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 MMEL1 79258 broad.mit.edu 37 1 2537763 2537763 + Nonsense_Mutation SNP G G C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:2537763G>C uc001ajy.2 - 8 888 c.674C>G c.(673-675)TCA>TGA p.S225* MMEL1_uc009vlg.1_RNA NM_033467 NP_258428 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 225 Lumenal (Potential). proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity 0 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) GTTGAACTGTGAGTTCATCAG 0.672 NA 3 29 0 0 0.004672 0 0 H6PD 9563 broad.mit.edu 37 1 9323676 9323676 + Missense_Mutation SNP A A T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:9323676A>T uc001apt.2 + 5 1397 c.1124A>T c.(1123-1125)AAC>ATC p.N375I NM_004285 NP_004276 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase precursor 375 Glucose 1-dehydrogenase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding 0 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) TTGTTCAAGAACCAGGCCTGC 0.622 NA 17 46 0 0 0.004007 0 0 CASZ1 54897 broad.mit.edu 37 1 10703261 10703261 + Missense_Mutation SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:10703261G>A uc001aro.2 - 19 4296 c.3976C>T c.(3976-3978)CGG>TGG p.R1326W NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 1326 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) AGCATCCTCCGCATGTGCTTC 0.647 NA 12 43 0 0 0.016723 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854181 12854181 + Silent SNP A A G TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:12854181A>G uc001auj.1 + 3 508 c.405A>G c.(403-405)GCA>GCG p.A135A NM_023013 NP_075389 O95521 PRAM1_HUMAN PRAME family member 1 135 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGCAGACAGCAGAGGACTGTC 0.547 NA 38 165 0 0 0.006999 0 0 LOC440563 440563 broad.mit.edu 37 1 13183250 13183250 + Missense_Mutation SNP T T C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:13183250T>C uc010obg.1 - 1 718 c.623A>G c.(622-624)CAG>CGG p.Q208R NM_001136561 NP_001130033 B2RXH8 B2RXH8_HUMAN heterogeneous nuclear ribonucleoprotein C-like 208 ribonucleoprotein complex nucleic acid binding|nucleotide binding 0 TTGTTTGCTCTGTTCCTTTTC 0.428 NA 9 244 0 0 0.006214 0 0 HTR1D 3352 broad.mit.edu 37 1 23520467 23520467 + Silent SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:23520467G>T uc001bgn.2 - 1 756 c.246C>A c.(244-246)ACC>ACA p.T82T NM_000864 NP_000855 P28221 5HT1D_HUMAN 5-hydroxytryptamine (serotonin) receptor 1D 82 Helical; Name=2; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity 0 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) AGAGGTCGGTGGTGGCCAGGG 0.537 NA 17 87 1.01871e-10 1.4553e-10 0.008871 1 0 IL28RA 163702 broad.mit.edu 37 1 24484070 24484070 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:24484070C>A uc001bis.2 - 7 1126 c.1113G>T c.(1111-1113)AGG>AGT p.R371S IL28RA_uc001bir.2_Missense_Mutation_p.R342S|IL28RA_uc001bit.2_3'UTR|IL28RA_uc001biu.2_Missense_Mutation_p.R287S NM_170743 NP_734464 Q8IU57 I28RA_HUMAN interleukin 28 receptor, alpha isoform 1 371 Cytoplasmic (Potential). cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host interleukin-28 receptor complex protein binding|receptor activity 0 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185) CCAGAGGAGCCCTGGGCCTCC 0.627 NA 8 33 7.48243e-07 9.43437e-07 0.006214 1 0 ARID1A 8289 broad.mit.edu 37 1 27105723 27105723 + Silent SNP A A G TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:27105723A>G uc001bmv.1 + 20 5707 c.5334A>G c.(5332-5334)GAA>GAG p.E1778E ARID1A_uc001bmu.1_Silent_p.E1561E|ARID1A_uc001bmx.1_Silent_p.E624E|ARID1A_uc009vsm.1_Silent_p.E106E|ARID1A_uc009vsn.1_Silent_p.E20E NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1778 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AGGAAGAAGAAGAGGAAGTAG 0.468 NA Mis|N|F|S|D clear cell ovarian carcinoma|RCC 6 58 0 0 0.001984 0 0 ARID1A 8289 broad.mit.edu 37 1 27106483 27106483 + Missense_Mutation SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:27106483G>A uc001bmv.1 + 20 6467 c.6094G>A c.(6094-6096)GAA>AAA p.E2032K ARID1A_uc001bmu.1_Missense_Mutation_p.E1815K|ARID1A_uc001bmx.1_Missense_Mutation_p.E878K|ARID1A_uc009vsm.1_Missense_Mutation_p.E360K|ARID1A_uc009vsn.1_Missense_Mutation_p.E274K NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 2032 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) ACTAACTTATGAAAAGGAGGA 0.552 NA Mis|N|F|S|D clear cell ovarian carcinoma|RCC 4 48 0 0 0.009096 0 0 ARID1A 8289 broad.mit.edu 37 1 27106495 27106495 + Nonsense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:27106495G>T uc001bmv.1 + 20 6479 c.6106G>T c.(6106-6108)GAA>TAA p.E2036* ARID1A_uc001bmu.1_Nonsense_Mutation_p.E1819*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.E882*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.E364*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.E278* NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 2036 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AAAGGAGGAGGAACAGGACCA 0.562 NA Mis|N|F|S|D clear cell ovarian carcinoma|RCC 4 52 0.00024832 0.000283515 0.009096 1 0 COL16A1 1307 broad.mit.edu 37 1 32145269 32145269 + Silent SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:32145269G>T uc001btk.1 - 42 3101 c.2736C>A c.(2734-2736)CCC>CCA p.P912P COL16A1_uc001btj.1_Silent_p.P725P|COL16A1_uc001btl.3_Silent_p.P896P NM_001856 NP_001847 Q07092 COGA1_HUMAN alpha 1 type XVI collagen precursor 912 Triple-helical region 4 (COL4) with 2 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity ovary(8) 8 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) CTGGTGGTCCGGGAATACCTG 0.617 Colon(143;498 1786 21362 25193 36625) NA 7 116 5.18039e-06 6.39282e-06 0.00308 1 0 CSMD2 114784 broad.mit.edu 37 1 34209109 34209109 + Silent SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:34209109G>A uc001bxn.1 - 14 1854 c.1825C>T c.(1825-1827)CTG>TTG p.L609L CSMD2_uc001bxm.1_Silent_p.L649L NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 609 Extracellular (Potential).|CUB 4. integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGCCTGGCCAGGATGAGCCAG 0.587 NA 13 52 0 0 0.016723 0 0 GADD45A 1647 broad.mit.edu 37 1 68153432 68153432 + Missense_Mutation SNP C C T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:68153432C>T uc001ddz.1 + 4 768 c.473C>T c.(472-474)CCA>CTA p.P158L GADD45A_uc009wbb.1_Missense_Mutation_p.P124L|GADD45A_uc009wbc.1_RNA|GADD45A_uc009wbd.1_RNA NM_001924 NP_001915 P24522 GA45A_HUMAN growth arrest and DNA-damage-inducible, alpha 158 apoptosis|cell cycle arrest|cellular response to ionizing radiation|cellular response to mechanical stimulus|DNA repair|positive regulation of reactive oxygen species metabolic process|regulation of cyclin-dependent protein kinase activity|signal transduction in response to DNA damage nucleus protein binding ovary(1) 1 CAATGGGTTCCAGTGATTAAT 0.388 NA 8 77 0 0 0.00308 0 0 MSH4 4438 broad.mit.edu 37 1 76345780 76345780 + Missense_Mutation SNP A A G TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:76345780A>G uc001dhd.1 + 13 1764 c.1723A>G c.(1723-1725)ATT>GTT p.I575V NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 575 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 AGCAGATTTAATTAAAATGAA 0.274 NA MMR 11 39 0 0 0.003163 0 0 COL24A1 255631 broad.mit.edu 37 1 86581035 86581035 + Silent SNP T T C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:86581035T>C uc001dlj.2 - 4 1560 c.1518A>G c.(1516-1518)CCA>CCG p.P506P COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Silent_p.P506P NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 506 Collagen-like 1. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) CTGACGGACCTGGGATACCTG 0.418 NA 7 29 0 0 0.00308 0 0 GBP5 115362 broad.mit.edu 37 1 89735197 89735197 + Silent SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:89735197G>A uc001dnc.2 - 3 579 c.42C>T c.(40-42)ATC>ATT p.I14I GBP5_uc001dnd.2_Silent_p.I14I|GBP5_uc001dne.1_Silent_p.I14I NM_052942 NP_443174 Q96PP8 GBP5_HUMAN guanylate-binding protein 5 14 plasma membrane GTP binding|GTPase activity ovary(1) 1 all cancers(265;0.00784)|Epithelial(280;0.0286) TAAAGTTCTCGATGAGGCACA 0.478 NA 8 202 0 0 0.004482 0 0 TMEM56 148534 broad.mit.edu 37 1 95615767 95615767 + Silent SNP T T G TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:95615767T>G uc001drb.2 + 4 540 c.249T>G c.(247-249)GGT>GGG p.G83G RWDD3_uc001drd.3_Silent_p.G83G|TMEM56_uc001drc.2_Silent_p.G83G NM_152487 NP_689700 Q96MV1 TMM56_HUMAN transmembrane protein 56 83 TLC. integral to membrane 0 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.133) TTTTCAGGGGTGGTCCATCAC 0.323 NA 5 45 0 0 0.014323 0 0 LPPR4 9890 broad.mit.edu 37 1 99771298 99771298 + Missense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:99771298G>T uc001dse.2 + 7 1130 c.1024G>T c.(1024-1026)GAC>TAC p.D342Y LPPR4_uc010oue.1_Missense_Mutation_p.D284Y NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 342 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) TCAGCACAGAGACGCCCTCAG 0.448 NA 42 97 1.22674e-20 1.93345e-20 0.00874 1 0 CD101 9398 broad.mit.edu 37 1 117559956 117559957 + Missense_Mutation DNP GG GG TT TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:117559956_117559957GG>TT uc010oxb.1 + 5 1531_1532 c.1473_1474GG>TT c.(1471-1476)TGGGCC>TGTTCC p.491_492WA>CS CD101_uc009whd.2_Missense_Mutation_p.491_492WA>CS|CD101_uc010oxc.1_Missense_Mutation_p.491_492WA>CS|CD101_uc010oxd.1_Missense_Mutation_p.429_430WA>CS NM_004258 NP_004249 Q93033 IGSF2_HUMAN immunoglobulin superfamily, member 2 precursor 491_492 Extracellular (Potential).|Ig-like C2-type 4. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 AAATGGACTGGGCCACCTTCCA 0.55 NA 20 84 0 0 0.004672 0 0 WDR3 10885 broad.mit.edu 37 1 118494942 118494942 + Missense_Mutation SNP C C T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:118494942C>T uc010oxe.1 + 18 1993 c.1927C>T c.(1927-1929)CCC>TCC p.P643S WDR3_uc001ehi.2_Intron NM_006784 NP_006775 Q9UNX4 WDR3_HUMAN WD repeat-containing protein 3 643 WD 12. nuclear membrane|nucleolus upper_aerodigestive_tract(1) 1 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) ACAGTTTGTACCCAAGTCTCA 0.363 NA 16 78 0 0 0.00499 0 0 FLG 2312 broad.mit.edu 37 1 152279939 152279939 + Nonsense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:152279939C>A uc001ezu.1 - 3 7459 c.7423G>T c.(7423-7425)GGA>TGA p.G2475* NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2475 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TAGTGGGATCCCTGCCTTCCT 0.582 NA Ichthyosis 209 331 7.99439e-90 1.3401e-89 0.01441 1 0 KPRP 448834 broad.mit.edu 37 1 152732100 152732100 + Silent SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:152732100G>T uc001fal.1 + 2 94 c.36G>T c.(34-36)CCG>CCT p.P12P NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 12 Gln-rich. cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCCGCCTGCCGCTCCAACAGT 0.582 NA 37 55 1.04594e-18 1.61342e-18 0.00623 1 0 KIAA0907 22889 broad.mit.edu 37 1 155895471 155895471 + Missense_Mutation SNP T T G TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:155895471T>G uc001fmi.1 - 7 869 c.845A>C c.(844-846)GAG>GCG p.E282A KIAA0907_uc001fmj.1_Missense_Mutation_p.E282A|KIAA0907_uc009wrk.1_Intron|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Missense_Mutation_p.E282A|KIAA0907_uc001fmm.2_3'UTR NM_014949 NP_055764 Q7Z7F0 K0907_HUMAN hypothetical protein LOC22889 282 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) AGATGCTGGCTCAATGCAGCC 0.483 NA 5 120 0 0 0.001168 0 0 ADCY10 55811 broad.mit.edu 37 1 167787447 167787447 + Missense_Mutation SNP G G C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:167787447G>C uc001ger.2 - 31 4643 c.4345C>G c.(4345-4347)CTT>GTT p.L1449V ADCY10_uc009wvj.2_RNA|ADCY10_uc009wvk.2_Missense_Mutation_p.L1357V|ADCY10_uc010plj.1_Missense_Mutation_p.L1296V NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 1449 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 CTTGGCAAAAGATTTTTAGCT 0.373 NA 5 109 0 0 0.014758 0 0 BAT2L2 23215 broad.mit.edu 37 1 171511222 171511222 + Missense_Mutation SNP A A T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:171511222A>T uc010pmg.1 + 16 4877 c.4611A>T c.(4609-4611)GAA>GAT p.E1537D BAT2L2_uc010pmh.1_Missense_Mutation_p.E514D NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 1537 protein C-terminus binding 0 CAAAGAGGGAAATTGCAAAGA 0.418 NA 32 30 0 0 0.008361 0 0 TNR 7143 broad.mit.edu 37 1 175362997 175362997 + Silent SNP C C T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:175362997C>T uc001gkp.1 - 4 1356 c.1275G>A c.(1273-1275)ACG>ACA p.T425T TNR_uc009wwu.1_Silent_p.T425T|TNR_uc010pmz.1_3'UTR NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 425 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) TCTCTGTGATCGTCTTAAATT 0.498 NA 16 200 0 0 0.004007 0 0 FAM5B 57795 broad.mit.edu 37 1 177199216 177199216 + Silent SNP T T C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:177199216T>C uc001glf.2 + 2 516 c.204T>C c.(202-204)GCT>GCC p.A68A NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 68 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 TCCACCGCGCTCAGGAGTATG 0.642 NA 13 127 0 0 0.003163 0 0 CACNA1E 777 broad.mit.edu 37 1 181753820 181753820 + Missense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:181753820G>T uc001gow.2 + 41 5659 c.5494G>T c.(5494-5496)GAC>TAC p.D1832Y CACNA1E_uc009wxs.2_Missense_Mutation_p.D1720Y|CACNA1E_uc009wxt.2_Missense_Mutation_p.D1058Y NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1832 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 GCAGCAGCTAGACTCAGAGCT 0.483 NA 3 6 0.004672 0.00503673 0.004672 1 0 HMCN1 83872 broad.mit.edu 37 1 186056670 186056670 + Missense_Mutation SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:186056670G>A uc001grq.1 + 60 9485 c.9256G>A c.(9256-9258)GTG>ATG p.V3086M NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3086 Ig-like C2-type 29. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GTCGAACGCTGTGCCACCTCC 0.438 NA 12 176 0 0 0.010729 0 0 CACNA1S 779 broad.mit.edu 37 1 201044651 201044651 + Silent SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:201044651G>A uc001gvv.2 - 13 2147 c.1920C>T c.(1918-1920)TAC>TAT p.Y640Y NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 640 Helical; Name=S6 of repeat II; (Potential).|II. axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GGATGATGAAGTAAATGCACA 0.542 NA 26 181 0 0 0.010818 0 0 ATP2B4 493 broad.mit.edu 37 1 203652429 203652429 + Silent SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:203652429C>A uc001gzw.2 + 2 980 c.96C>A c.(94-96)CTC>CTA p.L32L ATP2B4_uc001gzv.2_Silent_p.L32L|ATP2B4_uc009xaq.2_Silent_p.L32L NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 32 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) TGAGGAAGCTCATGGAGCTGC 0.522 NA 73 116 3.78398e-24 6.06274e-24 0.01441 1 0 ZNF678 339500 broad.mit.edu 37 1 227843217 227843217 + Silent SNP C C T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:227843217C>T uc001hqw.1 + 4 1611 c.1266C>T c.(1264-1266)AGC>AGT p.S422S ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron NM_178549 NP_848644 F5GXA7 F5GXA7_HUMAN zinc finger protein 678 477 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding pancreas(1) 1 Prostate(94;0.0885) ACCTAACTAGCCATAAGAGAA 0.368 NA 5 58 0 0 0.014758 0 0 KIAA1383 54627 broad.mit.edu 37 1 232941882 232941882 + Missense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:232941882G>T uc001hvh.2 + 1 1245 c.1113G>T c.