Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter PRDM16 63976 broad.mit.edu 37 1 3322187 3322187 + Silent SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:3322187C>A uc001akf.2 + 8 1241 c.1161C>A c.(1159-1161)ATC>ATA p.I387I PRDM16_uc001akc.2_Silent_p.I387I|PRDM16_uc001akd.2_Silent_p.I387I|PRDM16_uc001ake.2_Silent_p.I387I|PRDM16_uc009vlh.2_Silent_p.I88I NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 387 C2H2-type 5. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) ACAAGCATATCCACAGCACGG 0.697 T EVI1 MDS|AML 34 41 --- --- --- --- PASS PRDM16 63976 broad.mit.edu 37 1 3342715 3342715 + Missense_Mutation SNP C G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:3342715C>G uc001akf.2 + 14 3290 c.3210C>G c.(3208-3210)GAC>GAG p.D1070E PRDM16_uc001akc.2_Missense_Mutation_p.D1069E|PRDM16_uc001akd.2_Missense_Mutation_p.D1069E|PRDM16_uc001ake.2_Missense_Mutation_p.D1070E|PRDM16_uc009vlh.2_Missense_Mutation_p.D770E NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 1070 Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) AGAAAGAAGACTCTTATTTCT 0.522 T EVI1 MDS|AML 4 62 --- --- --- --- PASS ESPN 83715 broad.mit.edu 37 1 6512037 6512037 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:6512037G>T uc001amy.2 + 10 2374 c.2206G>T c.(2206-2208)GTG>TTG p.V736L ESPN_uc001amz.2_Missense_Mutation_p.V170L NM_031475 NP_113663 B1AK53 ESPN_HUMAN espin 736 sensory perception of sound brush border|cytoplasm|filamentous actin|stereocilium actin filament binding|SH3 domain binding 0 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392) Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419) GCAGCTGGACGTGGAGGCTCT 0.667 7 7 --- --- --- --- PASS FUCA1 2517 broad.mit.edu 37 1 24189745 24189745 + Missense_Mutation SNP G C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:24189745G>C uc001bie.2 - 3 586 c.541C>G c.(541-543)CTA>GTA p.L181V FUCA1_uc009vqt.1_RNA|FUCA1_uc010oed.1_RNA NM_000147 NP_000138 P04066 FUCO_HUMAN fucosidase, alpha-L-1, tissue precursor 181 fucose metabolic process|glycosaminoglycan catabolic process lysosome alpha-L-fucosidase activity|cation binding breast(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144) GAGTGGTATAGTCCATAGCGG 0.343 5 26 --- --- --- --- PASS IL22RA1 58985 broad.mit.edu 37 1 24460774 24460774 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:24460774C>A uc001biq.1 - 4 497 c.458G>T c.(457-459)CGG>CTG p.R153L IL22RA1_uc010oeg.1_Missense_Mutation_p.R45L|IL22RA1_uc009vrb.1_Missense_Mutation_p.R17L|IL22RA1_uc010oeh.1_Missense_Mutation_p.R153L NM_021258 NP_067081 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 precursor 153 Extracellular (Potential).|Fibronectin type-III 2. integral to membrane interferon receptor activity skin(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|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;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) CAGGGTTAGCCGGTGGCCATC 0.522 23 14 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39801940 39801940 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:39801940C>T uc010oiu.1 + 1 5131 c.5000C>T c.(4999-5001)TCT>TTT p.S1667F MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 3232 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ACTCTCAAATCTGAAATAGCA 0.398 18 21 --- --- --- --- PASS RAB3B 5865 broad.mit.edu 37 1 52399038 52399038 + Nonsense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:52399038C>A uc001cth.2 - 4 549 c.424G>T c.(424-426)GAG>TAG p.E142* NM_002867 NP_002858 P20337 RAB3B_HUMAN RAB3B, member RAS oncogene family 142 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity ovary(1) 1 ACAACCCTCTCTTCCTCCATG 0.463 26 35 --- --- --- --- PASS ANKRD13C 81573 broad.mit.edu 37 1 70790558 70790558 + Missense_Mutation SNP G C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:70790558G>C uc001dex.3 - 3 881 c.555C>G c.