 UGT3A1 133688 broad.mit.edu 37 5 35955804 35955804 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:35955804T>A uc003jjv.1 - 6 1395 c.1238A>T c.(1237-1239)AAT>ATT p.N413I UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.N413I|UGT3A1_uc011cor.1_Missense_Mutation_p.N379I NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 413 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGTGACCTGATTCAACCGGAT 0.468 NA 29 72 0 0 0.003755 0 0 C9 735 broad.mit.edu 37 5 39342283 39342283 + Silent SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:39342283T>A uc003jlv.3 - 2 182 c.93A>T c.(91-93)CTA>CTT p.L31L NM_001737 NP_001728 P02748 CO9_HUMAN complement component 9 precursor 31 complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex 0 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) TGCTTTCTGTTAGCTCTGGGT 0.408 NA 9 28 0 0 0.000978 0 0 DAB2 1601 broad.mit.edu 37 5 39390546 39390546 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:39390546C>A uc003jlx.2 - 5 993 c.462G>T c.(460-462)CAG>CAT p.Q154H DAB2_uc003jlw.2_Missense_Mutation_p.Q154H NM_001343 NP_001334 P98082 DAB2_HUMAN disabled homolog 2 154 PID. cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding kidney(2)|skin(1) 3 all_lung(31;0.000197) Epithelial(62;0.137) TAGAGCTCACCTGTTGCCCGG 0.453 NA 12 51 3.52763e-06 4.24057e-06 0.00499 1 0 PLK2 10769 broad.mit.edu 37 5 57755550 57755550 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:57755550C>T uc003jrn.2 - 1 364 c.237G>A c.(235-237)GGG>GGA p.G79G PLK2_uc011cql.1_5'Flank NM_006622 NP_006613 Q9NYY3 PLK2_HUMAN polo-like kinase 2 79 positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity ovary(2)|lung(1)|skin(1) 4 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) AGTAGCGCTTCCCAGTCGTGG 0.711 NA 3 11 0 0 0.009096 0 0 HTR1A 3350 broad.mit.edu 37 5 63256719 63256719 + Nonsense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:63256719G>T uc011cqt.1 - 1 828 c.828C>A c.(826-828)TGC>TGA p.C276* NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 276 Cytoplasmic (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CGCCATTGGCGCACAGAGCAC 0.657 NA 14 59 9.31168e-06 1.10067e-05 0.001855 1 0 NAIP 4671 broad.mit.edu 37 5 70308510 70308510 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:70308510G>T uc003kar.1 - 4 951 c.233C>A c.(232-234)CCA>CAA p.P78Q NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.P78Q|NAIP_uc003kas.1_Intron NM_004536 NP_004527 Q13075 BIRC1_HUMAN NLR family, apoptosis inhibitory protein isoform 78 BIR 1. anti-apoptosis|apoptosis|nervous system development basolateral plasma membrane|cytoplasm caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(1) 1 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) CATCTCCTGTGGTATCCATGA 0.488 NA 9 44 1.12685e-05 1.32356e-05 0.004482 1 0 RGNEF 64283 broad.mit.edu 37 5 73153602 73153602 + Nonsense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:73153602A>T uc011csq.1 + 14 1923 c.1912A>T c.(1912-1914)AAG>TAG p.K638* RGNEF_uc003kcx.2_Nonsense_Mutation_p.K638*|RGNEF_uc010izf.2_Nonsense_Mutation_p.K638*|RGNEF_uc011csr.1_Nonsense_Mutation_p.K325* NM_001080479 NP_001073948 Q8N1W1 RGNEF_HUMAN Rho-guanine nucleotide exchange factor 638 cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction cytoplasm|plasma membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding 0 Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.25e-51) GAATAAATCAAAGGTAATTAA 0.313 NA 6 11 0 0 0.001984 0 0 SV2C 22987 broad.mit.edu 37 5 75427638 75427638 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:75427638G>T uc003kei.1 + 2 197 c.63G>T c.(61-63)GAG>GAT p.E21D NM_014979 NP_055794 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 21 Interaction with SYT1 (By similarity).|Cytoplasmic (Potential). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity skin(1) 1 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) TTGCCAGAGAGGTGAAGAAAC 0.458 NA 19 31 2.89027e-11 4.10098e-11 0.002299 1 0 ATP6AP1L 92270 broad.mit.edu 37 5 81608634 81608634 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:81608634G>T uc003khv.2 + 9 1661 c.336G>T c.(334-336)GGG>GGT p.G112G ATP6AP1L_uc003khw.2_Silent_p.G112G NM_001017971 NP_001017971 Q52LC2 VAS1L_HUMAN ATPase, H+ transporting, lysosomal accessory 112 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism 0 CGGATGATGGGTCGAGCCTGT 0.532 NA OREG0016689 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 22 0.00074312 0.000811321 0.006122 1 0 SRFBP1 153443 broad.mit.edu 37 5 121355030 121355030 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:121355030C>T uc003kst.1 + 5 418 c.346C>T c.(346-348)CTA>TTA p.L116L NM_152546 NP_689759 Q8NEF9 SRFB1_HUMAN serum response factor binding protein 1 116 Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent perinuclear region of cytoplasm 0 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517) GATAGATGTGCTAAAAGGTAT 0.313 NA 19 40 0 0 0.010504 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128797435 128797435 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:128797435C>A uc003kvb.1 + 2 714 c.714C>A c.(712-714)ACC>ACA p.T238T ADAMTS19_uc003kvc.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 238 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) CTTTCAGCACCTGTGGAGGTG 0.622 NA 18 30 2.39187e-15 3.71838e-15 0.008871 1 0 SPOCK1 6695 broad.mit.edu 37 5 136314451 136314451 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:136314451C>A uc003lbo.2 - 10 1403 c.1212G>T c.(1210-1212)CTG>CTT p.L404L SPOCK1_uc003lbp.2_Silent_p.L404L NM_004598 NP_004589 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains 404 cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CCTTTGGTCCCAGCTCCCGTT 0.522 NA 23 43 2.89027e-11 4.10098e-11 0.002299 1 0 PSD2 84249 broad.mit.edu 37 5 139219657 139219657 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:139219657G>T uc003leu.1 + 14 2219 c.2014G>T c.(2014-2016)GCG>TCG p.A672S NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 672 Potential. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGCTGACTGCGGAGCTGGC 0.562 NA 15 34 2.23348e-06 2.71339e-06 0.004007 1 0 PCDHA3 56145 broad.mit.edu 37 5 140181070 140181070 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:140181070C>A uc003lhf.2 + 1 288 c.288C>A c.(286-288)TGC>TGA p.C96* PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Nonsense_Mutation_p.C96* NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 96 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGAACTGTGCGGGCGGAGCG 0.552 NA 59 96 1.41595e-48 2.62861e-48 0.00361 1 0 PCDHA3 56145 broad.mit.edu 37 5 140181946 140181946 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:140181946G>T uc003lhf.2 + 1 1164 c.1164G>T c.(1162-1164)TCG>TCT p.S388S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.S388S NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 388 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCACCTGCTCGCTGACGCCCC 0.552 NA 40 49 1.22674e-20 2.04733e-20 0.00874 1 0 PCDHA9 9752 broad.mit.edu 37 5 140228219 140228219 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:140228219C>T uc003lhu.2 + 1 863 c.139C>T c.(139-141)CGC>TGC p.R47C PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.R47C NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 47 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCGTGGGCCGCATCGCGCA 0.647 Melanoma(55;1800 1972 14909) NA 22 45 0 0 0.004656 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229017 140229017 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:140229017A>T uc003lhu.2 + 1 1661 c.937A>T c.(937-939)AGT>TGT p.S313C PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.S313C NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 313 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTTGAAGAAAGTAGAGCACA 0.453 Melanoma(55;1800 1972 14909) NA 8 11 0 0 0.004007 0 0 PCDHA13 56136 broad.mit.edu 37 5 140262681 140262681 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:140262681T>A uc003lif.2 + 1 828 c.828T>A c.(826-828)GAT>GAA p.D276E PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.D276E|PCDHA13_uc003lid.2_Missense_Mutation_p.D276E NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 276 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAAATGGAGATATAGTTTACT 0.388 Melanoma(147;1739 1852 5500 27947 37288) NA 17 36 0 0 0.006122 0 0 PCDHB5 26167 broad.mit.edu 37 5 140517283 140517283 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:140517283G>C uc003liq.2 + 1 2484 c.2267G>C c.(2266-2268)GGA>GCA p.G756A NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 756 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGTTTGACCGGAGACTCAGGG 0.607 NA 48 76 0 0 0.00361 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563898 140563898 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:140563898G>T uc003liv.2 + 1 2919 c.1764G>T c.(1762-1764)AAG>AAT p.K588N PCDHB9_uc003liw.1_5'Flank NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 588 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGTGACCAAGGTGGTGGCGG 0.692 NA 14 15 3.32936e-07 4.1603e-07 0.006122 1 0 PCDHGA11 56105 broad.mit.edu 37 5 140802988 140802988 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:140802988G>C uc003lkq.1 + 1 2452 c.2194G>C c.(2194-2196)GGG>CGG p.G732R PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.G732R|PCDHGA11_uc003lkp.1_Intron|PCDHGB8P_uc011daz.1_5'Flank NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 732 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTGAAGGCGGGTTGGCAGG 0.587 NA 8 21 0 0 0.004482 0 0 AFAP1L1 134265 broad.mit.edu 37 5 148712335 148712335 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:148712335G>C uc003lqh.2 + 17 2184 c.2053G>C c.(2053-2055)GAC>CAC p.D685H AFAP1L1_uc010jgy.2_Missense_Mutation_p.D685H|AFAP1L1_uc003lqi.1_Missense_Mutation_p.D300H NM_152406 NP_689619 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 685 Potential. protein binding breast(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCCGGATTGACCTGGAGCT 0.592 NA 5 21 0 0 0.001168 0 0 TCOF1 6949 broad.mit.edu 37 5 149754931 149754931 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:149754931G>A uc003lry.2 + 11 1626 c.1518G>A c.(1516-1518)GTG>GTA p.V506V TCOF1_uc003lrw.2_Silent_p.V506V|TCOF1_uc011dch.1_Silent_p.V506V|TCOF1_uc003lrz.2_Silent_p.V506V|TCOF1_uc003lrx.2_Silent_p.V429V|TCOF1_uc003lsa.2_Silent_p.V429V|TCOF1_uc011dci.1_5'UTR NM_001135243 NP_001128715 Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 506 skeletal system development nucleolus protein binding|transporter activity ovary(2)|large_intestine(1) 3 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCCCCCAGGTGAAACCTGCCT 0.627 NA 26 31 0 0 0.007291 0 0 SLC36A3 285641 broad.mit.edu 37 5 150682911 150682911 + Nonsense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:150682911G>T uc003ltw.2 - 1 424 c.5C>A c.(4-6)TCA>TAA p.S2* GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltx.2_Nonsense_Mutation_p.S2* NM_181774 NP_861439 Q495N2 S36A3_HUMAN solute carrier family 36, member 3 isoform 2 2 Cytoplasmic (Potential). integral to membrane ovary(2)|skin(1) 3 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCAAGCAATGACATCTTCAA 0.517 NA 32 33 2.2871e-25 3.98233e-25 0.007835 1 0 ADAM19 8728 broad.mit.edu 37 5 156946857 156946857 + Missense_Mutation SNP C C A rs147812090 TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:156946857C>A uc003lwz.2 - 6 654 c.590G>T c.(589-591)CGA>CTA p.R197L ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_Missense_Mutation_p.R128L NM_033274 NP_150377 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 preproprotein 197 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCTGCGAGGTCGCTTCTTGGT 0.537 NA 26 30 4.74835e-14 7.16833e-14 0.002096 1 0 ODZ2 57451 broad.mit.edu 37 5 167379615 167379615 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:167379615G>T uc010jjd.2 + 4 735 c.735G>T c.(733-735)CAG>CAT p.Q245H ODZ2_uc003lzq.2_Missense_Mutation_p.Q124H|ODZ2_uc003lzr.3_Missense_Mutation_p.Q54H NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) ACCACAGCCAGTCGACTCTGA 0.562 NA 8 2 5.18039e-06 6.18734e-06 0.00308 1 0 PANK3 79646 broad.mit.edu 37 5 167991059 167991059 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:167991059C>A uc003lzz.1 - 4 947 c.647G>T c.(646-648)GGT>GTT p.G216V NM_024594 NP_078870 Q9H999 PANK3_HUMAN pantothenate kinase 3 216 coenzyme A biosynthetic process cytoplasm|nucleus ATP binding|pantothenate kinase activity ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188) CAGAAAGGTACCCCCTCCAAG 0.378 NA 33 31 6.50621e-10 8.96639e-10 0.002836 1 0 SNCB 6620 broad.mit.edu 37 5 176056603 176056603 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:176056603G>T uc003mep.2 - 3 496 c.53C>A c.(52-54)GCC>GAC p.A18D SNCB_uc003meq.2_Missense_Mutation_p.A18D|SNCB_uc010jke.1_Missense_Mutation_p.A18D|hsa-mir-4281|MI0015885_5'Flank|EIF4E1B_uc010jkf.1_5'Flank NM_001001502 NP_001001502 Q16143 SYUB_HUMAN beta-synuclein 18 calcium ion binding|phospholipase inhibitor activity ovary(1) 1 all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTTCTCCGCGGCTGCCACAAC 0.677 NA 6 11 5.18039e-06 6.18734e-06 0.00308 1 0 ZNF454 285676 broad.mit.edu 37 5 178392082 178392082 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr5:178392082A>T uc003mjo.1 + 5 948 c.677A>T c.(676-678)CAC>CTC p.H226L ZNF454_uc010jkz.1_Missense_Mutation_p.H226L NM_182594 NP_872400 Q8N9F8 ZN454_HUMAN zinc finger protein 454 226 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) AAAGCCTTTCACCAGAGTACG 0.373 NA 22 43 0 0 0.004656 0 0 IRF4 3662 broad.mit.edu 37 6 397159 397159 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:397159G>T uc003msz.3 + 5 657 c.544G>T c.(544-546)GTC>TTC p.V182F IRF4_uc010jne.1_Missense_Mutation_p.V182F|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.V181F|IRF4_uc003mtc.1_Missense_Mutation_p.V12F NM_002460 NP_002451 Q15306 IRF4_HUMAN interferon regulatory factor 4 182 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(1) 1 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) GAGGGACTACGTCCCGGATCA 0.567 NA T IGH@ MM 20 111 7.92952e-12 1.14812e-11 0.003954 1 0 IRF4 3662 broad.mit.edu 37 6 398857 398857 + Missense_Mutation SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:398857T>C uc003msz.3 + 6 780 c.667T>C c.(667-669)TGT>CGT p.C223R IRF4_uc010jne.1_Missense_Mutation_p.C223R|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.C222R|IRF4_uc003mtc.1_Missense_Mutation_p.C53R NM_002460 NP_002451 Q15306 IRF4_HUMAN interferon regulatory factor 4 223 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(1) 1 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) CTTTTATGCTTGTGCCCCACC 0.567 NA T IGH@ MM 7 20 0 0 0.006214 0 0 F13A1 2162 broad.mit.edu 37 6 6266977 6266977 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:6266977C>A uc003mwv.2 - 4 508 c.385G>T c.(385-387)GGA>TGA p.G129* F13A1_uc011dib.1_Nonsense_Mutation_p.G66* NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 129 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CCCCACTTTCCACTTTGTAAC 0.488 NA 12 58 1.49906e-05 1.74694e-05 0.00245 1 0 DSP 1832 broad.mit.edu 37 6 7570791 7570791 + Missense_Mutation SNP G G T rs148147581 byFrequency TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:7570791G>T uc003mxp.1 + 13 1975 c.1696G>T c.(1696-1698)GCC>TCC p.A566S DSP_uc003mxq.1_Missense_Mutation_p.A566S NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 566 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CATGACAATCGCCAAGGTATG 0.557 NA 18 57 7.41877e-09 9.84096e-09 0.001882 1 0 TFAP2A 7020 broad.mit.edu 37 6 10398806 10398806 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:10398806G>A uc003myr.2 - 7 1410 c.1158C>T c.(1156-1158)TTC>TTT p.F386F TFAP2A_uc003myq.2_Silent_p.F380F|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_3'UTR|TFAP2A_uc003myt.2_Silent_p.F382F NM_003220 NP_003211 P05549 AP2A_HUMAN transcription factor AP-2 alpha isoform a 386 H-S-H (helix-span-helix), dimerization. ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter centrosome|Golgi apparatus|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding ovary(1) 1 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) CGGGGCTGCCGAAGCCGTGGG 0.627 NA 59 132 0 0 0.00361 0 0 ELOVL2 54898 broad.mit.edu 37 6 10984073 10984073 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:10984073C>T uc003mzp.3 - 8 993 c.832G>A c.(832-834)GGT>AGT p.G278S NM_017770 NP_060240 Q9NXB9 ELOV2_HUMAN elongation of very long chain fatty acids-like 278 fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding 0 Breast(50;0.0418)|Ovarian(93;0.0919) all_hematologic(90;0.117) Epithelial(50;0.176) TTGGAAAAACCATTCTTCACT 0.363 NA 8 38 0 0 0.006214 0 0 GPLD1 2822 broad.mit.edu 37 6 24445964 24445964 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:24445964G>C uc003ned.1 - 19 2027 c.1916C>G c.(1915-1917)TCT>TGT p.S639C NM_001503 NP_001494 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific 639 FG-GAP 5. extracellular region glycosylphosphatidylinositol phospholipase D activity ovary(2)|kidney(1) 3 CTTGTCTCCAGAAATGGTAAA 0.473 NA 40 69 0 0 0.00361 0 0 ACOT13 55856 broad.mit.edu 37 6 24698141 24698141 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:24698141G>A uc003nek.2 + 2 341 c.112G>A c.(112-114)GTG>ATG p.V38M ACOT13_uc010jpv.2_Missense_Mutation_p.V15M NM_018473 NP_060943 Q9NPJ3 ACO13_HUMAN acyl-CoA thioesterase 13 isoform 1 38 protein homotetramerization mitochondrion acyl-CoA thioesterase activity 0 TCCTGGGAAAGTGATTTGTGA 0.388 NA 5 31 0 0 0.001168 0 0 HIST1H1E 3008 broad.mit.edu 37 6 26156882 26156882 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:26156882G>A uc003ngq.2 + 1 324 c.264G>A c.(262-264)GTG>GTA p.V88V HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank NM_005321 NP_005312 P10412 H14_HUMAN histone cluster 1, H1e 88 H15. nucleosome assembly nucleosome|nucleus DNA binding|protein binding large_intestine(1)|ovary(1) 2 AGAGCCTGGTGAGCAAGGGCA 0.597 NA 3 41 0 0 0.004672 0 0 HIST1H1E 3008 broad.mit.edu 37 6 26157278 26157278 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:26157278G>A uc003ngq.2 + 1 720 c.660G>A c.(658-660)TAG>TAA p.*220* HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank NM_005321 NP_005312 P10412 H14_HUMAN histone cluster 1, H1e 220 nucleosome assembly nucleosome|nucleus DNA binding|protein binding large_intestine(1)|ovary(1) 2 AGAAAAAGTAGAAAGTTCCTT 0.527 NA 6 20 0 0 0.001984 0 0 HIST1H2BH 8345 broad.mit.edu 37 6 26252107 26252107 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:26252107G>A uc003nhh.2 + 1 229 c.229G>A c.(229-231)GAG>AAG p.E77K HIST1H3F_uc003nhg.1_5'Flank NM_003524 NP_003515 Q93079 H2B1H_HUMAN histone cluster 1, H2bh 77 nucleosome assembly nucleosome|nucleus DNA binding ovary(3) 3 CATCGCCGGCGAGGCTTCCCG 0.592 NA 36 83 0 0 0.004878 0 0 SCAND3 114821 broad.mit.edu 37 6 28541251 28541251 + Missense_Mutation SNP T T A rs141088775 by1000genomes TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:28541251T>A uc003nlo.2 - 4 3033 c.2415A>T c.(2413-2415)CAA>CAT p.Q805H NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 805 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 cctgctttggttggcttttca 0 NA 12 37 0 0 0.00245 0 0 OR2H1 26716 broad.mit.edu 37 6 29430378 29430378 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:29430378G>T uc003nmi.2 + 3 1275 c.832G>T c.(832-834)GTG>TTG p.V278L OR2H1_uc003nmj.1_Missense_Mutation_p.V278L|OR2H1_uc010jri.1_Missense_Mutation_p.V200L NM_030883 NP_112145 Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, 278 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CTTCTATGCAGTGGGCACTCC 0.512 NA 13 32 2.31682e-05 2.68102e-05 0.003163 1 0 MOG 4340 broad.mit.edu 37 6 29627401 29627401 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:29627401C>A uc003nnf.2 + 2 572 c.394C>A c.(394-396)CAT>AAT p.H132N MOG_uc003qzk.1_Missense_Mutation_p.H132N|MOG_uc010kle.1_Intron|MOG_uc010klf.1_Intron|MOG_uc003nmy.1_Missense_Mutation_p.H132N|MOG_uc003nmz.2_Missense_Mutation_p.H132N|MOG_uc011dlt.1_Missense_Mutation_p.H62N|MOG_uc003nna.2_Intron|MOG_uc011dlu.1_Intron|MOG_uc011dlv.1_Intron|MOG_uc003nnd.2_Missense_Mutation_p.H132N|MOG_uc003nne.2_Missense_Mutation_p.H132N|MOG_uc003nng.2_Missense_Mutation_p.H132N|MOG_uc003nnh.2_Missense_Mutation_p.H132N|MOG_uc003nni.2_Missense_Mutation_p.H132N|MOG_uc003nnj.2_Missense_Mutation_p.H132N|MOG_uc003nnk.2_Missense_Mutation_p.H132N NM_206809 NP_996532 Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein isoform 132 Ig-like V-type.