(1111-1113)GAG>GAT p.E371D NM_019090 NP_061963 Q9P2G4 K1383_HUMAN hypothetical protein LOC54627 229 ovary(1) 1 all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169) GCCCAAAAGAGGCTGATAAGC 0.542 NA 12 149 0.00010058 0.00011857 0.013537 1 0 FMN2 56776 broad.mit.edu 37 1 240370635 240370635 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:240370635C>A uc010pyd.1 + 5 2748 c.2523C>A c.(2521-2523)CAC>CAA p.H841Q FMN2_uc010pye.1_Missense_Mutation_p.H845Q NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 841 Pro-rich.|FH1. 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) AAACCAGCCACGAACACTCTG 0.562 NA 7 74 5.18039e-06 6.39282e-06 0.00308 1 0 OR2M3 127062 broad.mit.edu 37 1 248366864 248366864 + Silent SNP C C T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:248366864C>T uc010pzg.1 + 1 495 c.495C>T c.(493-495)TCC>TCT p.S165S NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 165 Extracellular (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) CAACATTTTCCTTCTCCTACT 0.438 NA 17 325 0 0 0.004007 0 0 OR2M4 26245 broad.mit.edu 37 1 248402835 248402835 + Missense_Mutation SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:248402835G>A uc010pzh.1 + 1 605 c.605G>A c.(604-606)TGT>TAT p.C202Y NM_017504 NP_059974 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, 202 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2) 2 all_cancers(71;0.000124)|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;0.0245) CTTGTCATTTGTTGTGTGGTA 0.438 NA 76 83 0 0 0.01441 0 0 ITGA8 8516 broad.mit.edu 37 10 15688901 15688902 + Missense_Mutation DNP CC CC AA TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr10:15688901_15688902CC>AA uc001ioc.1 - 12 1150_1151 c.1150_1151GG>TT c.(1150-1152)GGG>TTG p.G384L ITGA8_uc010qcb.1_Missense_Mutation_p.G369L NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 384 Extracellular (Potential).|FG-GAP 6. cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 ACCGAATCTCCCAAACGTCTCG 0.48 NA 18 40 0 0 0.004672 0 0 CH25H 9023 broad.mit.edu 37 10 90966547 90966547 + Missense_Mutation SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr10:90966547G>A uc001kfz.2 - 1 525 c.503C>T c.(502-504)GCG>GTG p.A168V NM_003956 NP_003947 O95992 CH25H_HUMAN cholesterol 25-hydroxylase 168 bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process cytosol|endoplasmic reticulum membrane|integral to membrane cholesterol 25-hydroxylase activity|iron ion binding 0 Colorectal(252;0.0161) GBM - Glioblastoma multiforme(2;0.000133) CGTTGCCAGCGCGAACGAGGA 0.577 NA 5 89 0 0 0.014758 0 0 PIPSL 266971 broad.mit.edu 37 10 95720326 95720326 + Silent SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr10:95720326G>T uc009xuj.2 - 1 1347 c.828C>A c.(826-828)ATC>ATA p.I276I NR_002319 RecName: Full=Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha; Short=PtdIns(4)P-5-kinase alpha; Short=PIP5KIalpha; EC=2.7.1.68; AltName: Full=Phosphatidylinositol-4-phosphate 5-kinase type I alpha; AltName: Full=68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha; 0 CTATATTATGGATTGACATCA 0.473 NA 8 67 7.48243e-07 9.43437e-07 0.006214 1 0 ENTPD7 57089 broad.mit.edu 37 10 101458381 101458381 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr10:101458381C>A uc001kqa.3 + 10 1279 c.1101C>A c.(1099-1101)AAC>AAA p.N367K ENTPD7_uc009xwl.2_Missense_Mutation_p.N369K NM_020354 NP_065087 Q9NQZ7 ENTP7_HUMAN ectonucleoside triphosphate diphosphohydrolase 367 Vesicular (Potential). cytoplasmic vesicle membrane|integral to membrane hydrolase activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.75e-08) TGGAGAGGAACAGCCAAGTCT 0.567 NA 6 46 0.00116845 0.00128352 0.001168 1 0 SORCS3 22986 broad.mit.edu 37 10 106907469 106907469 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr10:106907469C>A uc001kyi.1 + 9 1624 c.1397C>A c.(1396-1398)ACG>AAG p.T466K NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 466 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) ATCTCAGACACGCGTGGGATT 0.448 NSCLC(116;1497 1690 7108 13108 14106) NA 10 46 4.68919e-08 6.20943e-08 0.008291 1 0 ATRNL1 26033 broad.mit.edu 37 10 116889227 116889227 + Silent SNP C C T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr10:116889227C>T uc001lcg.2 + 5 1145 c.759C>T c.(757-759)TGC>TGT p.C253C ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Silent_p.C253C|ATRNL1_uc009xyq.2_Silent_p.C253C NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 253 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) AAGCCAATTGCGGCAGTCCAG 0.413 NA 17 43 0 0 0.004007 0 0 Unknown 0 broad.mit.edu 37 10 134660763 134660763 + Silent SNP T T A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr10:134660763T>A uc010qux.1 - 34 5193 c.5193A>T c.(5191-5193)ACA>ACT p.T1731T NM_017609 NP_060079 Homo sapiens cDNA, FLJ17989. NA TGCTGGACTTTGTGGCACCCT 0.657 NA 23 61 0 0 0.01892 0 0 LSP1 4046 broad.mit.edu 37 11 1905191 1905191 + Silent SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr11:1905191C>A uc001lui.2 + 5 703 c.528C>A c.(526-528)CCC>CCA p.P176P LSP1_uc001luj.2_Silent_p.P304P|LSP1_uc001luk.2_Silent_p.P114P|LSP1_uc001lul.2_Silent_p.P114P|LSP1_uc001lum.2_Silent_p.P114P NM_002339 NP_002330 P33241 LSP1_HUMAN lymphocyte-specific protein 1 isoform 1 176 cellular component movement|cellular defense response actin cytoskeleton|Golgi apparatus|plasma membrane actin binding|signal transducer activity large_intestine(1) 1 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856) CCAGGACACCCAGCCCCTTGG 0.572 NA 23 106 1.85244e-09 2.5221e-09 0.01892 1 0 TNNT3 7140 broad.mit.edu 37 11 1955213 1955213 + Missense_Mutation SNP A A T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr11:1955213A>T uc001luu.3 + 11 553 c.341A>T c.(340-342)GAG>GTG p.E114V TNNT3_uc001lun.2_Intron|TNNT3_uc001luw.3_Missense_Mutation_p.E106V|TNNT3_uc001luo.3_Missense_Mutation_p.E106V|TNNT3_uc001lup.3_Missense_Mutation_p.E112V|TNNT3_uc001luq.3_Missense_Mutation_p.E106V|TNNT3_uc001lur.2_Missense_Mutation_p.E106V|TNNT3_uc010qxf.1_Missense_Mutation_p.E112V|TNNT3_uc010qxg.1_Missense_Mutation_p.E46V NM_006757 NP_006748 P45378 TNNT3_HUMAN troponin T3, skeletal, fast isoform 1 125 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding ovary(1) 1 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) GCAGAGAAGGAGAGGGAGCGC 0.652 NA 5 23 0 0 0.001168 0 0 TRIM22 10346 broad.mit.edu 37 11 5730336 5730336 + Missense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr11:5730336G>T uc001mbr.2 + 8 1232 c.955G>T c.(955-957)GAT>TAT p.D319Y TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.2_Missense_Mutation_p.D315Y|TRIM22_uc010qzm.1_Missense_Mutation_p.D147Y|TRIM22_uc009yeu.2_Missense_Mutation_p.D130Y|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron NM_006074 NP_006065 Q8IYM9 TRI22_HUMAN tripartite motif-containing 22 319 B30.2/SPRY. immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding 0 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) TATTTCTGTGGATCAGAGACA 0.418 GBM(104;491 2336 5222) NA 13 95 5.50884e-06 6.74077e-06 0.013537 1 0 PARVA 55742 broad.mit.edu 37 11 12539189 12539190 + Missense_Mutation DNP GG GG TT TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr11:12539189_12539190GG>TT uc001mki.2 + 11 949_950 c.900_901GG>TT c.(898-903)ATGGGG>ATTTGG p.300_301MG>IW NM_018222 NP_060692 Q9NVD7 PARVA_HUMAN parvin, alpha 300_301 CH 2. cell adhesion|cell junction assembly|cilium morphogenesis actin cytoskeleton|cytosol|focal adhesion actin binding breast(3) 3 Epithelial(150;0.00624) TGCTGCTCATGGGGCTCCTGGA 0.614 NA 5 3 0 0 0.004672 0 0 LUZP2 338645 broad.mit.edu 37 11 25098931 25098931 + Silent SNP A A C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr11:25098931A>C uc001mqs.2 + 11 1149 c.915A>C c.(913-915)GCA>GCC p.A305A LUZP2_uc009yif.2_Silent_p.A219A|LUZP2_uc009yig.2_Silent_p.A263A NM_001009909 NP_001009909 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 precursor 305 extracellular region ovary(1)|skin(1) 2 ATGCCACTGCAGAAACCGAGC 0.338 NA 22 69 0 0 0.004656 0 0 ELP4 26610 broad.mit.edu 37 11 31648724 31648724 + Missense_Mutation SNP G G C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr11:31648724G>C uc001mtb.2 + 6 756 c.721G>C c.(721-723)GAT>CAT p.D241H ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Missense_Mutation_p.D241H|ELP4_uc010rdz.1_Missense_Mutation_p.D242H NM_019040 NP_061913 Q96EB1 ELP4_HUMAN elongation protein 4 homolog 241 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) GGAAGGATTTGATGGATCCAA 0.378 NA 3 80 0 0 0.004672 0 0 CCDC73 493860 broad.mit.edu 37 11 32636029 32636029 + Missense_Mutation SNP T T C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr11:32636029T>C uc001mtv.2 - 16 1879 c.1835A>G c.(1834-1836)GAA>GGA p.E612G NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN sarcoma antigen NY-SAR-79 612 ovary(1)|central_nervous_system(1) 2 Breast(20;0.112) TAGAGCATGTTCTCGAGTCCC 0.333 NA 11 31 0 0 0.010729 0 0 OR8H2 390151 broad.mit.edu 37 11 55872950 55872950 + Silent SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr11:55872950C>A uc010riy.1 + 1 432 c.432C>A c.(430-432)CTC>CTA p.L144L NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 144 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) GCCTCGCTCTCATCACTGGGC 0.443 NA HNSCC(53;0.14) 7 196 1.06961e-07 1.40356e-07 0.00308 1 0 OR5T2 219464 broad.mit.edu 37 11 56000426 56000426 + Missense_Mutation SNP A A C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr11:56000426A>C uc010rjc.1 - 1 236 c.236T>G c.(235-237)ATG>AGG p.M79R NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 79 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) TAAATTTCCCATGAGAGTGAA 0.408 NA 11 69 0 0 0.010729 0 0 CPT1A 1374 broad.mit.edu 37 11 68530172 68530172 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr11:68530172C>A uc001oog.3 - 15 1968 c.1798G>T c.(1798-1800)GGG>TGG p.G600W CPT1A_uc001oof.3_Missense_Mutation_p.G600W|CPT1A_uc009ysj.2_Intron NM_001876 NP_001867 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A liver isoform 600 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity skin(2) 2 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) TCCGTCCTCCCCTCTCGGAAG 0.612 NA 11 27 0.000978159 0.00109524 0.010729 1 0 FGF4 2249 broad.mit.edu 37 11 69588893 69588893 + Missense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr11:69588893G>T uc001opg.1 - 2 662 c.343C>A c.(343-345)CTG>ATG p.L115M FGF4_uc010rqj.1_Intron NM_002007 NP_001998 P08620 FGF4_HUMAN fibroblast growth factor 4 precursor 115 cell-cell signaling|chondroblast differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade extracellular region growth factor activity|heparin binding 0 Melanoma(5;1.89e-05) LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278) Pentosan Polysulfate(DB00686) AGCTCCAGCAGGCCTGGGGGC 0.692 NA 4 8 0.00024832 0.000283515 0.009096 1 0 MOGAT2 80168 broad.mit.edu 37 11 75431194 75431194 + Missense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr11:75431194G>T uc010rru.1 + 2 249 c.249G>T c.(247-249)ATG>ATT p.M83I MOGAT2_uc001oww.1_Missense_Mutation_p.M83I|MOGAT2_uc010rrv.1_Missense_Mutation_p.M1I NM_025098 NP_079374 Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 83 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity ovary(2) 2 Ovarian(111;0.103) GGAAGTACATGAAGGACTATT 0.602 NA 7 187 0.000157383 0.000181837 0.00308 1 0 TMEM135 65084 broad.mit.edu 37 11 87013423 87013423 + Missense_Mutation SNP C C T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr11:87013423C>T uc001pch.2 + 8 660 c.637C>T c.(637-639)CAT>TAT p.H213Y TMEM135_uc010rtt.1_Missense_Mutation_p.H74Y|TMEM135_uc001pci.2_Missense_Mutation_p.H191Y NM_022918 NP_075069 Q86UB9 TM135_HUMAN transmembrane protein 135 213 integral to membrane 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GAGAGAGCAACATGAGGAAAA 0.383 NA 16 99 0 0 0.003163 0 0 CNTN5 53942 broad.mit.edu 37 11 100170106 100170106 + Silent SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr11:100170106G>A uc001pga.2 + 20 2937 c.2598G>A c.(2596-2598)GTG>GTA p.V866V CNTN5_uc001pfz.2_Silent_p.V866V|CNTN5_uc001pgb.2_Silent_p.V792V|CNTN5_uc010ruk.1_Silent_p.V137V NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 866 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GTCAAATTGTGGTCATCTGTT 0.328 NA 23 43 0 0 0.021523 0 0 MMP3 4314 broad.mit.edu 37 11 102709383 102709383 + Silent SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr11:102709383G>A uc001phj.1 - 8 1193 c.1128C>T c.(1126-1128)ATC>ATT p.I376I NM_002422 NP_002413 P08254 MMP3_HUMAN matrix metalloproteinase 3 preproprotein 376 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) CTAGGGTGTGGATGCCTCTTG 0.383 NA 12 72 0 0 0.013537 0 0 C11orf88 399949 broad.mit.edu 37 11 111385678 111385678 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr11:111385678C>A uc001pln.3 + 1 169 c.169C>A c.(169-171)CGC>AGC p.R57S BTG4_uc001plj.2_5'Flank|BTG4_uc001plk.2_5'Flank|C11orf88_uc009yyd.2_Missense_Mutation_p.R57S|C11orf88_uc001plo.1_Missense_Mutation_p.R57S NM_001100388 NP_001093858 Q6PI97 CK088_HUMAN hypothetical protein LOC399949 isoform 2 57 0 GCTGGTGCTGCGCAGAGACAG 0.587 NA OREG0021329 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 45 0.00621372 0.00667399 0.006214 1 0 ALG10 84920 broad.mit.edu 37 12 34179553 34179553 + Silent SNP A A T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr12:34179553A>T uc001rlm.2 + 3 1444 c.1125A>T c.(1123-1125)CCA>CCT p.P375P NM_032834 NP_116223 Q5BKT4 AG10A_HUMAN asparagine-linked glycosylation 10 homolog 375 Helical; (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity skin(1) 1 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) TGTTAGTTCCAGCCTATATAT 0.299 NA 34 88 0 0 0.013726 0 0 NELL2 4753 broad.mit.edu 37 12 45059372 45059372 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr12:45059372C>A uc001rog.2 - 13 1934 c.1339G>T c.(1339-1341)GGG>TGG p.G447W NELL2_uc001rof.3_Missense_Mutation_p.G446W|NELL2_uc001roh.2_Missense_Mutation_p.G447W|NELL2_uc009zkd.2_Missense_Mutation_p.G446W|NELL2_uc010skz.1_Missense_Mutation_p.G497W|NELL2_uc010sla.1_Missense_Mutation_p.G470W|NELL2_uc001roi.1_Missense_Mutation_p.G447W|NELL2_uc010slb.1_Missense_Mutation_p.G446W|NELL2_uc001roj.2_Missense_Mutation_p.G447W NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 447 EGF-like 2; calcium-binding (Potential). cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TAATGGCGCCCTTCAGCACAC 0.418 NA 8 43 2.17888e-05 2.63281e-05 0.006214 1 0 KRT82 3888 broad.mit.edu 37 12 52797658 52797658 + Silent SNP C C T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr12:52797658C>T uc001sai.1 - 2 562 c.447G>A c.(445-447)GAG>GAA p.E149E NM_033033 NP_149022 Q9NSB4 KRT82_HUMAN keratin 82 149 Coil 1A.|Rod. keratin filament protein binding|structural constituent of epidermis ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.193) TCCACTTGGTCTCCAGCAGCT 0.567 NA 4 28 0 0 0.009096 0 0 ESPL1 9700 broad.mit.edu 37 12 53663492 53663492 + Silent SNP T T C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr12:53663492T>C uc001sck.2 + 3 857 c.766T>C c.(766-768)TTG>CTG p.L256L ESPL1_uc001scj.2_5'UTR NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 256 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 GGAGCTCACCTTGGAACACTG 0.587 Colon(53;1069 1201 2587 5382) NA 5 93 0 0 0.014758 0 0 PDE1B 5153 broad.mit.edu 37 12 54967437 54967437 + Missense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr12:54967437G>T uc001sgd.1 + 10 1174 c.1008G>T c.