(553-555)ATC>ATG p.I185M ANKRD13C_uc009wbk.2_Intron NM_030816 NP_110443 Q8N6S4 AN13C_HUMAN ankyrin repeat domain 13C 185 ANK 3. protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process endoplasmic reticulum membrane|perinuclear region of cytoplasm receptor binding 0 CTCCATAGCTGATGGCTTCCG 0.378 5 85 --- --- --- --- PASS TTLL7 79739 broad.mit.edu 37 1 84348776 84348776 + Missense_Mutation SNP T A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:84348776T>A uc001djc.2 - 20 2809 c.2413A>T c.(2413-2415)ACT>TCT p.T805S TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 805 cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity ovary(1) 1 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) TGCAAAGGAGTCACCACCTCC 0.453 41 48 --- --- --- --- PASS TTLL7 79739 broad.mit.edu 37 1 84417877 84417877 + Silent SNP T C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:84417877T>C uc001djc.2 - 2 414 c.18A>G c.(16-18)CAA>CAG p.Q6Q TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 6 cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity ovary(1) 1 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) TACCTCCTTCTTGAGGCAGAG 0.358 27 25 --- --- --- --- PASS CCBL2 56267 broad.mit.edu 37 1 89414823 89414823 + Silent SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:89414823G>A uc001dmp.2 - 11 1469 c.1092C>T c.(1090-1092)CCC>CCT p.P364P CCBL2_uc001dmq.2_Silent_p.P330P|CCBL2_uc001dmr.2_Silent_p.P200P NM_001008661 NP_001008661 Q6YP21 KAT3_HUMAN kynurenine aminotransferase III isoform 1 364 biosynthetic process|kynurenine metabolic process|tryptophan catabolic process cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding ovary(1) 1 Lung NSC(277;0.123) all cancers(265;0.0117)|Epithelial(280;0.0341) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CAGGAACTATGGGTTTTAGGC 0.368 29 16 --- --- --- --- PASS MTF2 22823 broad.mit.edu 37 1 93599277 93599277 + Missense_Mutation SNP T C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:93599277T>C uc009wdj.2 + 12 1470 c.1178T>C c.(1177-1179)ATA>ACA p.I393T MTF2_uc010oth.1_Missense_Mutation_p.I291T|MTF2_uc009wdk.2_Missense_Mutation_p.I336T|MTF2_uc001dpi.3_Missense_Mutation_p.I120T|MTF2_uc010oti.1_Missense_Mutation_p.I291T|MTF2_uc001dpj.3_Missense_Mutation_p.I291T|MTF2_uc001dpl.3_Missense_Mutation_p.I291T|MTF2_uc001dpm.3_Missense_Mutation_p.I62T NM_007358 NP_031384 Q9Y483 MTF2_HUMAN metal response element binding transcription 393 nucleus DNA binding|zinc ion binding ovary(2) 2 all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886) AGCAATGGCATAGAAAAAAAA 0.343 17 26 --- --- --- --- PASS SYT6 148281 broad.mit.edu 37 1 114641783 114641783 + Missense_Mutation SNP T C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:114641783T>C uc001eev.2 - 5 1292 c.1042A>G c.(1042-1044)ATC>GTC p.I348V SYT6_uc001eeu.2_5'UTR NM_205848 NP_995320 Q5T7P8 SYT6_HUMAN synaptotagmin VI 433 Cytoplasmic (Potential).|C2 2. acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATGTCAAAGATGATGGCCTCA 0.463 64 110 --- --- --- --- PASS ZNF687 57592 broad.mit.edu 37 1 151260589 151260589 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:151260589G>T uc001exq.2 + 2 1920 c.1822G>T c.(1822-1824)GTG>TTG p.V608L ZNF687_uc001exp.1_Missense_Mutation_p.V617L|ZNF687_uc009wmo.2_Missense_Mutation_p.V608L|ZNF687_uc009wmp.2_Missense_Mutation_p.V608L NM_020832 NP_065883 Q8N1G0 ZN687_HUMAN zinc finger protein 687 608 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding central_nervous_system(3)|ovary(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TGACCAGATGGTGGGGCAGCC 0.612 4 79 --- --- --- --- PASS IL6R 3570 broad.mit.edu 37 1 154427045 154427045 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:154427045C>T uc001fez.1 + 9 1585 c.1148C>T c.(1147-1149)GCC>GTC p.A383V IL6R_uc001ffa.1_Intron NM_000565 NP_000556 P08887 IL6RA_HUMAN interleukin 6 receptor isoform 1 precursor 383 Helical; (Potential). acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity ovary(3)|breast(1) 4 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CTCTGCATTGCCATTGTTCTG 0.463 6 43 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158585049 158585049 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:158585049C>A uc001fst.1 - 48 6944 c.6745G>T c.