|Extracellular (Potential). cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane ovary(1) 1 CTTCCGAGATCATTCTTACCA 0.433 NA 7 28 2.0095e-06 2.44928e-06 0.001984 1 0 GNL1 2794 broad.mit.edu 37 6 30521208 30521208 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:30521208G>A uc003nqh.2 - 6 1755 c.727C>T c.(727-729)CAT>TAT p.H243Y GNL1_uc011dmi.1_Missense_Mutation_p.H105Y|GNL1_uc011dmj.1_Missense_Mutation_p.H241Y|GNL1_uc011dmk.1_Intron NM_005275 NP_005266 P36915 GNL1_HUMAN guanine nucleotide binding protein-like 1 243 response to DNA damage stimulus|signal transduction|T cell mediated immunity extracellular space|intracellular GTP binding|structural molecule activity ovary(3) 3 TAGTGTTGATGGAAATAATGC 0.552 NA 33 77 0 0 0.004878 0 0 MSH5 4439 broad.mit.edu 37 6 31725979 31725979 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:31725979G>T uc003nwv.1 + 13 1131 c.1052G>T c.(1051-1053)CGC>CTC p.R351L MSH5_uc003nwt.1_Missense_Mutation_p.R368L|MSH5_uc003nwu.1_Missense_Mutation_p.R351L|MSH5_uc003nww.1_Missense_Mutation_p.R351L|MSH5_uc003nwx.1_Missense_Mutation_p.R368L|MSH5_uc011dof.1_Missense_Mutation_p.R50L|MSH5_uc003nwy.1_Missense_Mutation_p.R25L|MSH5_uc003nwz.3_5'Flank NM_172166 NP_751898 O43196 MSH5_HUMAN mutS homolog 5 isoform c 351 chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding ovary(2)|breast(1) 3 GATGCCTGCCGCTCCCTGCCG 0.562 NA Direct_reversal_of_damage|MMR 6 51 8.12818e-05 9.21236e-05 0.001984 1 0 NOTCH4 4855 broad.mit.edu 37 6 32178620 32178620 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:32178620C>A uc003obb.2 - 18 2913 c.2774G>T c.(2773-2775)AGC>ATC p.S925I NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 925 EGF-like 23.|Extracellular (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 CTGGCACAGGCTGCCTTGGAA 0.622 NA 19 28 2.4624e-09 3.32569e-09 0.008871 1 0 NOTCH4 4855 broad.mit.edu 37 6 32190416 32190416 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:32190416C>A uc003obb.2 - 3 462 c.323G>T c.(322-324)GGC>GTC p.G108V NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Missense_Mutation_p.G108V NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 108 Extracellular (Potential).|EGF-like 2. 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 ACCAGTGAAGCCAGGGAGGCA 0.622 NA 12 40 0.000132079 0.000149241 0.008871 1 0 BTNL2 56244 broad.mit.edu 37 6 32362549 32362549 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:32362549C>A uc003obg.1 - 6 1332 c.1332G>T c.(1330-1332)GAG>GAT p.E444D BTNL2_uc010jty.1_Missense_Mutation_p.E167D|BTNL2_uc010jtz.1_RNA|BTNL2_uc010jua.1_Missense_Mutation_p.E234D NM_019602 NP_062548 Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 444 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 CGATTTTCTCCTCGCCCAAAA 0.458 NA 7 38 1.76689e-08 2.32305e-08 0.006214 1 0 TULP1 7287 broad.mit.edu 37 6 35477640 35477640 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:35477640C>G uc003okv.3 - 6 577 c.565G>C c.(565-567)GGG>CGG p.G189R TULP1_uc003okw.3_Missense_Mutation_p.G136R NM_003322 NP_003313 O00294 TULP1_HUMAN tubby like protein 1 189 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding ovary(2)|central_nervous_system(1) 3 GTCCCCTCCCCTGCTGGAGCT 0.567 GBM(55;1027 1091 11115 23439) NA 39 74 0 0 0.002852 0 0 MTCH1 23787 broad.mit.edu 37 6 36938181 36938181 + Splice_Site SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:36938181C>A uc003ond.1 - 10 1022 c.1022_splice c.e10+1 p.G341_splice MTCH1_uc003onc.1_Splice_Site_p.G324_splice|MTCH1_uc010jwo.1_Splice_Site|MTCH1_uc003one.3_Splice_Site_p.G341_splice|MTCH1_uc011dtt.1_Splice_Site_p.G156_splice NM_014341 NP_055156 Q9NZJ7 MTCH1_HUMAN mitochondrial carrier homolog 1 activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport integral to membrane|mitochondrial inner membrane protein binding 0 CGCACACCTACCCGCAGTTGT 0.612 NA 35 83 9.39024e-22 1.59035e-21 0.009718 1 0 DNAH8 1769 broad.mit.edu 37 6 38813461 38813461 + Nonsense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:38813461G>T uc003ooe.1 + 34 4906 c.4306G>T c.(4306-4308)GAG>TAG p.E1436* NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 GGGAAAAGGAGAGCTCCTGCT 0.408 NA 21 46 2.39556e-15 3.71838e-15 0.00278 1 0 DNAH8 1769 broad.mit.edu 37 6 38942254 38942254 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:38942254C>A uc003ooe.1 + 83 12732 c.12132C>A c.(12130-12132)CCC>CCA p.P4044P DNAH8_uc003oog.1_Silent_p.P493P NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 GTAATTTACCCATGTGGAAGC 0.443 NA 21 42 4.72057e-08 6.12521e-08 0.003954 1 0 KCNK5 8645 broad.mit.edu 37 6 39162477 39162477 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:39162477G>C uc003oon.2 - 3 722 c.358C>G c.(358-360)CTC>GTC p.L120V NM_003740 NP_003731 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 120 Helical; (Potential). excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 ACCCCGAAGAGACCATAGAAA 0.587 NA 31 85 0 0 0.007835 0 0 KCNK16 83795 broad.mit.edu 37 6 39285716 39285716 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:39285716A>T uc003ooq.2 - 3 355 c.341T>A c.(340-342)CTG>CAG p.L114Q KCNK16_uc003oor.3_Missense_Mutation_p.L114Q|KCNK16_uc010jwy.2_Missense_Mutation_p.L114Q|KCNK16_uc011dtz.1_Missense_Mutation_p.L114Q NM_032115 NP_115491 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 114 integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(1) 3 GCTGGGTGCCAGGTTCCCATA 0.567 NA 14 19 0 0 0.007413 0 0 KIF6 221458 broad.mit.edu 37 6 39682526 39682526 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:39682526C>A uc003oot.2 - 3 288 c.193G>T c.(193-195)GAT>TAT p.D65Y KIF6_uc011dua.1_Missense_Mutation_p.D65Y|KIF6_uc010jxb.1_Missense_Mutation_p.D65Y|KIF6_uc003oou.2_RNA NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN kinesin family member 6 65 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1) 3 GCATCCTGATCAAAAATTCTT 0.358 NA 7 27 3.09899e-07 3.88222e-07 0.004482 1 0 UNC5CL 222643 broad.mit.edu 37 6 41001699 41001699 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:41001699C>T uc003opi.2 - 3 696 c.607G>A c.(607-609)GCC>ACC p.A203T UNC5CL_uc010jxe.1_Missense_Mutation_p.A203T NM_173561 NP_775832 Q8IV45 UN5CL_HUMAN unc-5 homolog C-like 203 ZU5.|Cytoplasmic (Potential).|Interaction with RELA and NFKB1. signal transduction cytoplasm|integral to membrane ovary(2) 2 Ovarian(28;0.0418)|Colorectal(47;0.196) CATACCTTGGCATCCAGCAGG 0.637 NA 9 19 0 0 0.004482 0 0 NFYA 4800 broad.mit.edu 37 6 41060812 41060812 + Silent SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:41060812A>G uc003opo.2 + 8 1054 c.876A>G c.(874-876)CCA>CCG p.P292P NFYA_uc003opp.2_Silent_p.P263P|NFYA_uc003opq.2_Silent_p.P263P NM_002505 NP_002496 P23511 NFYA_HUMAN nuclear transcription factor Y, alpha isoform 1 292 transcription from RNA polymerase II promoter CCAAT-binding factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(28;0.0418)|Colorectal(47;0.196) GGAAAATTCCAAAGGAGAGAA 0.413 NA 5 26 0 0 0.001984 0 0 PGC 5225 broad.mit.edu 37 6 41704680 41704680 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:41704680G>T uc003ora.1 - 9 1126 c.1077C>A c.(1075-1077)CCC>CCA p.P359P TFEB_uc003oqs.1_5'Flank|TFEB_uc003oqt.1_5'Flank|TFEB_uc003oqu.1_5'Flank|TFEB_uc010jxq.1_5'Flank NM_002630 NP_002621 P20142 PEPC_HUMAN progastricsin (pepsinogen C) precursor 359 digestion|proteolysis extracellular space aspartic-type endopeptidase activity 0 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) GGATCCACAGGGGCTGGCCGT 0.537 NA 16 18 2.5808e-16 4.09567e-16 0.006122 1 0 PGC 5225 broad.mit.edu 37 6 41710072 41710072 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:41710072C>G uc003ora.1 - 5 652 c.603G>C c.(601-603)CAG>CAC p.Q201H NM_002630 NP_002621 P20142 PEPC_HUMAN progastricsin (pepsinogen C) precursor 201 digestion|proteolysis extracellular space aspartic-type endopeptidase activity 0 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) GGGCGCCCTCCTGCACCATGC 0.647 NA 24 71 0 0 0.005443 0 0 TRERF1 55809 broad.mit.edu 37 6 42225893 42225893 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:42225893C>G uc003osd.2 - 10 2879 c.2316G>C c.(2314-2316)GAG>GAC p.E772D TRERF1_uc011duq.1_Missense_Mutation_p.E689D|TRERF1_uc003osb.2_Missense_Mutation_p.E528D|TRERF1_uc003osc.2_Missense_Mutation_p.E528D|TRERF1_uc003ose.2_Missense_Mutation_p.E792D NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 772 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTACAGTCTGCTCTCCAGGCC 0.433 NA 8 38 0 0 0.000978 0 0 UBR2 23304 broad.mit.edu 37 6 42541585 42541586 + Missense_Mutation DNP GG GG TT TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:42541585_42541586GG>TT uc011dur.1 + 2 192_193 c.192_193GG>TT c.(190-195)CTGGCA>CTTTCA p.A65S UBR2_uc003osf.2_Missense_Mutation_p.A65S NM_015255 NP_056070 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 65 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding ovary(3)|pancreas(1) 4 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) AAGACATGCTGGCACAGCATGT 0.45 NA 20 39 0 0 0.004672 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44219848 44219848 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:44219848C>T uc003oxa.1 + 10 1659 c.1575C>T c.(1573-1575)CTC>CTT p.L525L HSP90AB1_uc011dvr.1_Silent_p.L515L|HSP90AB1_uc003oxb.1_Silent_p.L525L|HSP90AB1_uc011dvs.1_Silent_p.L345L|HSP90AB1_uc003oxc.1_Silent_p.L163L NM_007355 NP_031381 P08238 HS90B_HUMAN heat shock 90kDa protein 1, beta 525 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding lung(3)|breast(1) 4 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TGCAGCAGCTCAAGGAATTTG 0.537 NA 4 25 0 0 0.009096 0 0 TCTE1 202500 broad.mit.edu 37 6 44249877 44249877 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:44249877G>T uc003oxi.2 - 4 1422 c.1266C>A c.(1264-1266)AGC>AGA p.S422R SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_182539 NP_872345 Q5JU00 TCTE1_HUMAN t-complex-associated testis expressed 1 422 LRR 5. ovary(2)|skin(2) 4 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ACAGGTTGATGCTGGTGAGTG 0.582 NA 18 35 0.00887093 0.00932231 0.008871 1 0 SUPT3H 8464 broad.mit.edu 37 6 44988328 44988328 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:44988328C>A uc003oxo.2 - 6 579 c.261G>T c.(259-261)AGG>AGT p.R87S SUPT3H_uc003oxn.1_Missense_Mutation_p.R76S|SUPT3H_uc011dvv.1_5'UTR|SUPT3H_uc003oxp.2_Missense_Mutation_p.R76S|SUPT3H_uc011dvw.1_5'UTR NM_181356 NP_852001 O75486 SUPT3_HUMAN suppressor of Ty 3 homolog isoform 2 158 histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent STAGA complex|transcription factor TFTC complex DNA binding|transcription coactivator activity ovary(2)|breast(1) 3 GAGTGATTACCCTTGCTCCCC 0.313 NA 18 47 1.66031e-10 2.31168e-10 0.003954 1 0 GPR110 266977 broad.mit.edu 37 6 46995498 46995498 + Splice_Site SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:46995498C>G uc003oyt.2 - 3 269 c.70_splice c.e3-1 p.K24_splice GPR110_uc011dwl.1_Intron|GPR110_uc003oyu.1_Splice_Site_p.K24_splice NM_153840 NP_722582 Q5T601 GP110_HUMAN G-protein coupled receptor 110 isoform 1 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|pancreas(1) 3 CATCATTTTTCTGTTAAAAAG 0.274 NA 7 28 0 0 0.00308 0 0 CRISP2 7180 broad.mit.edu 37 6 49660511 49660511 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:49660511C>A uc003ozq.2 - 10 963 c.707G>T c.(706-708)TGC>TTC p.C236F CRISP2_uc003ozl.2_Missense_Mutation_p.C236F|CRISP2_uc003ozn.2_Missense_Mutation_p.C236F|CRISP2_uc003ozr.2_Missense_Mutation_p.C236F|CRISP2_uc003ozo.2_Missense_Mutation_p.C236F|CRISP2_uc003ozm.2_Missense_Mutation_p.C271F|CRISP2_uc003ozp.2_Missense_Mutation_p.C236F NM_001142408 NP_001135880 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 precursor 236 extracellular space skin(1) 1 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) CTCACATAGGCAAGTAGCCTT 0.398 NA 12 56 0.00136819 0.0014818 0.001368 1 0 CRISP3 10321 broad.mit.edu 37 6 49701533 49701533 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:49701533C>T uc003ozs.2 - 5 321 c.306G>A c.(304-306)ATG>ATA p.M102I NM_006061 NP_006052 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 precursor 102 innate immune response proteinaceous extracellular matrix|specific granule skin(2) 2 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) AGGCACTTGACATGTAGAGAT 0.438 NA 23 60 0 0 0.005443 0 0 PGK2 5232 broad.mit.edu 37 6 49754589 49754589 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:49754589C>A uc003ozu.2 - 1 419 c.312G>T c.(310-312)GTG>GTT p.V104V NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 104 glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) AGGCTTTCTCCACTTCTGCGC 0.527 NA 20 53 1.28384e-07 1.62751e-07 0.001882 1 0 PGK2 5232 broad.mit.edu 37 6 49754737 49754737 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:49754737G>T uc003ozu.2 - 1 271 c.164C>A c.(163-165)GCC>GAC p.A55D NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 55 glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) TACTGCCTTGGCTCCATTGTC 0.463 NA 20 42 2.70639e-06 3.26922e-06 0.002299 1 0 CRISP1 167 broad.mit.edu 37 6 49815968 49815968 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:49815968C>A uc003ozw.2 - 4 319 c.240G>T c.(238-240)AAG>AAT p.K80N CRISP1_uc003ozx.2_Missense_Mutation_p.K80N NM_001131 NP_001122 P54107 CRIS1_HUMAN acidic epididymal glycoprotein-like 1 isoform 1 80 fusion of sperm to egg plasma membrane extracellular space 0 Lung NSC(77;0.0358) TATCACAATACTTTGAAAAAA 0.348 NA 21 70 4.87955e-14 7.35147e-14 0.005443 1 0 PKHD1 5314 broad.mit.edu 37 6 51875134 51875134 + Silent SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:51875134T>A uc003pah.1 - 35 6000 c.5724A>T c.(5722-5724)ATA>ATT p.I1908I PKHD1_uc003pai.2_Silent_p.I1908I NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1908 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) AGCGTTTCCGTATCTCAGTAA 0.378 NA 12 28 0 0 0.001855 0 0 DST 667 broad.mit.edu 37 6 56510775 56510775 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:56510775C>A uc003pdf.2 - 14 1596 c.1568G>T c.(1567-1569)GGA>GTA p.G523V DST_uc003pcz.3_Missense_Mutation_p.G345V|DST_uc011dxj.1_Missense_Mutation_p.G374V|DST_uc011dxk.1_Missense_Mutation_p.G385V|DST_uc011dxl.1_Missense_Mutation_p.G374V|DST_uc003pde.2_Missense_Mutation_p.G461V NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 345 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTTGATGCGTCCAAATTCTAT 0.358 NA 3 8 0.004672 0.00493414 0.004672 1 0 EYS 346007 broad.mit.edu 37 6 66205301 66205301 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:66205301C>G uc011dxu.1 - 4 541 c.3G>C c.(1-3)ATG>ATC p.M1I EYS_uc003peq.2_Missense_Mutation_p.M1I|EYS_uc003per.1_Missense_Mutation_p.M1I|EYS_uc010kaj.1_Intron NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 1 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 ATTTGTCAGTCATTTTCGGGT 0.264 NA 6 19 0 0 0.001984 0 0 BAI3 577 broad.mit.edu 37 6 69640461 69640461 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:69640461G>A uc003pev.3 + 4 1216 c.768G>A c.(766-768)ATG>ATA p.M256I BAI3_uc010kak.2_Missense_Mutation_p.M256I NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 256 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) AATTTGGAATGATGGGAGATC 0.363 NA 9 16 0 0 0.004482 0 0 COL19A1 1310 broad.mit.edu 37 6 70851915 70851915 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:70851915G>T uc003pfc.1 + 22 1636 c.1519G>T c.(1519-1521)GGT>TGT p.G507C COL19A1_uc010kam.1_Missense_Mutation_p.G403C NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 507 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 ACGTGTTTAGGGTGAACCTGG 0.388 NA 10 17 5.16669e-11 7.3031e-11 0.000978 1 0 FAM135A 57579 broad.mit.edu 37 6 71246009 71246009 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:71246009A>T uc003pfj.2 + 17 4145 c.4012A>T c.(4012-4014)ACA>TCA p.T1338S FAM135A_uc003pfi.2_Missense_Mutation_p.T1142S|FAM135A_uc003pfh.2_Missense_Mutation_p.T1125S|FAM135A_uc003pfl.2_Missense_Mutation_p.T1005S|FAM135A_uc003pfn.2_Missense_Mutation_p.T544S|FAM135A_uc003pfo.1_Missense_Mutation_p.T709S|FAM135A_uc010kan.1_Missense_Mutation_p.T117S NM_001162529 NP_001156001 Q9P2D6 F135A_HUMAN hypothetical protein LOC57579 isoform c 1338 central_nervous_system(1) 1 TTCAGTGCTTACAAGGCCAAG 0.343 NA 5 55 0 0 0.001168 0 0 SLC17A5 26503 broad.mit.edu 37 6 74331599 74331599 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:74331599G>T uc003phn.3 - 7 1034 c.906C>A c.(904-906)AAC>AAA p.N302K SLC17A5_uc010kax.2_Intron|SLC17A5_uc010kay.2_RNA|SLC17A5_uc011dyo.1_Missense_Mutation_p.N171K NM_012434 NP_036566 Q9NRA2 S17A5_HUMAN sialin 302 anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity skin(5)|central_nervous_system(1) 6 AAAAAGTCCAGTTGTAAGAAA 0.373 NA 9 33 6.40141e-05 7.28859e-05 0.000978 1 0 ELOVL4 6785 broad.mit.edu 37 6 80634726 80634726 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:80634726C>A uc003pja.3 - 3 631 c.312G>T c.(310-312)GCG>GCT p.A104A ELOVL4_uc011dyt.1_Intron NM_022726 NP_073563 Q9GZR5 ELOV4_HUMAN elongation of very long chain fatty acids-like 104 fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups ovary(1)|skin(1) 2 all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011) BRCA - Breast invasive adenocarcinoma(397;0.0168) Alpha-Linolenic Acid(DB00132) AGCTATATCCCGCATTATATG 0.279 NA 21 37 7.92952e-12 1.14812e-11 0.003954 1 0 HTR1E 3354 broad.mit.edu 37 6 87725103 87725103 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:87725103G>A uc003pli.2 + 2 754 c.51G>A c.(49-51)AAG>AAA p.K17K NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 17 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) TAAGACCCAAGACCATCACTG 0.478 NA 12 35 0 0 0.001855 0 0 GPR63 81491 broad.mit.edu 37 6 97247545 97247545 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:97247545C>A uc010kcl.2 - 3 541 c.63G>T c.(61-63)GTG>GTT p.V21V GPR63_uc003pou.2_Silent_p.V21V NM_001143957 NP_001137429 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 21 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) TGTTTTCATACACGACAAATG 0.468 NA 11 81 7.03913e-09 9.3457e-09 0.001368 1 0 PRDM1 639 broad.mit.edu 37 6 106553510 106553510 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:106553510C>G uc003prd.2 + 5 1709 c.1475C>G c.(1474-1476)CCC>CGC p.P492R PRDM1_uc003pre.2_Missense_Mutation_p.P358R NM_001198 NP_001189 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain isoform 492 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1) 56 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) GTCCCGGCGCCCCACAGTGCC 0.682 NA D|N|Mis|F|S DLBCL 16 34 0 0 0.004007 0 0 WASF1 8936 broad.mit.edu 37 6 110422792 110422792 + Missense_Mutation SNP T T G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:110422792T>G uc003ptv.1 - 10 2358 c.1521A>C c.(1519-1521)AAA>AAC p.K507N WASF1_uc003ptw.1_Missense_Mutation_p.K507N|WASF1_uc003ptx.1_Missense_Mutation_p.K507N|WASF1_uc003pty.1_Missense_Mutation_p.K507N NM_003931 NP_003922 Q92558 WASF1_HUMAN Wiskott-Aldrich syndrome protein family member 507 WH2. actin filament polymerization|cellular component movement actin cytoskeleton actin binding 0 all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687) GAAAATTACCTTTTCGTATTG 0.383 NA 12 73 0 0 0.003163 0 0 DDO 8528 broad.mit.edu 37 6 110734560 110734560 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:110734560C>A uc003puc.2 - 2 194 c.190G>T c.(190-192)GAC>TAC p.D64Y C6orf186_uc003pub.2_5'Flank|DDO_uc003pud.2_Missense_Mutation_p.D64Y NM_003649 NP_003640 Q99489 OXDD_HUMAN D-aspartate oxidase isoform a 36 FAD (By similarity). aspartate catabolic process peroxisome binding|D-amino-acid oxidase activity|D-aspartate oxidase activity ovary(2)|breast(1) 3 all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327) all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046) GTAAACTTGTCTGAAATGATG 0.517 NA 32 125 2.32173e-10 3.22656e-10 0.004878 1 0 RFX6 222546 broad.mit.edu 37 6 117237403 117237403 + Missense_Mutation SNP G G T rs146184246 TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:117237403G>T uc003pxm.2 + 9 961 c.898G>T c.(898-900)GAC>TAC p.D300Y NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 300 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 AGGAATGCCTGACCATCTCCT 0.338 NA 36 85 3.54561e-26 6.22469e-26 0.009718 1 0 MAN1A1 4121 broad.mit.edu 37 6 119669822 119669822 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:119669822C>A uc003pym.1 - 2 851 c.409G>T c.