(1006-1008)ATG>ATT p.M336I PDE1B_uc010soz.1_Missense_Mutation_p.M199I|PDE1B_uc010spa.1_Missense_Mutation_p.M295I|PDE1B_uc001sgf.2_Missense_Mutation_p.M199I|PDE1B_uc001sge.2_Missense_Mutation_p.M316I|PDE1B_uc009znq.2_Missense_Mutation_p.M132I NM_000924 NP_000915 Q01064 PDE1B_HUMAN phosphodiesterase 1B isoform 1 336 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 CCACAGACATGTCCTGCCATT 0.582 NA 19 141 4.35082e-09 5.86854e-09 0.010504 1 0 NEUROD4 58158 broad.mit.edu 37 12 55421051 55421051 + Silent SNP C C G TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr12:55421051C>G uc001sgp.3 + 2 1206 c.828C>G c.(826-828)TCC>TCG p.S276S NM_021191 NP_067014 Q9HD90 NDF4_HUMAN neurogenic differentiation 4 276 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 TAGAAAAATCCTACAGCTTCA 0.502 NA 31 202 0 0 0.010818 0 0 OR6C2 341416 broad.mit.edu 37 12 55846592 55846592 + Missense_Mutation SNP C C T rs141026850 TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr12:55846592C>T uc001sgz.1 + 1 595 c.595C>T c.(595-597)CTT>TTT p.L199F NM_054105 NP_473446 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, 199 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 GATGGTTATACTTATGGCTGT 0.398 NA 13 148 0 0 0.016723 0 0 BEST3 144453 broad.mit.edu 37 12 70048953 70048953 + Missense_Mutation SNP C C G TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr12:70048953C>G uc001svg.2 - 10 1968 c.1741G>C c.(1741-1743)GAC>CAC p.D581H BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.D368H|BEST3_uc010stm.1_Missense_Mutation_p.D475H NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN vitelliform macular dystrophy 2-like 3 isoform 581 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) TCACCAGGGTCTTCTTCACAG 0.532 NA 3 36 0 0 0.004672 0 0 CDK17 5128 broad.mit.edu 37 12 96688884 96688884 + Missense_Mutation SNP A A G TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr12:96688884A>G uc001tep.1 - 10 1379 c.890T>C c.(889-891)ATT>ACT p.I297T CDK17_uc009ztk.2_Missense_Mutation_p.I297T|CDK17_uc010svb.1_Missense_Mutation_p.I244T NM_002595 NP_002586 Q00537 CDK17_HUMAN PCTAIRE protein kinase 2 297 Protein kinase. ATP binding|cyclin-dependent protein kinase activity ovary(3)|lung(2)|kidney(1)|central_nervous_system(1) 7 ACCACGTAGAATTTGGTACAG 0.348 NA 7 62 0 0 0.001984 0 0 TDG 6996 broad.mit.edu 37 12 104373742 104373742 + Silent SNP C C T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr12:104373742C>T uc001tkg.2 + 3 523 c.300C>T c.(298-300)GAC>GAT p.D100D TDG_uc010swh.1_Silent_p.D100D|TDG_uc009zuk.2_Silent_p.D96D|TDG_uc010swi.1_5'UTR|TDG_uc010swj.1_5'UTR NM_003211 NP_003202 Q13569 TDG_HUMAN thymine-DNA glycosylase 100 depyrimidination|mismatch repair nucleoplasm damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity ovary(3)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(302;0.00114) AAATTACAGACACATTTAAAG 0.358 NA BER_DNA_glycosylases 4 61 0 0 0.014758 0 0 RIMBP2 23504 broad.mit.edu 37 12 130926814 130926814 + Silent SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr12:130926814G>A uc001uil.2 - 8 1196 c.1032C>T c.(1030-1032)CTC>CTT p.L344L RIMBP2_uc001uim.2_Silent_p.L252L|RIMBP2_uc001uin.1_Silent_p.L3L NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 344 Fibronectin type-III 1. cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TCCCCAGCGTGAGGTTCATGC 0.612 NA 10 76 0 0 0.008291 0 0 FLT1 2321 broad.mit.edu 37 13 29012365 29012365 + Missense_Mutation SNP A A G TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr13:29012365A>G uc001usb.3 - 4 791 c.506T>C c.(505-507)TTA>TCA p.L169S FLT1_uc010aar.1_Missense_Mutation_p.L169S|FLT1_uc001usc.3_Missense_Mutation_p.L169S|FLT1_uc010tdp.1_Missense_Mutation_p.L169S NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 169 Ig-like C2-type 2.|Extracellular (Potential). 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) TACCTTTTTTAAAGTAACAGT 0.383 NA 4 34 0 0 0.014758 0 0 DCLK1 9201 broad.mit.edu 37 13 36382450 36382450 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr13:36382450C>A uc001uvf.2 - 14 2007 c.1774G>T c.(1774-1776)GAT>TAT p.D592Y DCLK1_uc001uve.3_Missense_Mutation_p.D285Y|DCLK1_uc010teh.1_Missense_Mutation_p.D285Y|DCLK1_uc010abk.2_Missense_Mutation_p.D112Y NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 592 Protein kinase. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) TCCTGGTCATCACCACTTCTG 0.448 NA 16 53 1.01871e-10 1.4553e-10 0.008871 1 0 OR4M1 441670 broad.mit.edu 37 14 20248934 20248934 + Silent SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr14:20248934G>T uc010tku.1 + 1 453 c.453G>T c.(451-453)GGG>GGT p.G151G NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 151 Helical; Name=4; (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) CCTGGATGGGGGGCTTCATTC 0.502 NA 105 106 2.03867e-50 3.39778e-50 0.01441 1 0 CTSG 1511 broad.mit.edu 37 14 25044575 25044575 + Silent SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr14:25044575G>T uc001wpq.2 - 2 136 c.99C>A c.(97-99)CCC>CCA p.P33P NM_001911 NP_001902 P08311 CATG_HUMAN cathepsin G preproprotein 33 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) ACGCCATGTAGGGGCGGGAGT 0.572 NA 53 66 1.19553e-41 1.98116e-41 0.01441 1 0 FSCB 84075 broad.mit.edu 37 14 44973895 44973896 + Missense_Mutation DNP CC CC AA TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr14:44973895_44973896CC>AA uc001wvn.2 - 1 2604_2605 c.2295_2296GG>TT c.(2293-2298)GTGGCA>GTTTCA p.A766S NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 766 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) GGAATTCCTGCCACCTGCGGTG 0.426 NA 43 107 0 0 0.004672 0 0 FLVCR2 55640 broad.mit.edu 37 14 76045408 76045408 + Silent SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr14:76045408C>A uc001xrs.2 + 1 469 c.93C>A c.(91-93)CCC>CCA p.P31P NM_017791 NP_060261 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular 31 8 X 6 AA tandem repeats of P-S-[VS]-S- [VIAG]-[HNP].|2. transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity 0 BRCA - Breast invasive adenocarcinoma(234;0.029) CGGTCCATCCCAGCGTCTCGG 0.642 NA 38 38 3.33393e-15 5.08864e-15 0.021022 1 0 DISP2 85455 broad.mit.edu 37 15 40660665 40660665 + Silent SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr15:40660665C>A uc001zlk.1 + 8 2441 c.2352C>A c.(2350-2352)GGC>GGA p.G784G NM_033510 NP_277045 A7MBM2 DISP2_HUMAN dispatched B 784 smoothened signaling pathway integral to membrane ovary(2) 2 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) TGGACACTGGCGACCCTCTGG 0.682 NA 13 58 0.000151284 0.000177621 0.016723 1 0 IQGAP1 8826 broad.mit.edu 37 15 90984897 90984897 + Missense_Mutation SNP T T C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr15:90984897T>C uc002bpl.1 + 8 910 c.809T>C c.(808-810)ATG>ACG p.M270T NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 270 energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) CAGGACAAAATGACAAATGCT 0.333 NA 8 41 0 0 0.00308 0 0 PCSK6 5046 broad.mit.edu 37 15 101906498 101906498 + Missense_Mutation SNP T T A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr15:101906498T>A uc002bwy.2 - 14 2075 c.1761A>T c.(1759-1761)GAA>GAT p.E587D PCSK6_uc010bpd.2_Missense_Mutation_p.E383D|PCSK6_uc010bpe.2_Missense_Mutation_p.E587D|PCSK6_uc002bxa.2_Missense_Mutation_p.E587D|PCSK6_uc002bxb.2_Missense_Mutation_p.E587D|PCSK6_uc002bxc.1_Missense_Mutation_p.E587D|PCSK6_uc002bxd.1_Missense_Mutation_p.E587D|PCSK6_uc002bxe.2_Missense_Mutation_p.E587D|PCSK6_uc002bxf.1_Missense_Mutation_p.E87D NM_002570 NP_002561 P29122 PCSK6_HUMAN paired basic amino acid cleaving system 4 587 Homo B/P. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity pancreas(2) 2 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CAGTCATGAATTCCCAGTTTG 0.537 NA 5 29 0 0 0.014758 0 0 A2BP1 54715 broad.mit.edu 37 16 7703884 7703884 + Silent SNP C C T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr16:7703884C>T uc002cys.2 + 12 1813 c.825C>T c.(823-825)CGC>CGT p.R275R A2BP1_uc010buf.1_Silent_p.R275R|A2BP1_uc002cyr.1_Silent_p.R274R|A2BP1_uc002cyt.2_Silent_p.R248R|A2BP1_uc010uxz.1_Silent_p.R318R|A2BP1_uc010uya.1_Silent_p.R232R|A2BP1_uc002cyv.1_Silent_p.R275R|A2BP1_uc010uyb.1_Silent_p.R275R|A2BP1_uc002cyw.2_Silent_p.R295R|A2BP1_uc002cyy.2_Silent_p.R295R|A2BP1_uc002cyx.2_Silent_p.R295R|A2BP1_uc010uyc.1_Silent_p.R268R NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 275 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) TGCGAGGCCGCGGTCGCACCG 0.617 NA 4 29 0 0 0.009096 0 0 NPIP 9284 broad.mit.edu 37 16 15026684 15026684 + Splice_Site SNP G G C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr16:15026684G>C uc002dcx.3 + 8 c.1247_splice c.e8-1 Q9UND3 NPIP_HUMAN Homo sapiens neuroblastoma cDNA, clone:Nbla00537, full insert sequence. mRNA transport|protein transport|transmembrane transport nuclear membrane|nuclear pore 0 CGCCTCTGCAGGGCTCAGCCC 0.642 NA 14 80 0 0 0.016723 0 0 ACSM2B 348158 broad.mit.edu 37 16 20548643 20548643 + Missense_Mutation SNP T T G TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr16:20548643T>G uc002dhj.3 - 15 1881 c.1671A>C c.(1669-1671)AAA>AAC p.K557N ACSM2B_uc002dhk.3_Missense_Mutation_p.K557N NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 557 ATP (By similarity). fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 TTCGTTGAATTTTCCCTGTGA 0.473 NA 65 222 0 0 0.01441 0 0 CDIPT 10423 broad.mit.edu 37 16 29874031 29874031 + Silent SNP C C T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr16:29874031C>T uc002dum.2 - 2 454 c.54G>A c.(52-54)CGG>CGA p.R18R uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CDIPT_uc002duk.2_5'Flank|CDIPT_uc002dul.2_5'UTR|CDIPT_uc002dun.2_Intron|LOC440356_uc010veb.1_5'Flank|LOC440356_uc002duo.2_5'Flank NM_006319 NP_006310 O14735 CDIPT_HUMAN CDP-diacylglycerol-inositol 18 Helical; (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity 0 CGAAGACAATCCGGGCATAAC 0.652 NA 11 47 0 0 0.008291 0 0 ZNF720 124411 broad.mit.edu 37 16 31734594 31734594 + Missense_Mutation SNP A A T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr16:31734594A>T uc002ecn.3 + 3 350 c.146A>T c.(145-147)AAG>ATG p.K49M ZNF720_uc010vfs.1_Translation_Start_Site|ZNF720_uc002eco.2_Intron|ZNF720_uc002ecp.1_Intron|ZNF720_uc002ecq.2_Missense_Mutation_p.K51M NM_001130913 NP_001124385 Q7Z2F6 ZN720_HUMAN zinc finger protein 720 49 KRAB. regulation of transcription, DNA-dependent intracellular nucleic acid binding 0 GCTGTCTCTAAGCCGGACCTG 0.468 NA 7 24 0 0 0.004482 0 0 KCTD19 146212 broad.mit.edu 37 16 67328886 67328886 + Missense_Mutation SNP C C T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr16:67328886C>T uc002esu.2 - 10 1516 c.1465G>A c.(1465-1467)GAA>AAA p.E489K KCTD19_uc002est.2_Missense_Mutation_p.E261K|KCTD19_uc010vjj.1_Missense_Mutation_p.E232K NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN potassium channel tetramerisation domain 489 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) TTGTATGCTTCACATTGTGCA 0.443 NA 14 40 0 0 0.016723 0 0 PDXDC2 283970 broad.mit.edu 37 16 70012166 70012166 + Nonsense_Mutation SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr16:70012166G>A uc010vlq.1 - 5 647 c.469C>T c.(469-471)CAA>TAA p.Q157* CLEC18C_uc002exy.2_Intron|PDXDC2_uc002eyb.2_RNA|PDXDC2_uc002eyc.2_Intron SubName: Full=Putative uncharacterized protein; 0 CGCAACTCTTGCGCACGTTGA 0.453 NA 32 123 0 0 0.021022 0 0 PSMD7 5713 broad.mit.edu 37 16 74339302 74339302 + Missense_Mutation SNP G G A rs115842956 by1000genomes TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr16:74339302G>A uc002fcq.2 + 7 778 c.646G>A c.(646-648)GCC>ACC p.A216T PSMD7_uc010vmr.1_Missense_Mutation_p.A139T NM_002811 NP_002802 P51665 PSD7_HUMAN proteasome 26S non-ATPase subunit 7 216 A -> G (in Ref. 1; BAA08780). anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle protein binding 0 GGAAAAAGTCGCCACAGGCAA 0.552 NA 13 20 0 0 0.016723 0 0 FOXL1 2300 broad.mit.edu 37 16 86613358 86613358 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr16:86613358C>A uc002fjr.2 + 1 1244 c.1029C>A c.(1027-1029)CAC>CAA p.H343Q NM_005250 NP_005241 Q12952 FOXL1_HUMAN forkhead box L1 343 brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut 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 skin(1) 1 CGGTACTCCACTTCCAGTAAA 0.587 NSCLC(163;308 2020 10889 11476 18208) NA 12 28 4.3838e-07 5.60045e-07 0.016723 1 0 ZZEF1 23140 broad.mit.edu 37 17 3984731 3984731 + Missense_Mutation SNP T T C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr17:3984731T>C uc002fxe.2 - 18 2832 c.2768A>G c.(2767-2769)AAG>AGG p.K923R ZZEF1_uc002fxk.1_Missense_Mutation_p.K924R NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 923 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GATGTTCATCTTGGCCAGGTC 0.498 NA 28 44 0 0 0.007291 0 0 WSCD1 23302 broad.mit.edu 37 17 6021387 6021387 + Silent SNP T T A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr17:6021387T>A uc010cli.2 + 8 1633 c.1254T>A c.(1252-1254)ATT>ATA p.I418I WSCD1_uc002gcn.2_Silent_p.I418I|WSCD1_uc002gco.2_Silent_p.I418I|WSCD1_uc010clj.2_Silent_p.I109I NM_015253 NP_056068 Q658N2 WSCD1_HUMAN WSC domain containing 1 418 integral to membrane sulfotransferase activity 0 GGAGGGAGATTGAGATGTTTG 0.547 NA 13 33 0 0 0.016723 0 0 TP53 7157 broad.mit.edu 37 17 7579358 7579358 + Missense_Mutation SNP C C A rs11540654 TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr17:7579358C>A uc002gim.2 - 4 523 c.329G>T c.(328-330)CGT>CTT p.R110L TP53_uc002gig.1_Missense_Mutation_p.R110L|TP53_uc002gih.2_Missense_Mutation_p.R110L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.R110L|TP53_uc010cni.1_Missense_Mutation_p.R110L|TP53_uc002gij.2_Missense_Mutation_p.R110L|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.R71L|TP53_uc010cnk.1_Missense_Mutation_p.R125L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 110 Interaction with HIPK1 (By similarity).||Interaction with WWOX. R -> G (in a sporadic cancer; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R110L(24)|p.R110P(8)|p.0?(7)|p.R110fs*13(5)|p.R110C(4)|p.G59fs*23(3)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.F109_R110insXX(1)|p.G105_T125del21(1)|p.R110fs*18(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.R110S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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) GAAGCCCAGACGGAAACCGTA 0.612 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) 21 44 1.96292e-10 2.73677e-10 0.010504 1 0 MYH3 4621 broad.mit.edu 37 17 10535949 10535949 + Silent SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr17:10535949G>A uc002gmq.1 - 33 4877 c.4800C>T c.(4798-4800)AGC>AGT p.S1600S NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 1600 Potential. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 CGTCCAGGGCGCTCTGCATGG 0.527 NA 7 234 0 0 0.00308 0 0 GGNBP2 79893 broad.mit.edu 37 17 34942353 34942353 + Missense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr17:34942353G>T uc002hnb.2 + 11 1699 c.1450G>T c.(1450-1452)GAT>TAT p.D484Y GGNBP2_uc002hna.2_3'UTR|GGNBP2_uc002hnc.1_Missense_Mutation_p.D313Y NM_024835 NP_079111 Q9H3C7 GGNB2_HUMAN zinc finger protein 403 484 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle ovary(2) 2 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) GGAGGGTTCGGATGTTGCCTG 0.418 NA 28 93 3.00307e-07 3.85349e-07 0.008361 1 0 ADAM11 4185 broad.mit.edu 37 17 42850753 42850753 + Missense_Mutation SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr17:42850753G>A uc002ihh.2 + 11 950 c.950G>A c.