(6745-6747)GGG>TGG p.G2249W NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2249 Spectrin 21. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) ATCCGCAACCCAAGCTGGTAG 0.542 79 152 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158609783 158609783 + Missense_Mutation SNP C G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:158609783C>G uc001fst.1 - 34 4951 c.4752G>C c.(4750-4752)CAG>CAC p.Q1584H NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1584 Spectrin 15. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GTTCCTTCAGCTGTTCCAGTT 0.483 42 96 --- --- --- --- PASS OR6N2 81442 broad.mit.edu 37 1 158746513 158746513 + Missense_Mutation SNP T C C rs140258151 TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:158746513T>C uc010pir.1 - 1 913 c.913A>G c.(913-915)ATC>GTC p.I305V NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, 305 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(112;0.0378) TTCTGGAAGATGGTCCTCTTG 0.383 5 134 --- --- --- --- PASS DUSP27 92235 broad.mit.edu 37 1 167097663 167097663 + Nonsense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:167097663G>T uc001geb.1 + 5 3295 c.3295G>T c.(3295-3297)GGA>TGA p.G1099* NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 1099 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 TGAAGAAGAGGGAGAGAAAGA 0.498 18 42 --- --- --- --- PASS ZNF648 127665 broad.mit.edu 37 1 182026397 182026397 + Missense_Mutation SNP T C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:182026397T>C uc001goz.2 - 2 957 c.749A>G c.(748-750)TAC>TGC p.Y250C NM_001009992 NP_001009992 Q5T619 ZN648_HUMAN zinc finger protein 648 250 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CAGGCACCTGTAGGGACGCGC 0.731 4 7 --- --- --- --- PASS GLT25D2 23127 broad.mit.edu 37 1 183933096 183933096 + Silent SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:183933096C>T uc001gqr.2 - 6 1263 c.891G>A c.(889-891)AAG>AAA p.K297K GLT25D2_uc010poj.1_Silent_p.K297K|GLT25D2_uc001gqq.2_Silent_p.K34K|GLT25D2_uc001gqs.2_Silent_p.K177K NM_015101 NP_055916 Q8IYK4 GT252_HUMAN glycosyltransferase 25 domain containing 2 297 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity ovary(1)|breast(1) 2 TCTGATGGGGCTTCAGGGGGA 0.527 6 90 --- --- --- --- PASS CFHR4 10877 broad.mit.edu 37 1 196883696 196883696 + Missense_Mutation SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:196883696A>T uc001gto.2 + 4 580 c.511A>T c.(511-513)ACA>TCA p.T171S CFHR4_uc009wyy.2_Missense_Mutation_p.T417S|CFHR4_uc001gtp.2_Missense_Mutation_p.T418S NM_006684 NP_006675 Q92496 FHR4_HUMAN complement factor H-related 4 precursor 171 Sushi 3. extracellular region lipid transporter activity ovary(1)|pancreas(1)|skin(1) 3 GCTCCATGACACATTGGACTA 0.408 32 62 --- --- --- --- PASS NR5A2 2494 broad.mit.edu 37 1 200143295 200143295 + Missense_Mutation SNP A G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:200143295A>G uc001gvb.2 + 8 1789 c.1583A>G c.(1582-1584)TAT>TGT p.Y528C NR5A2_uc001gvc.2_Missense_Mutation_p.Y482C|NR5A2_uc009wzh.2_Missense_Mutation_p.Y488C|NR5A2_uc010pph.1_Missense_Mutation_p.Y456C NM_205860 NP_995582 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 528 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Prostate(682;0.19) GATGTGCCCTATAATAACCTT 0.458 25 44 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216373167 216373167 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:216373167C>A uc001hku.1 - 17 4000 c.3613G>T c.(3613-3615)GCT>TCT p.A1205S USH2A_uc001hkv.2_Missense_Mutation_p.A1205S NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1205 Extracellular (Potential).|Fibronectin type-III 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CAGATGGTAGCTGAGGTTTCA 0.473 HNSCC(13;0.011) 39 87 --- --- --- --- PASS TAF1A 9015 broad.mit.edu 37 1 222742979 222742979 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:222742979G>T uc009xdz.1 - 7 956 c.767C>A c.