(409-411)GAG>TAG p.E137* MAN1A1_uc010kei.1_Nonsense_Mutation_p.E137* NM_005907 NP_005898 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 137 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) TGCAGGGTCTCCTTGGCTTCC 0.617 Ovarian(136;8 1825 12608 33541 47587) NA 9 39 9.70103e-10 1.33322e-09 0.008291 1 0 THEMIS 387357 broad.mit.edu 37 6 128134522 128134522 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:128134522C>G uc003qbi.2 - 5 1583 c.1264G>C c.(1264-1266)GAG>CAG p.E422Q THEMIS_uc010kfa.2_Missense_Mutation_p.E325Q|THEMIS_uc011ebt.1_Missense_Mutation_p.E422Q|THEMIS_uc010kfb.2_Missense_Mutation_p.E387Q NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 422 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 AGCGCAGCCTCATAGGACTTT 0.438 NA 14 35 0 0 0.003163 0 0 THEMIS 387357 broad.mit.edu 37 6 128134779 128134779 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:128134779G>T uc003qbi.2 - 5 1326 c.1007C>A c.(1006-1008)ACT>AAT p.T336N THEMIS_uc010kfa.2_Missense_Mutation_p.T239N|THEMIS_uc011ebt.1_Missense_Mutation_p.T336N|THEMIS_uc010kfb.2_Missense_Mutation_p.T301N NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 336 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 TTTATAGCTAGTGGGGATCAA 0.468 NA 11 41 0.000151284 0.000170553 0.001855 1 0 LAMA2 3908 broad.mit.edu 37 6 129573242 129573242 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:129573242G>T uc003qbn.2 + 14 2003 c.1898G>T c.(1897-1899)AGC>ATC p.S633I LAMA2_uc003qbo.2_Missense_Mutation_p.S633I NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 633 Laminin IV type A 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AATGACTTGAGCATCAGCACA 0.358 NA 5 24 3.59834e-05 4.13823e-05 0.001168 1 0 LAMA2 3908 broad.mit.edu 37 6 129618855 129618855 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:129618855C>A uc003qbn.2 + 21 2987 c.2882C>A c.(2881-2883)GCA>GAA p.A961E LAMA2_uc003qbo.2_Missense_Mutation_p.A961E NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 961 Laminin EGF-like 9. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CTACAATCAGCAAGGGGCTGT 0.453 NA 8 49 1.58986e-06 1.94739e-06 0.008291 1 0 MOXD1 26002 broad.mit.edu 37 6 132695876 132695876 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:132695876G>A uc003qdf.2 - 2 404 c.305C>T c.(304-306)GCT>GTT p.A102V MOXD1_uc003qde.2_Missense_Mutation_p.A34V NM_015529 NP_056344 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 isoform 2 102 Lumenal (Potential).|DOMON. catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity ovary(1) 1 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) ATCTTGCTGAGCATCTTTTTT 0.323 NA 11 34 0 0 0.008291 0 0 TCF21 6943 broad.mit.edu 37 6 134210578 134210578 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:134210578G>T uc003qei.3 + 1 319 c.43G>T c.(43-45)GTG>TTG p.V15L uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.V15L NM_003206 NP_003197 O43680 TCF21_HUMAN transcription factor 21 15 branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity 0 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) CCTTCAAGAGGTGGAGATGTT 0.423 NA 32 81 3.21399e-22 5.4682e-22 0.004878 1 0 GPR126 57211 broad.mit.edu 37 6 142732545 142732545 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:142732545G>A uc010khc.2 + 18 2949 c.2538G>A c.(2536-2538)CTG>CTA p.L846L GPR126_uc010khd.2_Silent_p.L818L|GPR126_uc010khe.2_Silent_p.L846L|GPR126_uc010khf.2_Silent_p.L818L NM_020455 NP_065188 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 alpha 1 846 GPS.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) TTGGAGTTCTGATGGTAAGGG 0.403 NA 17 106 0 0 0.007413 0 0 LATS1 9113 broad.mit.edu 37 6 150001244 150001244 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:150001244C>A uc003qmu.1 - 5 2908 c.2360G>T c.(2359-2361)GGG>GTG p.G787V LATS1_uc010kif.1_Missense_Mutation_p.G682V|LATS1_uc003qmv.1_Missense_Mutation_p.G787V NM_004690 NP_004681 O95835 LATS1_HUMAN LATS homolog 1 787 Protein kinase. cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) CATATCACCCCCAGGAATGTA 0.388 NA 21 77 1.50039e-11 2.15148e-11 0.001882 1 0 NUP43 348995 broad.mit.edu 37 6 150057682 150057682 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:150057682C>G uc003qmz.2 - 6 772 c.715G>C c.(715-717)GAT>CAT p.D239H NUP43_uc003qmx.3_RNA|NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Intron NM_198887 NP_942590 Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 239 WD 5. carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding upper_aerodigestive_tract(1) 1 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101) AACATTCCATCTTGGCCACCA 0.448 NA 11 36 0 0 0.001368 0 0 AKAP12 9590 broad.mit.edu 37 6 151672116 151672116 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:151672116C>A uc011eep.1 + 4 2830 c.2590C>A c.(2590-2592)CAA>AAA p.Q864K AKAP12_uc003qoe.2_Missense_Mutation_p.Q864K|AKAP12_uc003qof.2_Missense_Mutation_p.Q766K|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.Q759K NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 864 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) GGAGGCACAGCAAGCCCAAAA 0.577 Melanoma(141;1616 1805 10049 24534 51979) NA 12 64 0.00136819 0.0014818 0.001368 1 0 CLDN20 49861 broad.mit.edu 37 6 155597019 155597019 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:155597019T>A uc003qql.1 + 2 546 c.166T>A c.(166-168)TGG>AGG p.W56R TFB1M_uc003qqj.3_Intron|TFB1M_uc003qqk.2_Intron NM_001001346 NP_001001346 P56880 CLD20_HUMAN claudin 20 56 Extracellular (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity 0 OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114) GGACTGTACGTGGTACAGCAC 0.567 NA 27 51 0 0 0.003271 0 0 ZDHHC14 79683 broad.mit.edu 37 6 158053870 158053871 + Nonsense_Mutation DNP AC AC TT TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 AC AC - - AC AC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:158053870_158053871AC>TT uc003qqt.2 + 5 1205_1206 c.708_709AC>TT c.(706-711)TCACAG>TCTTAG p.Q237* ZDHHC14_uc003qqs.2_Nonsense_Mutation_p.Q237*|ZDHHC14_uc003qqu.1_RNA NM_024630 NP_078906 Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 isoform 1 237 integral to membrane acyltransferase activity|zinc ion binding ovary(1)|skin(1) 2 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) CCACAGGTTCACAGCAAACAGG 0.391 NA 76 228 0 0 0.004672 0 0 IGF2R 3482 broad.mit.edu 37 6 160430102 160430102 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:160430102G>C uc003qta.2 + 3 498 c.350G>C c.(349-351)TGT>TCT p.C117S NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 117 1.|Lumenal (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) ACAGTGAGCTGTGACCAGCAA 0.448 NA 31 42 0 0 0.002445 0 0 PARK2 5071 broad.mit.edu 37 6 161969912 161969912 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:161969912C>A uc003qtx.3 - 9 1191 c.1057G>T c.(1057-1059)GAA>TAA p.E353* PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Nonsense_Mutation_p.E162*|PARK2_uc003qtw.3_Nonsense_Mutation_p.E162*|PARK2_uc003qty.3_Nonsense_Mutation_p.E325*|PARK2_uc003qtz.3_Nonsense_Mutation_p.E204*|PARK2_uc010kke.1_Nonsense_Mutation_p.E372*|PARK2_uc011egf.1_Nonsense_Mutation_p.E27* NM_004562 NP_004553 O60260 PRKN2_HUMAN parkin isoform 1 353 IBR-type. aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding upper_aerodigestive_tract(1) 1 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) TTGCCCCCTTCGCAGGTGACT 0.622 NA 45 107 2.65591e-33 4.7755e-33 0.00361 1 0 FGFR1OP 11116 broad.mit.edu 37 6 167416710 167416710 + Silent SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:167416710G>C uc003qvj.2 + 3 271 c.186G>C c.(184-186)CTG>CTC p.L62L CCR6_uc003qvl.2_5'UTR|FGFR1OP_uc011egp.1_Silent_p.L62L|FGFR1OP_uc003qvk.2_Silent_p.L62L NM_007045 NP_008976 O95684 FR1OP_HUMAN FGFR1 oncogene partner isoform a 62 G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation centrosome|cytosol|nucleus|perinuclear region of cytoplasm protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity ovary(1) 1 Breast(66;1.48e-05)|Ovarian(120;0.0607) OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231) ATGAGAGCCTGAAAAAGTTTT 0.284 NA T FGFR1 MPD|NHL 4 19 0 0 0.009096 0 0 UNC93A 54346 broad.mit.edu 37 6 167721356 167721356 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:167721356C>A uc003qvq.2 + 7 1241 c.1066C>A c.(1066-1068)CTG>ATG p.L356M UNC93A_uc003qvr.2_Missense_Mutation_p.L314M NM_018974 NP_061847 Q86WB7 UN93A_HUMAN unc-93 homolog A isoform 1 356 Helical; (Potential). integral to membrane|plasma membrane 0 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) ATTCTCTGGCCTGTGGGGCGT 0.632 NA 7 48 2.7689e-08 3.62443e-08 0.001984 1 0 TBP 6908 broad.mit.edu 37 6 170871116 170871116 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:170871116G>A uc003qxt.2 + 3 524 c.292G>A c.(292-294)GCA>ACA p.A98T TBP_uc003qxu.2_Missense_Mutation_p.A98T|TBP_uc011ehf.1_Missense_Mutation_p.A78T|TBP_uc011ehg.1_Missense_Mutation_p.A98T NM_003194 NP_003185 P20226 TBP_HUMAN TATA box binding protein 98 cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) acaggcagtggcagctgcagc 0.264 NA 15 32 0 0 0.004007 0 0 SDK1 221935 broad.mit.edu 37 7 4281481 4281481 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:4281481G>T uc003smx.2 + 43 6326 c.6187G>T c.(6187-6189)GCC>TCC p.A2063S SDK1_uc010kso.2_Missense_Mutation_p.A1319S|SDK1_uc003smy.2_Missense_Mutation_p.A550S|SDK1_uc003smz.2_Missense_Mutation_p.A123S NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 2063 Extracellular (Potential).|Cytoplasmic (Potential). cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) AGGATTTGCTGCCCTGGAGCT 0.587 NA 8 27 1.76689e-08 2.32305e-08 0.006214 1 0 RADIL 55698 broad.mit.edu 37 7 4841357 4841357 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:4841357G>A uc003snj.1 - 12 2942 c.2769C>T c.(2767-2769)GGC>GGT p.G923G RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Silent_p.G428G|RADIL_uc011jwc.1_Silent_p.G683G|RADIL_uc011jwd.1_RNA|RADIL_uc003snh.1_Silent_p.G219G NM_018059 NP_060529 Q96JH8 RADIL_HUMAN Rap GTPase interactor 923 Pro-rich. cell adhesion|multicellular organismal development|signal transduction protein binding lung(2)|central_nervous_system(2)|pancreas(2)|breast(1) 7 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CACAGGGGCCGCCGGACTCTG 0.711 NA 3 4 0 0 0.004672 0 0 PAPOLB 56903 broad.mit.edu 37 7 4899793 4899793 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:4899793C>A uc003snk.2 - 1 1833 c.1649G>T c.(1648-1650)AGC>ATC p.S550I RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron NM_020144 NP_064529 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 549 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding ovary(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) CTGAGAACTGCTAATCAATGG 0.453 NA 16 77 2.4624e-09 3.32569e-09 0.008871 1 0 USP42 84132 broad.mit.edu 37 7 6189538 6189538 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:6189538A>T uc011jwo.1 + 13 1834 c.1711A>T c.(1711-1713)ACG>TCG p.T571S USP42_uc010kth.1_Missense_Mutation_p.T504S|USP42_uc011jwp.1_Missense_Mutation_p.T571S|USP42_uc011jwq.1_Missense_Mutation_p.T378S|USP42_uc011jwr.1_Missense_Mutation_p.T416S NM_032172 NP_115548 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 571 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(2)|ovary(1)|pancreas(1)|breast(1) 5 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) GAACGCATCTACGATGTCAGT 0.478 NA 6 31 0 0 0.001168 0 0 DGKB 1607 broad.mit.edu 37 7 14378244 14378244 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:14378244C>A uc003ssz.2 - 22 2208 c.2021G>T c.(2020-2022)TGG>TTG p.W674L DGKB_uc011jxt.1_Missense_Mutation_p.W655L|DGKB_uc003sta.2_Missense_Mutation_p.W674L|DGKB_uc011jxu.1_Missense_Mutation_p.W673L NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 674 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) AGACTCTCCCCAAAGATTGGA 0.413 NA 14 38 1.52009e-12 2.25137e-12 0.003163 1 0 TMEM195 392636 broad.mit.edu 37 7 15599801 15599801 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:15599801C>T uc003stb.1 - 2 392 c.222G>A c.(220-222)ACG>ACA p.T74T NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 74 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding 0 CTGAGATTGACGTTAAAGCAT 0.453 NA 15 61 0 0 0.004007 0 0 HDAC9 9734 broad.mit.edu 37 7 18801852 18801852 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:18801852G>T uc003suh.2 + 14 2148 c.2107G>T c.(2107-2109)GGC>TGC p.G703C HDAC9_uc003sue.2_Missense_Mutation_p.G703C|HDAC9_uc011jyd.1_Missense_Mutation_p.G703C|HDAC9_uc003sui.2_Missense_Mutation_p.G706C|HDAC9_uc003suj.2_Missense_Mutation_p.G662C|HDAC9_uc003sua.1_Missense_Mutation_p.G681C NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 703 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) ACTGTTGTATGGCACCAACCC 0.502 NA 8 24 3.09899e-07 3.88222e-07 0.004482 1 0 ABCB5 340273 broad.mit.edu 37 7 20698288 20698288 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:20698288G>C uc003suw.3 + 5 907 c.361G>C c.(361-363)GCA>CCA p.A121P ABCB5_uc010kuh.2_Missense_Mutation_p.A566P|ABCB5_uc003suv.3_Missense_Mutation_p.A121P|ABCB5_uc011jyi.1_Missense_Mutation_p.A121P NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 121 ABC transporter 1.|Extracellular (Potential). regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 TGTTCAAGCTGCACTGGAGAA 0.408 NA 10 27 0 0 0.001855 0 0 SNX10 29887 broad.mit.edu 37 7 26400640 26400640 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:26400640G>T uc003sxx.2 + 3 285 c.70G>T c.(70-72)GAC>TAC p.D24Y SNX10_uc011jzg.1_Missense_Mutation_p.D47Y|SNX10_uc010kuu.2_Missense_Mutation_p.D24Y|SNX10_uc010kuv.2_Missense_Mutation_p.D20Y NM_013322 NP_037454 Q9Y5X0 SNX10_HUMAN sorting nexin 10 24 PX. cell communication|endosome organization|protein transport extrinsic to endosome membrane 1-phosphatidylinositol binding 0 TCAGAAGGAGGACTTCTGGCA 0.353 NA 23 57 2.41591e-17 3.89638e-17 0.004656 1 0 HOXA13 3209 broad.mit.edu 37 7 27237955 27237955 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:27237955C>A uc003szb.1 - 2 1058 c.1029G>T c.(1027-1029)ACG>ACT p.T343T uc003szc.1_5'Flank NM_000522 NP_000513 P31271 HXA13_HUMAN homeobox A13 343 Homeobox. skeletal system development nucleus sequence-specific DNA binding breast(1) 1 TGAATTTATTCGTGGCGTATT 0.498 NA T NUP98 AML OREG0003748 type=REGULATORY REGION|Gene=HOXA13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 42 108 2.52991e-16 4.0192e-16 0.00361 1 0 CREB5 9586 broad.mit.edu 37 7 28610146 28610146 + Missense_Mutation SNP G G T rs114450022 by1000genomes TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:28610146G>T uc003szq.2 + 5 845 c.455G>T c.(454-456)CGC>CTC p.R152L CREB5_uc003szo.2_Missense_Mutation_p.R119L|CREB5_uc003szr.2_Missense_Mutation_p.R145L NM_182898 NP_878901 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 152 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 TCCACCAACCGCCAGATCGGG 0.587 NA 11 52 7.03913e-09 9.3457e-09 0.001368 1 0 AVL9 23080 broad.mit.edu 37 7 32598191 32598191 + Silent SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:32598191A>T uc003tcv.1 + 9 776 c.630A>T c.(628-630)CCA>CCT p.P210P AVL9_uc011kai.1_Silent_p.P210P|AVL9_uc010kwj.1_Silent_p.P51P NM_015060 NP_055875 Q8NBF6 AVL9_HUMAN AVL9 homolog (S. cerevisiase) 210 integral to membrane 0 ATATTTCTCCAGTGAATAAAT 0.348 NA 9 32 0 0 0.008291 0 0 RP9 6100 broad.mit.edu 37 7 33136953 33136953 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:33136953C>A uc003tdm.2 - 4 353 c.335G>T c.(334-336)GGT>GTT p.G112V NM_203288 NP_976033 Q8TA86 RP9_HUMAN retinitis pigmentosa 9 112 PIM1-binding (By similarity).|CCHC-type. RNA splicing nucleus nucleic acid binding|protein binding|zinc ion binding 0 GBM - Glioblastoma multiforme(11;0.0403) CGTTCGGTGACCATAGCGTTT 0.373 NA 17 36 3.41278e-10 4.72955e-10 0.00499 1 0 POU6F2 11281 broad.mit.edu 37 7 39379522 39379522 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:39379522C>A uc003thb.1 + 5 835 c.793C>A c.(793-795)CCA>ACA p.P265T POU6F2_uc010kxo.2_Missense_Mutation_p.P257T NM_007252 NP_009183 P78424 PO6F2_HUMAN POU class 6 homeobox 2 isoform 1 265 Pro-rich.|Gln-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 ccaaccatctccaacccagca 0.224 NA 17 40 1.99824e-07 2.51812e-07 0.00499 1 0 INHBA 3624 broad.mit.edu 37 7 41729792 41729792 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:41729792T>A uc003thq.2 - 2 972 c.737A>T c.(736-738)CAG>CTG p.Q246L INHBA_uc003thr.2_Missense_Mutation_p.Q246L NM_002192 NP_002183 P08476 INHBA_HUMAN inhibin beta A precursor 246 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity lung(5)|ovary(1) 6 CTCCTGGCACTGCTCACAGGC 0.433 NA TSP Lung(11;0.080) 8 27 0 0 0.008291 0 0 GLI3 2737 broad.mit.edu 37 7 42005524 42005524 + Nonsense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:42005524G>C uc011kbh.1 - 15 3238 c.3147C>G c.(3145-3147)TAC>TAG p.Y1049* GLI3_uc011kbg.1_Nonsense_Mutation_p.Y990* NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1049 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 CGGGCCGCGTGTAATTCTGAA 0.667 NA Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 6 33 0 0 0.001984 0 0 HECW1 23072 broad.mit.edu 37 7 43477686 43477686 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:43477686C>A uc003tid.1 + 9 1491 c.886C>A c.(886-888)CGC>AGC p.R296S HECW1_uc011kbi.1_Missense_Mutation_p.R296S|HECW1_uc003tie.1_Missense_Mutation_p.R328S NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 296 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 CATCATCAAGCGCTTCTTGGG 0.493 NA 11 38 5.50884e-06 6.54807e-06 0.001368 1 0 HECW1 23072 broad.mit.edu 37 7 43484345 43484345 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:43484345G>T uc003tid.1 + 11 2179 c.1574G>T c.(1573-1575)CGG>CTG p.R525L HECW1_uc011kbi.1_Missense_Mutation_p.R525L NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 525 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 CTGCAGCTGCGGGCCTCGGTG 0.562 NA 4 8 0.00024832 0.000277424 0.009096 1 0 MRPS24 64951 broad.mit.edu 37 7 43906464 43906464 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:43906464C>A uc003tit.1 - 4 389 c.338G>T c.(337-339)CGG>CTG p.R113L NM_032014 NP_114403 Q96EL2 RT24_HUMAN mitochondrial ribosomal protein S24 precursor 113 translation mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome 0 CTGGTTACCCCGGCGCTTTAA 0.547 NA 7 59 0.00307968 0.00328514 0.00308 1 0 URGCP 55665 broad.mit.edu 37 7 43917515 43917515 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:43917515C>G uc003tiw.2 - 6 1604 c.1547G>C c.(1546-1548)TGG>TCG p.W516S URGCP_uc003tiu.2_Missense_Mutation_p.W473S|URGCP_uc003tiv.2_Missense_Mutation_p.W441S|URGCP_uc003tix.2_Missense_Mutation_p.W507S|URGCP_uc003tiy.2_Missense_Mutation_p.W473S|URGCP_uc003tiz.2_Missense_Mutation_p.W473S|URGCP_uc011kbj.1_Missense_Mutation_p.W473S NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 516 W -> R (in Ref. 3; CAE45880). cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 GTCCACGGCCCACTGGAGCTG 0.627 NA 15 38 0 0 0.00499 0 0 MYO1G 64005 broad.mit.edu 37 7 45007525 45007525 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:45007525C>G uc003tmh.2 - 13 1751 c.1607G>C c.(1606-1608)AGA>ACA p.R536T MYO1G_uc003tmf.2_5'UTR|MYO1G_uc003tmg.2_Missense_Mutation_p.R298T|MYO1G_uc010kym.2_Missense_Mutation_p.R421T|MYO1G_uc003tmi.1_Missense_Mutation_p.R448T NM_033054 NP_149043 B0I1T2 MYO1G_HUMAN myosin IG 536 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|ovary(1)|pancreas(1) 4 GAGGAAATCTCTGTTCTTGTC 0.622 NA 10 24 0 0 0.001368 0 0 SEPT14 346288 broad.mit.edu 37 7 55874857 55874857 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:55874857G>T uc003tqz.2 - 8 1029 c.912C>A c.(910-912)CAC>CAA p.H304Q NM_207366 NP_997249 Q6ZU15 SEP14_HUMAN septin 14 304 cell cycle|cell division septin complex GTP binding|protein binding 0 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) AACATTCATAGTGCTGAGTGT 0.378 NA 10 38 1.08611e-07 1.38156e-07 0.000978 1 0 WBSCR17 64409 broad.mit.edu 37 7 70880961 70880961 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:70880961C>A uc003tvy.2 + 4 676 c.676C>A c.(676-678)CTG>ATG p.L226M WBSCR17_uc003tvz.2_Translation_Start_Site NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 226 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GAGGGAAGGCCTGATCCGCGC 0.567 NA 22 44 2.44723e-14 3.72852e-14 0.004656 1 0 GTF2IP1 2970 broad.mit.edu 37 7 72617495 72617495 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:72617495G>T uc003txo.3 + 21 2364 c.1483G>T c.