(949-951)CGG>CAG p.R317Q ADAM11_uc010wjd.1_Missense_Mutation_p.R117Q NM_002390 NP_002381 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 preproprotein 317 Extracellular (Potential).|Peptidase M12B. integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding pancreas(1) 1 Prostate(33;0.0959) GTCTACCGACGGGAGGGTCTG 0.622 NA 4 49 0 0 0.014758 0 0 MSI2 124540 broad.mit.edu 37 17 55478805 55478805 + Silent SNP A A C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr17:55478805A>C uc002iuz.1 + 6 551 c.378A>C c.(376-378)GTA>GTC p.V126V MSI2_uc010wnm.1_Silent_p.V104V|MSI2_uc002iva.2_Silent_p.V122V NM_138962 NP_620412 Q96DH6 MSI2H_HUMAN musashi 2 isoform a 126 RRM 2. cytoplasm nucleotide binding|RNA binding central_nervous_system(1)|pancreas(1) 2 Breast(9;1.78e-08) GBM - Glioblastoma multiforme(1;0.0025) TGGAAGATGTAAAGCAATATT 0.463 NA T HOXA9 CML 14 82 0 0 0.004007 0 0 PPM1D 8493 broad.mit.edu 37 17 58678193 58678193 + Missense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr17:58678193G>T uc002iyt.1 + 1 640 c.418G>T c.(418-420)GCT>TCT p.A140S PPM1D_uc010ddm.1_RNA NM_003620 NP_003611 O15297 PPM1D_HUMAN protein phosphatase 1D 140 PP2C-like. negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity upper_aerodigestive_tract(1) 1 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) TAAGGTTTGCGCTGCCATCCG 0.592 NA 23 37 2.89027e-11 4.17004e-11 0.014323 1 0 ABCA6 23460 broad.mit.edu 37 17 67119514 67119514 + Silent SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr17:67119514G>A uc002jhw.1 - 10 1477 c.1302C>T c.(1300-1302)TTC>TTT p.F434F NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 434 transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) ATGAATTCAAGAAAAATAAAG 0.363 NA 6 32 0 0 0.001168 0 0 KCNJ16 3773 broad.mit.edu 37 17 68128482 68128482 + Nonsense_Mutation SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr17:68128482G>A uc002jin.2 + 5 740 c.254G>A c.(253-255)TGG>TAG p.W85* KCNJ16_uc002jio.2_Nonsense_Mutation_p.W85*|KCNJ16_uc002jip.2_Nonsense_Mutation_p.W85*|KCNJ16_uc002jiq.2_Nonsense_Mutation_p.W117* NM_018658 NP_061128 Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel J16 85 Helical; Name=M1; (By similarity). synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(10;2.96e-09) ATTCTCTCGTGGTTGATATTT 0.418 NA 8 92 0 0 0.004482 0 0 GPR142 350383 broad.mit.edu 37 17 72368476 72368476 + Missense_Mutation SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr17:72368476G>A uc010wqy.1 + 4 1126 c.1126G>A c.(1126-1128)GTC>ATC p.V376I GPR142_uc010wqx.1_Missense_Mutation_p.V288I NM_181790 NP_861455 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 376 Helical; Name=6; (Potential). cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 CCGGGTCTTCGTCATGCTCTA 0.662 NA 11 59 0 0 0.008291 0 0 ITGB4 3691 broad.mit.edu 37 17 73748568 73748568 + Missense_Mutation SNP G G T rs140930313 TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr17:73748568G>T uc002jpg.2 + 32 4205 c.4018G>T c.(4018-4020)GGG>TGG p.G1340W ITGB4_uc002jph.2_Missense_Mutation_p.G1340W|ITGB4_uc002jpi.3_Missense_Mutation_p.G1340W|ITGB4_uc002jpj.2_Missense_Mutation_p.G1340W|GALK1_uc010wsi.1_Intron NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 1340 Cytoplasmic (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CGCCCAGAGCGGGGAGGACTA 0.652 NA 9 75 0.00829132 0.00887263 0.008291 1 0 CYTH1 9267 broad.mit.edu 37 17 76705803 76705803 + Missense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr17:76705803G>T uc002jvw.2 - 2 105 c.34C>A c.(34-36)CTG>ATG p.L12M CYTH1_uc010wtw.1_Translation_Start_Site|CYTH1_uc010wtx.1_Translation_Start_Site NM_017456 NP_059430 Q15438 CYH1_HUMAN cytohesin 1 isoform 2 12 Potential. regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 TCTGCTGTCAGGTCACTGGGA 0.473 NA 15 52 1.5739e-10 2.21568e-10 0.004007 1 0 CARD14 79092 broad.mit.edu 37 17 78176159 78176159 + Missense_Mutation SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr17:78176159G>A uc002jxw.1 + 15 2354 c.2159G>A c.(2158-2160)CGC>CAC p.R720H CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.R720H|CARD14_uc010wud.1_RNA NM_024110 NP_077015 Q9BXL6 CAR14_HUMAN caspase recruitment domain protein 14 isoform 1 720 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) CATGCCCACCGCGTGAACTCT 0.637 NA 10 25 0 0 0.008291 0 0 OR7G1 125962 broad.mit.edu 37 19 9226302 9226302 + Silent SNP G G C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr19:9226302G>C uc002mks.1 - 1 138 c.138C>G c.(136-138)CTC>CTG p.L46L NM_001005192 NP_001005192 Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, 46 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 TGACAGCCAGGAGAATGAGCA 0.488 NA 16 86 0 0 0.004007 0 0 ZNF99 7652 broad.mit.edu 37 19 22940301 22940301 + Missense_Mutation SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr19:22940301G>A uc010xrh.1 - 5 2137 c.2137C>T c.(2137-2139)CTT>TTT p.L713F NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TGTTTTCTAAGGGTTGAGGAA 0.338 NA 5 25 0 0 0.001168 0 0 CCDC123 84902 broad.mit.edu 37 19 33370117 33370117 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr19:33370117C>A uc002nty.2 - 19 2392 c.2303G>T c.(2302-2304)GGC>GTC p.G768V CCDC123_uc002ntx.2_Missense_Mutation_p.G521V|CCDC123_uc010edg.2_RNA NM_032816 NP_116205 Q96ST8 CEP89_HUMAN coiled-coil domain containing 123 768 centrosome|spindle pole 0 Esophageal squamous(110;0.137) GACATCGCAGCCGTCCAGCAG 0.617 NA 5 89 3.62473e-10 5.00558e-10 0.012319 1 0 CCDC123 84902 broad.mit.edu 37 19 33370119 33370119 + Silent SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr19:33370119G>A uc002nty.2 - 19 2390 c.2301C>T c.(2299-2301)GAC>GAT p.D767D CCDC123_uc002ntx.2_Silent_p.D520D|CCDC123_uc010edg.2_RNA NM_032816 NP_116205 Q96ST8 CEP89_HUMAN coiled-coil domain containing 123 767 centrosome|spindle pole 0 Esophageal squamous(110;0.137) CATCGCAGCCGTCCAGCAGGT 0.612 NA 5 94 0 0 0.012319 0 0 FFAR1 2864 broad.mit.edu 37 19 35842897 35842897 + Missense_Mutation SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr19:35842897G>A uc002nzc.2 + 1 453 c.443G>A c.(442-444)GGA>GAA p.G148E NM_005303 NP_005294 O14842 FFAR1_HUMAN free fatty acid receptor 1 148 Extracellular (Potential). energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding central_nervous_system(1) 1 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) Icosapent(DB00159) GAGGCTCCAGGAGGCTGGCTG 0.682 NA 23 53 0 0 0.016522 0 0 FCGBP 8857 broad.mit.edu 37 19 40368760 40368760 + Missense_Mutation SNP G G C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr19:40368760G>C uc002omp.3 - 28 12596 c.12588C>G c.(12586-12588)GAC>GAG p.D4196E NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4196 VWFD 10. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCCAGTTCCAGTCATAGCTGA 0.612 NA 4 141 0 0 0.001984 0 0 PSG7 5676 broad.mit.edu 37 19 43439665 43439665 + Silent SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr19:43439665C>A uc002ovl.3 - 3 423 c.321G>T c.(319-321)CTG>CTT p.L107L PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Intron NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 107 Ig-like V-type. female pregnancy extracellular region 0 Prostate(69;0.00682) TCTGGATCAGCAGGGATGCAT 0.423 NA 50 517 2.84144e-21 4.50282e-21 0.01441 1 0 TEX101 83639 broad.mit.edu 37 19 43920644 43920644 + Missense_Mutation SNP G G C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr19:43920644G>C uc010xwo.1 + 4 523 c.328G>C c.(328-330)GAG>CAG p.E110Q TEX101_uc002owk.2_Missense_Mutation_p.E128Q NM_001130011 NP_001123483 Q9BY14 TX101_HUMAN testis expressed 101 isoform 2 110 anchored to membrane|plasma membrane ovary(1) 1 Prostate(69;0.0199) TAACTACTGTGAGGATTCCTT 0.527 NA 10 279 0 0 0.013537 0 0 ZNF226 7769 broad.mit.edu 37 19 44680542 44680542 + Missense_Mutation SNP C C T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr19:44680542C>T uc002oyp.2 + 6 1271 c.1127C>T c.(1126-1128)TCT>TTT p.S376F ZNF226_uc002oyq.2_Missense_Mutation_p.S259F|ZNF226_uc002oyr.2_Missense_Mutation_p.S259F|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Missense_Mutation_p.S376F|ZNF226_uc002oyt.2_Missense_Mutation_p.S376F NM_001032373 NP_001027545 Q9NYT6 ZN226_HUMAN zinc finger protein 226 isoform a 376 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) AGTCAGGCCTCTCATCTTCAG 0.478 Pancreas(115;581 1665 13228 19278 50070) NA 20 58 0 0 0.010504 0 0 QPCTL 54814 broad.mit.edu 37 19 46196733 46196733 + Silent SNP A A T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr19:46196733A>T uc010xxr.1 + 2 491 c.270A>T c.(268-270)CCA>CCT p.P90P SNRPD2_uc002pcv.2_5'Flank|SNRPD2_uc002pcw.2_5'Flank|QPCTL_uc010ekn.2_Silent_p.P90P NM_017659 NP_060129 Q9NXS2 QPCTL_HUMAN glutaminyl-peptide cyclotransferase-like isoform 90 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis Golgi membrane|integral to membrane acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding skin(1) 1 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208) AACTGGATCCACAGCGTCTCT 0.607 NA OREG0025560 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 92 0 0 0.006122 0 0 DMWD 1762 broad.mit.edu 37 19 46289666 46289666 + Missense_Mutation SNP C C G TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr19:46289666C>G uc002pdj.1 - 3 1134 c.1088G>C c.(1087-1089)CGA>CCA p.R363P DMWD_uc002pdk.1_Missense_Mutation_p.R363P|DMWD_uc010eko.1_Missense_Mutation_p.R48P NM_004943 NP_004934 Q09019 DMWD_HUMAN dystrophia myotonica-containing WD repeat motif 363 WD 3. meiosis 0 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) GCCATGGCCTCGAGCCACCAC 0.667 NA 14 56 0 0 0.00499 0 0 MEIS3 56917 broad.mit.edu 37 19 47920532 47920532 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr19:47920532C>A uc002pgu.2 - 2 535 c.88G>T c.(88-90)GCA>TCA p.A30S MEIS3_uc002pgp.2_5'Flank|MEIS3_uc002pgq.2_Missense_Mutation_p.A111S|MEIS3_uc002pgr.2_5'UTR|MEIS3_uc002pgt.2_Missense_Mutation_p.A30S|MEIS3_uc002pgv.2_Missense_Mutation_p.A30S|MEIS3_uc002pgs.2_Missense_Mutation_p.A30S|MEIS3_uc010eld.2_Missense_Mutation_p.A30S|MEIS3_uc002pgw.2_Silent_p.P142P NM_001009813 NP_001009813 Q99687 MEIS3_HUMAN Meis1, myeloid ecotropic viral integration site 30 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223) CCTGGTACTGCGGGCACTGTC 0.652 NA 15 52 5.3912e-06 6.62478e-06 0.006122 1 0 SYT3 84258 broad.mit.edu 37 19 51133135 51133135 + Missense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr19:51133135G>T uc002pst.2 - 3 1602 c.968C>A c.(967-969)GCC>GAC p.A323D SYT3_uc002psv.2_Missense_Mutation_p.A323D|SYT3_uc010ycd.1_Missense_Mutation_p.A323D NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN synaptotagmin III 323 C2 1.|Cytoplasmic (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) GAGGTCCAGGGCCTGCAGGAT 0.607 NA 5 86 0.00116845 0.00128352 0.001168 1 0 LILRA6 79168 broad.mit.edu 37 19 54744954 54744954 + Silent SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr19:54744954G>T uc002qeu.1 - 5 832 c.708C>A c.(706-708)GCC>GCA p.A236A LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Silent_p.A236A|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Silent_p.A236A|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.A236A|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Silent_p.A236A|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Silent_p.A236A|LILRA6_uc010yeq.1_Silent_p.A236A|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Silent_p.A97A NM_024318 NP_077294 Q6PI73 LIRA6_HUMAN leukocyte immunoglobulin-like receptor, 236 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane receptor activity skin(2) 2 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCTGCCCAGGGGCCAGGACAG 0.642 NA 5 73 0.000602214 0.000676908 0.014758 1 0 PPP1R12C 54776 broad.mit.edu 37 19 55603623 55603623 + Silent SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr19:55603623C>A uc002qix.2 - 19 2143 c.2127G>T c.(2125-2127)GCG>GCT p.A709A PPP1R12C_uc010yfs.1_Silent_p.A634A|PPP1R12C_uc002qiy.2_Silent_p.A707A NM_017607 NP_060077 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 709 Potential. cytoplasm ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) CCTTGAGCTGCGCCAGCCGCA 0.697 NA 3 7 0.004672 0.00503673 0.004672 1 0 FSHR 2492 broad.mit.edu 37 2 49247259 49247259 + Missense_Mutation SNP C C G rs140960768 byFrequency TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr2:49247259C>G uc002rww.2 - 3 339 c.265G>C c.(265-267)GAT>CAT p.D89H FSHR_uc002rwx.2_Missense_Mutation_p.D89H|FSHR_uc010fbn.2_Missense_Mutation_p.D89H|FSHR_uc010fbo.1_RNA NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 89 LRR 2.|Extracellular (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) GAGAACACATCTGCCTCTATC 0.378 NA Gonadal_Dysgenesis_46_XX 13 438 0 0 0.020292 0 0 VWA3B 200403 broad.mit.edu 37 2 98744867 98744867 + Missense_Mutation SNP A A C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr2:98744867A>C uc002syo.2 + 6 1132 c.868A>C c.(868-870)AGC>CGC p.S290R VWA3B_uc010yvh.1_Missense_Mutation_p.S140R|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.2_Missense_Mutation_p.S290R|VWA3B_uc002syn.1_RNA NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 290 ovary(3)|large_intestine(2)|skin(1) 6 CAAGACCCACAGCAGGTAGGC 0.517 NA 12 50 0 0 0.016723 0 0 TSGA10 80705 broad.mit.edu 37 2 99636892 99636892 + Missense_Mutation SNP C C G TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr2:99636892C>G uc002szg.3 - 16 2296 c.1668G>C c.(1666-1668)CAG>CAC p.Q556H TSGA10_uc002szh.3_Missense_Mutation_p.Q556H|TSGA10_uc002szi.3_Missense_Mutation_p.Q556H|TSGA10_uc010fin.1_Missense_Mutation_p.Q556H NM_182911 NP_878915 Q9BZW7 TSG10_HUMAN testis specific, 10 556 Interaction with HIF1A (By similarity). spermatogenesis cytoplasm|nuclear membrane ovary(1)|central_nervous_system(1) 2 CATTTGCCATCTGACTCCTCA 0.383 NA 8 49 0 0 0.008291 0 0 TSGA10 80705 broad.mit.edu 37 2 99636894 99636894 + Nonsense_Mutation SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr2:99636894G>A uc002szg.3 - 16 2294 c.1666C>T c.(1666-1668)CAG>TAG p.Q556* TSGA10_uc002szh.3_Nonsense_Mutation_p.Q556*|TSGA10_uc002szi.3_Nonsense_Mutation_p.Q556*|TSGA10_uc010fin.1_Nonsense_Mutation_p.Q556* NM_182911 NP_878915 Q9BZW7 TSG10_HUMAN testis specific, 10 556 Interaction with HIF1A (By similarity). spermatogenesis cytoplasm|nuclear membrane ovary(1)|central_nervous_system(1) 2 TTTGCCATCTGACTCCTCAGG 0.383 NA 8 49 0 0 0.008291 0 0 POTEE 445582 broad.mit.edu 37 2 132021537 132021537 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr2:132021537C>A uc002tsn.2 + 15 2561 c.2509C>A c.(2509-2511)CAG>AAG p.Q837K PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.Q437K|POTEE_uc002tsl.2_Missense_Mutation_p.Q419K|POTEE_uc010fmy.1_Missense_Mutation_p.Q301K NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 837 Actin-like. ATP binding 0 CGTGGCCATCCAGGCCGTGCC 0.607 NA 5 167 1.33987e-11 1.95257e-11 0.008291 1 0 LRP1B 53353 broad.mit.edu 37 2 141214102 141214102 + Silent SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr2:141214102G>T uc002tvj.1 - 62 10857 c.9885C>A c.(9883-9885)ACC>ACA p.T3295T NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3295 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.T3295S(1) 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) CACAAGTGTGGGTTTTTCCAG 0.438 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 11 53 1.08611e-07 1.41243e-07 0.010729 1 0 PLA2R1 22925 broad.mit.edu 37 2 160832630 160832630 + Silent SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr2:160832630G>A uc002ube.1 - 17 2751 c.2544C>T c.