(766-768)GCC>GAC p.A256D TAF1A_uc001hni.1_Missense_Mutation_p.A142D|TAF1A_uc001hnj.2_Missense_Mutation_p.A256D|TAF1A_uc001hnk.2_Missense_Mutation_p.A142D|TAF1A_uc010pur.1_Missense_Mutation_p.A256D NM_139352 NP_647603 Q15573 TAF1A_HUMAN TBP-associated factor 1A isoform 2 256 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter RNA polymerase I transcription factor complex DNA binding 0 GBM - Glioblastoma multiforme(131;0.0186) TACCTCTTGGGCTCCATCTCG 0.353 27 43 --- --- --- --- PASS RGS7 6000 broad.mit.edu 37 1 240990468 240990468 + Missense_Mutation SNP C G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:240990468C>G uc001hyv.2 - 10 944 c.614G>C c.(613-615)GGA>GCA p.G205A RGS7_uc010pyh.1_Missense_Mutation_p.G179A|RGS7_uc010pyj.1_Missense_Mutation_p.G121A|RGS7_uc001hyu.2_Missense_Mutation_p.G205A|RGS7_uc009xgn.1_Missense_Mutation_p.G152A|RGS7_uc001hyw.2_Missense_Mutation_p.G205A|RGS7_uc001hyt.2_Missense_Mutation_p.G37A NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 205 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) ATTTACACATCCAGGCTGGGA 0.433 4 73 --- --- --- --- PASS OPN3 23596 broad.mit.edu 37 1 241767615 241767615 + Missense_Mutation SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:241767615G>A uc001hza.2 - 2 785 c.640C>T c.(640-642)CCC>TCC p.P214S OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron NM_014322 NP_055137 Q9H1Y3 OPN3_HUMAN opsin 3 214 Helical; Name=5; (Potential). phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception integral to plasma membrane G-protein coupled photoreceptor activity 0 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) ACACCCAGGGGCACCACCAGG 0.512 22 64 --- --- --- --- PASS CEP170 9859 broad.mit.edu 37 1 243333015 243333015 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:243333015C>A uc001hzs.2 - 12 2166 c.1758G>T c.(1756-1758)CAG>CAT p.Q586H CEP170_uc001hzt.2_Missense_Mutation_p.Q488H|CEP170_uc001hzu.2_Missense_Mutation_p.Q488H NM_014812 NP_055627 Q5SW79 CE170_HUMAN centrosomal protein 170kDa isoform alpha 586 centriole|microtubule|spindle ovary(1)|haematopoietic_and_lymphoid_tissue(1) 2 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) AACTAGCCCACTGTGAAACCC 0.388 26 34 --- --- --- --- PASS C1orf100 200159 broad.mit.edu 37 1 244541905 244541905 + Missense_Mutation SNP T A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:244541905T>A uc001iah.2 + 4 402 c.289T>A c.(289-291)TAC>AAC p.Y97N C1orf100_uc001iai.2_Missense_Mutation_p.Y65N NM_001012970 NP_001012988 Q5SVJ3 CA100_HUMAN hypothetical protein LOC200159 97 0 all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103) all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984) AGAAACCACTTACCGACGAGA 0.423 27 72 --- --- --- --- PASS OR2C3 81472 broad.mit.edu 37 1 247695001 247695001 + Silent SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:247695001C>T uc009xgy.2 - 2 1175 c.813G>A c.(811-813)CAG>CAA p.Q271Q C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank NM_198074 NP_932340 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, 271 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) TGAACTTGCCCTGCTCATGGG 0.537 17 64 --- --- --- --- PASS OR14A16 284532 broad.mit.edu 37 1 247978866 247978866 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:247978866G>T uc001idm.1 - 1 166 c.166C>A c.(166-168)CCC>ACC p.P56T NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, 56 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AAATACACGGGGGTGTGGAGA 0.408 18 37 --- --- --- --- PASS OR2L13 284521 broad.mit.edu 37 1 248263011 248263011 + Missense_Mutation SNP T A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:248263011T>A uc001ids.2 + 3 671 c.334T>A c.(334-336)TTA>ATA p.L112I NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 112 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) TTCTGAAGGCTTACTCCTGAC 0.498 114 241 --- --- --- --- PASS OR2T2 401992 broad.mit.edu 37 1 248616170 248616170 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:248616170C>A uc001iek.1 + 1 72 c.72C>A c.