(1483-1485)GTG>TTG p.V495L FKBP6_uc003twz.2_Intron|GTF2IP1_uc011keq.1_Missense_Mutation_p.V495L NR_003580 SubName: Full=cDNA FLJ61347, highly similar to General transcription factor II-I; 0 AAAAGGCCCCGTGATACAAGG 0.512 NA 29 85 3.03874e-20 5.04309e-20 0.003271 1 0 TBL2 26608 broad.mit.edu 37 7 72988399 72988399 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:72988399C>A uc003tyh.2 - 3 449 c.315G>T c.(313-315)CTG>CTT p.L105L TBL2_uc011kex.1_Silent_p.L69L|TBL2_uc010lbg.2_Silent_p.L10L|TBL2_uc003tyi.2_5'UTR|TBL2_uc011key.1_Intron|TBL2_uc010lbh.2_Silent_p.L10L NM_012453 NP_036585 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 105 WD 1. 0 Lung NSC(55;0.0659)|all_lung(88;0.152) CACAGGTAGCCAGGTATTTGC 0.572 NA 10 44 4.3838e-07 5.45499e-07 0.001855 1 0 LAT2 7462 broad.mit.edu 37 7 73634097 73634097 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:73634097C>A uc003uag.2 + 5 708 c.158C>A c.(157-159)ACG>AAG p.T53K RFC2_uc011kfa.1_Intron|LAT2_uc003uah.2_Missense_Mutation_p.T53K|LAT2_uc003uai.2_Missense_Mutation_p.T53K|LAT2_uc010lbo.2_RNA NM_032464 NP_115853 Q9GZY6 NTAL_HUMAN linker for activation of T cells family member 53 Cytoplasmic (Potential). B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding 0 CAGAGCTTTACGGGGTCCCGG 0.607 NA 51 152 5.5144e-22 9.37134e-22 0.00361 1 0 POR 5447 broad.mit.edu 37 7 75608896 75608896 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:75608896T>A uc003udy.2 + 4 447 c.365T>A c.(364-366)CTG>CAG p.L122Q POR_uc011kgb.1_RNA|POR_uc011kgc.1_5'Flank|POR_uc011kgd.1_5'Flank|POR_uc011kge.1_5'Flank NM_000941 NP_000932 P16435 NCPR_HUMAN cytochrome P450 reductase 119 Flavodoxin-like. cellular organofluorine metabolic process|positive regulation of monooxygenase activity endoplasmic reticulum membrane iron ion binding|NADPH-hemoprotein reductase activity central_nervous_system(1) 1 Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665) GAGTATGACCTGGTAAGCTGC 0.667 NA 19 50 0 0 0.00278 0 0 MAGI2 9863 broad.mit.edu 37 7 77762304 77762304 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:77762304C>A uc003ugx.2 - 18 3359 c.3105G>T c.(3103-3105)CAG>CAT p.Q1035H MAGI2_uc003ugy.2_Missense_Mutation_p.Q1021H|MAGI2_uc010ldx.1_Missense_Mutation_p.Q628H NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 1035 Pro-rich. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) GGGGACTCTGCTGTGCCAGGG 0.627 NA 74 160 2.34191e-24 4.04462e-24 0.00361 1 0 ABCB1 5243 broad.mit.edu 37 7 87160718 87160718 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:87160718C>T uc003uiz.1 - 22 2995 c.2577G>A c.(2575-2577)CTG>CTA p.L859L ABCB1_uc011khc.1_Silent_p.L795L NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 859 ABC transmembrane type-1 2.|Helical; (Potential). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CTAAGAGTAACAGTGTTAGTT 0.383 NA 23 73 0 0 0.002299 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87407136 87407136 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:87407136G>C uc003ujb.2 + 9 1283 c.872G>C c.(871-873)CGA>CCA p.R291P RUNDC3B_uc011khd.1_Missense_Mutation_p.R274P|RUNDC3B_uc011khe.1_Missense_Mutation_p.R274P|RUNDC3B_uc003ujc.2_Missense_Mutation_p.R274P|RUNDC3B_uc003ujd.2_Missense_Mutation_p.R196P NM_138290 NP_612147 Q96NL0 RUN3B_HUMAN RUN domain containing 3B isoform a 291 skin(1) 1 Esophageal squamous(14;0.00164) GAACTCTTACGACTTCGAGAG 0.368 NA 10 17 0 0 0.00245 0 0 ZNF804B 219578 broad.mit.edu 37 7 88847495 88847495 + Silent SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:88847495A>T uc011khi.1 + 2 673 c.135A>T c.(133-135)GCA>GCT p.A45A NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 45 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AGTCCACAGCAAAGGCCCTGG 0.348 NA HNSCC(36;0.09) 13 31 0 0 0.00245 0 0 ZNF804B 219578 broad.mit.edu 37 7 88963101 88963101 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:88963101G>C uc011khi.1 + 4 1343 c.805G>C c.(805-807)GCA>CCA p.A269P NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 269 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CTGCAGGTTTGCAAATAAAGA 0.358 NA HNSCC(36;0.09) 16 17 0 0 0.00499 0 0 CCDC132 55610 broad.mit.edu 37 7 92887685 92887685 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:92887685G>C uc003umo.2 + 8 685 c.557G>C c.(556-558)CGG>CCG p.R186P CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.R156P|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Intron|CCDC132_uc003umn.2_Missense_Mutation_p.R186P NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 186 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) ACAGATGTACGGTTAAGTGAA 0.299 NA 22 66 0 0 0.005443 0 0 SLC25A13 10165 broad.mit.edu 37 7 95775939 95775939 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:95775939C>G uc003uof.3 - 14 1572 c.1381G>C c.(1381-1383)GAA>CAA p.E461Q SLC25A13_uc003uog.3_Missense_Mutation_p.E462Q|SLC25A13_uc011kik.1_Missense_Mutation_p.E353Q NM_014251 NP_055066 Q9UJS0 CMC2_HUMAN solute carrier family 25, member 13 isoform 2 461 Solcar 2. ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity central_nervous_system(3)|skin(1) 4 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) GTGGTGATTTCTCCTGCCACT 0.413 NA 64 129 0 0 0.00361 0 0 TAC1 6863 broad.mit.edu 37 7 97365653 97365653 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:97365653C>G uc003uop.3 + 6 578 c.332C>G c.(331-333)GCT>GGT p.A111G TAC1_uc003uoq.3_Intron|TAC1_uc003uor.3_Missense_Mutation_p.A96G|TAC1_uc003uos.3_Intron NM_003182 NP_003173 P20366 TKN1_HUMAN tachykinin 1 isoform beta precursor 111 detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway extracellular space 0 all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384) Bacitracin(DB00626) GGCAAAAGAGCTTTAAATTCT 0.269 NA 21 49 0 0 0.002299 0 0 OCM2 4951 broad.mit.edu 37 7 97617759 97617759 + Nonsense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:97617759G>A uc003upc.2 - 2 163 c.163C>T c.(163-165)CAG>TAG p.Q55* NM_006188 NP_006179 P0CE71 OCM2_HUMAN oncomodulin-like 55 EF-hand 1.|1 (Potential). calcium ion binding 0 TACCCGCTCTGGTCGTTGTCT 0.542 NA 27 49 0 0 0.009535 0 0 OCM2 4951 broad.mit.edu 37 7 97619394 97619394 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:97619394C>A uc003upc.2 - 1 23 c.23G>T c.(22-24)AGT>ATT p.S8I NM_006188 NP_006179 P0CE71 OCM2_HUMAN oncomodulin-like 8 calcium ion binding 0 GTCATCAGCACTGAGCACGTC 0.552 NA 18 43 1.85244e-09 2.5179e-09 0.00333 1 0 TRRAP 8295 broad.mit.edu 37 7 98564667 98564667 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:98564667C>T uc003upp.2 + 49 7368 c.7159C>T c.(7159-7161)CCT>TCT p.P2387S TRRAP_uc011kis.1_Missense_Mutation_p.P2369S|TRRAP_uc003upr.2_Missense_Mutation_p.P2086S NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 2387 Interaction with TP53. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CATACAGACACCTACACTCCG 0.358 NA 11 39 0 0 0.001855 0 0 TRRAP 8295 broad.mit.edu 37 7 98591355 98591355 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:98591355G>A uc003upp.2 + 65 10209 c.10000G>A c.(10000-10002)GAA>AAA p.E3334K TRRAP_uc011kis.1_Missense_Mutation_p.E3305K|TRRAP_uc003upr.2_Missense_Mutation_p.E3040K NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 3334 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AAATTGGCATGAAGAGGTATT 0.522 NA 11 26 0 0 0.001855 0 0 SMURF1 57154 broad.mit.edu 37 7 98633176 98633176 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:98633176G>C uc003upu.1 - 17 2371 c.2051C>G c.(2050-2052)TCC>TGC p.S684C SMURF1_uc003upv.1_Missense_Mutation_p.S658C|SMURF1_uc003upt.2_Missense_Mutation_p.S658C|TRRAP_uc003ups.2_RNA NM_020429 NP_065162 Q9HCE7 SMUF1_HUMAN Smad ubiquitination regulatory factor 1 isoform 684 HECT. BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|lung(1) 4 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) GACTCGCGTGGACCCAGTCAC 0.597 NA 22 36 0 0 0.004656 0 0 CPSF4 10898 broad.mit.edu 37 7 99047933 99047933 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:99047933C>T uc003uqj.2 + 4 485 c.342C>T c.(340-342)CAC>CAT p.H114H PTCD1_uc011kiw.1_Intron|CPSF4_uc003uqi.2_Silent_p.H114H|CPSF4_uc003uqk.2_Silent_p.H114H|CPSF4_uc011kix.1_Silent_p.H61H NM_006693 NP_006684 O95639 CPSF4_HUMAN cleavage and polyadenylation specific factor 4, 114 C3H1-type 3. modification by virus of host mRNA processing|mRNA processing|viral infectious cycle mRNA cleavage and polyadenylation specificity factor complex RNA binding|zinc ion binding central_nervous_system(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) CCTTCCTGCACATCGACCCCG 0.617 NA 15 34 0 0 0.007413 0 0 MCM7 4176 broad.mit.edu 37 7 99695832 99695832 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:99695832C>T uc003usw.1 - 7 1312 c.802G>A c.(802-804)GGA>AGA p.G268R MCM7_uc003usv.1_Missense_Mutation_p.G92R|MCM7_uc003usx.1_Missense_Mutation_p.G92R NM_005916 NP_005907 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 268 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) ACGTGGTCTCCAGGCTGGGCA 0.527 NA 9 30 0 0 0.006214 0 0 C7orf52 375607 broad.mit.edu 37 7 100817860 100817860 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:100817860G>T uc003uxy.1 - 2 468 c.229C>A c.(229-231)CTG>ATG p.L77M C7orf52_uc003uxz.1_Missense_Mutation_p.L77M|C7orf52_uc003uya.1_Missense_Mutation_p.L77M|C7orf52_uc003uyb.1_Missense_Mutation_p.L77M NM_198571 NP_940973 Q8N8M0 CG052_HUMAN hypothetical protein LOC375607 77 N-acetyltransferase. N-acetyltransferase activity ovary(1) 1 Lung NSC(181;0.168)|all_lung(186;0.215) AGGTAGTCCAGGCCGCCGTAG 0.687 NA 16 41 5.3912e-06 6.42881e-06 0.006122 1 0 RELN 5649 broad.mit.edu 37 7 103131117 103131117 + Silent SNP A A G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:103131117A>G uc003vca.2 - 59 9763 c.9603T>C c.(9601-9603)TCT>TCC p.S3201S RELN_uc010liz.2_Silent_p.S3201S NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 3201 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CAACCTACCTAGAGGAGACAT 0.468 NSCLC(146;835 1944 15585 22231 52158) NA 35 71 0 0 0.00874 0 0 RELN 5649 broad.mit.edu 37 7 103243856 103243856 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:103243856C>G uc003vca.2 - 24 3388 c.3228G>C c.(3226-3228)CAG>CAC p.Q1076H RELN_uc010liz.2_Missense_Mutation_p.Q1076H NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1076 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CCCAGCCATTCTGGTTCTCAA 0.493 NSCLC(146;835 1944 15585 22231 52158) NA 36 82 0 0 0.004878 0 0 GPR22 2845 broad.mit.edu 37 7 107114493 107114493 + Translation_Start_Site SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:107114493C>A uc003vef.2 + 3 1334 c.-12C>A c.(-14--10)AACTG>AAATG COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron NM_005295 NP_005286 Q99680 GPR22_HUMAN G protein-coupled receptor 22 integral to plasma membrane G-protein coupled receptor activity ovary(2) 2 AAAAAACCAACTGCTCCAAAA 0.318 NA 8 19 0.00307968 0.00328514 0.00308 1 0 GPR22 2845 broad.mit.edu 37 7 107115596 107115596 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:107115596C>A uc003vef.2 + 3 2437 c.1091C>A c.(1090-1092)CCT>CAT p.P364H COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron NM_005295 NP_005286 Q99680 GPR22_HUMAN G protein-coupled receptor 22 364 Helical; Name=7; (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(2) 2 ATATTTCACCCTCTATTATAT 0.318 NA 13 39 0.000308642 0.000341227 0.003163 1 0 EIF3IP1 442720 broad.mit.edu 37 7 109599700 109599700 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:109599700T>A uc003vfp.1 - 1 571 c.398A>T c.(397-399)AAT>ATT p.N133I NR_003024 Homo sapiens eukaryotic translation initiation factor 3, subunit I pseudogene 1 (EIF3IP1), non-coding RNA. 0 CTCCTTAATATTCACCAACAC 0.488 NA 7 41 0 0 0.004482 0 0 TMEM168 64418 broad.mit.edu 37 7 112423920 112423920 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:112423920T>A uc003vgn.2 - 2 1353 c.961A>T c.(961-963)ACC>TCC p.T321S TMEM168_uc010lju.2_Missense_Mutation_p.T321S|TMEM168_uc011kmr.1_Intron NM_022484 NP_071929 Q9H0V1 TM168_HUMAN transmembrane protein 168 321 integral to membrane|transport vesicle ovary(1)|central_nervous_system(1) 2 TTTAATTTGGTATGGAATCCC 0.348 NA 33 81 0 0 0.003755 0 0 GPR85 54329 broad.mit.edu 37 7 112723809 112723809 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:112723809G>T uc010ljv.2 - 2 1485 c.968C>A c.(967-969)GCT>GAT p.A323D GPR85_uc003vgp.1_Missense_Mutation_p.A323D|GPR85_uc003vgq.2_Missense_Mutation_p.A323D|GPR85_uc010ljw.1_Missense_Mutation_p.A323D NM_001146266 NP_001139738 P60893 GPR85_HUMAN G protein-coupled receptor 85 323 Helical; Name=7; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|central_nervous_system(1) 2 CCAGACAGCAGCTGTTAGAAA 0.483 NA 19 28 1.00905e-13 1.51408e-13 0.008871 1 0 CAPZA2 830 broad.mit.edu 37 7 116552135 116552136 + Missense_Mutation DNP GA GA TT TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:116552135_116552136GA>TT uc003vil.2 + 8 701_702 c.598_599GA>TT c.(598-600)GAA>TTA p.E200L CAPZA2_uc011knk.1_RNA NM_006136 NP_006127 P47755 CAZA2_HUMAN capping protein (actin filament) muscle Z-line, 200 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly cytosol|extracellular region|F-actin capping protein complex actin binding 0 all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326) TCATTATTATGAAGATGGTAAT 0.218 NA 25 58 0 0 0.004672 0 0 CFTR 1080 broad.mit.edu 37 7 117170968 117170968 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:117170968G>T uc003vjd.2 + 4 421 c.289G>T c.(289-291)GTA>TTA p.V97L CFTR_uc011knq.1_5'UTR NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 97 Helical; Name=1; (Potential).|ABC transmembrane type-1 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding central_nervous_system(2)|skin(2)|ovary(1) 5 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) CACCAAAGCAGTACAGCCTCT 0.388 NA Cystic_Fibrosis 10 22 0.000673444 0.000735791 0.008291 1 0 C7orf58 79974 broad.mit.edu 37 7 120655843 120655843 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:120655843C>A uc003vjq.3 + 3 821 c.374C>A c.(373-375)ACG>AAG p.T125K C7orf58_uc003vjr.1_Missense_Mutation_p.T125K|C7orf58_uc003vjs.3_Missense_Mutation_p.T125K NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 125 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) CATGGCTATACGGTTGTCATC 0.498 NA 10 24 0.000978159 0.00106403 0.000978 1 0 PTPRZ1 5803 broad.mit.edu 37 7 121652129 121652129 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:121652129C>A uc003vjy.2 + 12 3424 c.3029C>A c.(3028-3030)ACA>AAA p.T1010K PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 1010 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 TTACCTGACACAGATGGGCTG 0.428 NA 14 67 9.31168e-06 1.10067e-05 0.001855 1 0 IQUB 154865 broad.mit.edu 37 7 123092812 123092812 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:123092812C>A uc003vkn.2 - 13 2938 c.2361G>T c.(2359-2361)CAG>CAT p.Q787H IQUB_uc011kny.1_Missense_Mutation_p.Q120H|IQUB_uc003vko.2_Missense_Mutation_p.Q787H|IQUB_uc010lkt.2_RNA NM_178827 NP_849149 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 787 ovary(3)|large_intestine(1) 4 GAGGAGGCCTCTGGGATTCTA 0.408 NA 14 24 3.27435e-08 4.26728e-08 0.00245 1 0 CPA4 51200 broad.mit.edu 37 7 129938612 129938612 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:129938612G>A uc003vpr.2 + 2 142 c.95G>A c.(94-96)AGA>AAA p.R32K CPA4_uc011kpd.1_Missense_Mutation_p.R32K|CPA4_uc011kpe.1_Intron NM_016352 NP_057436 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 preproprotein 32 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) ATTAATGTCAGAAATGGAGAC 0.408 NA 11 30 0 0 0.00245 0 0 LRGUK 136332 broad.mit.edu 37 7 133868525 133868525 + Silent SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:133868525A>T uc003vrm.1 + 11 1270 c.1254A>T c.(1252-1254)ATA>ATT p.I418I NM_144648 NP_653249 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain 418 Guanylate kinase-like. ATP binding|kinase activity lung(2)|skin(2)|kidney(1) 5 CCATGCTGATACTAGCTGGTC 0.488 NA 45 113 0 0 0.00361 0 0 CHRM2 1129 broad.mit.edu 37 7 136700111 136700111 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:136700111G>T uc003vtf.1 + 4 1122 c.499G>T c.(499-501)GGG>TGG p.G167W CHRM2_uc003vtg.1_Missense_Mutation_p.G167W|CHRM2_uc003vtj.1_Missense_Mutation_p.G167W|CHRM2_uc003vtk.1_Missense_Mutation_p.G167W|CHRM2_uc003vtl.1_Missense_Mutation_p.G167W|CHRM2_uc003vtm.1_Missense_Mutation_p.G167W|CHRM2_uc003vti.1_Missense_Mutation_p.G167W|CHRM2_uc003vto.1_Missense_Mutation_p.G167W|CHRM2_uc003vtn.1_Missense_Mutation_p.G167W|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 167 Extracellular (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) GTTCATTGTAGGGGTGAGAAC 0.498 NA 43 97 3.68337e-26 6.45893e-26 0.00361 1 0 CHRM2 1129 broad.mit.edu 37 7 136700860 136700860 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:136700860C>A uc003vtf.1 + 4 1871 c.1248C>A c.(1246-1248)TGC>TGA p.C416* CHRM2_uc003vtg.1_Nonsense_Mutation_p.C416*|CHRM2_uc003vtj.1_Nonsense_Mutation_p.C416*|CHRM2_uc003vtk.1_Nonsense_Mutation_p.C416*|CHRM2_uc003vtl.1_Nonsense_Mutation_p.C416*|CHRM2_uc003vtm.1_Nonsense_Mutation_p.C416*|CHRM2_uc003vti.1_Nonsense_Mutation_p.C416*|CHRM2_uc003vto.1_Nonsense_Mutation_p.C416*|CHRM2_uc003vtn.1_Nonsense_Mutation_p.C416*|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 416 Extracellular (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) GTGCACCTTGCATCCCCAACA 0.458 NA 55 109 2.36135e-34 4.2665e-34 0.00361 1 0 DGKI 9162 broad.mit.edu 37 7 137150701 137150701 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:137150701C>T uc003vtt.2 - 27 2590 c.2589G>A c.(2587-2589)GCG>GCA p.A863A DGKI_uc003vtu.2_Silent_p.A573A NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 863 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 GAGGTGTCCCCGCCGGCTGTG 0.532 NA 13 45 0 0 0.00245 0 0 TRIM24 8805 broad.mit.edu 37 7 138264263 138264263 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:138264263G>C uc003vuc.2 + 15 2786 c.2571G>C c.(2569-2571)TTG>TTC p.L857F TRIM24_uc003vub.2_Missense_Mutation_p.L823F NM_015905 NP_056989 O15164 TIF1A_HUMAN transcriptional intermediary factor 1 alpha 857 PHD-type. cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1) 8 TGCCCACATTGACAAATTTTC 0.388 Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014) NA 17 37 0 0 0.001882 0 0 SVOPL 136306 broad.mit.edu 37 7 138305866 138305866 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:138305866C>A uc011kqh.1 - 13 1278 c.1278G>T c.(1276-1278)ACG>ACT p.T426T SVOPL_uc003vue.2_Silent_p.T274T NM_001139456 NP_001132928 Q8N434 SVOPL_HUMAN SVOP-like isoform 1 426 integral to membrane transmembrane transporter activity 0 AAGCGCGCATCGTGGTGGGGT 0.602 NA 8 40 2.80697e-09 3.77735e-09 0.000978 1 0 ZC3HAV1L 92092 broad.mit.edu 37 7 138713461 138713461 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:138713461C>T uc003vum.1 - 3 759 c.747G>A c.(745-747)ATG>ATA p.M249I NM_080660 NP_542391 Q96H79 ZCCHL_HUMAN zinc finger CCCH-type, antiviral 1-like 249 0 TATTTTCAAGCATCTTGTGCA 0.398 NA 17 86 0 0 0.001882 0 0 TBXAS1 6916 broad.mit.edu 37 7 139655362 139655362 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:139655362G>A uc011kqv.1 + 8 949 c.785G>A c.(784-786)CGT>CAT p.R262H TBXAS1_uc003vvh.2_Missense_Mutation_p.R216H|TBXAS1_uc010lne.2_Missense_Mutation_p.R148H|TBXAS1_uc011kqu.1_Missense_Mutation_p.R167H|TBXAS1_uc003vvi.2_Missense_Mutation_p.R216H|TBXAS1_uc003vvj.2_Missense_Mutation_p.R216H|TBXAS1_uc011kqw.1_Missense_Mutation_p.R196H NM_001130966 NP_001124438 P24557 THAS_HUMAN thromboxane A synthase 1, platelet isoform 215 Cytoplasmic (Potential). hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity ovary(2)|breast(1) 3 Melanoma(164;0.0142) CACTGCAAGCGTTTCTTCGAA 0.577 NA 12 49 0 0 0.003163 0 0 DENND2A 27147 broad.mit.edu 37 7 140221738 140221738 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:140221738C>T uc010lnj.2 - 16 2973 c.2828G>A c.(2827-2829)CGC>CAC p.R943H DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.R943H|DENND2A_uc003vvw.2_Missense_Mutation_p.R943H NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 943 dDENN. ovary(3)|breast(1) 4 Melanoma(164;0.00956) CAGGAAGTGGCGGAGGCTCTT 0.602 NA 6 33 0 0 0.001984 0 0 DENND2A 27147 broad.mit.edu 37 7 140285455 140285455 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:140285455C>A uc010lnj.2 - 3 1324 c.1179G>T c.