(2542-2544)CTC>CTT p.L848L PLA2R1_uc010zcp.1_Silent_p.L848L|PLA2R1_uc002ubf.2_Silent_p.L848L NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor 848 Extracellular (Potential).|C-type lectin 5. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 AATGAATTGTGAGAAGATCAC 0.403 NA 26 81 0 0 0.00632 0 0 KCNH7 90134 broad.mit.edu 37 2 163693088 163693088 + Nonsense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr2:163693088G>T uc002uch.1 - 2 478 c.266C>A c.(265-267)TCA>TAA p.S89* KCNH7_uc002uci.2_Nonsense_Mutation_p.S89* NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 89 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) CCTCTCTTCTGACCCCAGCAA 0.443 GBM(196;1492 2208 17507 24132 45496) NA 7 35 5.4927e-09 7.34048e-09 0.004482 1 0 TTN 7273 broad.mit.edu 37 2 179445159 179445159 + Missense_Mutation SNP T T G TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr2:179445159T>G uc010zfg.1 - 266 59467 c.59243A>C c.(59242-59244)GAC>GCC p.D19748A uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D13443A|TTN_uc010zfi.1_Missense_Mutation_p.D13376A|TTN_uc010zfj.1_Missense_Mutation_p.D13251A|uc002umv.1_3'UTR NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20675 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) CAAGAAAGTGTCAAAGTCAGT 0.393 NA 3 94 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179641023 179641023 + Missense_Mutation SNP C C G TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr2:179641023C>G uc010zfg.1 - 28 5792 c.5568G>C c.(5566-5568)GAG>GAC p.E1856D TTN_uc010zfh.1_Missense_Mutation_p.E1810D|TTN_uc010zfi.1_Missense_Mutation_p.E1810D|TTN_uc010zfj.1_Missense_Mutation_p.E1810D|TTN_uc002unb.2_Missense_Mutation_p.E1856D|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1856 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) ACCTTGCAGTCTCCCCTTCAA 0.483 NA 7 153 0 0 0.00308 0 0 DUSP19 142679 broad.mit.edu 37 2 183948268 183948268 + Silent SNP C C T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr2:183948268C>T uc002upd.2 + 2 634 c.259C>T c.(259-261)CTG>TTG p.L87L DUSP19_uc010frp.2_Silent_p.L87L|DUSP19_uc010zfr.1_Intron|DUSP19_uc002upe.2_Silent_p.L87L NM_080876 NP_543152 Q8WTR2 DUS19_HUMAN dual specificity phosphatase 19 isoform 1 87 JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity cytoplasm JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity ovary(4)|pancreas(1) 5 TTTGGATACACTGAAAAAGAA 0.294 NA 19 67 0 0 0.014323 0 0 ZDBF2 57683 broad.mit.edu 37 2 207170978 207170978 + Missense_Mutation SNP T T A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr2:207170978T>A uc002vbp.2 + 5 1976 c.1726T>A c.(1726-1728)TCG>ACG p.S576T NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 576 nucleic acid binding|zinc ion binding ovary(3) 3 TAACTATGGATCGAGTTGTTC 0.438 NA 3 33 0 0 0.004672 0 0 MAP2 4133 broad.mit.edu 37 2 210557723 210557723 + Nonsense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr2:210557723G>T uc002vde.1 + 7 1077 c.829G>T c.(829-831)GAG>TAG p.E277* MAP2_uc002vdc.1_Nonsense_Mutation_p.E277*|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Nonsense_Mutation_p.E273* NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 277 E -> D (in a colorectal cancer sample; somatic mutation). 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 p.E277D(1) 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) AAAAAAGGATGAGTGGGGTTT 0.458 Pancreas(27;423 979 28787 29963) NA 8 58 0.00307968 0.00337021 0.00308 1 0 SIRPD 128646 broad.mit.edu 37 20 1517840 1517840 + Missense_Mutation SNP C C T rs143061754 TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr20:1517840C>T uc002wfi.2 - 3 582 c.538G>A c.(538-540)GTC>ATC p.V180I NM_178460 NP_848555 Q9H106 SIRPD_HUMAN signal-regulatory protein delta precursor 180 extracellular region ovary(1)|kidney(1)|skin(1) 3 CAGGGTTGGACGAAATAGTTT 0.612 NA 4 82 0 0 0.009096 0 0 CD93 22918 broad.mit.edu 37 20 23066732 23066732 + Missense_Mutation SNP C C G TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr20:23066732C>G uc002wsv.2 - 1 246 c.98G>C c.(97-99)GGG>GCG p.G33A NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN CD93 antigen precursor 33 Extracellular (Potential).|C-type lectin. cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding large_intestine(2) 2 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GCAGGCGGTCCCCACGCAGAC 0.607 NA 7 7 0 0 0.006214 0 0 PHF20 51230 broad.mit.edu 37 20 34519298 34519298 + Missense_Mutation SNP G G C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr20:34519298G>C uc002xek.1 + 15 2343 c.2232G>C c.(2230-2232)CAG>CAC p.Q744H 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) CCACCCACCAGCTTCTTGGTG 0.527 NA 65 45 0 0 0.01441 0 0 BPI 671 broad.mit.edu 37 20 36965569 36965569 + Missense_Mutation SNP G G A rs5743549 byFrequency TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr20:36965569G>A uc002xib.2 + 15 1509 c.1447G>A c.(1447-1449)GAC>AAC p.D483N NM_001725 NP_001716 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 483 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding ovary(4) 4 Myeloproliferative disorder(115;0.00878) GTTCGGTGCAGACGTTGTCTA 0.547 NA 19 169 0 0 0.016522 0 0 OPRL1 4987 broad.mit.edu 37 20 62729693 62729693 + Nonsense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr20:62729693C>A uc002yic.2 + 5 1056 c.654C>A c.(652-654)TGC>TGA p.C218* OPRL1_uc002yid.2_Nonsense_Mutation_p.C218*|OPRL1_uc002yif.3_Nonsense_Mutation_p.C213* NM_182647 NP_872588 P41146 OPRX_HUMAN opiate receptor-like 1 218 Helical; Name=5; (Potential). elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|skin(1) 2 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) TTGCCATCTGCATCTTCCTCT 0.622 NA 37 48 1.04352e-10 1.48343e-10 0.017118 1 0 SAMSN1 64092 broad.mit.edu 37 21 15872985 15872985 + Silent SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr21:15872985C>A uc002yju.1 - 6 715 c.633G>T c.(631-633)GTG>GTT p.V211V SAMSN1_uc010gky.1_Silent_p.V43V|SAMSN1_uc002yjv.1_Silent_p.V279V NM_022136 NP_071419 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization 211 SH3. negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding ovary(3)|pancreas(1) 4 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) TGAAGTTTCCCACTTTATTGT 0.388 NA 56 120 2.93687e-30 4.81183e-30 0.01441 1 0 KCNJ6 3763 broad.mit.edu 37 21 39087237 39087237 + Missense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr21:39087237G>T uc011aej.1 - 3 276 c.223C>A c.(223-225)CGC>AGC p.R75S KCNJ6_uc002ywo.2_Missense_Mutation_p.R75S NM_002240 NP_002231 P48051 IRK6_HUMAN potassium inwardly-rectifying channel J6 75 Cytoplasmic (By similarity). synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 Halothane(DB01159) GTCAGGTAGCGATAGGTCTCC 0.463 Pancreas(48;379 1118 2936 19024 28214) NA 46 84 4.44401e-20 6.92884e-20 0.010771 1 0 KRTAP10-3 386682 broad.mit.edu 37 21 45978487 45978487 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr21:45978487C>A uc002zfj.1 - 1 157 c.112G>T c.(112-114)GCC>TCC p.A38S C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198696 NP_941969 P60369 KR103_HUMAN keratin associated protein 10-3 38 3.|18 X 5 AA repeats of C-C-X(3). keratin filament skin(1) 1 GGGGCCGGGGCGCAGCAGCTG 0.697 NA 10 27 7.07596e-05 8.47946e-05 0.006122 1 0 CSF2RB 1439 broad.mit.edu 37 22 37329941 37329941 + Missense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr22:37329941G>T uc003aqa.3 + 10 1437 c.1220G>T c.(1219-1221)AGG>ATG p.R407M CSF2RB_uc003aqc.3_Missense_Mutation_p.R413M NM_000395 NP_000386 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta 407 Extracellular (Potential).|Fibronectin type-III 2. respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity skin(2)|pancreas(1) 3 Sargramostim(DB00020) CCCTCCACCAGGTACTGGGCC 0.682 NA 6 25 3.59834e-05 4.32995e-05 0.001168 1 0 SMC1B 27127 broad.mit.edu 37 22 45758883 45758883 + Missense_Mutation SNP G G C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr22:45758883G>C uc003bgc.2 - 16 2496 c.2444C>G c.(2443-2445)ACT>AGT p.T815S SMC1B_uc003bgd.2_Missense_Mutation_p.T815S NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN SMC1 structural maintenance of chromosomes 815 Potential. chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding ovary(2) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) ATTAAGCCGAGTTTTTTGTTT 0.294 NA 3 50 0 0 0.004672 0 0 GRM7 2917 broad.mit.edu 37 3 6903372 6903372 + Silent SNP G G C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr3:6903372G>C uc003bqm.2 + 1 571 c.297G>C c.(295-297)GTG>GTC p.V99V GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.V99V|GRM7_uc003bql.2_Silent_p.V99V NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 99 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) TGCCCAACGTGACGCTGGGCG 0.597 NA 6 13 0 0 0.001984 0 0 MTMR14 64419 broad.mit.edu 37 3 9726311 9726311 + Missense_Mutation SNP G G T rs121434509 TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr3:9726311G>T uc003brz.2 + 11 1131 c.1007G>T c.(1006-1008)CGG>CTG p.R336L MTMR14_uc003bsa.2_Missense_Mutation_p.R336L|MTMR14_uc003bsb.2_Missense_Mutation_p.R336L|MTMR14_uc011ath.1_RNA|MTMR14_uc010hcl.2_Missense_Mutation_p.R90L|MTMR14_uc003bsc.2_RNA NM_001077525 NP_001070993 Q8NCE2 MTMRE_HUMAN jumpy isoform 2 336 R -> Q (in a ADCNM patient; drastically reduced enzymatic activity). perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity skin(1) 1 Medulloblastoma(99;0.227) GGCTGGGATCGGACCCCCCTC 0.577 NA 19 48 1.55795e-14 2.35315e-14 0.012319 1 0 DCLK3 85443 broad.mit.edu 37 3 36779750 36779750 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr3:36779750C>A uc003cgi.2 - 2 892 c.401G>T c.(400-402)GGT>GTT p.G134V NM_033403 NP_208382 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 134 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1) 9 GATAATTTCACCCGAGGTCTT 0.572 NA 34 91 1.36615e-20 2.14153e-20 0.013726 1 0 NKTR 4820 broad.mit.edu 37 3 42674246 42674246 + Missense_Mutation SNP C C G TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr3:42674246C>G uc003clo.2 + 9 851 c.704C>G c.(703-705)TCT>TGT p.S235C NKTR_uc003clm.1_5'UTR|NKTR_uc003clp.2_5'UTR|NKTR_uc011azp.1_Missense_Mutation_p.S125C|NKTR_uc003clq.1_Missense_Mutation_p.S125C|NKTR_uc003clr.1_5'UTR|NKTR_uc003cls.2_5'UTR NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 235 Arg/Lys-rich (basic).|Arg/Ser-rich. protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) GTTAAACGTTCTAAAAAGAGG 0.408 NA 3 55 0 0 0.009096 0 0 ABHD5 51099 broad.mit.edu 37 3 43743969 43743969 + Silent SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr3:43743969G>A uc003cmx.2 + 3 506 c.396G>A c.(394-396)GTG>GTA p.V132V NM_016006 NP_057090 Q8WTS1 ABHD5_HUMAN abhydrolase domain containing 5 132 cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process cytosol|lipid particle 1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity ovary(1) 1 Renal(3;0.0134) KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687) ATCAGTTTGTGGAATCCATTG 0.468 NA 53 102 0 0 0.01441 0 0 LRIG1 26018 broad.mit.edu 37 3 66436675 66436675 + Missense_Mutation SNP T T C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr3:66436675T>C uc003dmx.2 - 13 1533 c.1519A>G c.(1519-1521)ATG>GTG p.M507V SLC25A26_uc011bft.1_RNA|LRIG1_uc011bfu.1_Missense_Mutation_p.M127V|LRIG1_uc003dmw.2_Missense_Mutation_p.M173V|LRIG1_uc010hnz.2_Missense_Mutation_p.M223V|LRIG1_uc010hoa.2_Missense_Mutation_p.M531V NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like 507 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane skin(3)|ovary(2) 5 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TTGCCCACCATAGCCATGGTG 0.537 NA 6 225 0 0 0.001168 0 0 ROBO2 6092 broad.mit.edu 37 3 77629248 77629248 + Missense_Mutation SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr3:77629248G>A uc003dpy.3 + 16 3122 c.2479G>A c.(2479-2481)GAG>AAG p.E827K ROBO2_uc003dpz.2_Missense_Mutation_p.E831K|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.E831K NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 827 Extracellular (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AGTAAAGAGTGAGCCACAGCC 0.448 NA 14 30 0 0 0.00499 0 0 UROC1 131669 broad.mit.edu 37 3 126202291 126202291 + Missense_Mutation SNP C C G TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr3:126202291C>G uc003eiz.1 - 19 1843 c.1811G>C c.(1810-1812)GGA>GCA p.G604A UROC1_uc010hsi.1_Missense_Mutation_p.G664A NM_144639 NP_653240 Q96N76 HUTU_HUMAN urocanase domain containing 1 isoform 1 604 histidine catabolic process cytosol urocanate hydratase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.17) GAGGCCGAATCCCCCGTTGAT 0.607 NA 3 25 0 0 0.004672 0 0 HLTF 6596 broad.mit.edu 37 3 148760028 148760028 + Missense_Mutation SNP G G C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr3:148760028G>C uc003ewq.1 - 19 2340 c.2122C>G c.(2122-2124)CTT>GTT p.L708V HLTF_uc003ewr.1_Missense_Mutation_p.L708V|HLTF_uc003ews.1_Missense_Mutation_p.L707V|HLTF_uc010hve.1_Missense_Mutation_p.L707V NM_139048 NP_620636 Q14527 HLTF_HUMAN helicase-like transcription factor 708 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) CTAAGCAAAAGACCCAGGACA 0.368 NA 3 68 0 0 0.004672 0 0 KCNAB1 7881 broad.mit.edu 37 3 156234123 156234123 + Silent SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr3:156234123G>A uc003far.2 + 11 994 c.930G>A c.(928-930)GGG>GGA p.G310G KCNAB1_uc011bon.1_Silent_p.G281G|KCNAB1_uc003fas.2_Silent_p.G299G|KCNAB1_uc003fat.2_Silent_p.G292G|KCNAB1_uc010hvt.1_Silent_p.G263G|KCNAB1_uc011boo.1_Silent_p.G186G NM_172160 NP_751892 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related 310 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity ovary(3)|skin(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) ACGGAAACGGGGTGCCTGAAA 0.453 NA 8 51 0 0 0.00308 0 0 SPATA16 83893 broad.mit.edu 37 3 172835115 172835115 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr3:172835115C>A uc003fin.3 - 2 565 c.407G>T c.(406-408)CGC>CTC p.R136L NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 136 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding ovary(2)|skin(1) 3 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) AAACTCATAGCGAACACCCAT 0.423 NA 5 121 1.024e-07 1.34982e-07 0.014758 1 0 KLHL6 89857 broad.mit.edu 37 3 183273319 183273319 + Silent SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr3:183273319G>T uc003flr.2 - 1 181 c.123C>A c.(121-123)ATC>ATA p.I41I KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Silent_p.I39I NM_130446 NP_569713 Q8WZ60 KLHL6_HUMAN kelch-like 6 41 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) CCCCATTTAAGATCTCGACCA 0.517 NA 11 159 2.27111e-07 2.92721e-07 0.013537 1 0 FRYL 285527 broad.mit.edu 37 4 48583536 48583536 + Silent SNP C C T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr4:48583536C>T uc003gyh.1 - 21 2678 c.2073G>A c.(2071-2073)GCG>GCA p.A691A FRYL_uc003gyk.2_Silent_p.A691A NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 691 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 GAATGACAAGCGCAAAGCCTT 0.468 NA 4 50 0 0 0.009096 0 0 PARM1 25849 broad.mit.edu 37 4 75937931 75937931 + Missense_Mutation SNP G G A rs34305542 TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr4:75937931G>A uc003hih.1 + 2 580 c.340G>A c.