(70-72)TTC>TTA p.F24L NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, 24 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATCCTGCCTTCCCCGGGCTTC 0.527 113 273 --- --- --- --- PASS OR2G6 391211 broad.mit.edu 37 1 248685254 248685254 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:248685254G>T uc001ien.1 + 1 307 c.307G>T c.(307-309)GTG>TTG p.V103L NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 103 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCAGCTCTATGTGGCCATGGG 0.532 83 104 --- --- --- --- PASS SH3BP5L 80851 broad.mit.edu 37 1 249106314 249106314 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr1:249106314C>A uc001iew.1 - 7 1519 c.967G>T c.(967-969)GGG>TGG p.G323W SH3BP5L_uc010pzp.1_Missense_Mutation_p.G216W|SH3BP5L_uc010pzq.1_Missense_Mutation_p.G291W|SH3BP5L_uc001iev.1_Missense_Mutation_p.G204W NM_030645 NP_085148 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like 323 0 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) GGGCCGGGCCCCAGGCTGCTG 0.716 43 52 --- --- --- --- PASS SOX11 6664 broad.mit.edu 37 2 5832877 5832877 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:5832877G>T uc002qyj.2 + 1 79 c.24G>T c.(22-24)TTG>TTT p.L8F NM_003108 NP_003099 P35716 SOX11_HUMAN SRY-box 11 8 cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis cytoplasm|nucleolus enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding central_nervous_system(3) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) OV - Ovarian serous cystadenocarcinoma(76;0.132) CGGAGAGCTTGGAAGCGGAGA 0.701 14 13 --- --- --- --- PASS NBAS 51594 broad.mit.edu 37 2 15542399 15542399 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:15542399C>A uc002rcc.1 - 26 2990 c.2964G>T c.(2962-2964)CAG>CAT p.Q988H NBAS_uc010exl.1_Missense_Mutation_p.Q60H|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 988 ovary(2)|liver(1)|skin(1) 4 TCAGTTGGTCCTGATCAGGAA 0.368 14 53 --- --- --- --- PASS NCOA1 8648 broad.mit.edu 37 2 24949570 24949570 + Silent SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:24949570A>T uc002rfk.2 + 13 2970 c.2712A>T c.(2710-2712)TCA>TCT p.S904S NCOA1_uc010eye.2_Silent_p.S904S|NCOA1_uc002rfi.2_Silent_p.S753S|NCOA1_uc002rfj.2_Silent_p.S904S|NCOA1_uc002rfl.2_Silent_p.S904S NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 904 Interaction with CREBBP. PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGAGTAAATCAGAAGAGTAAG 0.333 T PAX3 alveolar rhadomyosarcoma 18 22 --- --- --- --- PASS CCDC121 79635 broad.mit.edu 37 2 27850564 27850564 + Missense_Mutation SNP C G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:27850564C>G uc002rle.2 - 2 284 c.103G>C c.(103-105)GAA>CAA p.E35Q ZNF512_uc010yly.1_Intron|CCDC121_uc010eze.2_Missense_Mutation_p.E199Q|CCDC121_uc002rld.2_Missense_Mutation_p.E197Q|GPN1_uc010ezf.2_5'Flank|GPN1_uc010yma.1_5'Flank|GPN1_uc010ymb.1_5'Flank|GPN1_uc010ymc.1_5'Flank|GPN1_uc010ymd.1_5'Flank|GPN1_uc010yme.1_5'Flank|GPN1_uc010ezg.1_5'Flank NM_024584 NP_078860 Q6ZUS5 CC121_HUMAN coiled-coil domain containing 121 isoform 3 35 0 Acute lymphoblastic leukemia(172;0.155) AATCTGTTTTCAGCCTGGACA 0.428 79 191 --- --- --- --- PASS NRXN1 9378 broad.mit.edu 37 2 50758548 50758548 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:50758548C>A uc010fbq.2 - 11 3761 c.2284G>T c.(2284-2286)GAT>TAT p.D762Y NRXN1_uc002rxb.3_Missense_Mutation_p.D394Y|NRXN1_uc002rxe.3_Missense_Mutation_p.D722Y|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:Variant_position_missing_in_P58400_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ATGCTCCCATCATAGCTCAAA 0.413 13 21 --- --- --- --- PASS COMMD1 150684 broad.mit.edu 37 2 62227991 62227991 + Silent SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:62227991G>A uc002sbp.2 + 2 347 c.336G>A c.