(1177-1179)CTG>CTT p.L393L DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Silent_p.L393L|DENND2A_uc003vvw.2_Silent_p.L393L|DENND2A_uc003vvx.2_Silent_p.L393L NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 393 ovary(3)|breast(1) 4 Melanoma(164;0.00956) ACTTCTTTCCCAGGCAGCGAC 0.522 NA 35 103 9.73076e-26 1.69632e-25 0.006999 1 0 OR9A4 130075 broad.mit.edu 37 7 141619410 141619410 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:141619410C>A uc003vwu.1 + 1 735 c.735C>A c.(733-735)TTC>TTA p.F245L NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, 245 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.0171) CCTCCCACTTCACCTGTGTTG 0.502 NA 14 41 0.000308642 0.000341227 0.003163 1 0 MGAM 8972 broad.mit.edu 37 7 141719069 141719069 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:141719069C>T uc003vwy.2 + 4 452 c.398C>T c.(397-399)TCC>TTC p.S133F NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 133 P-type 1.|Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGCTACTATTCCAAGAATCAT 0.512 NA 22 44 0 0 0.00278 0 0 EPHB6 2051 broad.mit.edu 37 7 142561857 142561857 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:142561857C>A uc011kst.1 + 7 1086 c.299C>A c.(298-300)GCC>GAC p.A100D EPHB6_uc011ksu.1_Missense_Mutation_p.A100D|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 100 Extracellular (Potential). extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) CGGCGCGGGGCCCAGAGGGCG 0.647 NA 58 163 1.05635e-38 1.92972e-38 0.00361 1 0 TRPV6 55503 broad.mit.edu 37 7 142574532 142574532 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:142574532G>A uc003wbx.1 - 5 762 c.546C>T c.(544-546)CTC>CTT p.L182L TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_Silent_p.L53L NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 182 ANK 4.|Cytoplasmic (Potential). regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) CATGCTCAATGAGCAGCCGCA 0.597 NA 44 56 0 0 0.00361 0 0 OR9A2 135924 broad.mit.edu 37 7 142724168 142724168 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:142724168C>A uc003wcc.1 - 1 52 c.52G>T c.(52-54)GGG>TGG p.G18W NM_001001658 NP_001001658 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, 18 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.059) CCTTGGGACCCAGGGAAGCCT 0.413 NA 18 29 8.04996e-18 1.30823e-17 0.001882 1 0 FAM115C 285966 broad.mit.edu 37 7 143417194 143417194 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:143417194C>A uc003wdf.2 + 3 1125 c.1042C>A c.(1042-1044)CAG>AAG p.Q348K FAM115C_uc003wdg.2_Missense_Mutation_p.Q67K|FAM115C_uc011ktk.1_Missense_Mutation_p.Q348K|FAM115C_uc003wdh.2_Missense_Mutation_p.Q348K|FAM115C_uc011ktm.1_Missense_Mutation_p.Q348K|uc011ktn.1_Intron|uc011kto.1_Intron|uc011ktp.1_Intron|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron|FAM115C_uc011ktt.1_Missense_Mutation_p.Q184K|FAM115C_uc003wdi.1_Missense_Mutation_p.Q67K NM_001130025 NP_001123497 A6NFQ2 F115C_HUMAN hypothetical protein LOC285966 isoform A 348 0 TAAGCAGCTGCAGGAGTTTGT 0.632 NA 20 82 1.55795e-14 2.38095e-14 0.001882 1 0 OR6B1 135946 broad.mit.edu 37 7 143701462 143701462 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:143701462G>T uc003wdt.1 + 1 373 c.373G>T c.(373-375)GCC>TCC p.A125S NM_001005281 NP_001005281 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, 125 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.0783) CCGGTATGTGGCCATCTGTCG 0.537 NA 20 72 1.01871e-10 1.42505e-10 0.008871 1 0 OR2A2 442361 broad.mit.edu 37 7 143807247 143807247 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:143807247C>T uc011ktz.1 + 1 572 c.572C>T c.(571-573)ACC>ATC p.T191I NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, 191 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Melanoma(164;0.0783) TGTGCTGACACCTGGGTTAAC 0.512 NA 54 115 0 0 0.00361 0 0 NOBOX 135935 broad.mit.edu 37 7 144098216 144098216 + Missense_Mutation SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:144098216T>C uc011kue.1 - 4 767 c.767A>G c.(766-768)CAA>CGA p.Q256R NM_001080413 NP_001073882 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 256 cell differentiation|oogenesis nucleus sequence-specific DNA binding ovary(1) 1 Melanoma(164;0.14) GTCTCTGTTTTGGTTGCTCTG 0.577 NA 10 17 0 0 0.006214 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147259301 147259301 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:147259301G>C uc003weu.1 + 12 2365 c.1849G>C c.(1849-1851)GAT>CAT p.D617H NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 617 Extracellular (Potential).|Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GATAGATCCTGATGGCAGCGG 0.403 NA HNSCC(39;0.1) 17 47 0 0 0.008871 0 0 ZNF786 136051 broad.mit.edu 37 7 148768605 148768605 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:148768605C>A uc003wfh.2 - 4 1396 c.1259G>T c.(1258-1260)GGT>GTT p.G420V ZNF786_uc011kuk.1_Missense_Mutation_p.G383V|ZNF786_uc003wfi.2_Missense_Mutation_p.G334V NM_152411 NP_689624 Q8N393 ZN786_HUMAN zinc finger protein 786 420 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|skin(1) 4 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TCTCTCCCCACCGTGCGCGTG 0.622 NA 11 24 9.31168e-06 1.10067e-05 0.001855 1 0 KRBA1 84626 broad.mit.edu 37 7 149427646 149427646 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:149427646G>T uc003wfz.2 + 16 2533 c.2134G>T c.(2134-2136)GGC>TGC p.G712C KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Missense_Mutation_p.G319C NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 712 Pro-rich. ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GTACTGCAGCGGCCTCGGTGC 0.662 NA 7 12 1.12685e-05 1.32356e-05 0.004482 1 0 SSPO 23145 broad.mit.edu 37 7 149477097 149477097 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:149477097G>T uc010lpk.2 + 11 1274 c.1274G>T c.(1273-1275)GGG>GTG p.G425V SSPO_uc010lpl.1_Intron NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 425 cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TACTGCGCAGGGGCCATGGCA 0.637 NA 3 9 0.004672 0.00493414 0.004672 1 0 GIMAP1 170575 broad.mit.edu 37 7 150417431 150417431 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:150417431C>A uc003whq.2 + 3 426 c.339C>A c.(337-339)CAC>CAA p.H113Q GIMAP1_uc003whp.2_Missense_Mutation_p.H121Q NM_130759 NP_570115 Q8WWP7 GIMA1_HUMAN GTPase, IMAP family member 1 113 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane GTP binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCGGACCCCACGCGCTGCTCC 0.622 NA 12 32 3.07112e-06 3.69777e-06 0.000978 1 0 NOS3 4846 broad.mit.edu 37 7 150707685 150707685 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:150707685G>T uc003wif.2 + 22 2982 c.2686G>T c.(2686-2688)GAT>TAT p.D896Y NOS3_uc011kuy.1_Missense_Mutation_p.D690Y NM_000603 NP_000594 P29474 NOS3_HUMAN nitric oxide synthase 3 isoform 1 896 FAD-binding FR-type. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding central_nervous_system(5)|large_intestine(2)|skin(1) 8 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) GCCCCGCCAGGATCCCCGACG 0.647 NA 6 11 0.00198382 0.00213454 0.001984 1 0 MLL3 58508 broad.mit.edu 37 7 151860040 151860040 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:151860040C>A uc003wla.2 - 43 10841 c.10622G>T c.(10621-10623)GGG>GTG p.G3541V MLL3_uc003wkz.2_Missense_Mutation_p.G2602V|MLL3_uc003wky.2_Missense_Mutation_p.G1050V NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 3541 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GAAGCTGGTCCCAGAAAGATT 0.498 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 19 37 1.96292e-10 2.73046e-10 0.010504 1 0 XRCC2 7516 broad.mit.edu 37 7 152345743 152345743 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:152345743C>G uc003wld.2 - 3 913 c.827G>C c.(826-828)GGG>GCG p.G276A NM_005431 NP_005422 O43543 XRCC2_HUMAN X-ray repair cross complementing protein 2 276 meiosis nucleus ATP binding|DNA binding|DNA-dependent ATPase activity breast(1)|liver(1) 2 all_hematologic(28;0.0592)|Prostate(32;0.081) OV - Ovarian serous cystadenocarcinoma(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (81;0.0429) AAATTCAACCCCACTTTCTCC 0.239 NA Homologous_recombination 5 23 0 0 0.000602 0 0 HTR5A 3361 broad.mit.edu 37 7 154863225 154863225 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:154863225G>T uc003wlu.1 + 1 680 c.616G>T c.(616-618)GTA>TTA p.V206L uc011kvt.1_5'UTR|uc003wlt.2_5'UTR NM_024012 NP_076917 P47898 5HT5A_HUMAN 5-hydroxytryptamine receptor 5A 206 Helical; Name=5; (By similarity). integral to plasma membrane serotonin receptor activity ovary(2)|large_intestine(1) 3 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) GTTCTCCACCGTAGGCGCCTT 0.607 NA 11 30 9.04627e-18 1.46694e-17 0.001855 1 0 ESYT2 57488 broad.mit.edu 37 7 158534284 158534284 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:158534284T>A uc003wob.1 - 17 2245 c.2179A>T c.(2179-2181)AGC>TGC p.S727C ESYT2_uc003woc.1_Missense_Mutation_p.S551C|ESYT2_uc003wny.1_RNA|ESYT2_uc003wnz.1_Missense_Mutation_p.S166C|ESYT2_uc003woa.1_Missense_Mutation_p.S304C NM_020728 NP_065779 A0FGR8 ESYT2_HUMAN family with sequence similarity 62 (C2 domain 755 integral to membrane|plasma membrane central_nervous_system(2)|kidney(1) 3 GAGGCGATGCTGGGGGTCGGC 0.647 NA 20 33 0 0 0.00278 0 0 DLGAP2 9228 broad.mit.edu 37 8 1496869 1496869 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:1496869C>A uc003wpl.2 + 2 107 c.10C>A c.(10-12)CTT>ATT p.L4I DLGAP2_uc003wpm.2_Missense_Mutation_p.L4I NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 83 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CATGAAGGGCCTTTCCGGAAG 0.677 NA 5 12 5.18039e-06 6.18734e-06 0.00308 1 0 DLGAP2 9228 broad.mit.edu 37 8 1497625 1497625 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:1497625G>A uc003wpl.2 + 2 863 c.766G>A c.(766-768)GGG>AGG p.G256R DLGAP2_uc003wpm.2_Missense_Mutation_p.G256R NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 335 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GAGCCCCTTCGGGGACCTGTC 0.672 NA 13 62 0 0 0.007413 0 0 CSMD1 64478 broad.mit.edu 37 8 2944787 2944787 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:2944787G>T uc011kwk.1 - 49 7699 c.7309C>A c.(7309-7311)CAC>AAC p.H2437N CSMD1_uc011kwj.1_Missense_Mutation_p.H1766N|CSMD1_uc010lrg.2_Missense_Mutation_p.H505N NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2437 Sushi 14.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TTCAGGGGGTGGGTCAAACTG 0.488 NA 19 61 1.87028e-06 2.28898e-06 0.001882 1 0 SPAG11B 10407 broad.mit.edu 37 8 7308656 7308656 + Nonsense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:7308656T>A uc003wrk.2 - 3 447 c.280A>T c.(280-282)AGA>TGA p.R94* SPAG11B_uc003wrg.1_Intron|SPAG11B_uc003wrh.1_Intron|SPAG11B_uc003wri.2_Nonsense_Mutation_p.R41*|SPAG11B_uc003wrj.2_Intron|SPAG11B_uc003wrl.2_Intron NM_016512 NP_057596 Q08648 SG11B_HUMAN sperm associated antigen 11B isoform A 94 spermatogenesis extracellular region 0 COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236) CTGGCCCATCTAGGCCCTAAA 0.443 NA 8 60 0 0 0.008291 0 0 SGK223 157285 broad.mit.edu 37 8 8234233 8234233 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:8234233C>T uc003wsh.3 - 2 1686 c.1686G>A c.(1684-1686)GGG>GGA p.G562G NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 562 ATP binding|non-membrane spanning protein tyrosine kinase activity 0 ACACTGGGGGCCCTCCAGCAG 0.652 GBM(34;731 755 10259 33573 33867) NA 11 25 0 0 0.001368 0 0 RP1L1 94137 broad.mit.edu 37 8 10466404 10466404 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:10466404C>A uc003wtc.2 - 4 5433 c.5204G>T c.(5203-5205)AGC>ATC p.S1735I NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1735 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) AGGCCCCTGGCTCAGCCCCGG 0.657 NA 34 101 5.71845e-15 8.82089e-15 0.005524 1 0 RP1L1 94137 broad.mit.edu 37 8 10469309 10469310 + Missense_Mutation DNP CC CC AA TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:10469309_10469310CC>AA uc003wtc.2 - 4 2527_2528 c.2298_2299GG>TT c.(2296-2301)GCGGGG>GCTTGG p.G767W NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 767 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) GTCCTGGACCCCGCGTCCCCTG 0.658 NA 24 48 0 0 0.004672 0 0 C8orf74 203076 broad.mit.edu 37 8 10555264 10555264 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:10555264C>A uc003wtd.1 + 3 426 c.397C>A c.(397-399)CAG>AAG p.Q133K C8orf74_uc003wte.1_RNA NM_001040032 NP_001035121 Q6P047 CH074_HUMAN hypothetical protein LOC203076 133 0 COAD - Colon adenocarcinoma(149;0.0811) GGGCCAGGACCAGCAGGTCGA 0.617 NA 61 180 1.17954e-47 2.18156e-47 0.00361 1 0 SOX7 83595 broad.mit.edu 37 8 10583411 10583411 + Missense_Mutation SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:10583411T>C uc003wtf.2 - 2 1083 c.1004A>G c.(1003-1005)TAT>TGT p.Y335C SOX7_uc011kwz.1_Missense_Mutation_p.Y387C NM_031439 NP_113627 Q9BT81 SOX7_HUMAN SRY-box 7 335 Sox C-terminal. endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1) 1 COAD - Colon adenocarcinoma(149;0.0732) AGTGTTCAAATACTGGTCGAA 0.617 NA 10 30 0 0 0.001855 0 0 DOK2 9046 broad.mit.edu 37 8 21768283 21768283 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:21768283C>A uc003wzy.1 - 4 612 c.519G>T c.(517-519)CGG>CGT p.R173R DOK2_uc003wzx.1_Silent_p.R173R|DOK2_uc003wzz.1_Silent_p.R19R|DOK2_uc010lth.1_Silent_p.R19R NM_003974 NP_003965 O60496 DOK2_HUMAN docking protein 2 173 IRS-type PTB. blood coagulation|leukocyte migration cytosol identical protein binding|insulin receptor binding 0 Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) TCTCCCCAGCCCGGAGGGTAT 0.642 NA 8 17 0.000274275 0.000304364 0.004482 1 0 BMP1 649 broad.mit.edu 37 8 22035416 22035417 + Missense_Mutation DNP GG GG CT TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:22035416_22035417GG>CT uc003xbg.2 + 6 1026_1027 c.782_783GG>CT c.(781-783)GGG>GCT p.G261A BMP1_uc011kzb.1_RNA|BMP1_uc003xba.2_Missense_Mutation_p.G261A|BMP1_uc003xbb.2_Missense_Mutation_p.G261A|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Missense_Mutation_p.G10A|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Missense_Mutation_p.G10A|BMP1_uc011kzc.1_Missense_Mutation_p.G10A|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA NM_006129 NP_006120 P13497 BMP1_HUMAN bone morphogenetic protein 1 isoform 3 261 Metalloprotease. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding ovary(2)|breast(1) 3 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) GAGTCCCTGGGGGAGACCTATG 0.609 NA 30 133 0 0 0.004672 0 0 PIWIL2 55124 broad.mit.edu 37 8 22138988 22138988 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:22138988G>T uc003xbn.2 + 4 533 c.385G>T c.(385-387)GGG>TGG p.G129W PIWIL2_uc011kzf.1_Missense_Mutation_p.G129W|PIWIL2_uc010ltv.2_Missense_Mutation_p.G129W NM_018068 NP_060538 Q8TC59 PIWL2_HUMAN piwi-like 2 129 DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding skin(1) 1 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) GTTGGCGGCTGGGGACAGCAA 0.488 NA 11 40 3.07112e-06 3.69777e-06 0.000978 1 0 FBXO16 157574 broad.mit.edu 37 8 28321313 28321313 + Missense_Mutation SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:28321313T>C uc003xgu.2 - 4 256 c.158A>G c.(157-159)CAA>CGA p.Q53R ZNF395_uc003xgt.2_5'UTR|FBXO16_uc003xgv.2_Missense_Mutation_p.Q40R|FBXO16_uc003xgw.2_Missense_Mutation_p.Q40R NM_172366 NP_758954 Q8IX29 FBX16_HUMAN F-box only protein 16 53 ovary(1) 1 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249) TCTTCTTCTTTGAGAGTCTGT 0.438 NA 12 23 0 0 0.004007 0 0 GSR 2936 broad.mit.edu 37 8 30567405 30567405 + Silent SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:30567405T>A uc003xih.1 - 3 439 c.348A>T c.(346-348)ACA>ACT p.T116T NM_000637 NP_000628 P00390 GSHR_HUMAN glutathione reductase precursor 116 cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion cytosol|mitochondrion electron carrier activity|glutathione-disulfide reductase activity ovary(2)|pancreas(2)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125) Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157) AGTGGACAGCTGTGTTCCACA 0.383 NA 6 17 0 0 0.001168 0 0 TEX15 56154 broad.mit.edu 37 8 30705252 30705252 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:30705252C>T uc003xil.2 - 1 1282 c.1282G>A c.(1282-1284)GAA>AAA p.E428K NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 428 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GGTTCATTTTCATTTTTCCTA 0.338 NA 15 81 0 0 0.003163 0 0 NRG1 3084 broad.mit.edu 37 8 32617782 32617782 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:32617782G>A uc003xiv.2 + 11 1643 c.1126G>A c.(1126-1128)GTA>ATA p.V376I NRG1_uc011lbf.1_Missense_Mutation_p.V373I|NRG1_uc010lvo.2_Missense_Mutation_p.V373I|NRG1_uc003xiu.2_Missense_Mutation_p.V381I|NRG1_uc003xiw.2_Missense_Mutation_p.V373I|NRG1_uc003xit.2_Missense_Mutation_p.V376I|NRG1_uc010lvr.2_Missense_Mutation_p.V118I|NRG1_uc010lvs.2_Missense_Mutation_p.V118I|NRG1_uc010lvp.2_Missense_Mutation_p.V330I|NRG1_uc010lvq.2_Missense_Mutation_p.V313I|NRG1_uc011lbg.1_Missense_Mutation_p.V222I|NRG1_uc011lbh.1_Missense_Mutation_p.V219I|NRG1_uc003xja.2_Missense_Mutation_p.V187I NM_013964 NP_039258 Q02297 NRG1_HUMAN neuregulin 1 isoform HRG-alpha 376 Cytoplasmic (Potential). activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity 0 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) GATGTCATCCGTAGAAAACAG 0.527 NA 35 98 0 0 0.002522 0 0 RNF122 79845 broad.mit.edu 37 8 33416289 33416289 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:33416289C>A uc003xjo.1 - 2 428 c.26G>T c.(25-27)GGG>GTG p.G9V NM_024787 NP_079063 Q9H9V4 RN122_HUMAN ring finger protein 122 9 endoplasmic reticulum|Golgi apparatus|integral to membrane zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116) ACAGAAACACCCTGCAAAGGG 0.468 NA 7 23 5.18039e-06 6.18734e-06 0.00308 1 0 KCNU1 157855 broad.mit.edu 37 8 36793066 36793066 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:36793066G>A uc010lvw.2 + 27 3165 c.3078G>A c.(3076-3078)AAG>AAA p.K1026K NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 1026 Cytoplasmic (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) ATGAGTTCAAGCTGCTGCCTT 0.448 NA 40 73 0 0 0.00361 0 0 GPR124 25960 broad.mit.edu 37 8 37687411 37687411 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:37687411C>T uc003xkj.2 + 6 960 c.597C>T c.(595-597)CGC>CGT p.R199R GPR124_uc010lvy.2_Silent_p.R199R NM_032777 NP_116166 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 precursor 199 Extracellular (Potential).|LRRCT. central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|ovary(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GCCACCTGCGCTGGCTGCTGC 0.667 NA 20 54 0 0 0.00333 0 0 ANK1 286 broad.mit.edu 37 8 41530083 41530083 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:41530083C>A uc003xok.2 - 38 4969 c.4885G>T c.(4885-4887)GAT>TAT p.D1629Y NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.D1629Y|ANK1_uc003xoj.2_Missense_Mutation_p.D1629Y|ANK1_uc003xol.2_Intron|ANK1_uc003xom.2_Missense_Mutation_p.D1670Y NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1629 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TTTGTGGCATCTGAATCCACT 0.567 NA 49 129 1.00776e-21 1.70288e-21 0.00361 1 0 ANK1 286 broad.mit.edu 37 8 41580669 41580669 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:41580669C>A uc003xok.2 - 9 967 c.883G>T c.(883-885)GGG>TGG p.G295W NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.G295W|ANK1_uc003xoj.2_Missense_Mutation_p.G295W|ANK1_uc003xol.2_Missense_Mutation_p.G295W|ANK1_uc003xom.2_Missense_Mutation_p.G328W NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 295 ANK 8.|89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) ATTGGTGCCCCGTGGTCCAGC 0.502 NA 23 70 1.16021e-09 1.58715e-09 0.007291 1 0 IKBKB 3551 broad.mit.edu 37 8 42146232 42146232 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:42146232C>T uc003xow.1 + 3 363 c.186C>T c.(184-186)ATC>ATT p.I62I IKBKB_uc003xov.2_Silent_p.I62I|IKBKB_uc010lxh.1_Intron|IKBKB_uc011lco.1_Intron|IKBKB_uc010lxj.1_Intron|IKBKB_uc003xox.1_5'UTR|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Silent_p.I60I|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Intron NM_001556 NP_001547 O14920 IKKB_HUMAN inhibitor of nuclear factor kappa B kinase beta 62 Protein kinase. anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(3)|ovary(2)|lung(1)|skin(1) 7 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) GCCTGGAGATCCAGATCATGA 0.562 NA 6 11 0 0 0.001984 0 0 PRKDC 5591 broad.mit.edu 37 8 48689479 48689479 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:48689479T>A uc003xqi.2 - 86 12165 c.12108A>T c.