(340-342)GGT>AGT p.G114S NM_015393 NP_056208 Q6UWI2 PARM1_HUMAN prostatic androgen-repressed message-1 114 Extracellular (Potential). positive regulation of telomerase activity early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane ovary(1) 1 GTCAACAAGCGGTGGAGTCCA 0.567 NA 30 52 0 0 0.007291 0 0 EEF1A1P9 441032 broad.mit.edu 37 4 106406047 106406047 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr4:106406047C>A uc003hxt.1 + 1 185 c.55C>A c.(55-57)CGT>AGT p.R19S NR_003586 SubName: Full=Eukaryotic translation elongation factor 1 alpha; Flags: Fragment; 0 GAAAGCTGAGCGTGAACATGG 0.443 NA 16 41 1.5739e-10 2.21568e-10 0.004007 1 0 ANK2 287 broad.mit.edu 37 4 114278606 114278606 + Silent SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr4:114278606C>A uc003ibe.3 + 38 8932 c.8832C>A c.(8830-8832)ACC>ACA p.T2944T ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Silent_p.T246T|ANK2_uc011cgb.1_Silent_p.T2959T NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2911 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) AAAGCAAAACCCAAACAGATG 0.408 NA 72 155 5.89852e-23 9.39873e-23 0.01441 1 0 FSTL5 56884 broad.mit.edu 37 4 162577586 162577586 + Missense_Mutation SNP C C T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr4:162577586C>T uc003iqh.2 - 7 1224 c.788G>A c.(787-789)GGA>GAA p.G263E FSTL5_uc003iqi.2_Missense_Mutation_p.G262E|FSTL5_uc010iqv.2_Missense_Mutation_p.G262E NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 263 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) AGCACTTTGTCCCACAGTTGC 0.403 NA 4 52 0 0 0.001168 0 0 KIAA1712 80817 broad.mit.edu 37 4 175220304 175220304 + Missense_Mutation SNP G G A rs73011419 byFrequency TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr4:175220304G>A uc003itr.2 + 3 446 c.32G>A c.(31-33)CGG>CAG p.R11Q KIAA1712_uc010iro.2_Missense_Mutation_p.R11Q|KIAA1712_uc003its.2_RNA NM_001040157 NP_001035247 Q9C0F1 CEP44_HUMAN HBV PreS1-transactivated protein 3 isoform a 11 centrosome|midbody|spindle pole 0 Prostate(90;0.00276)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196) all cancers(43;4.06e-18)|Epithelial(43;1.18e-15)|OV - Ovarian serous cystadenocarcinoma(60;4.65e-09)|GBM - Glioblastoma multiforme(59;0.00098)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0949) AGAAGCTTACGGAACCTAGAA 0.373 NA 6 52 0 0 0.001984 0 0 CDH6 1004 broad.mit.edu 37 5 31299636 31299636 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr5:31299636C>A uc003jhe.1 + 5 1035 c.709C>A c.(709-711)CAA>AAA p.Q237K CDH6_uc003jhd.1_Missense_Mutation_p.Q237K NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 237 Extracellular (Potential).|Cadherin 2. 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 AGTGGTGATTCAAGCCAAGGA 0.498 NA 27 57 1.1804e-14 1.79222e-14 0.021523 1 0 FYB 2533 broad.mit.edu 37 5 39201957 39201957 + Missense_Mutation SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr5:39201957G>A uc003jls.2 - 1 1173 c.1106C>T c.(1105-1107)ACG>ATG p.T369M FYB_uc003jlt.2_Missense_Mutation_p.T369M|FYB_uc003jlu.2_Missense_Mutation_p.T369M|FYB_uc011cpl.1_Missense_Mutation_p.T379M NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 369 Interaction with SKAP1. cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) GTGGAATTTCGTCAGGTCAAC 0.458 NA 4 44 0 0 0.014758 0 0 FGF10 2255 broad.mit.edu 37 5 44388547 44388547 + Missense_Mutation SNP T T C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr5:44388547T>C uc003jog.1 - 1 238 c.238A>G c.(238-240)AGA>GGA p.R80G NM_004465 NP_004456 O15520 FGF10_HUMAN fibroblast growth factor 10 precursor 80 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding lung(3) 3 Lung NSC(6;1.12e-06) AATAGCTTTCTCCAGCGGACA 0.507 NA 3 59 0 0 0.009096 0 0 ISL1 3670 broad.mit.edu 37 5 50683565 50683565 + Silent SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr5:50683565C>A uc003jor.2 + 3 1008 c.460C>A c.(460-462)CGG>AGG p.R154R NM_002202 NP_002193 P61371 ISL1_HUMAN islet-1 154 generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 Lung NSC(810;0.000845)|Breast(144;0.0411) GCATCCAGCGCGGCCACTGCA 0.647 NA 4 19 0.00909568 0.00959181 0.009096 1 0 GZMA 3001 broad.mit.edu 37 5 54404187 54404187 + Missense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr5:54404187G>T uc003jpm.2 + 4 629 c.592G>T c.(592-594)GCT>TCT p.A198S NM_006144 NP_006135 P12544 GRAA_HUMAN granzyme A precursor 198 Peptidase S1. cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis extracellular region|immunological synapse|nucleus protein homodimerization activity|serine-type endopeptidase activity ovary(2)|pancreas(1)|skin(1) 4 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) TATGGTTTGTGCTGGAAGCCT 0.378 NA 7 67 0.000274275 0.000311921 0.004482 1 0 RAB3C 115827 broad.mit.edu 37 5 58147149 58147149 + Missense_Mutation SNP C C T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr5:58147149C>T uc003jrp.2 + 5 752 c.655C>T c.(655-657)CCT>TCT p.P219S NM_138453 NP_612462 Q96E17 RAB3C_HUMAN RAB3C, member RAS oncogene family 219 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding ovary(1)|central_nervous_system(1) 2 all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664) OV - Ovarian serous cystadenocarcinoma(10;1.8e-34) GGAAACTCCTCCTCCACCGCA 0.527 NA 12 29 0 0 0.010729 0 0 ELL2 22936 broad.mit.edu 37 5 95234413 95234413 + Missense_Mutation SNP C C G TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr5:95234413C>G uc003klr.3 - 8 1406 c.1056G>C c.(1054-1056)TTG>TTC p.L352F NM_012081 NP_036213 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 352 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex central_nervous_system(1) 1 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) TGGTGGGATTCAAATGACCAT 0.498 NA 8 189 0 0 0.004482 0 0 ZNF474 133923 broad.mit.edu 37 5 121487887 121487887 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr5:121487887C>A uc003ksv.2 + 2 578 c.202C>A c.(202-204)CTA>ATA p.L68I NM_207317 NP_997200 Q6S9Z5 ZN474_HUMAN zinc finger protein 474 68 intracellular zinc ion binding 0 all_cancers(142;0.229)|Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415) GACTGTGATACTATCAAAACT 0.463 NA 40 91 6.33695e-27 1.02666e-26 0.007835 1 0 CTNNA1 1495 broad.mit.edu 37 5 138118888 138118888 + Missense_Mutation SNP A A T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr5:138118888A>T uc003ldh.2 + 3 223 c.128A>T c.(127-129)AAT>ATT p.N43I CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_5'UTR|CTNNA1_uc003ldi.2_5'UTR|CTNNA1_uc003ldj.2_Missense_Mutation_p.N43I NM_001903 NP_001894 P35221 CTNA1_HUMAN catenin, alpha 1 43 Involved in homodimerization. adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding breast(6)|ovary(2)|large_intestine(2)|kidney(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GTAAACACCAATAGTAAAGGG 0.363 NA 15 34 0 0 0.003163 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203586 140203586 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr5:140203586C>A uc003lhl.2 + 1 2226 c.2226C>A c.(2224-2226)AGC>AGA p.S742R 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_Missense_Mutation_p.S742R|PCDHA5_uc003lhj.1_Missense_Mutation_p.S742R NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 742 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGCTCCAGCGCGGTGGGGA 0.652 NA 8 25 0.000442599 0.000501382 0.006214 1 0 PCDHA8 56140 broad.mit.edu 37 5 140220966 140220966 + Silent SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr5:140220966C>A uc003lhs.2 + 1 60 c.60C>A c.(58-60)CTC>CTA p.L20L 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_uc003lhr.1_Silent_p.L20L NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 20 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding p.L20F(1) upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTTCTGCTCCTCGCAGCCT 0.557 NA 17 41 1.99824e-07 2.587e-07 0.00499 1 0 PCDHB11 56125 broad.mit.edu 37 5 140581504 140581504 + Silent SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr5:140581504G>T uc003liy.2 + 1 2157 c.2157G>T c.(2155-2157)GCG>GCT p.A719A PCDHB11_uc011daj.1_Silent_p.A354A NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 719 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAGCAGGGCGGCCTCGGTGG 0.652 NA 46 82 2.22293e-35 3.66279e-35 0.01441 1 0 PCDHB18 54660 broad.mit.edu 37 5 140615910 140615910 + Missense_Mutation SNP A A G TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr5:140615910A>G uc003ljc.1 + 1 1973 c.1625A>G c.(1624-1626)GAC>GGC p.D542G NR_001281 SubName: Full=Similar to protocadherin-3 (Pcdh3); ovary(1) 1 GTGGACGGCGACTCGGGCCAG 0.721 NA 13 33 0 0 0.016723 0 0 KIF4B 285643 broad.mit.edu 37 5 154394152 154394152 + Missense_Mutation SNP G G C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr5:154394152G>C uc010jih.1 + 1 893 c.733G>C c.(733-735)GAA>CAA p.E245Q NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 245 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CGCTGGATCAGAAAGACAGAA 0.428 NA 3 78 0 0 0.004672 0 0 GABRA6 2559 broad.mit.edu 37 5 161116336 161116336 + Missense_Mutation SNP G G C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr5:161116336G>C uc003lyu.2 + 5 861 c.523G>C c.(523-525)GGG>CGG p.G175R GABRA6_uc003lyv.2_5'Flank NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 175 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ACTCAAGTTTGGGAGCTGTAA 0.383 NA TCGA Ovarian(5;0.080) 15 71 0 0 0.003163 0 0 CDHR2 54825 broad.mit.edu 37 5 176008567 176008567 + Missense_Mutation SNP T T A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr5:176008567T>A uc003mem.1 + 17 2108 c.2042T>A c.(2041-2043)GTC>GAC p.V681D CDHR2_uc003men.1_Missense_Mutation_p.V681D NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 681 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 AAAGTCAATGTCACCATCACT 0.622 NA 4 32 0 0 0.009096 0 0 COL23A1 91522 broad.mit.edu 37 5 177715330 177715330 + Missense_Mutation SNP A A G TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr5:177715330A>G uc003mje.2 - 5 794 c.436T>C c.(436-438)TAC>CAC p.Y146H NM_173465 NP_775736 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 146 Extracellular (Potential).|Collagen-like 1.|Gly-rich. collagen|integral to membrane|plasma membrane protein binding central_nervous_system(1)|skin(1) 2 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) 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) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) ATTACCGGGTAGCCATCTCGT 0.418 NA 29 144 0 0 0.00632 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179301942 179301942 + Missense_Mutation SNP C C T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr5:179301942C>T uc003mlh.2 - 12 2183 c.2146G>A c.(2146-2148)GGC>AGC p.G716S TBC1D9B_uc003mli.2_Missense_Mutation_p.G716S|TBC1D9B_uc003mlj.2_Missense_Mutation_p.G716S|TBC1D9B_uc011dgv.1_5'Flank NM_198868 NP_942568 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 716 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(1)|skin(1) 2 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCGCTGCAGCCCAGCAGCTGC 0.647 NA 6 43 0 0 0.001168 0 0 SCAND3 114821 broad.mit.edu 37 6 28541214 28541214 + Missense_Mutation SNP T T A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr6:28541214T>A uc003nlo.2 - 4 3070 c.2452A>T c.(2452-2454)AGT>TGT p.S818C NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 818 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 cgcaaagcactaatgtttata 0 NA 50 130 0 0 0.01441 0 0 SKIV2L 6499 broad.mit.edu 37 6 31935558 31935558 + Missense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr6:31935558G>T uc003nyn.1 + 22 3039 c.2650G>T c.(2650-2652)GAC>TAC p.D884Y SKIV2L_uc011dou.1_Missense_Mutation_p.D726Y|SKIV2L_uc011dov.1_Missense_Mutation_p.D691Y NM_006929 NP_008860 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like homolog 884 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 CTTGTCCCAGGACCCACAGGA 0.592 NA 16 70 4.7546e-09 6.3835e-09 0.004007 1 0 TULP1 7287 broad.mit.edu 37 6 35466187 35466187 + Missense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr6:35466187G>T uc003okv.3 - 15 1558 c.1546C>A c.(1546-1548)CTA>ATA p.L516I TEAD3_uc003oku.3_5'Flank|TEAD3_uc010jvx.2_5'Flank|TULP1_uc003okw.3_Missense_Mutation_p.L463I NM_003322 NP_003313 O00294 TULP1_HUMAN tubby like protein 1 516 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 CGGTAGTCTAGGGTGAAGGCG 0.677 GBM(55;1027 1091 11115 23439) NA 4 26 0.00116845 0.00128352 0.001168 1 0 GPR111 222611 broad.mit.edu 37 6 47647951 47647951 + Missense_Mutation SNP T T A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr6:47647951T>A uc010jzj.1 + 5 617 c.616T>A c.(616-618)TGG>AGG p.W206R GPR111_uc010jzk.1_Missense_Mutation_p.W138R|GPR111_uc003oyy.2_RNA NM_153839 NP_722581 Q8IZF7 GP111_HUMAN G-protein coupled receptor 111 206 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 GCAGTCTCCCTGGATACCAGG 0.423 NA 23 100 0 0 0.004656 0 0 RHAG 6005 broad.mit.edu 37 6 49582478 49582478 + Silent SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr6:49582478C>A uc003ozk.3 - 5 791 c.729G>T c.(727-729)ACG>ACT p.T243T RHAG_uc010jzl.2_Silent_p.T243T|RHAG_uc010jzm.2_Silent_p.T243T NM_000324 NP_000315 Q02094 RHAG_HUMAN Rh-associated glycoprotein 243 Helical; (Potential). carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|skin(1) 2 Lung NSC(77;0.0255) GAGAGAAGTACGTGTTTACAA 0.537 Ovarian(176;476 2003 7720 43408 44749) NA 15 79 1.05317e-09 1.44066e-09 0.020292 1 0 FAM83B 222584 broad.mit.edu 37 6 54805254 54805254 + Missense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr6:54805254G>T uc003pck.2 + 5 1601 c.1485G>T c.(1483-1485)TGG>TGT p.W495C NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 495 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) TACGTAACTGGAGAATTGAAT 0.408 NA 16 94 7.81268e-19 1.21159e-18 0.00499 1 0 COL19A1 1310 broad.mit.edu 37 6 70916660 70916660 + Silent SNP T T C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr6:70916660T>C uc003pfc.1 + 50 3396 c.3279T>C c.(3277-3279)AGT>AGC p.S1093S NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 1093 Triple-helical region 6 (COL6). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 TGCCAGGGAGTCCAGGTCTTC 0.443 NA 9 18 0 0 0.010729 0 0 PREP 5550 broad.mit.edu 37 6 105781267 105781267 + Missense_Mutation SNP C C A rs144257084 TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr6:105781267C>A uc003prc.2 - 8 1140 c.937G>T c.(937-939)GTG>TTG p.V313L NM_002726 NP_002717 P48147 PPCE_HUMAN prolyl endopeptidase 313 proteolysis serine-type endopeptidase activity ovary(3) 3 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) ATGTTGATCACGCGATAGTTG 0.443 NA 4 87 0.00909568 0.00959181 0.009096 1 0 MIOS 54468 broad.mit.edu 37 7 7629038 7629038 + Missense_Mutation SNP A A T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr7:7629038A>T uc003srf.2 + 9 2195 c.1887A>T c.(1885-1887)TTA>TTT p.L629F MIOS_uc003srg.2_Missense_Mutation_p.L164F|MIOS_uc010ktq.2_Intron NM_019005 NP_061878 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog 629 0 TTTTCCAGTTAAATAGATACA 0.313 NA 30 84 0 0 0.00632 0 0 SNX13 23161 broad.mit.edu 37 7 17838743 17838743 + Missense_Mutation SNP A A G TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr7:17838743A>G uc003stw.1 - 23 2579 c.2366T>C c.