(334-336)CAG>CAA p.Q112Q COMMD1_uc002sbq.1_RNA NM_152516 NP_689729 Q8N668 COMD1_HUMAN MURR1 112 copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus copper ion binding|protein homodimerization activity ovary(1) 1 Lung NSC(7;0.035)|all_lung(7;0.0691) LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934) TCATGAACCAGAGCCGCTGGA 0.498 8 73 --- --- --- --- PASS PCYOX1 51449 broad.mit.edu 37 2 70486501 70486501 + Missense_Mutation SNP G C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:70486501G>C uc002sgn.3 + 2 188 c.122G>C c.(121-123)GGA>GCA p.G41A PCYOX1_uc010fdo.2_5'UTR|PCYOX1_uc010yqu.1_Missense_Mutation_p.G41A NM_016297 NP_057381 Q9UHG3 PCYOX_HUMAN prenylcysteine oxidase 1 precursor 41 prenylated protein catabolic process lysosome|very-low-density lipoprotein particle prenylcysteine oxidase activity central_nervous_system(1) 1 GCGATTATTGGAGCCGGAATT 0.438 16 295 --- --- --- --- PASS NAGK 55577 broad.mit.edu 37 2 71305575 71305575 + Silent SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:71305575G>A uc002shp.3 + 10 1378 c.972G>A c.(970-972)GGG>GGA p.G324G NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_Silent_p.G175G|NAGK_uc002shr.2_Silent_p.G273G NM_017567 NP_060037 Q9UJ70 NAGK_HUMAN N-Acetylglucosamine kinase 324 G -> R (in Ref. 2; BAA91923). N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process ATP binding|N-acetylglucosamine kinase activity|protein binding 0 N-Acetyl-D-glucosamine(DB00141) GGCACATCGGGCACCTCCTCC 0.607 10 14 --- --- --- --- PASS LRRTM4 80059 broad.mit.edu 37 2 77745583 77745583 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:77745583C>A uc002snr.2 - 3 1827 c.1412G>T c.(1411-1413)AGA>ATA p.R471I LRRTM4_uc002snq.2_Missense_Mutation_p.R471I|LRRTM4_uc002sns.2_Missense_Mutation_p.R471I|LRRTM4_uc002snt.2_Missense_Mutation_p.R472I NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 471 Cytoplasmic (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) TTCAGACTCTCTGGCCTTTTT 0.453 34 62 --- --- --- --- PASS LRRTM4 80059 broad.mit.edu 37 2 77745861 77745861 + Silent SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:77745861G>T uc002snr.2 - 3 1549 c.1134C>A c.(1132-1134)CCC>CCA p.P378P LRRTM4_uc002snq.2_Silent_p.P378P|LRRTM4_uc002sns.2_Silent_p.P378P|LRRTM4_uc002snt.2_Silent_p.P379P NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 378 Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) GAGGTTTCTGGGGAGTTTGGG 0.478 21 54 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80874899 80874899 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:80874899C>T uc010ysh.1 + 18 2769 c.2764C>T c.(2764-2766)CCT>TCT p.P922S CTNNA2_uc010yse.1_Missense_Mutation_p.P874S|CTNNA2_uc010ysf.1_Missense_Mutation_p.P874S|CTNNA2_uc010ysg.1_Missense_Mutation_p.P829S|CTNNA2_uc010ysi.1_Missense_Mutation_p.P506S|CTNNA2_uc010ysj.1_Missense_Mutation_p.P203S NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 922 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 GAGAGAAAAGCCTGAAGAATT 0.458 86 200 --- --- --- --- PASS KCMF1 56888 broad.mit.edu 37 2 85276654 85276654 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:85276654G>T uc002sox.3 + 6 1111 c.767G>T c.(766-768)CGG>CTG p.R256L NM_020122 NP_064507 Q9P0J7 KCMF1_HUMAN potassium channel modulatory factor 1 256 Potential. intracellular ligase activity|zinc ion binding ovary(2) 2 AACGCAACCCGGCGTACTAAC 0.517 25 40 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90260015 90260015 + RNA SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:90260015A>T uc010fhm.2 + 30 c.3998A>T Parts of antibodies, mostly variable regions. TACAGGAGACAGAGTCACCAT 0.458 30 133 --- --- --- --- PASS TMEM131 23505 broad.mit.edu 37 2 98421889 98421889 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:98421889C>A uc002syh.3 - 21 2463 c.2234G>T c.(2233-2235)GGA>GTA p.G745V NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 745 integral to membrane ovary(4)|central_nervous_system(2) 6 ACACTGTAGTCCAGGATCAAA 0.403 10 54 --- --- --- --- PASS TMEM131 23505 broad.mit.edu 37 2 98421890 98421890 + Nonsense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:98421890C>A uc002syh.3 - 21 2462 c.2233G>T c.