(12106-12108)AAA>AAT p.K4036N PRKDC_uc003xqj.2_Missense_Mutation_p.K4005N|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 4036 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GGTACCAATTTTTTTCAGCAA 0.358 Esophageal Squamous(79;1091 1253 12329 31680 40677) NA NHEJ 15 18 0 0 0.00499 0 0 SNTG1 54212 broad.mit.edu 37 8 51617258 51617258 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:51617258C>T uc010lxy.1 + 17 1508 c.1137C>T c.(1135-1137)GCC>GCT p.A379A SNTG1_uc003xqs.1_Silent_p.A379A|SNTG1_uc010lxz.1_Silent_p.A379A|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 379 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GTGACCTCGCCCAGTGGGAAA 0.552 NA 37 33 0 0 0.005524 0 0 SNTG1 54212 broad.mit.edu 37 8 51705290 51705290 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:51705290C>A uc010lxy.1 + 20 1826 c.1455C>A c.(1453-1455)GCC>GCA p.A485A SNTG1_uc003xqs.1_Silent_p.A485A|SNTG1_uc010lxz.1_Silent_p.A448A|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 485 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TCTTTGCTGCCAAGGTAGCTT 0.398 NA 19 141 9.7654e-05 0.000110595 0.007413 1 0 SNTG1 54212 broad.mit.edu 37 8 51705359 51705359 + Silent SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:51705359T>A uc010lxy.1 + 20 1895 c.1524T>A c.(1522-1524)GCT>GCA p.A508A SNTG1_uc003xqs.1_Silent_p.A508A|SNTG1_uc010lxz.1_Silent_p.A471A|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 508 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) CCAGCTCTGCTACCACGAGCA 0.428 NA 66 69 0 0 0.00361 0 0 PXDNL 137902 broad.mit.edu 37 8 52232491 52232491 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:52232491C>G uc003xqu.3 - 23 4453 c.4352G>C c.(4351-4353)AGA>ACA p.R1451T PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1451 VWFC. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TCCTCGGTCTCTGCAAACTGG 0.512 NA 15 28 0 0 0.006122 0 0 PXDNL 137902 broad.mit.edu 37 8 52366326 52366326 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:52366326G>T uc003xqu.3 - 10 1103 c.1002C>A c.(1000-1002)ATC>ATA p.I334I NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 334 Ig-like C2-type 2. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CCTGAGGCTGGATTACAAAGC 0.448 NA 14 83 1.45105e-14 2.22216e-14 0.006122 1 0 ST18 9705 broad.mit.edu 37 8 53062531 53062531 + Missense_Mutation SNP C C T rs144486751 TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:53062531C>T uc003xqz.2 - 11 1969 c.1813G>A c.(1813-1815)GAA>AAA p.E605K ST18_uc011ldq.1_Missense_Mutation_p.E252K|ST18_uc011ldr.1_Missense_Mutation_p.E570K|ST18_uc011lds.1_Missense_Mutation_p.E510K|ST18_uc003xra.2_Missense_Mutation_p.E605K|ST18_uc003xrb.2_Missense_Mutation_p.E605K NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 605 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) ACTTCTATTTCGGCTCCCTGG 0.398 NA 4 105 0 0 0.001984 0 0 XKR4 114786 broad.mit.edu 37 8 56436132 56436132 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:56436132C>A uc003xsf.2 + 3 1331 c.1299C>A c.(1297-1299)TTC>TTA p.F433L NM_052898 NP_443130 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related 433 Helical; (Potential). integral to membrane pancreas(2) 2 Epithelial(17;0.000117)|all cancers(17;0.000836) AGATTGTGTTCGACATGGTGG 0.443 NA 142 121 3.03755e-85 5.71752e-85 0.00361 1 0 IMPAD1 54928 broad.mit.edu 37 8 57876397 57876397 + Silent SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:57876397G>C uc003xte.3 - 5 1318 c.1035C>G c.(1033-1035)GCC>GCG p.A345A NM_017813 NP_060283 Q9NX62 IMPA3_HUMAN inositol monophosphatase domain containing 1 345 Golgi apparatus|integral to membrane inositol-1(or 4)-monophosphatase activity|metal ion binding ovary(1) 1 all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448) TTCTGACCAGGGCCTGGTGGT 0.473 NA 44 108 0 0 0.00361 0 0 IMPAD1 54928 broad.mit.edu 37 8 57878817 57878817 + Silent SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:57878817C>G uc003xte.3 - 4 1024 c.741G>C c.(739-741)GGG>GGC p.G247G NM_017813 NP_060283 Q9NX62 IMPA3_HUMAN inositol monophosphatase domain containing 1 247 Golgi apparatus|integral to membrane inositol-1(or 4)-monophosphatase activity|metal ion binding ovary(1) 1 all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448) GTTTGACCATCCCTGAATGGG 0.493 NA 20 70 0 0 0.001882 0 0 PREX2 80243 broad.mit.edu 37 8 69011923 69011923 + Nonsense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:69011923G>T uc003xxv.1 + 23 2587 c.2560G>T c.(2560-2562)GAA>TAA p.E854* PREX2_uc003xxu.1_Nonsense_Mutation_p.E854*|PREX2_uc011lez.1_Nonsense_Mutation_p.E789* NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 854 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 GCAGATTCTTGAAGCCCTGGC 0.269 NA 26 71 3.73988e-18 6.09113e-18 0.00632 1 0 XKR9 389668 broad.mit.edu 37 8 71593456 71593456 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:71593456G>T uc003xyq.2 + 3 697 c.163G>T c.(163-165)GCT>TCT p.A55S XKR9_uc010lze.2_Missense_Mutation_p.A55S|XKR9_uc010lzd.2_5'UTR NM_001011720 NP_001011720 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related 55 Helical; (Potential). integral to membrane ovary(1)|skin(1) 2 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) AACACTTGTGGCTCAGTGTTT 0.373 NA 37 236 2.24893e-16 3.58047e-16 0.009718 1 0 TRPA1 8989 broad.mit.edu 37 8 72983985 72983985 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:72983985C>A uc003xza.2 - 2 404 c.229G>T c.(229-231)GAG>TAG p.E77* NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 77 Cytoplasmic (Potential).|ANK 1. integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) TCCATTAGCTCAATTTGGCCT 0.343 NA 31 31 3.33393e-15 5.16951e-15 0.004878 1 0 CRISPLD1 83690 broad.mit.edu 37 8 75898471 75898471 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:75898471G>A uc003yan.2 + 2 624 c.249G>A c.(247-249)ATG>ATA p.M83I NM_031461 NP_113649 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain 83 extracellular region ovary(1)|central_nervous_system(1) 2 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) CCTCTAATATGGAGTATATGG 0.358 NA 20 130 0 0 0.003954 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766314 77766314 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:77766314G>C uc003yav.2 + 10 7409 c.7022G>C c.(7021-7023)GGG>GCG p.G2341A ZFHX4_uc003yau.1_Missense_Mutation_p.G2386A|ZFHX4_uc003yaw.1_Missense_Mutation_p.G2341A NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2341 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TCTGGCTCTGGGACCAGCACC 0.522 NA HNSCC(33;0.089) 16 34 0 0 0.003163 0 0 ATP6V0D2 245972 broad.mit.edu 37 8 87163695 87163695 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:87163695G>A uc003ydp.1 + 7 886 c.817G>A c.(817-819)GTA>ATA p.V273I NM_152565 NP_689778 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 273 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding 0 TGTTTTTAAGGTATACAAACC 0.294 NA 25 33 0 0 0.005443 0 0 CNGB3 54714 broad.mit.edu 37 8 87666257 87666257 + Missense_Mutation SNP T T G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:87666257T>G uc003ydx.2 - 7 932 c.886A>C c.(886-888)ACT>CCT p.T296P CNGB3_uc010maj.2_Missense_Mutation_p.T158P NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 296 Cytoplasmic (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 TTTGTAGAAGTCCTGTAGTGT 0.264 NA 36 40 0 0 0.009718 0 0 CNGB3 54714 broad.mit.edu 37 8 87679267 87679267 + Silent SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:87679267G>C uc003ydx.2 - 6 784 c.738C>G c.(736-738)ACC>ACG p.T246T CNGB3_uc010maj.2_Silent_p.T108T NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 246 Extracellular (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 TGTTGTCTGCGGTTTGATATG 0.438 NA 40 55 0 0 0.00361 0 0 MMP16 4325 broad.mit.edu 37 8 89128842 89128843 + Missense_Mutation DNP GG GG CT TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:89128842_89128843GG>CT uc003yeb.3 - 6 1258_1259 c.976_977CC>AG c.(976-978)CCT>AGT p.P326S MMP16_uc003yec.2_Missense_Mutation_p.P326S NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 326 Extracellular (Potential). collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 TGGAGGCCGAGGAGGTTTTGGC 0.53 NA 83 83 0 0 0.004672 0 0 DPY19L4 286148 broad.mit.edu 37 8 95750606 95750606 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:95750606C>T uc003ygx.2 + 4 386 c.262C>T c.(262-264)CGG>TGG p.R88W DPY19L4_uc003ygy.2_Missense_Mutation_p.R25W NM_181787 NP_861452 Q7Z388 D19L4_HUMAN dpy-19-like 4 88 integral to membrane ovary(2) 2 Breast(36;3.85e-06) GGAGCTTGAACGGGAAATCAC 0.214 NA 17 64 0 0 0.008871 0 0 C8orf47 203111 broad.mit.edu 37 8 99102061 99102061 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:99102061C>A uc003yih.1 + 2 964 c.816C>A c.(814-816)GAC>GAA p.D272E NM_173549 NP_775820 Q6P6B1 CH047_HUMAN hypothetical protein LOC203111 272 Glu-rich. 0 Breast(36;2.31e-06) OV - Ovarian serous cystadenocarcinoma(57;0.214) AAGTATTGGACAGAAGTCAGC 0.443 NA 8 47 5.18039e-06 6.18734e-06 0.00308 1 0 ZFPM2 23414 broad.mit.edu 37 8 106815464 106815464 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:106815464G>A uc003ymd.2 + 8 3177 c.3154G>A c.(3154-3156)GAG>AAG p.E1052K ZFPM2_uc011lhs.1_Missense_Mutation_p.E783K NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 1052 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GAAACAAGATGAGAGACCTGC 0.488 NA 3 22 0 0 0.009096 0 0 NUDCD1 84955 broad.mit.edu 37 8 110308681 110308681 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:110308681C>T uc003ynb.3 - 3 502 c.391G>A c.(391-393)GAT>AAT p.D131N NUDCD1_uc003yna.2_Missense_Mutation_p.D102N|NUDCD1_uc010mcl.2_Missense_Mutation_p.D44N|NUDCD1_uc010mcm.1_Missense_Mutation_p.D44N NM_032869 NP_116258 Q96RS6 NUDC1_HUMAN NudC domain containing 1 isoform 1 131 ovary(1)|breast(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;1.56e-12) CCAGTTCCATCTGACAAGGTA 0.443 NA 49 180 0 0 0.00361 0 0 CSMD3 114788 broad.mit.edu 37 8 113966912 113966912 + Splice_Site SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:113966912C>T uc003ynu.2 - 8 1579 c.1420_splice c.e8+1 p.L474_splice CSMD3_uc003ynt.2_Splice_Site_p.L434_splice|CSMD3_uc011lhx.1_Splice_Site_p.L370_splice NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AGTACACTCACAGATAGAAAA 0.318 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 20 14 0 0 0.00278 0 0 TRPS1 7227 broad.mit.edu 37 8 116631712 116631712 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:116631712C>A uc003ynz.2 - 2 1033 c.574G>T c.(574-576)GAT>TAT p.D192Y TRPS1_uc011lhy.1_Missense_Mutation_p.D196Y|TRPS1_uc003yny.2_Missense_Mutation_p.D205Y|TRPS1_uc010mcy.2_Missense_Mutation_p.D192Y NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 192 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) ACACCCCCATCTGAAGGCACT 0.478 NA Langer-Giedion_syndrome 69 64 2.48295e-43 4.56384e-43 0.00361 1 0 COL14A1 7373 broad.mit.edu 37 8 121224795 121224795 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:121224795G>A uc003yox.2 + 13 1841 c.1576G>A c.(1576-1578)GTT>ATT p.V526I COL14A1_uc003yoy.2_Missense_Mutation_p.V204I|COL14A1_uc010mde.1_Missense_Mutation_p.V204I NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 526 Fibronectin type-III 3. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CAGTGATCCTGTTACGGGACA 0.453 NA 19 86 0 0 0.005443 0 0 WDR67 93594 broad.mit.edu 37 8 124162330 124162330 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:124162330A>T uc003ypp.1 + 21 3119 c.3029A>T c.(3028-3030)CAA>CTA p.Q1010L WDR67_uc011lig.1_Missense_Mutation_p.Q914L|WDR67_uc011lih.1_Missense_Mutation_p.Q900L|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.Q644L|WDR67_uc003ypt.1_Missense_Mutation_p.Q402L|WDR67_uc003ypu.1_Missense_Mutation_p.Q402L NM_145647 NP_663622 Q96DN5 WDR67_HUMAN WD repeat domain 67 isoform 1 1010 centrosome Rab GTPase activator activity skin(1) 1 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) AGAACCTCACAATTAAATGAC 0.353 NA 27 31 0 0 0.003755 0 0 FAM83A 84985 broad.mit.edu 37 8 124195292 124195292 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:124195292G>T uc003ypv.2 + 2 2210 c.196G>T c.(196-198)GTG>TTG p.V66L FAM83A_uc003ypw.2_Missense_Mutation_p.V66L|FAM83A_uc003ypy.2_Missense_Mutation_p.V66L|FAM83A_uc003ypx.2_Missense_Mutation_p.V66L|FAM83A_uc003ypz.2_Missense_Mutation_p.V66L NM_032899 NP_116288 Q86UY5 FA83A_HUMAN hypothetical protein LOC84985 isoform a 66 ovary(3)|skin(1) 4 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) CTTGTCCTCGGTGGAGGCCCA 0.682 NA 16 18 0.000566183 0.000622257 0.00499 1 0 MTSS1 9788 broad.mit.edu 37 8 125603473 125603473 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:125603473C>A uc003yrk.2 - 4 746 c.212G>T c.(211-213)GGG>GTG p.G71V MTSS1_uc003yrj.2_Missense_Mutation_p.G71V|MTSS1_uc003yrl.2_Missense_Mutation_p.G71V NM_014751 NP_055566 O43312 MTSS1_HUMAN metastasis suppressor 1 71 IMD. actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding ovary(1) 1 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CTCCCTGGTCCCACCTGAAAA 0.483 Esophageal Squamous(160;622 1893 3862 8546 12509) NA 9 64 4.68919e-08 6.0898e-08 0.008291 1 0 GSDMC 56169 broad.mit.edu 37 8 130762748 130762748 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:130762748G>T uc003ysr.2 - 11 1894 c.1012C>A c.(1012-1014)CAG>AAG p.Q338K NM_031415 NP_113603 Q9BYG8 GSDMC_HUMAN melanoma-derived leucine zipper, extra-nuclear 338 mitochondrion ovary(2)|skin(1) 3 ATGACATCCTGAACATCCTTT 0.493 NA 46 40 2.43468e-25 4.23435e-25 0.00361 1 0 EFR3A 23167 broad.mit.edu 37 8 133014952 133014952 + Missense_Mutation SNP A A C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:133014952A>C uc003yte.2 + 21 2510 c.2309A>C c.(2308-2310)AAA>ACA p.K770T NM_015137 NP_055952 Q14156 EFR3A_HUMAN EFR3 homolog A 770 plasma membrane binding ovary(3)|breast(1)|central_nervous_system(1) 5 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) TGTGAATCCAAAGTAAGTGAA 0.408 NA 25 22 0 0 0.009535 0 0 EFR3A 23167 broad.mit.edu 37 8 133015496 133015496 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:133015496A>T uc003yte.2 + 22 2525 c.2324A>T c.(2323-2325)CAT>CTT p.H775L NM_015137 NP_055952 Q14156 EFR3A_HUMAN EFR3 homolog A 775 plasma membrane binding ovary(3)|breast(1)|central_nervous_system(1) 5 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) AATTTGCTTCATGATAGACTT 0.318 NA 13 66 0 0 0.00245 0 0 FAM135B 51059 broad.mit.edu 37 8 139380195 139380195 + Nonsense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:139380195G>T uc003yuy.2 - 2 203 c.32C>A c.(31-33)TCG>TAG p.S11* FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 11 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TAGCTCTACCGAAAACTCAAC 0.303 NA HNSCC(54;0.14) 48 65 7.10663e-31 1.26406e-30 0.00361 1 0 COL22A1 169044 broad.mit.edu 37 8 139620186 139620186 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:139620186C>A uc003yvd.2 - 57 4472 c.4025G>T c.(4024-4026)GGA>GTA p.G1342V COL22A1_uc011ljo.1_Missense_Mutation_p.G622V NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1342 Pro-rich.|Gly-rich.|Collagen-like 13. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CACAGGGGTTCCTGAAGGGCC 0.502 NA HNSCC(7;0.00092) 21 67 2.27731e-05 2.63735e-05 0.001882 1 0 COL22A1 169044 broad.mit.edu 37 8 139767420 139767420 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:139767420G>T uc003yvd.2 - 21 2458 c.2011C>A c.(2011-2013)CCC>ACC p.P671T COL22A1_uc011ljo.1_5'UTR NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 671 Pro-rich.|Gly-rich.|Collagen-like 4. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGAGGACCGGGGGCGCCTTGG 0.557 NA HNSCC(7;0.00092) 23 68 1.5548e-18 2.53786e-18 0.005443 1 0 CYP11B1 1584 broad.mit.edu 37 8 143955804 143955804 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:143955804G>A uc003yxi.2 - 9 1504 c.1497C>T c.(1495-1497)TTC>TTT p.F499F CYP11B1_uc010mex.2_Silent_p.F198F|CYP11B1_uc003yxh.2_Silent_p.F149F|CYP11B1_uc003yxj.2_Silent_p.F433F|CYP11B1_uc010mey.2_Silent_p.F570F NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 499 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) TGATGGCTCTGAAGGTGAGGA 0.567 NA Familial_Hyperaldosteronism_type_I 33 49 0 0 0.002852 0 0 RHPN1 114822 broad.mit.edu 37 8 144464036 144464036 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:144464036G>T uc003yyb.2 + 14 1828 c.1695G>T c.(1693-1695)TGG>TGT p.W565C NM_052924 NP_443156 Q8TCX5 RHPN1_HUMAN rhophilin 1 590 PDZ. signal transduction intracellular large_intestine(1) 1 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) CATGCAGGTGGTGGAGACACG 0.662 NA 24 29 3.90053e-15 6.03547e-15 0.002445 1 0 FAM83H 286077 broad.mit.edu 37 8 144811213 144811213 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:144811213C>A uc003yzk.2 - 4 730 c.661G>T c.(661-663)GGG>TGG p.G221W FAM83H_uc010mfk.1_5'Flank NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 221 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) AAGGACTTCCCAGTGCGGCAG 0.652 NA 79 104 1.59803e-59 2.98901e-59 0.00361 1 0 EPPK1 83481 broad.mit.edu 37 8 144941191 144941191 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:144941191G>C uc003zaa.1 - 1 6244 c.6231C>G c.(6229-6231)GAC>GAG p.D2077E NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 2077 Plectin 35. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCCAGCCCGTGTCCTCTTGTG 0.587 NA 6 59 0 0 0.001984 0 0 PLEC 5339 broad.mit.edu 37 8 144991003 144991003 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:144991003C>A uc003zaf.1 - 32 13567 c.13397G>T c.(13396-13398)CGC>CTC p.R4466L PLEC_uc003zab.1_Missense_Mutation_p.R4329L|PLEC_uc003zac.1_Missense_Mutation_p.R4333L|PLEC_uc003zad.2_Missense_Mutation_p.R4329L|PLEC_uc003zae.1_Missense_Mutation_p.R4297L|PLEC_uc003zag.1_Missense_Mutation_p.R4307L|PLEC_uc003zah.2_Missense_Mutation_p.R4315L|PLEC_uc003zaj.2_Missense_Mutation_p.R4356L NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 4466 Globular 2.|Plectin 30. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GACAGGGAAGCGCTCACCGGT 0.657 NA 34 43 1.47197e-15 2.30645e-15 0.007835 1 0 FBXL6 26233 broad.mit.edu 37 8 145579728 145579728 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:145579728C>G uc003zcb.2 - 8 1397 c.1372G>C c.(1372-1374)GAG>CAG p.E458Q C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_Missense_Mutation_p.E185Q|FBXL6_uc003zca.2_Missense_Mutation_p.E452Q|FBXL6_uc010mfx.2_Missense_Mutation_p.E219Q|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank NM_012162 NP_036294 Q8N531 FBXL6_HUMAN F-box and leucine-rich repeat protein 6 isoform 458 LRR 10. proteolysis ubiquitin-protein ligase activity ovary(1)|lung(1) 2 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) AGGGCCTGCTCCAGGTCCTTC 0.607 NA 21 88 0 0 0.004656 0 0 DMRT3 58524 broad.mit.edu 37 9 990869 990869 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr9:990869G>T uc003zgw.1 + 2 1321 c.1283G>T c.(1282-1284)CGC>CTC p.R428L NM_021240 NP_067063 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 428 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity p.R428C(1) ovary(2)|central_nervous_system(1) 3 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) CTTCCTGCCCGCGCCACGGAA 0.552 NA 12 14 0.00010058 0.000113736 0.001368 1 0 KIAA0020 9933 broad.mit.edu 37 9 2834129 2834129 + Silent SNP T T C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr9:2834129T>C uc003zhp.1 - 4 438 c.342A>G c.(340-342)AAA>AAG p.K114K KIAA0020_uc010mhc.1_Silent_p.K113K|KIAA0020_uc003zhq.1_Silent_p.K114K NM_014878 NP_055693 Q15397 K0020_HUMAN KIAA0020 protein 114 endoplasmic reticulum|nucleolus RNA binding ovary(1) 1 GBM - Glioblastoma multiforme(50;0.0319) TCTTCTTCTTTTTGAAGTCAT 0.348 NA 7 6 0 0 0.004482 0 0 INSL4 3641 broad.mit.edu 37 9 5231714 5231714 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr9:5231714C>A uc003ziy.2 + 1 296 c.191C>A c.(190-192)CCC>CAC p.P64H NM_002195 NP_002186 Q14641 INSL4_HUMAN insulin-like 4 precursor 64 cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction extracellular space|soluble fraction hormone activity|insulin-like growth factor receptor binding 0 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14) TCTGGACGTCCCAAAGGTGAG 0.512 NA 11 13 0.000978159 0.00106403 0.000978 1 0 NFIB 4781 broad.mit.edu 37 9 14307439 14307439 + Silent SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr9:14307439T>A uc003zle.2 - 2 546 c.111A>T c.