(2365-2367)CTT>CCT p.L789P SNX13_uc003stv.2_Missense_Mutation_p.L778P|SNX13_uc010kuc.2_Missense_Mutation_p.L575P|SNX13_uc010kub.2_Missense_Mutation_p.L184P Q9Y5W8 SNX13_HUMAN SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g; 789 cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity central_nervous_system(2)|kidney(1) 3 Lung NSC(10;0.0261)|all_lung(11;0.0521) ATCCATGAGAAGCAGCATTAC 0.333 NA 5 51 0 0 0.014758 0 0 GPR141 353345 broad.mit.edu 37 7 37780032 37780032 + Missense_Mutation SNP G G T rs141399721 by1000genomes TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr7:37780032G>T uc003tfm.1 + 1 37 c.37G>T c.(37-39)GAT>TAT p.D13Y uc003tfl.2_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN G protein-coupled receptor 141 13 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 TTCCTCTTGCGATCCTATAGT 0.468 NA 50 246 1.19403e-26 1.92372e-26 0.01441 1 0 EPDR1 54749 broad.mit.edu 37 7 37988642 37988642 + Missense_Mutation SNP C C G TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr7:37988642C>G uc003tfp.2 + 2 849 c.830C>G c.(829-831)GCT>GGT p.A277G EPDR1_uc003tfq.2_Intron|EPDR1_uc010kxh.2_Missense_Mutation_p.A96G NM_017549 NP_060019 Q9UM22 EPDR1_HUMAN ependymin related protein 1 precursor 157 cell-matrix adhesion extracellular region calcium ion binding upper_aerodigestive_tract(1) 1 AGAAAGTCAGCTAGATCCTGT 0.463 NA 20 33 0 0 0.007413 0 0 EGFR 1956 broad.mit.edu 37 7 55249005 55249005 + Missense_Mutation SNP G G T rs146024686 TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr7:55249005G>T uc003tqk.2 + 20 2549 c.2303G>T c.(2302-2304)AGC>ATC p.S768I EGFR_uc010kzg.1_Missense_Mutation_p.S723I|EGFR_uc011kco.1_Missense_Mutation_p.S715I|uc003tqo.2_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 768 Cytoplasmic (Potential).|Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.S768I(53)|p.S768_V769insAWT(1)|p.S768N(1)|p.S752_V769del(1)|p.S768_V769insVAS(1)|p.S768C(1)|p.S768_V769>IL(1)|p.A767_S768insTLA(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GTGATGGCCAGCGTGGACAAC 0.637 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 19 78 3.28513e-13 4.86065e-13 0.021523 1 0 EGFR 1956 broad.mit.edu 37 7 55249007 55249007 + Missense_Mutation SNP G G T rs147149347 TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr7:55249007G>T uc003tqk.2 + 20 2551 c.2305G>T c.(2305-2307)GTG>TTG p.V769L EGFR_uc010kzg.1_Missense_Mutation_p.V724L|EGFR_uc011kco.1_Missense_Mutation_p.V716L|uc003tqo.2_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 769 Cytoplasmic (Potential).|Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V769_D770insASV(20)|p.V769_D770insGVV(2)|p.V769M(2)|p.V769L(2)|p.V769_D770insMASVD(2)|p.V769_D770insDNV(1)|p.S768_V769insAWT(1)|p.V769_D770insCV(1)|p.S752_V769del(1)|p.V769_D770insGSV(1)|p.S768_V769insVAS(1)|p.V769_D770insGV(1)|p.S768_V769>IL(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GATGGCCAGCGTGGACAACCC 0.637 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 19 77 3.28513e-13 4.86065e-13 0.021523 1 0 KCTD7 154881 broad.mit.edu 37 7 66103260 66103260 + Missense_Mutation SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr7:66103260G>A uc003tve.2 + 3 497 c.335G>A c.(334-336)CGC>CAC p.R112H RABGEF1_uc003tvf.2_5'UTR|KCTD7_uc003tvd.3_Missense_Mutation_p.R112H NM_153033 NP_694578 Q96MP8 KCTD7_HUMAN potassium channel tetramerisation domain 112 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|central_nervous_system(1) 3 AATTTCCTGCGCTCAGGGGAC 0.567 NA 7 92 0 0 0.001984 0 0 PEX1 5189 broad.mit.edu 37 7 92147358 92147358 + Splice_Site SNP T T A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr7:92147358T>A uc003uly.2 - 5 569 c.473_splice c.e5-1 p.V158_splice PEX1_uc011khr.1_Splice_Site|PEX1_uc010ley.2_Splice_Site_p.V158_splice|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_Splice_Site NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TTAGTGCAACTGTGTAGAAAA 0.388 NA 6 37 0 0 0.001984 0 0 MUC17 140453 broad.mit.edu 37 7 100686537 100686537 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr7:100686537C>A uc003uxp.1 + 3 11893 c.11840C>A c.(11839-11841)ACC>AAC p.T3947N MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3947 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) ACTCCTGTCACCAGTTCTACT 0.463 NA 30 90 2.70662e-09 3.66785e-09 0.009535 1 0 LAMB4 22798 broad.mit.edu 37 7 107692568 107692568 + Missense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr7:107692568G>T uc010ljo.1 - 26 3974 c.3890C>A c.(3889-3891)TCC>TAC p.S1297Y LAMB4_uc003vey.2_Missense_Mutation_p.S1297Y|LAMB4_uc010ljp.1_Missense_Mutation_p.S266Y NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 1297 Domain II.|Potential. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 AAGGACACTGGATTGCAAATC 0.378 NA 38 149 6.5261e-18 1.00136e-17 0.00874 1 0 PNPLA8 50640 broad.mit.edu 37 7 108119758 108119758 + Silent SNP T T C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr7:108119758T>C uc003vff.1 - 11 2351 c.1944A>G c.(1942-1944)CCA>CCG p.P648P PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Silent_p.P648P|PNPLA8_uc003vfi.1_Silent_p.P548P|PNPLA8_uc003vfj.1_Silent_p.P648P|PNPLA8_uc003vfk.1_Silent_p.P548P NM_015723 NP_056538 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 648 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(2) 2 ACGGCACATCTGGCCAAAGAC 0.393 NA 24 61 0 0 0.01892 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117400700 117400700 + Missense_Mutation SNP A A C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr7:117400700A>C uc003vjf.2 - 10 3053 c.2961T>G c.(2959-2961)GAT>GAG p.D987E NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 987 ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) ATTCCAAGTCATCAGAACCAT 0.348 NA 30 134 0 0 0.008361 0 0 CPA4 51200 broad.mit.edu 37 7 129939236 129939236 + Missense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr7:129939236G>T uc003vpr.2 + 3 324 c.277G>T c.(277-279)GAC>TAC p.D93Y CPA4_uc011kpd.1_Missense_Mutation_p.D93Y|CPA4_uc011kpe.1_Intron NM_016352 NP_057436 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 preproprotein 93 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) GACAATTGAGGACCTGCAGGT 0.522 NA 13 46 4.36969e-10 6.00574e-10 0.016723 1 0 EXOC4 60412 broad.mit.edu 37 7 133622733 133622733 + Missense_Mutation SNP A A T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr7:133622733A>T uc003vrk.2 + 14 2152 c.2117A>T c.(2116-2118)GAC>GTC p.D706V EXOC4_uc011kpo.1_Missense_Mutation_p.D605V|EXOC4_uc003vrl.2_Missense_Mutation_p.D316V|EXOC4_uc011kpp.1_Missense_Mutation_p.D238V|EXOC4_uc011kpq.1_5'UTR NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a 706 vesicle docking involved in exocytosis exocyst protein N-terminus binding ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1) 9 Esophageal squamous(399;0.129) GACGTCAGTGACCTCAAAGCC 0.453 NA 30 73 0 0 0.008361 0 0 MGAM 8972 broad.mit.edu 37 7 141730170 141730170 + Missense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr7:141730170G>T uc003vwy.2 + 11 1284 c.1230G>T c.(1228-1230)CAG>CAT p.Q410H NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 410 Lumenal (Potential).|Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AGGATGTTCAGCATGCTGATA 0.328 NA 7 31 0.000157383 0.000181837 0.00308 1 0 TRY6 154754 broad.mit.edu 37 7 142480063 142480063 + Nonsense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr7:142480063C>A uc011ksq.1 + 2 278 c.195C>A c.(193-195)TAC>TAA p.Y65* uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_RNA|uc003wan.1_Intron|TRY6_uc011kso.1_RNA|TRY6_uc011ksr.1_RNA NR_001296 SubName: Full=Protease, serine, 3; Flags: Fragment; 0 GTCACTGCTACAAGCCGTAAG 0.567 NA 5 42 0.000157383 0.000181837 0.00308 1 0 Unknown 0 broad.mit.edu 37 7 142510501 142510501 + Silent SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr7:142510501C>A uc003wbp.2 - 2 217 c.105G>T c.(103-105)CCG>CCT p.P35P SubName: Full=V_segment translation product; Flags: Fragment; NA CCAGAGAGAGCGGGCTGCCCA 0.572 NA 5 12 0.00116845 0.00128352 0.001168 1 0 ASB10 136371 broad.mit.edu 37 7 150884096 150884096 + Missense_Mutation SNP G G C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr7:150884096G>C uc003wjm.1 - 1 383 c.257C>G c.(256-258)TCT>TGT p.S86C ASB10_uc003wjl.1_Missense_Mutation_p.S86C|ASB10_uc003wjn.1_Intron NM_001142459 NP_001135931 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box-containing 10 41 intracellular signal transduction 0 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCCCGGGCCAGACTTGAGGTG 0.662 NA 6 14 0 0 0.001168 0 0 PTPRN2 5799 broad.mit.edu 37 7 157926709 157926709 + Missense_Mutation SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr7:157926709G>A uc003wno.2 - 9 1337 c.1216C>T c.(1216-1218)CAC>TAC p.H406Y PTPRN2_uc003wnp.2_Missense_Mutation_p.H389Y|PTPRN2_uc003wnq.2_Missense_Mutation_p.H406Y|PTPRN2_uc003wnr.2_Missense_Mutation_p.H368Y|PTPRN2_uc011kwa.1_Missense_Mutation_p.H429Y NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 406 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CGAGACCCGTGGTCCTGCAGG 0.582 NA 13 42 0 0 0.020292 0 0 UNC5D 137970 broad.mit.edu 37 8 35624454 35624454 + Missense_Mutation SNP G G A rs112851152 TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr8:35624454G>A uc003xjr.1 + 15 2676 c.2348G>A c.(2347-2349)CGG>CAG p.R783Q UNC5D_uc003xjs.1_Missense_Mutation_p.R778Q|UNC5D_uc003xju.1_Missense_Mutation_p.R359Q NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 783 Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TGCAGTAACCGGCAGCCCCTG 0.587 NA 5 52 0 0 0.001168 0 0 ADAM18 8749 broad.mit.edu 37 8 39537627 39537627 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr8:39537627C>A uc003xni.2 + 16 1703 c.1703C>A c.(1702-1704)ACA>AAA p.T568K ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.T544K NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN a disintegrin and metalloprotease domain 18 568 Cys-rich.|Extracellular (Potential). cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1) 6 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) GCTCAATCTACAGTTTATTCA 0.398 NA 12 98 1.36491e-13 2.04033e-13 0.016723 1 0 ADAM2 2515 broad.mit.edu 37 8 39679167 39679167 + Nonsense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr8:39679167G>T uc003xnj.2 - 5 357 c.282C>A c.(280-282)TAC>TAA p.Y94* ADAM2_uc003xnk.2_Nonsense_Mutation_p.Y94*|ADAM2_uc011lck.1_Nonsense_Mutation_p.Y94*|ADAM2_uc003xnl.2_Nonsense_Mutation_p.Y94* NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 94 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TATACCCTTGGTAGTGGCAGA 0.299 NA 3 74 0.00024832 0.000283515 0.009096 1 0 ANK1 286 broad.mit.edu 37 8 41572528 41572528 + Missense_Mutation SNP A A T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr8:41572528A>T uc003xok.2 - 15 1751 c.1667T>A c.(1666-1668)CTG>CAG p.L556Q NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.L556Q|ANK1_uc003xoj.2_Missense_Mutation_p.L556Q|ANK1_uc003xol.2_Missense_Mutation_p.L556Q|ANK1_uc003xom.2_Missense_Mutation_p.L589Q NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 556 89 kDa domain.|ANK 16. 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) GTCCCGCTCCAGCAGCAGCTC 0.607 NA 7 71 0 0 0.00308 0 0 PREX2 80243 broad.mit.edu 37 8 68965476 68965476 + Missense_Mutation SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr8:68965476G>A uc003xxv.1 + 9 1115 c.1088G>A c.(1087-1089)CGG>CAG p.R363Q PREX2_uc003xxu.1_Missense_Mutation_p.R363Q|PREX2_uc011lez.1_Missense_Mutation_p.R298Q NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 363 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 AGAGAACGGCGGAAAGGTGGG 0.373 NA 11 134 0 0 0.010729 0 0 CSMD3 114788 broad.mit.edu 37 8 113323246 113323246 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr8:113323246C>A uc003ynu.2 - 50 8005 c.7846G>T c.(7846-7848)GGG>TGG p.G2616W CSMD3_uc003yns.2_Missense_Mutation_p.G1818W|CSMD3_uc003ynt.2_Missense_Mutation_p.G2576W|CSMD3_uc011lhx.1_Missense_Mutation_p.G2512W|CSMD3_uc003ynw.1_Missense_Mutation_p.G327W NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2616 Extracellular (Potential).|Sushi 14. 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 GCATGATACCCATAGGAAGAC 0.468 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 48 58 3.10996e-30 5.06679e-30 0.01441 1 0 CSMD3 114788 broad.mit.edu 37 8 113563023 113563023 + Missense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr8:113563023G>T uc003ynu.2 - 27 4600 c.4441C>A c.(4441-4443)CTT>ATT p.L1481I CSMD3_uc003yns.2_Missense_Mutation_p.L753I|CSMD3_uc003ynt.2_Missense_Mutation_p.L1441I|CSMD3_uc011lhx.1_Missense_Mutation_p.L1377I NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1481 Extracellular (Potential).|CUB 8. 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 TCCTTTAAAAGCATATCATTT 0.388 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 8 106 0.000157383 0.000181837 0.00308 1 0 COL22A1 169044 broad.mit.edu 37 8 139611019 139611019 + Silent SNP C C T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr8:139611019C>T uc003yvd.2 - 61 4755 c.4308G>A c.(4306-4308)GAG>GAA p.E1436E COL22A1_uc011ljo.1_Silent_p.E716E NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1436 Pro-rich.|Gly-rich.|Collagen-like 14. 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) CTGGTCCATTCTCCCCAGGTA 0.622 NA HNSCC(7;0.00092) 41 54 0 0 0.007835 0 0 TSNARE1 203062 broad.mit.edu 37 8 143427140 143427140 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr8:143427140C>A uc003ywk.2 - 3 320 c.202G>T c.(202-204)GCA>TCA p.A68S TSNARE1_uc011lju.1_Missense_Mutation_p.A68S|TSNARE1_uc003ywj.2_Missense_Mutation_p.A68S|TSNARE1_uc003ywl.3_Intron NM_145003 NP_659440 Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 68 vesicle-mediated transport integral to membrane 0 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GGCGTGCCTGCTGGCCCCAGA 0.622 NA 16 23 1.3612e-06 1.7015e-06 0.003163 1 0 ZC3H3 23144 broad.mit.edu 37 8 144621188 144621188 + Missense_Mutation SNP G G C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr8:144621188G>C uc003yyd.2 - 2 378 c.349C>G c.(349-351)CTC>GTC p.L117V NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 117 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding skin(1) 1 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) CCCTGACTGAGCTGGACCTGT 0.622 NA 5 124 0 0 0.014758 0 0 KIAA1432 57589 broad.mit.edu 37 9 5765728 5765728 + Missense_Mutation SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr9:5765728G>A uc003zji.2 + 20 2923 c.2830G>A c.(2830-2832)GAA>AAA p.E944K KIAA1432_uc003zjh.2_Missense_Mutation_p.E944K|KIAA1432_uc003zjl.3_Missense_Mutation_p.E907K|KIAA1432_uc003zjj.1_Missense_Mutation_p.E486K|ERMP1_uc011lme.1_RNA NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 1023 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) CCAGTCAGCTGAAAATGTTCC 0.398 NA 11 172 0 0 0.00499 0 0 FAM75A3 727830 broad.mit.edu 37 9 40702749 40702749 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr9:40702749C>A uc010mmj.2 + 4 435 c.406C>A c.(406-408)CAG>AAG p.Q136K NM_001083124 NP_001076593 Q5VYP0 F75A3_HUMAN hypothetical protein LOC727830 136 Pro-rich. integral to membrane ovary(2)|skin(1) 3 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TGGAGCCTCCCAGTCCTCTCA 0.602 NA 9 211 0.00010058 0.00011857 0.013537 1 0 Unknown 0 broad.mit.edu 37 9 90744703 90744703 + Silent SNP C C T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr9:90744703C>T uc011lti.1 - 4 3278 c.3249G>A c.