(2233-2235)GGA>TGA p.G745* NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 745 integral to membrane ovary(4)|central_nervous_system(2) 6 CACTGTAGTCCAGGATCAAAA 0.403 10 52 --- --- --- --- PASS RANBP2 5903 broad.mit.edu 37 2 109389037 109389037 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:109389037G>T uc002tem.3 + 22 8239 c.8113G>T c.(8113-8115)GAT>TAT p.D2705Y NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 2705 Required for E3 SUMO-ligase activity.|Interaction with SUMO1.|2 X 50 AA approximate repeats. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 AAATACAGCAGGTATGTTAAG 0.299 19 40 --- --- --- --- PASS IL1F5 26525 broad.mit.edu 37 2 113818443 113818443 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:113818443C>A uc002tis.2 + 3 177 c.44C>A c.(43-45)GCA>GAA p.A15E IL1F5_uc002tit.2_Missense_Mutation_p.A15E NM_173170 NP_775262 Q9UBH0 I36RA_HUMAN interleukin 1 family, member 5 15 extracellular space cytokine activity|interleukin-1 receptor antagonist activity 0 AAGGACTCGGCATTGAAGGTG 0.502 3 58 --- --- --- --- PASS PCDP1 200373 broad.mit.edu 37 2 120397418 120397418 + Missense_Mutation SNP C A A rs150732635 TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:120397418C>A uc002tmb.2 + 22 2429 c.1337C>A c.(1336-1338)CCG>CAG p.P446Q NM_001029996 NP_001025167 Q4G0U5 PCDP1_HUMAN primary ciliary dyskinesia protein 1 732 cilium calmodulin binding 0 Colorectal(110;0.196) TCCTCCCTGCCGGACCCCTCC 0.498 42 61 --- --- --- --- PASS SAP130 79595 broad.mit.edu 37 2 128712861 128712861 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:128712861C>A uc002tpp.2 - 15 2226 c.2094G>T c.(2092-2094)ATG>ATT p.M698I SAP130_uc002tpn.2_Missense_Mutation_p.M458I|SAP130_uc002tpo.2_Missense_Mutation_p.M478I|SAP130_uc010fmd.2_Missense_Mutation_p.M733I|SAP130_uc002tpq.1_Missense_Mutation_p.M706I NM_024545 NP_078821 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa isoform b 698 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(2)|skin(2) 4 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) ATACAGTCTCCATGGACACAG 0.468 28 81 --- --- --- --- PASS IMP4 92856 broad.mit.edu 37 2 131102229 131102229 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:131102229G>T uc002tra.1 + 3 157 c.140G>T c.(139-141)CGC>CTC p.R47L CCDC115_uc002tqw.1_5'Flank|CCDC115_uc010zaf.1_5'Flank|CCDC115_uc002tqx.2_5'Flank|CCDC115_uc002tqy.1_5'Flank|CCDC115_uc002tqz.1_5'Flank NM_033416 NP_219484 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, 47 Arg-rich. rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(2) 2 Colorectal(110;0.1) ACTGAGTTACGCCGAGAGGCT 0.552 21 87 --- --- --- --- PASS KYNU 8942 broad.mit.edu 37 2 143685295 143685295 + Missense_Mutation SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:143685295A>T uc002tvl.2 + 4 488 c.358A>T c.(358-360)ATG>TTG p.M120L KYNU_uc002tvk.2_Missense_Mutation_p.M120L|KYNU_uc010fnm.2_Missense_Mutation_p.M120L NM_003937 NP_003928 Q16719 KYNU_HUMAN kynureninase (L-kynurenine hydrolase) isoform a 120 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity skin(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) TGTAGGCCTTATGAAGGACAT 0.358 15 93 --- --- --- --- PASS G6PC2 57818 broad.mit.edu 37 2 169761069 169761069 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:169761069C>T uc002uem.2 + 3 475 c.383C>T c.(382-384)ACC>ATC p.T128I G6PC2_uc002uen.2_Missense_Mutation_p.T128I|G6PC2_uc010fpv.2_Missense_Mutation_p.T12I NM_021176 NP_066999 Q9NQR9 G6PC2_HUMAN islet-specific glucose-6-phosphatase-related 128 Helical; (Potential). gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity pancreas(1) 1 GTCATGGTAACCGCTGCCCTG 0.483 45 186 --- --- --- --- PASS MYO3B 140469 broad.mit.edu 37 2 171092574 171092574 + Missense_Mutation SNP C G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:171092574C>G uc002ufy.2 + 7 820 c.677C>G c.