(109-111)CGA>CGT p.R37R NFIB_uc003zlf.2_Silent_p.R37R|NFIB_uc011lmo.1_Silent_p.R37R NM_005596 NP_005587 O00712 NFIB_HUMAN nuclear factor I/B 37 CTF/NF-I. anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity 0 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) ACTTGCGTTTTCGAGCCTGCA 0.443 Esophageal Squamous(132;921 1730 14828 40753 46471) NA T MYB|HGMA2 adenoid cystic carcinoma|lipoma 16 10 0 0 0.00499 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18889718 18889718 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr9:18889718G>T uc003zne.3 + 25 4742 c.4615G>T c.(4615-4617)GCG>TCG p.A1539S ADAMTSL1_uc003znf.3_Missense_Mutation_p.A240S NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 1539 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) GCAGCCCATCGCGTGCAACCG 0.667 NA 3 5 2.56e-06 3.10246e-06 0.009096 1 0 MLLT3 4300 broad.mit.edu 37 9 20414338 20414338 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr9:20414338C>A uc003zoe.2 - 5 765 c.506G>T c.(505-507)AGC>ATC p.S169I MLLT3_uc011lne.1_Missense_Mutation_p.S137I|MLLT3_uc011lnf.1_Missense_Mutation_p.S166I|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.A131S NM_004529 NP_004520 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia 169 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) gctgctgctgctgctactgct 0.149 NA T MLL ALL 3 8 1.23904e-05 1.44506e-05 0.000602 1 0 KIAA1797 54914 broad.mit.edu 37 9 20740332 20740332 + Missense_Mutation SNP A A C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr9:20740332A>C uc003zog.1 + 7 748 c.385A>C c.(385-387)ACC>CCC p.T129P NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 129 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) GAGTATATATACCATTAGGTA 0.274 NA 17 21 0 0 0.007413 0 0 C9orf131 138724 broad.mit.edu 37 9 35044853 35044853 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr9:35044853C>A uc003zvw.2 + 2 2256 c.2227C>A c.(2227-2229)CGC>AGC p.R743S C9orf131_uc003zvu.2_Missense_Mutation_p.R695S|C9orf131_uc003zvv.2_Missense_Mutation_p.R670S|C9orf131_uc003zvx.2_Missense_Mutation_p.R708S NM_203299 NP_976044 Q5VYM1 CI131_HUMAN hypothetical protein LOC138724 isoform A 743 0 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) GAAGATTGAACGCACTCATCC 0.592 NA 28 35 2.09667e-21 3.52686e-21 0.003755 1 0 FOXD4L5 653427 broad.mit.edu 37 9 70177786 70177786 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr9:70177786C>A uc010moc.2 - 1 1030 c.198G>T c.(196-198)GGG>GGT p.G66G NM_001126334 NP_001119806 Q5VV16 FX4L5_HUMAN forkhead box D4-like 5 66 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 GAAGCGCAACCCCGCCCCACC 0.562 NA 17 55 9.57634e-11 1.3434e-10 0.00333 1 0 TRPM6 140803 broad.mit.edu 37 9 77354770 77354770 + Missense_Mutation SNP C C A rs142946646 TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr9:77354770C>A uc004ajl.1 - 34 5594 c.5356G>T c.(5356-5358)GTC>TTC p.V1786F TRPM6_uc004ajk.1_Missense_Mutation_p.V1781F|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.V737F|TRPM6_uc010mpd.1_Missense_Mutation_p.V619F|TRPM6_uc010mpe.1_Missense_Mutation_p.V333F|TRPM6_uc004ajj.1_Missense_Mutation_p.V742F NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1786 Alpha-type protein kinase.|Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 CAAGTGCTGACGACTCTCATA 0.502 NA 15 33 2.61681e-11 3.72008e-11 0.00245 1 0 OSTF1 26578 broad.mit.edu 37 9 77745523 77745523 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr9:77745523C>T uc004ajv.3 + 4 373 c.162C>T c.(160-162)TCC>TCT p.S54S OSTF1_uc004ajw.3_Silent_p.S11S|OSTF1_uc004ajx.3_Silent_p.S57S NM_012383 NP_036515 Q92882 OSTF1_HUMAN osteoclast stimulating factor 1 54 SH3. ossification|signal transduction cytoplasm identical protein binding skin(1) 1 AAGGCACCTCCAAAGGCAGGA 0.383 NA 22 33 0 0 0.00632 0 0 FLJ46321 389763 broad.mit.edu 37 9 84608662 84608662 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr9:84608662C>T uc004amn.2 + 4 3324 c.3277C>T c.(3277-3279)CCA>TCA p.P1093S NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 1093 integral to membrane 0 TCTGCCCCCGCCACACAGCAT 0.517 NA 8 22 0 0 0.004482 0 0 ZCCHC6 79670 broad.mit.edu 37 9 88938432 88938432 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr9:88938432C>A uc004aoq.2 - 13 2448 c.2233G>T c.(2233-2235)GAA>TAA p.E745* ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Nonsense_Mutation_p.E622*|ZCCHC6_uc004aou.2_Nonsense_Mutation_p.E745* NM_024617 NP_078893 Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 745 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding ovary(2) 2 CTTCCTGTTTCTGGATGGTAT 0.433 NA 38 40 5.04308e-16 7.96924e-16 0.00623 1 0 DAPK1 1612 broad.mit.edu 37 9 90255720 90255720 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr9:90255720G>C uc004apc.2 + 9 924 c.786G>C c.(784-786)AAG>AAC p.K262N DAPK1_uc004ape.2_Missense_Mutation_p.K262N|DAPK1_uc004apd.2_Missense_Mutation_p.K262N|DAPK1_uc011ltg.1_Missense_Mutation_p.K262N|DAPK1_uc011lth.1_5'UTR NM_004938 NP_004929 P53355 DAPK1_HUMAN death-associated protein kinase 1 262 Protein kinase. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity ovary(1)|breast(1) 2 CCTCAAGGAAGAGAATGACAA 0.443 NA Chronic_Lymphocytic_Leukemia_Familial_Clustering_of 45 76 0 0 0.00361 0 0 Unknown 0 broad.mit.edu 37 9 90745252 90745252 + Silent SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr9:90745252G>T uc011lti.1 - 4 2729 c.2700C>A c.(2698-2700)CCC>CCA p.P900P uc004apx.1_5'Flank SubName: Full=cDNA FLJ59639; NA GATGGCCCTGGGGCACTTGAG 0.552 NA 21 22 1.50039e-11 2.15148e-11 0.001882 1 0 C9orf156 51531 broad.mit.edu 37 9 100667197 100667197 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr9:100667197C>T uc004axv.1 - 5 1221 c.1144G>A c.(1144-1146)GAT>AAT p.D382N C9orf156_uc004axw.1_Missense_Mutation_p.D279N|C9orf156_uc004axx.1_Missense_Mutation_p.D236N NM_016481 NP_057565 Q9BU70 NAP1_HUMAN Nef associated protein 1 382 interspecies interaction between organisms hydrolase activity 0 Acute lymphoblastic leukemia(62;0.158) GACCGAGGATCCGCTGACAGC 0.483 NA 12 26 0 0 0.001368 0 0 COL15A1 1306 broad.mit.edu 37 9 101800987 101800987 + Nonsense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr9:101800987C>A uc004azb.1 + 22 2653 c.2447C>A c.(2446-2448)TCG>TAG p.S816* NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 816 Nonhelical region 4 (NC4). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) ATGAATTTCTCGGACATTCCT 0.483 NA 25 45 2.42023e-17 3.89912e-17 0.003271 1 0 CYLC2 1539 broad.mit.edu 37 9 105767107 105767107 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr9:105767107C>A uc004bbs.2 + 4 381 c.311C>A c.(310-312)ACT>AAT p.T104N NM_001340 NP_001331 Q14093 CYLC2_HUMAN cylicin 2 104 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton skin(1) 1 all_hematologic(171;0.125) CCAACTCGTACTGTCGAGGTG 0.368 NA 4 13 0.000602214 0.00065942 0.000602 1 0 OR13F1 138805 broad.mit.edu 37 9 107267456 107267456 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr9:107267456C>G uc011lvm.1 + 1 913 c.913C>G c.(913-915)CTG>GTG p.L305V NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, 305 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GAAAAAATTGCTGATTAGAAA 0.353 NA 12 24 0 0 0.001855 0 0 OR13C8 138802 broad.mit.edu 37 9 107332233 107332233 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr9:107332233C>A uc011lvo.1 + 1 785 c.785C>A c.(784-786)CCT>CAT p.P262H NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, 262 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TACGCAAAGCCTGAGTCTAAA 0.458 NA 12 26 6.40141e-05 7.28859e-05 0.000978 1 0 EPB41L4B 54566 broad.mit.edu 37 9 112018505 112018505 + Splice_Site SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr9:112018505C>T uc004bdz.1 - 9 1136 c.841_splice c.e9-1 p.G281_splice EPB41L4B_uc004bea.2_Splice_Site_p.G281_splice NM_019114 NP_061987 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|skin(1) 3 CATCTCTTCCCTACAAACAAA 0.393 NA 22 30 0 0 0.003954 0 0 DAB2IP 153090 broad.mit.edu 37 9 124534959 124534959 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr9:124534959G>T uc004bln.2 + 12 2137 c.2068G>T c.(2068-2070)GGG>TGG p.G690W DAB2IP_uc004blo.2_Missense_Mutation_p.G594W|DAB2IP_uc004blp.2_Missense_Mutation_p.G123W NM_032552 NP_115941 Q5VWQ8 DAB2P_HUMAN disabled homolog 2 interacting protein isoform 718 activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity ovary(1)|central_nervous_system(1) 2 AAGGTCCTCCGGGGTCCAGCC 0.567 NA 21 33 1.50039e-11 2.15148e-11 0.001882 1 0 LHX6 26468 broad.mit.edu 37 9 124976561 124976561 + Splice_Site SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr9:124976561C>A uc010mvw.2 - 5 805 c.696_splice c.e5+1 p.Q232_splice LHX6_uc004blx.3_Splice_Site_p.Q261_splice|LHX6_uc004bly.3_Splice_Site_p.Q261_splice NM_014368 NP_055183 Q9UPM6 LHX6_HUMAN LIM homeobox protein 6 isoform 1 cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TGCAGCGGTACCTGCAGCTGT 0.602 NA 7 15 0.000442599 0.000487515 0.006214 1 0 CRB2 286204 broad.mit.edu 37 9 126125366 126125366 + Missense_Mutation SNP A A C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr9:126125366A>C uc004bnx.1 + 2 409 c.317A>C c.(316-318)GAG>GCG p.E106A CRB2_uc004bnw.1_Missense_Mutation_p.E106A NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 precursor 106 Extracellular (Potential).|EGF-like 1. extracellular region|integral to membrane|plasma membrane calcium ion binding ovary(1) 1 CCACGCTGCGAGCTGGACATC 0.672 NA 11 9 0 0 0.001368 0 0 ZNF79 7633 broad.mit.edu 37 9 130207408 130207408 + Nonsense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr9:130207408G>T uc004bqw.3 + 5 1843 c.1429G>T c.(1429-1431)GAG>TAG p.E477* ZNF79_uc011maf.1_Nonsense_Mutation_p.E453*|ZNF79_uc011mag.1_Nonsense_Mutation_p.E453* NM_007135 NP_009066 Q15937 ZNF79_HUMAN zinc finger protein 79 477 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 CGAATGCAGCGAGTGTGGGAA 0.517 NA 41 82 8.94452e-30 1.58339e-29 0.00361 1 0 SARDH 1757 broad.mit.edu 37 9 136595228 136595228 + Nonsense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr9:136595228G>A uc004cep.3 - 5 906 c.772C>T c.(772-774)CAG>TAG p.Q258* SARDH_uc004ceo.2_Nonsense_Mutation_p.Q258*|SARDH_uc011mdn.1_Nonsense_Mutation_p.Q258*|SARDH_uc011mdo.1_Nonsense_Mutation_p.Q90* NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 258 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GAACCATGCTGAGTCTCCACA 0.582 NA 20 34 0 0 0.001882 0 0 MXRA5 25878 broad.mit.edu 37 X 3239345 3239345 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:3239345C>G uc004crg.3 - 5 4538 c.4381G>C c.(4381-4383)GAT>CAT p.D1461H NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1461 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGATCTTGATCAAGGGTGGTG 0.493 NA 9 6 0 0 0.004482 0 0 MSL3 10943 broad.mit.edu 37 X 11790778 11790778 + Nonsense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:11790778G>T uc004cuw.2 + 12 1525 c.1420G>T c.(1420-1422)GAG>TAG p.E474* MSL3_uc004cux.2_Nonsense_Mutation_p.E415*|MSL3_uc011mig.1_Nonsense_Mutation_p.E325*|MSL3_uc011mih.1_Nonsense_Mutation_p.E462*|MSL3_uc004cuy.2_Nonsense_Mutation_p.E308* NM_078629 NP_523353 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3-like 1 isoform a 474 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GTCCTTTTCTGAGAAGAATCT 0.333 NA 7 8 0.000274275 0.000304364 0.004482 1 0 GLRA2 2742 broad.mit.edu 37 X 14622519 14622519 + Missense_Mutation SNP T T A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:14622519T>A uc010nep.2 + 6 909 c.577T>A c.(577-579)TTT>ATT p.F193I GLRA2_uc010neq.2_Missense_Mutation_p.F193I|GLRA2_uc004cwe.3_Missense_Mutation_p.F193I|GLRA2_uc011mio.1_Missense_Mutation_p.F104I|GLRA2_uc011mip.1_Missense_Mutation_p.F171I NM_001118885 NP_001112357 P23416 GLRA2_HUMAN glycine receptor, alpha 2 isoform A 193 Extracellular (Probable). neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(1)|lung(1) 2 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) GCTGGAGAGTTGTAAGTCACC 0.418 NA 34 20 0 0 0.005524 0 0 ZNF645 158506 broad.mit.edu 37 X 22291500 22291500 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:22291500A>T uc004dai.1 + 1 441 c.392A>T c.(391-393)CAG>CTG p.Q131L NM_152577 NP_689790 Q8N7E2 ZN645_HUMAN zinc finger protein 645 131 C2H2-type. intracellular zinc ion binding lung(1)|pancreas(1) 2 AAAAGCTTACAGGCTCATATC 0.443 NA 15 14 0 0 0.00499 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212975 26212975 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:26212975C>A uc004dbr.2 + 2 1161 c.1012C>A c.(1012-1014)CAA>AAA p.Q338K MAGEB6_uc010ngc.1_Missense_Mutation_p.Q118K NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 338 MAGE. ovary(3) 3 AGATTTGGTGCAAGATAAGTA 0.498 NA 37 30 9.72345e-25 1.68517e-24 0.00361 1 0 FAM47A 158724 broad.mit.edu 37 X 34148498 34148498 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:34148498G>T uc004ddg.2 - 1 1931 c.1898C>A c.(1897-1899)CCC>CAC p.P633H NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 633 ovary(4)|central_nervous_system(1) 5 TCTGTACTTGGGGGTAAAGTC 0.443 NA 17 16 3.52763e-06 4.24057e-06 0.00499 1 0 SYTL5 94122 broad.mit.edu 37 X 37965997 37965997 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:37965997G>T uc004ddu.2 + 12 1841 c.1307G>T c.(1306-1308)GGA>GTA p.G436V SYTL5_uc004ddv.2_Missense_Mutation_p.G436V|SYTL5_uc004ddx.2_Missense_Mutation_p.G458V NM_001163335 NP_001156807 Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 isoform 1 436 C2 1. intracellular protein transport membrane metal ion binding|Rab GTPase binding skin(1) 1 CTGGCCATAGGAGATGAAAAG 0.408 NA 8 15 5.18039e-06 6.18734e-06 0.00308 1 0 ZNF81 347344 broad.mit.edu 37 X 47775276 47775277 + Missense_Mutation DNP GA GA TG TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:47775276_47775277GA>TG uc010nhy.1 + 6 1599_1600 c.1231_1232GA>TG c.(1231-1233)GAG>TGG p.E411W NM_007137 NP_009068 P51508 ZNF81_HUMAN zinc finger protein 81 411 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(315;0.0973) TCACACTGGAGAGAGACATCAC 0.421 NA 10 8 0 0 0.004672 0 0 CCNB3 85417 broad.mit.edu 37 X 50094343 50094343 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:50094343A>T uc004dox.3 + 12 4362 c.4064A>T c.(4063-4065)AAG>ATG p.K1355M CCNB3_uc004doy.2_Missense_Mutation_p.K1355M|CCNB3_uc004doz.2_Missense_Mutation_p.K251M|CCNB3_uc010njq.2_Missense_Mutation_p.K247M|CCNB3_uc004dpa.2_Missense_Mutation_p.K194M NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 1355 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) GATAGTCTCAAGGCTGTGTAT 0.458 NA 58 48 0 0 0.00361 0 0 SHROOM4 57477 broad.mit.edu 37 X 50377003 50377003 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:50377003C>T uc004dpe.2 - 4 2096 c.2070G>A c.(2068-2070)AGG>AGA p.R690R SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Silent_p.R574R NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 690 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding upper_aerodigestive_tract(1) 1 Ovarian(276;0.236) ACTGGCCAGGCCTCTGGCCAG 0.582 NA 6 7 0 0 0.001168 0 0 SMC1A 8243 broad.mit.edu 37 X 53439185 53439185 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:53439185C>T uc004dsg.2 - 6 942 c.873G>A c.(871-873)TTG>TTA p.L291L SMC1A_uc011moe.1_Silent_p.L269L|SMC1A_uc011mof.1_Intron NM_006306 NP_006297 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 291 Potential. cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity ovary(5)|central_nervous_system(1) 6 GCTTCTGGTTCAATTCTGAGT 0.512 NA 6 11 0 0 0.00308 0 0 MTMR8 55613 broad.mit.edu 37 X 63444721 63444721 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:63444721C>T uc011mou.1 - 10 2003 c.1935G>A c.(1933-1935)CTG>CTA p.L645L ASB12_uc004dvp.1_Silent_p.L261L|ASB12_uc004dvq.1_Silent_p.L270L|ASB12_uc004dvr.1_Silent_p.L270L NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 Error:Variant_position_missing_in_Q96EF0_after_alignment nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 GGGCCTGTAGCAGCAATGCAA 0.502 NA 13 12 0 0 0.008871 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64709138 64709138 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:64709138G>A uc010nko.2 + 1 433 c.424G>A c.(424-426)GAT>AAT p.D142N NM_001010888 NP_001010888 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 142 endonuclease activity|nucleic acid binding|zinc ion binding lung(1)|kidney(1)|pancreas(1) 3 GAACAAAGGTGATTCAGAAGG 0.448 NA 23 18 0 0 0.004656 0 0 SLC7A3 84889 broad.mit.edu 37 X 70148374 70148374 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:70148374G>T uc004dyn.2 - 4 797 c.639C>A c.(637-639)GAC>GAA p.D213E SLC7A3_uc004dyo.2_Missense_Mutation_p.D213E NM_032803 NP_116192 Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid 213 Extracellular (Potential). cellular nitrogen compound metabolic process integral to membrane|plasma membrane ovary(1)|kidney(1) 2 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) AGTTGTGCACGTCCCCCTTAA 0.517 NA 6 2 8.12818e-05 9.21236e-05 0.001984 1 0 MED12 9968 broad.mit.edu 37 X 70343028 70343028 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:70343028G>T uc004dyy.2 + 11 1768 c.1569G>T c.(1567-1569)ATG>ATT p.M523I MED12_uc011mpq.1_Missense_Mutation_p.M523I|MED12_uc004dyz.2_Missense_Mutation_p.M523I|MED12_uc004dza.2_Missense_Mutation_p.M370I NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 523 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) ATCGTGCTATGGTGGTAGCCA 0.502 NA 24 13 3.28513e-13 4.90953e-13 0.003954 1 0 MED12 9968 broad.mit.edu 37 X 70345907 70345907 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:70345907G>T uc004dyy.2 + 18 2643 c.2444G>T c.(2443-2445)CGG>CTG p.R815L MED12_uc011mpq.1_Missense_Mutation_p.R815L|MED12_uc004dyz.2_Missense_Mutation_p.R815L|MED12_uc004dza.2_Missense_Mutation_p.R662L NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 815 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) GGGCAGAAGCGGCGACGCAAC 0.552 NA 52 40 3.28156e-27 5.7816e-27 0.00361 1 0 CYSLTR1 10800 broad.mit.edu 37 X 77528533 77528533 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:77528533G>A uc004edb.2 - 3 1111 c.711C>T c.(709-711)GTC>GTT p.V237V CYSLTR1_uc010nma.2_Silent_p.V237V|CYSLTR1_uc010nmb.2_Silent_p.V237V NM_006639 NP_006630 Q9Y271 CLTR1_HUMAN cysteinyl leukotriene receptor 1 237 Helical; Name=6; (Potential). elevation of cytosolic calcium ion concentration|respiratory gaseous exchange integral to plasma membrane|membrane fraction leukotriene receptor activity ovary(1) 1 Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549) CAGCGGTCACGACCATGATCA 0.333 NA 16 11 0 0 0.00499 0 0 DACH2 117154 broad.mit.edu 37 X 86067905 86067905 + Silent SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:86067905G>A uc004eew.2 + 8 1457 c.1287G>A c.(1285-1287)AAG>AAA p.K429K DACH2_uc004eex.2_Silent_p.K416K|DACH2_uc010nmq.2_Silent_p.K295K|DACH2_uc011mra.1_Silent_p.K262K|DACH2_uc010nmr.2_Silent_p.K210K|DACH2_uc004eey.2_Silent_p.K112K|DACH2_uc004eez.2_Silent_p.K112K NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 429 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 CCTTGGACAAGATACAGCTGA 0.443 NA 18 6 0 0 0.001882 0 0 SYTL4 94121 broad.mit.edu 37 X 99955908 99955908 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:99955908C>A uc004egd.3 - 7 880 c.524G>T c.(523-525)CGG>CTG p.R175L SYTL4_uc010nnc.2_Missense_Mutation_p.R175L|SYTL4_uc004ege.3_Missense_Mutation_p.R175L|SYTL4_uc004egf.3_Missense_Mutation_p.R175L|SYTL4_uc004egg.3_Missense_Mutation_p.R175L NM_080737 NP_542775 Q96C24 SYTL4_HUMAN synaptotagmin-like 4 175 exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding ovary(2) 2 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTCCTTCTGCCGCTCCTGAAT 0.373 NA 20 23 6.32553e-13 9.41548e-13 0.004656 1 0 XKRX 402415 broad.mit.edu 37 X 100178007 100178007 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:100178007C>G uc004egn.2 - 2 984 c.379G>C c.(379-381)GAG>CAG p.E127Q XKRX_uc011mre.1_Intron NM_212559 NP_997724 Q6PP77 XKR2_HUMAN XK, Kell blood group complex subunit-related, 127 integral to membrane|plasma membrane breast(1) 1 TCCTGCTCCTCTTTCTTCCAC 0.507 NA 17 23 0 0 0.010504 0 0 BTK 695 broad.mit.edu 37 X 100615557 100615557 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:100615557C>A uc004ehg.2 - 8 968 c.775G>T c.