(3247-3249)CAG>CAA p.Q1083Q uc004apx.1_5'Flank SubName: Full=cDNA FLJ59639; NA CTTGAAACTGCTGTCTTTGCT 0.522 NA 12 77 0 0 0.003163 0 0 SMC2 10592 broad.mit.edu 37 9 106901541 106901541 + Missense_Mutation SNP C C T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr9:106901541C>T uc004bbv.2 + 25 3827 c.3539C>T c.(3538-3540)TCA>TTA p.S1180L SMC2_uc004bbw.2_Missense_Mutation_p.S1180L|SMC2_uc011lvl.1_Missense_Mutation_p.S1180L|SMC2_uc004bbx.2_Missense_Mutation_p.S1180L|SMC2_uc004bby.2_RNA NM_001042551 NP_001036016 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 1180 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1) 9 GGAAAGATTTCAAAGGAAGCA 0.348 NA 7 42 0 0 0.00308 0 0 TLR4 7099 broad.mit.edu 37 9 120474988 120474988 + Missense_Mutation SNP C C G TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr9:120474988C>G uc004bjz.2 + 3 873 c.582C>G c.(580-582)GAC>GAG p.D194E TLR4_uc004bka.2_Missense_Mutation_p.D154E|TLR4_uc004bkb.2_5'UTR NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 194 Extracellular (Potential).|LRR 6. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 ATTGCACAGACTTGCGGGTTC 0.388 NA 21 62 0 0 0.014323 0 0 OR1J2 26740 broad.mit.edu 37 9 125273566 125273566 + Silent SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr9:125273566C>A uc004bmj.1 + 4 1341 c.486C>A c.(484-486)CTC>CTA p.L162L OR1J2_uc011lyv.1_Silent_p.L162L NM_054107 NP_473448 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, 162 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|pancreas(1)|breast(1) 5 ACACCCTTCTCCTGACCCGGC 0.527 NA 27 95 2.48779e-11 3.6073e-11 0.005443 1 0 ZNF79 7633 broad.mit.edu 37 9 130198191 130198191 + Silent SNP T T G TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr9:130198191T>G uc004bqw.3 + 4 651 c.237T>G c.(235-237)CTT>CTG p.L79L ZNF79_uc011maf.1_Silent_p.L55L|ZNF79_uc011mag.1_Silent_p.L55L NM_007135 NP_009066 Q15937 ZNF79_HUMAN zinc finger protein 79 79 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 GAATAGGACTTCCAGTTTCCC 0.507 NA 13 97 0 0 0.00499 0 0 CIZ1 25792 broad.mit.edu 37 9 130942800 130942800 + Nonsense_Mutation SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr9:130942800G>A uc004btt.2 - 7 848 c.685C>T c.(685-687)CAA>TAA p.Q229* CIZ1_uc004btr.2_Nonsense_Mutation_p.Q229*|CIZ1_uc004bts.2_Nonsense_Mutation_p.Q200*|CIZ1_uc011maq.1_Nonsense_Mutation_p.Q224*|CIZ1_uc004btu.2_Nonsense_Mutation_p.Q205*|CIZ1_uc011mar.1_Nonsense_Mutation_p.Q128*|CIZ1_uc011mas.1_Nonsense_Mutation_p.Q259*|CIZ1_uc004btw.2_Nonsense_Mutation_p.Q229*|CIZ1_uc004btv.2_Nonsense_Mutation_p.Q229*|CIZ1_uc004btx.2_Nonsense_Mutation_p.Q205* NM_001131016 NP_001124488 Q9ULV3 CIZ1_HUMAN CDKN1A interacting zinc finger protein 1 isoform 229 nucleus nucleic acid binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 GGTAAATCTTGGTCTGGAATG 0.582 NA 3 69 0 0 0.009096 0 0 SETX 23064 broad.mit.edu 37 9 135224674 135224674 + Missense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr9:135224674G>T uc004cbk.2 - 3 325 c.142C>A c.(142-144)CAC>AAC p.H48N NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 48 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) CTTGCTTTGTGGTACTCAGCC 0.438 NA 15 48 7.93312e-07 9.95933e-07 0.020292 1 0 TUBBP5 643224 broad.mit.edu 37 9 141071154 141071154 + Missense_Mutation SNP T T C rs150819761 by1000genomes TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr9:141071154T>C uc004com.2 + 4 818 c.557T>C c.(556-558)GTC>GCC p.V186A TUBBP5_uc010ncq.2_3'UTR RecName: Full=Putative tubulin beta-4q chain; 0 GTGAACATGGTCCCGTTTCCC 0.632 NA 8 43 0 0 0.008291 0 0 FRMPD4 9758 broad.mit.edu 37 X 12735649 12735649 + Missense_Mutation SNP G G C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chrX:12735649G>C uc004cuz.1 + 16 3210 c.2704G>C c.(2704-2706)GAG>CAG p.E902Q FRMPD4_uc011mij.1_Missense_Mutation_p.E894Q NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 902 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 TTATAGTCCTGAGTCTTCGTC 0.453 NA 4 119 0 0 0.009096 0 0 GPR64 10149 broad.mit.edu 37 X 19031921 19031921 + Missense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chrX:19031921G>T uc004cyx.2 - 16 1146 c.982C>A c.(982-984)CCT>ACT p.P328T GPR64_uc004cyy.2_Missense_Mutation_p.P325T|GPR64_uc004cyz.2_Missense_Mutation_p.P314T|GPR64_uc004czb.2_Missense_Mutation_p.P328T|GPR64_uc004czc.2_Missense_Mutation_p.P312T|GPR64_uc004czd.2_Missense_Mutation_p.P304T|GPR64_uc004cze.2_Missense_Mutation_p.P298T|GPR64_uc004czf.2_Missense_Mutation_p.P290T|GPR64_uc004cza.2_Missense_Mutation_p.P306T|GPR64_uc004cyw.2_Missense_Mutation_p.P312T|GPR64_uc010nfj.2_Missense_Mutation_p.P298T NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 isoform 1 328 Extracellular (Potential). neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity 0 Hepatocellular(33;0.183) TGGGGCATAGGGGAAGAGATC 0.572 NA 6 127 8.12818e-05 9.66055e-05 0.001984 1 0 USP9X 8239 broad.mit.edu 37 X 41029762 41029762 + Missense_Mutation SNP C C T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chrX:41029762C>T uc004dfb.2 + 20 3550 c.2917C>T c.(2917-2919)CCT>TCT p.P973S USP9X_uc004dfc.2_Missense_Mutation_p.P973S NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 973 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 TTCCAATATGCCTTCAAGCCC 0.363 Ovarian(172;1807 2695 35459 49286) NA 4 66 0 0 0.014758 0 0 ITIH5L 347365 broad.mit.edu 37 X 54783839 54783839 + Missense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chrX:54783839G>T uc004dtj.2 - 8 2698 c.2668C>A c.(2668-2670)CCT>ACT p.P890T NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 890 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 GGTCTGTCAGGTCTAGGAGGT 0.522 NA 20 69 1.15919e-05 1.41245e-05 0.008871 1 0 VSIG4 11326 broad.mit.edu 37 X 65252505 65252505 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chrX:65252505C>A uc004dwh.2 - 3 626 c.499G>T c.(499-501)GCT>TCT p.A167S VSIG4_uc004dwi.2_Intron|VSIG4_uc010nkq.1_Missense_Mutation_p.A167S|VSIG4_uc004dwj.2_Missense_Mutation_p.A167S|VSIG4_uc011moy.1_Intron|VSIG4_uc004dwk.2_Missense_Mutation_p.A167S|VSIG4_uc004dwl.2_Missense_Mutation_p.A63S NM_007268 NP_009199 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 167 Ig-like 2.|Extracellular (Potential). complement activation, alternative pathway integral to membrane protein binding 0 GAACCCCGAGCCTGGCATTGA 0.488 NA 3 37 0.004672 0.00503673 0.004672 1 0 ATRX 546 broad.mit.edu 37 X 76875878 76875878 + Missense_Mutation SNP T T C TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chrX:76875878T>C uc004ecp.3 - 20 5489 c.5257A>G c.(5257-5259)AAT>GAT p.N1753D ATRX_uc004ecq.3_Missense_Mutation_p.N1715D|ATRX_uc004eco.3_Missense_Mutation_p.N1538D NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1753 Helicase ATP-binding. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) ATTAGGTTATTTTGAAGTGGT 0.318 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 24 43 0 0 0.00632 0 0 TAF9B 51616 broad.mit.edu 37 X 77395088 77395088 + Silent SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chrX:77395088C>A uc004eda.2 - 1 92 c.21G>T c.(19-21)GCG>GCT p.A7A NM_015975 NP_057059 Q9HBM6 TAF9B_HUMAN transcription associated factor 9B 7 negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding 0 TCTTGGGAGGCGCCATCTTGC 0.657 NA 5 88 0.000602214 0.000676908 0.014758 1 0 POF1B 79983 broad.mit.edu 37 X 84600895 84600895 + Missense_Mutation SNP G G T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chrX:84600895G>T uc004eer.2 - 6 840 c.694C>A c.(694-696)CAT>AAT p.H232N POF1B_uc004ees.2_Missense_Mutation_p.H232N NM_024921 NP_079197 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 232 actin binding 0 GATCCACTATGGCACAGTTCA 0.408 NA 9 127 1.11149e-13 1.67012e-13 0.008291 1 0 PCDH11X 27328 broad.mit.edu 37 X 91090841 91090841 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chrX:91090841C>A uc004efk.1 + 1 1183 c.338C>A c.(337-339)GCC>GAC p.A113D PCDH11X_uc004efl.1_Missense_Mutation_p.A113D|PCDH11X_uc004efo.1_Missense_Mutation_p.A113D|PCDH11X_uc010nmv.1_Missense_Mutation_p.A113D|PCDH11X_uc004efm.1_Missense_Mutation_p.A113D|PCDH11X_uc004efn.1_Missense_Mutation_p.A113D|PCDH11X_uc004efh.1_Missense_Mutation_p.A113D|PCDH11X_uc004efj.1_Missense_Mutation_p.A113D NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 113 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 GTGGAGGTTGCCATTTTGCCG 0.398 NSCLC(38;925 1092 2571 38200 45895) NA 23 98 2.81731e-10 3.90919e-10 0.010818 1 0 PCDH19 57526 broad.mit.edu 37 X 99663168 99663168 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chrX:99663168C>A uc010nmz.2 - 1 2104 c.428G>T c.(427-429)AGC>ATC p.S143I PCDH19_uc004efw.3_Missense_Mutation_p.S143I|PCDH19_uc004efx.3_Missense_Mutation_p.S143I NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 143 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 CGTGCCAGGGCTGGCTGCCTC 0.592 NA 5 78 8.12818e-05 9.66055e-05 0.001984 1 0 SYTL4 94121 broad.mit.edu 37 X 99955913 99955913 + Missense_Mutation SNP C C G TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chrX:99955913C>G uc004egd.3 - 7 875 c.519G>C c.(517-519)CAG>CAC p.Q173H SYTL4_uc010nnc.2_Missense_Mutation_p.Q173H|SYTL4_uc004ege.3_Missense_Mutation_p.Q173H|SYTL4_uc004egf.3_Missense_Mutation_p.Q173H|SYTL4_uc004egg.3_Missense_Mutation_p.Q173H NM_080737 NP_542775 Q96C24 SYTL4_HUMAN synaptotagmin-like 4 173 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) TCTGCCGCTCCTGAATGATCT 0.378 NA 8 137 0 0 0.004482 0 0 NGFRAP1 27018 broad.mit.edu 37 X 102632569 102632569 + Silent SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chrX:102632569C>A uc004eki.2 + 3 532 c.150C>A c.(148-150)GCC>GCA p.A50A NGFRAP1_uc004ekh.2_Silent_p.A40A|NGFRAP1_uc004ekj.1_Silent_p.A50A NM_206915 NP_996798 Q00994 BEX3_HUMAN nerve growth factor receptor (TNFRSF16) 50 apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway cytosol|nucleus caspase regulator activity|metal ion binding 0 TTCGATGGGCCATACCCAATA 0.517 NA 10 215 3.07112e-06 3.82242e-06 0.010729 1 0 ESX1 80712 broad.mit.edu 37 X 103495442 103495442 + Missense_Mutation SNP C C T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chrX:103495442C>T uc004ely.2 - 4 746 c.688G>A c.(688-690)GAT>AAT p.D230N NM_153448 NP_703149 Q8N693 ESX1_HUMAN extraembryonic, spermatogenesis, homeobox 230 negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 AAAGCAGGATCCAGAGCAGGA 0.413 Pancreas(200;1705 2227 25194 28471 45274) NA 11 124 0 0 0.010729 0 0 IRS4 8471 broad.mit.edu 37 X 107978288 107978288 + Silent SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chrX:107978288C>A uc004eoc.2 - 1 1320 c.1287G>T c.(1285-1287)CCG>CCT p.P429P NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 429 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 AAAAGCTGGCCGGCACTGAAA 0.637 NA 10 70 1.76689e-08 2.35045e-08 0.006214 1 0 LUZP4 51213 broad.mit.edu 37 X 114536683 114536683 + Missense_Mutation SNP G G A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chrX:114536683G>A uc004eqa.2 + 2 252 c.218G>A c.(217-219)CGG>CAG p.R73Q LUZP4_uc004eqb.2_Missense_Mutation_p.G31R NM_016383 NP_057467 Q9P127 LUZP4_HUMAN leucine zipper protein 4 73 nucleus ovary(2) 2 CATCGCCATCGGAGAGGTAAA 0.348 NA 19 152 0 0 0.008871 0 0 VGLL1 51442 broad.mit.edu 37 X 135631167 135631167 + Missense_Mutation SNP T T A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chrX:135631167T>A uc004ezy.2 + 3 804 c.634T>A c.(634-636)TAT>AAT p.Y212N MIR934_hsa-mir-934|MI0005756_5'Flank NM_016267 NP_057351 Q99990 VGLL1_HUMAN vestigial like 1 212 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus transcription coactivator activity 0 Acute lymphoblastic leukemia(192;0.000127) CTCAGTTCACTGTAAGGAAAT 0.547 NA 5 47 0 0 0.001168 0 0 CXorf66 347487 broad.mit.edu 37 X 139038879 139038879 + Missense_Mutation SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chrX:139038879C>A uc004fbb.2 - 3 284 c.262G>T c.(262-264)GCA>TCA p.A88S NM_001013403 NP_001013421 Q5JRM2 CX066_HUMAN hypothetical protein LOC347487 precursor 88 Cytoplasmic (Potential). integral to membrane 0 GACTTGGCTGCTATGCCTTTT 0.388 NA 5 128 5.9392e-07 7.55425e-07 0.001168 1 0 GABRQ 55879 broad.mit.edu 37 X 151821552 151821552 + Silent SNP C C A TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chrX:151821552C>A uc004ffp.1 + 9 1727 c.1707C>A c.(1705-1707)GGC>GGA p.G569G NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta 569 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) TGGCCCATGGCCAAGAGAAGG 0.498 NA 6 48 0.00116845 0.00128352 0.001168 1 0 HMCN1 83872 broad.mit.edu 37 1 186106738 186106739 + Frame_Shift_Ins INS - - T TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr1:186106738_186106739insT uc001grq.1 + 88 13920_13921 c.13691_13692insT c.(13690-13692)GGTfs p.G4564fs HMCN1_uc001grs.1_Frame_Shift_Ins_p.G133fs NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4564 TSP type-1 1. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CCAGCCAATGGTGGGAAGCCCT 0.485 NA 8 52 --- --- --- --- NA NA NA NA NA DNA2 1763 broad.mit.edu 37 10 70191626 70191644 + Frame_Shift_Del DEL CATATCGTAGTTGTTTTTC CATATCGTAGTTGTTTTTC - rs61855090 by1000genomes TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 CATATCGTAGTTGTTTTTC CATATCGTAGTTGTTTTTC - - CATATCGTAGTTGTTTTTC CATATCGTAGTTGTTTTTC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr10:70191626_70191644delCATATCGTAGTTGTTTTTC uc001jof.2 - 13 2216_2234 c.2216_2234delGAAAAACAACTACGATATG c.(2215-2235)GGAAAAACAACTACGATATGTfs p.G739fs DNA2_uc001jog.1_Frame_Shift_Del_p.G653fs|DNA2_uc001joh.1_RNA NM_001080449 NP_001073918 P51530 DNA2L_HUMAN DNA replication helicase 2 homolog 653_659 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base 0 TACGAGAGTACATATCGTAGTTGTTTTTCCTGTCCCAGG 0.37 NA 10 166 --- --- --- --- NA NA NA NA NA MUC6 4588 broad.mit.edu 37 11 1027368 1027368 + Frame_Shift_Del DEL G G - TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr11:1027368delG uc001lsw.2 - 17 2182 c.2131delC c.(2131-2133)CAAfs p.Q711fs NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 711 maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TCGCCCTTTTGGTTCAGGTAG 0.632 NA 42 126 --- --- --- --- NA NA NA NA NA CWC25 54883 broad.mit.edu 37 17 36981429 36981429 + Frame_Shift_Del DEL C C - TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr17:36981429delC uc002hqu.2 - 1 161 c.8delG c.(7-9)GGCfs p.G3fs CWC25_uc010wdv.1_5'UTR|CWC25_uc010wdx.1_Intron NM_017748 NP_060218 Q9NXE8 CWC25_HUMAN coiled-coil domain containing 49 3 0 CAGGTCTCCGCCCCCCATGAC 0.607 NA 2 4 --- --- --- --- NA NA NA NA NA GALNTL2 117248 broad.mit.edu 37 3 16250019 16250019 + Frame_Shift_Del DEL G G - TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr3:16250019delG uc003car.3 + 4 1396 c.921delG c.(919-921)GTGfs p.V307fs GALNTL2_uc003caq.3_Frame_Shift_Del_p.V40fs NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 307 Lumenal (Potential). Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1) 1 GGAGCCGAGTGGTATCTCCGG 0.433 NA 13 259 --- --- --- --- NA NA NA NA NA TRRAP 8295 broad.mit.edu 37 7 98498314 98498314 + Frame_Shift_Del DEL T T - TCGA-44-6147-01A-11D-1753-08 TCGA-44-6147-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b6daa70-492e-4283-b3d2-b26f4e26a8d4 3ca8208a-ca5b-45e8-968d-9f47b6201fd1 g.chr7:98498314delT uc003upp.2 + 11 1077 c.868delT c.(868-870)TTTfs p.F290fs TRRAP_uc011kis.1_Frame_Shift_Del_p.F290fs|TRRAP_uc003upr.2_5'UTR NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 290 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) AACATTGTCATTTTTAGCTTA 0.254 NA 36 139 --- --- --- --- NA NA NA NA NA