(775-777)GGG>TGG p.G259W BTK_uc004ehf.2_5'Flank|BTK_uc010nnh.2_5'Flank|BTK_uc010nni.2_5'Flank|BTK_uc004ehe.2_5'Flank|BTK_uc010nnj.2_5'Flank|BTK_uc010nnk.2_5'Flank|BTK_uc010nnl.2_5'Flank|BTK_uc010nnm.2_5'Flank|BTK_uc010nnn.2_Missense_Mutation_p.G259W|BTK_uc010nno.2_Missense_Mutation_p.G293W|BTK_uc004ehh.1_5'Flank|BTK_uc004ehi.2_Missense_Mutation_p.G259W NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 259 SH3. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 TGGACTCACCCATTTTTATCT 0.498 NA Agammaglobulinemia_X-linked 15 15 1.33834e-09 1.82244e-09 0.007413 1 0 MCART6 401612 broad.mit.edu 37 X 103349077 103349077 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:103349077C>A uc004elu.2 - 2 1045 c.864G>T c.(862-864)ACG>ACT p.T288T NM_001012755 NP_001012773 Q5H9E4 MCAR6_HUMAN mitochondrial carrier triple repeat 6 288 Solcar 3.|Helical; Name=6; (Potential). transport integral to membrane|mitochondrial inner membrane 0 CATGGATTGCCGTAGTGAGGC 0.532 NA 4 12 0.000602214 0.00065942 0.000602 1 0 SERPINA7 6906 broad.mit.edu 37 X 105280605 105280605 + Missense_Mutation SNP C C G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:105280605C>G uc004eme.1 - 1 461 c.445G>C c.(445-447)GAT>CAT p.D149H SERPINA7_uc010npd.2_Missense_Mutation_p.D149H|SERPINA7_uc010npe.1_Missense_Mutation_p.D149H NM_000354 NP_000345 P05543 THBG_HUMAN serine (or cysteine) proteinase inhibitor, clade 149 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity 0 Levothyroxine(DB00451)|Liothyronine(DB00279) GTCTTGACATCATTCAAGAAC 0.428 NA 22 38 0 0 0.003954 0 0 ALG13 79868 broad.mit.edu 37 X 110970074 110970074 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:110970074G>T uc011msy.1 + 16 1801 c.1767G>T c.(1765-1767)ATG>ATT p.M589I ALG13_uc011msx.1_Missense_Mutation_p.M485I|ALG13_uc011msz.1_Missense_Mutation_p.M511I|ALG13_uc011mta.1_Missense_Mutation_p.M485I|ALG13_uc011mtb.1_Missense_Mutation_p.M485I Q9NP73 ALG13_HUMAN SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae); 589 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity lung(1) 1 AGAAGAAGATGTTCAAGAAAA 0.443 NA 14 28 0.00498961 0.00526582 0.00499 1 0 TRPC5 7224 broad.mit.edu 37 X 111195569 111195569 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:111195569G>C uc004epl.1 - 2 999 c.80C>G c.(79-81)ACA>AGA p.T27R TRPC5_uc004epm.1_Missense_Mutation_p.T27R NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 27 Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 AGAGAGCTCTGTCTCAGCCCT 0.507 NA 11 15 0 0 0.001368 0 0 HTR2C 3358 broad.mit.edu 37 X 114141351 114141351 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:114141351C>A uc004epu.1 + 6 1478 c.750C>A c.(748-750)CAC>CAA p.H250Q HTR2C_uc010nqc.1_Missense_Mutation_p.H250Q|HTR2C_uc004epv.1_Silent_p.R219R NM_000868 NP_000859 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C 250 Cytoplasmic (By similarity). cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity ovary(3) 3 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) TGTTACTGCACGGCCACACCG 0.512 NA 54 60 6.3091e-27 1.11025e-26 0.00361 1 0 DOCK11 139818 broad.mit.edu 37 X 117786007 117786007 + Silent SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:117786007C>T uc004eqp.2 + 42 4725 c.4662C>T c.(4660-4662)ATC>ATT p.I1554I DOCK11_uc004eqq.2_Silent_p.I1333I NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1554 DHR-2. blood coagulation cytosol GTP binding ovary(3) 3 TATTCATTATCAATAATTTTG 0.338 NA 5 11 0 0 0.000602 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298782 125298782 + Missense_Mutation SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:125298782C>A uc004euk.1 - 1 1153 c.1126G>T c.(1126-1128)GAC>TAC p.D376Y NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 376 WD 4. lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 GCGCGGATGTCATAGAAGAGC 0.647 NA 12 25 1.3612e-06 1.67559e-06 0.003163 1 0 BCORL1 63035 broad.mit.edu 37 X 129173179 129173179 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:129173179G>T uc004evb.1 + 10 4654 c.4540G>T c.(4540-4542)GAT>TAT p.D1514Y BCORL1_uc004evc.1_Missense_Mutation_p.D350Y NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 1514 ANK 2. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 CTATGGGGCCGATCCCACACT 0.567 NA 13 19 0.000219431 0.000246632 0.00245 1 0 ZNF280C 55609 broad.mit.edu 37 X 129354419 129354419 + Silent SNP T T G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:129354419T>G uc004evm.2 - 13 1585 c.1431A>C c.(1429-1431)CTA>CTC p.L477L ZNF280C_uc010nrf.1_Silent_p.L428L NM_017666 NP_060136 Q8ND82 Z280C_HUMAN zinc finger protein 280C 477 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1) 3 TCAAAAATTGTAGTCTGCATT 0.388 NA 13 23 0 0 0.001855 0 0 AFF2 2334 broad.mit.edu 37 X 148037342 148037342 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:148037342C>A uc004fcp.2 + 11 2246 c.1767C>A c.(1765-1767)CTC>CTA p.L589L AFF2_uc004fcq.2_Silent_p.L579L|AFF2_uc004fcr.2_Silent_p.L550L|AFF2_uc011mxb.1_Silent_p.L554L|AFF2_uc004fcs.2_Silent_p.L556L|AFF2_uc011mxc.1_Silent_p.L230L NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 589 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) GGCCTCTCCTCAGTCTCATTA 0.483 NA 29 31 2.12542e-12 3.1323e-12 0.00632 1 0 MAGEA5 4104 broad.mit.edu 37 X 151283837 151283837 + Missense_Mutation SNP G G A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:151283837G>A uc004ffj.2 - 3 381 c.176C>T c.(175-177)CCA>CTA p.P59L NM_021049 NP_066387 P43359 MAGA5_HUMAN melanoma antigen family A, 5 59 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) GAGAGGACCTGGTGACCCAGC 0.612 NA 28 12 0 0 0.003271 0 0 RENBP 5973 broad.mit.edu 37 X 153205581 153205581 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chrX:153205581G>T uc004fjo.1 - 9 1221 c.1051C>A c.(1051-1053)CAA>AAA p.Q351K NM_002910 NP_002901 P51606 RENBP_HUMAN renin binding protein 351 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity ovary(1)|pancreas(1) 2 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) TCAGCCACTTGGTAGAAGAGG 0.607 NA 21 18 1.10513e-12 1.63842e-12 0.002299 1 0 OR2T3 343173 broad.mit.edu 37 1 248637461 248637461 + Frame_Shift_Del DEL C C - TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr1:248637461delC uc001iel.1 + 1 810 c.810delC c.(808-810)TACfs p.Y270fs NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 270 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CGAGTTCCTACCACACAGCTG 0.542 NA 102 275 --- --- --- --- NA NA NA NA NA UCN3 114131 broad.mit.edu 37 10 5416097 5416098 + Frame_Shift_Ins INS - - A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:5416097_5416098insA uc001ihx.1 + 2 638_639 c.414_415insA c.(412-417)GCCAAGfs p.A138fs NM_053049 NP_444277 Q969E3 UCN3_HUMAN urocortin 3 preproprotein 138_139 extracellular region hormone activity 0 TCAACATCGCCAAGGCCAAGAA 0.574 NA 16 43 --- --- --- --- NA NA NA NA NA HMX2 3167 broad.mit.edu 37 10 124909434 124909434 + Frame_Shift_Del DEL G G - TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr10:124909434delG uc001lhc.1 + 2 874 c.617delG c.(616-618)CGGfs p.R206fs NM_005519 NP_005510 A2RU54 HMX2_HUMAN H6 family homeobox 2 206 Homeobox. cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222) Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141) AAGTGGAAGCGGCAGCTCTCG 0.662 NA 5 9 --- --- --- --- NA NA NA NA NA RBMXL2 27288 broad.mit.edu 37 11 7110371 7110372 + Frame_Shift_Ins INS - - G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:7110371_7110372insG uc001mfc.2 + 1 207_208 c.20_21insG c.(19-21)CCGfs p.P7fs NM_014469 NP_055284 O75526 HNRGT_HUMAN testes-specific heterogenous nuclear 7 nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GCGGATCGCCCGGGGAAGCTGT 0.634 NA 8 25 --- --- --- --- NA NA NA NA NA CWF19L2 143884 broad.mit.edu 37 11 107224297 107224297 + Frame_Shift_Del DEL C C - TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:107224297delC uc010rvp.1 - 13 2068 c.2038delG c.(2038-2040)GACfs p.D680fs CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA NM_152434 NP_689647 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control 680 catalytic activity 0 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) TGAGAGCTGTCAAAACAATAC 0.363 NA 12 21 --- --- --- --- NA NA NA NA NA PHLDB1 23187 broad.mit.edu 37 11 118498054 118498054 + Frame_Shift_Del DEL C C - TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr11:118498054delC uc001ptr.1 + 7 868 c.515delC c.(514-516)ACCfs p.T172fs PHLDB1_uc010ryh.1_Frame_Shift_Del_p.T171fs|PHLDB1_uc001pts.2_Frame_Shift_Del_p.T172fs|PHLDB1_uc001ptt.2_Frame_Shift_Del_p.T172fs|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_5'UTR|PHLDB1_uc001ptw.1_5'Flank NM_015157 NP_055972 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, 172 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) GGGAACCACACCCCACAGACT 0.522 NA 20 40 --- --- --- --- NA NA NA NA NA SLC6A15 55117 broad.mit.edu 37 12 85279297 85279298 + Frame_Shift_Ins INS - - A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:85279297_85279298insA uc001szv.2 - 4 983_984 c.490_491insT c.(490-492)TGGfs p.W164fs SLC6A15_uc010sul.1_Frame_Shift_Ins_p.W57fs|SLC6A15_uc001szy.2_Frame_Shift_Ins_p.W164fs NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 164 Extracellular (Potential). cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity pancreas(2)|ovary(1) 3 AAACAAACTCCAGCCAATGATG 0.366 NA 11 44 --- --- --- --- NA NA NA NA NA MMP17 4326 broad.mit.edu 37 12 132335720 132335720 + Frame_Shift_Del DEL G G - TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr12:132335720delG uc001ujc.1 + 10 1812 c.1713delG c.(1711-1713)CCGfs p.P571fs MMP17_uc001ujd.1_Frame_Shift_Del_p.P487fs NM_016155 NP_057239 Q9ULZ9 MMP17_HUMAN matrix metalloproteinase 17 preproprotein 571 proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) CCTCTCCCCCGGGGGCCCCAG 0.706 NA 2 4 --- --- --- --- NA NA NA NA NA FLT1 2321 broad.mit.edu 37 13 28908231 28908231 + Frame_Shift_Del DEL C C - rs66533628 TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:28908231delC uc001usb.3 - 18 2809 c.2524delG c.(2524-2526)GTTfs p.V842fs FLT1_uc001usa.3_Frame_Shift_Del_p.V60fs NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 842 Cytoplasmic (Potential).|Protein kinase. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GATGCTTGAACCACTTTTCCA 0.433 NA 71 236 --- --- --- --- NA NA NA NA NA SLITRK1 114798 broad.mit.edu 37 13 84455198 84455198 + Frame_Shift_Del DEL C C - TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr13:84455198delC uc001vlk.2 - 1 1331 c.445delG c.(445-447)GCCfs p.A149fs NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 149 LRR 4.|Extracellular (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TCCTGGAAGGCCCCCGGGTCT 0.468 NA 21 62 --- --- --- --- NA NA NA NA NA ADAM21 8747 broad.mit.edu 37 14 70925698 70925698 + Frame_Shift_Del DEL C C - TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr14:70925698delC uc001xmd.2 + 1 1482 c.1482delC c.(1480-1482)ATCfs p.I494fs NM_003813 NP_003804 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 preproprotein 494 Cys-rich.|Extracellular (Potential). proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding pancreas(1)|skin(1) 2 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) AGGACGGGATCCCCTGTAGTG 0.448 NA 25 85 --- --- --- --- NA NA NA NA NA PELP1 27043 broad.mit.edu 37 17 4575456 4575456 + Frame_Shift_Del DEL C C - TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:4575456delC uc002fyi.3 - 16 3056 c.2830delG c.(2830-2832)GAAfs p.E944fs PELP1_uc010vsf.1_Frame_Shift_Del_p.E797fs NM_014389 NP_055204 Q8IZL8 PELP1_HUMAN proline, glutamic acid and leucine rich protein 944 Glu-rich. transcription, DNA-dependent cytoplasm|MLL1 complex protein binding ovary(1)|central_nervous_system(1) 2 tcttcttcttcctctaactca 0.179 NA 2 4 --- --- --- --- NA NA NA NA NA GAS2L2 246176 broad.mit.edu 37 17 34072570 34072570 + Frame_Shift_Del DEL C C - rs112674267 byFrequency TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:34072570delC uc002hjv.1 - 6 1974 c.1946delG c.(1945-1947)GGTfs p.G649fs NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 649 cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GTCATAAGGACCCCCAGGCTC 0.627 NA 39 83 --- --- --- --- NA NA NA NA NA KCNJ2 3759 broad.mit.edu 37 17 68171721 68171734 + Frame_Shift_Del DEL GCCAAGATGGCAAA GCCAAGATGGCAAA - TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 GCCAAGATGGCAAA GCCAAGATGGCAAA - - GCCAAGATGGCAAA GCCAAGATGGCAAA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr17:68171721_68171734delGCCAAGATGGCAAA uc010dfg.2 + 2 942_955 c.541_554delGCCAAGATGGCAAA c.(541-555)GCCAAGATGGCAAAGfs p.A181fs KCNJ2_uc002jir.2_Frame_Shift_Del_p.A181fs NM_000891 NP_000882 P63252 IRK2_HUMAN potassium inwardly-rectifying channel J2 181_185 Cytoplasmic (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding 0 Breast(10;1.64e-08) CGCAGTCATGGCCAAGATGGCAAAGCCAAAGAAG 0.5 NA 9 82 --- --- --- --- NA NA NA NA NA CA11 770 broad.mit.edu 37 19 49147712 49147712 + Frame_Shift_Del DEL G G - TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:49147712delG uc002pjz.1 - 3 819 c.257delC c.(256-258)CCAfs p.P86fs SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron NM_001217 NP_001208 O75493 CAH11_HUMAN carbonic anhydrase XI precursor 86 extracellular region 0 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016) GAGCCTTAATGGGGGCAGAAA 0.587 NA 24 32 --- --- --- --- NA NA NA NA NA KLK6 5653 broad.mit.edu 37 19 51465069 51465069 + Frame_Shift_Del DEL G G - TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr19:51465069delG uc002pui.2 - 6 773 c.513delC c.(511-513)GCCfs p.A171fs KLK6_uc010eoj.2_Intron|KLK6_uc002puh.2_Frame_Shift_Del_p.A180fs|KLK6_uc002puj.2_Frame_Shift_Del_p.A64fs|KLK6_uc010ycn.1_Frame_Shift_Del_p.A64fs|KLK6_uc002pul.2_Frame_Shift_Del_p.A171fs|KLK6_uc002pum.2_Frame_Shift_Del_p.A64fs NM_001012964 NP_001012982 Q92876 KLK6_HUMAN kallikrein-related peptidase 6 isoform A 171 Peptidase S1. amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus protein binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871) GGCCAGGGTAGGCATGCTCAC 0.552 NA 109 79 --- --- --- --- NA NA NA NA NA NT5C1B 93034 broad.mit.edu 37 2 18768815 18768816 + Frame_Shift_Ins INS - - G TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:18768815_18768816insG uc002rcz.2 - 2 177_178 c.73_74insC c.(73-75)GAAfs p.E25fs NT5C1B_uc002rcy.2_Frame_Shift_Ins_p.E25fs|NT5C1B_uc010exr.2_Frame_Shift_Ins_p.E25fs|NT5C1B_uc010yju.1_Frame_Shift_Ins_p.E25fs|NT5C1B_uc002rda.2_Frame_Shift_Ins_p.E25fs|NT5C1B_uc010yjv.1_Frame_Shift_Ins_p.E25fs|NT5C1B_uc010yjw.1_Frame_Shift_Ins_p.E25fs|NT5C1B_uc010exs.2_Frame_Shift_Ins_p.E25fs|NT5C1B_uc002rdb.1_5'Flank NM_001002006 NP_001002006 Q96P26 5NT1B_HUMAN 5' nucleotidase, cytosolic IB isoform 1 25 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding skin(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) CTTTCTTTTTTCTGCTTCTAGA 0.391 NA 40 105 --- --- --- --- NA NA NA NA NA PTPRN 5798 broad.mit.edu 37 2 220167204 220167204 + Frame_Shift_Del DEL G G - TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr2:220167204delG uc002vkz.2 - 6 738 c.649delC c.(649-651)CGTfs p.R217fs PTPRN_uc010zlc.1_Frame_Shift_Del_p.R127fs|PTPRN_uc002vla.2_Frame_Shift_Del_p.R217fs NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 217 Extracellular (Potential). response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GAGCCATCACGGGAGCCAAAC 0.617 NA 30 32 --- --- --- --- NA NA NA NA NA ANKRD5 63926 broad.mit.edu 37 20 10030742 10030742 + Frame_Shift_Del DEL A A - TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr20:10030742delA uc002wno.2 + 7 1918 c.1525delA c.(1525-1527)AAAfs p.K509fs uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Frame_Shift_Del_p.K509fs|ANKRD5_uc010gbz.2_Frame_Shift_Del_p.K320fs NM_022096 NP_071379 Q9NU02 ANKR5_HUMAN ankyrin repeat domain protein 5 509 calcium ion binding ovary(1)|breast(1) 2 GGCTTCTCTGAAAAAGGCCTT 0.393 NA 13 27 --- --- --- --- NA NA NA NA NA MPPED1 758 broad.mit.edu 37 22 43831041 43831042 + Frame_Shift_Ins INS - - A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr22:43831041_43831042insA uc011apv.1 + 3 535_536 c.312_313insA c.(310-315)CCCATCfs p.P104fs MPPED1_uc011apw.1_5'UTR|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Frame_Shift_Ins_p.P104fs|MPPED1_uc011apz.1_Frame_Shift_Ins_p.P137fs NM_001044370 NP_001037835 O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 104_105 hydrolase activity 0 all_neural(38;0.0244)|Ovarian(80;0.0694) GGACGGACCCCATCCAGATGCC 0.634 NA 34 134 --- --- --- --- NA NA NA NA NA SLC7A14 57709 broad.mit.edu 37 3 170198544 170198544 + Frame_Shift_Del DEL G G - TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr3:170198544delG uc003fgz.2 - 7 1843 c.1527delC c.(1525-1527)CCCfs p.P509fs CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 509 integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) TGCCGTAATTGGGGTGGTTGA 0.453 NA 48 176 --- --- --- --- NA NA NA NA NA KCTD8 386617 broad.mit.edu 37 4 44176951 44176951 + Frame_Shift_Del DEL G G - TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:44176951delG uc003gwu.2 - 2 1562 c.1278delC c.(1276-1278)TCCfs p.S426fs NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 426 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 CTTTCTTTTTGGACAGATTTG 0.403 NA HNSCC(17;0.042) 36 151 --- --- --- --- NA NA NA NA NA FBXW7 55294 broad.mit.edu 37 4 153259062 153259062 + Frame_Shift_Del DEL A A - TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr4:153259062delA uc003ims.2 - 5 902 c.753delT c.(751-753)CTTfs p.L251fs FBXW7_uc011cii.1_Frame_Shift_Del_p.L251fs|FBXW7_uc003imt.2_Frame_Shift_Del_p.L251fs|FBXW7_uc011cih.1_Frame_Shift_Del_p.L75fs|FBXW7_uc003imq.2_Frame_Shift_Del_p.L171fs|FBXW7_uc003imr.2_Frame_Shift_Del_p.L133fs NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 251 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) CATCTAAAGCAAGCAATTTCT 0.358 NA Mis|N|D|F colorectal|endometrial|T-ALL 11 44 --- --- --- --- NA NA NA NA NA ZFP57 346171 broad.mit.edu 37 6 29640370 29640370 + Frame_Shift_Del DEL G G - TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:29640370delG uc011dlw.1 - 4 1669 c.1518delC c.(1516-1518)CCCfs p.P506fs ZFP57_uc003nnl.3_Frame_Shift_Del_p.P486fs NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN zinc finger protein 57 homolog 422 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding ovary(3)|skin(2) 5 TATGGATCCTGGGGGGAGATT 0.517 NA 10 38 --- --- --- --- NA NA NA NA NA DNAH8 1769 broad.mit.edu 37 6 38771088 38771089 + Splice_Site INS - - T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:38771088_38771089insT uc003ooe.1 + 20 2983 c.2383_splice c.e20+1 p.E795_splice NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 AAACAGTCAGGTAACTTTTCTC 0.262 NA 15 59 --- --- --- --- NA NA NA NA NA LPA 4018 broad.mit.edu 37 6 161020604 161020604 + Frame_Shift_Del DEL C C - TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr6:161020604delC uc003qtl.2 - 21 3335 c.3215delG c.(3214-3216)GGAfs p.G1072fs NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3580 Kringle 32. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GCAAGTTCTTCCTGTGACAGT 0.483 NA 82 329 --- --- --- --- NA NA NA NA NA CROT 54677 broad.mit.edu 37 7 87022321 87022321 + Frame_Shift_Del DEL G G - TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr7:87022321delG uc003uit.2 + 17 1901 c.1656delG c.(1654-1656)CAGfs p.Q552fs CROT_uc003uiu.2_Frame_Shift_Del_p.Q580fs NM_021151 NP_066974 Q9UKG9 OCTC_HUMAN peroxisomal carnitine O-octanoyltransferase 552 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity ovary(2)|lung(1) 3 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) TACGAGTCCAGGGAGTGGTAG 0.418 NA 45 121 --- --- --- --- NA NA NA NA NA CSMD3 114788 broad.mit.edu 37 8 113697737 113697737 + Frame_Shift_Del DEL C C - TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0dbafe19-dd11-4a91-b946-ebd346121b64 643450d7-0116-4289-a05d-ab41e2d3f5fb g.chr8:113697737delC uc003ynu.2 - 15 2539 c.2380delG c.(2380-2382)GCTfs p.A794fs CSMD3_uc003yns.2_Frame_Shift_Del_p.A66fs|CSMD3_uc003ynt.2_Frame_Shift_Del_p.A754fs|CSMD3_uc011lhx.1_Frame_Shift_Del_p.A690fs NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 794 Extracellular (Potential).|CUB 4. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GGCACCTCAGCCCCAGTAAAG 0.433 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 22 91 --- --- --- --- NA NA NA NA NA