(676-678)GCT>GGT p.A226G MYO3B_uc002ufv.2_Missense_Mutation_p.A213G|MYO3B_uc010fqb.1_Missense_Mutation_p.A213G|MYO3B_uc002ufz.2_Missense_Mutation_p.A226G|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002uga.2_Missense_Mutation_p.A213G NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 226 Protein kinase. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 GGGATCACAGCTATTGAACTG 0.498 OREG0014376 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 152 --- --- --- --- PASS ATF2 1386 broad.mit.edu 37 2 175978775 175978775 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:175978775C>A uc002ujl.2 - 9 950 c.688G>T c.(688-690)GCT>TCT p.A230S ATF2_uc010fqv.2_Missense_Mutation_p.A181S|ATF2_uc002ujv.2_Intron|ATF2_uc002ujm.2_Missense_Mutation_p.A172S|ATF2_uc002ujn.2_RNA|ATF2_uc002ujo.2_Intron|ATF2_uc002ujp.2_RNA|ATF2_uc002ujq.2_Missense_Mutation_p.A230S|ATF2_uc002ujr.2_Intron|ATF2_uc010fqu.2_Missense_Mutation_p.A212S|ATF2_uc002ujs.2_Missense_Mutation_p.A172S|ATF2_uc002ujt.2_RNA|ATF2_uc002uju.2_RNA|ATF2_uc002ujw.1_Missense_Mutation_p.A172S|ATF2_uc002ujx.1_RNA NM_001880 NP_001871 P15336 ATF2_HUMAN activating transcription factor 2 230 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(1)|breast(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.125) GCAGGAATAGCAACAGGCATG 0.373 42 197 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179408165 179408165 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:179408165C>A uc010zfg.1 - 296 89055 c.88831G>T c.(88831-88833)GTG>TTG p.V29611L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V23306L|TTN_uc010zfi.1_Missense_Mutation_p.V23239L|TTN_uc010zfj.1_Missense_Mutation_p.V23114L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30538 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) TCTGGCAGCACTCTGAAATAG 0.418 3 59 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179456221 179456221 + Silent SNP G C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:179456221G>C uc010zfg.1 - 253 52751 c.52527C>G c.(52525-52527)TCC>TCG p.S17509S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.S11204S|TTN_uc010zfi.1_Silent_p.S11137S|TTN_uc010zfj.1_Silent_p.S11012S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 18436 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) CTAGCTCCACGGATGGAGGCA 0.353 53 198 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179470363 179470363 + Missense_Mutation SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:179470363G>A uc010zfg.1 - 228 46179 c.45955C>T c.(45955-45957)CGC>TGC p.R15319C uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R9014C|TTN_uc010zfi.1_Missense_Mutation_p.R8947C|TTN_uc010zfj.1_Missense_Mutation_p.R8822C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16246 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) CCATTACTGCGGGGCTCTTTC 0.473 57 74 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179576040 179576040 + Missense_Mutation SNP C G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:179576040C>G uc010zfg.1 - 94 24415 c.24191G>C c.(24190-24192)AGA>ACA p.R8064T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R4725T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8991 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) TTGAACATCTCTCAATTGTCG 0.363 63 74 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179576683 179576683 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:179576683G>T uc010zfg.1 - 93 24366 c.24142C>A c.(24142-24144)CTT>ATT p.L8048I TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L4709I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8975 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) TGAACGGTAAGGAAAGTTGAT 0.353 65 100 --- --- --- --- PASS ZNF804A 91752 broad.mit.edu 37 2 185803160 185803160 + Missense_Mutation SNP A G G rs142034505 byFrequency TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:185803160A>G uc002uph.2 + 4 3631 c.3037A>G c.(3037-3039)AGT>GGT p.S1013G NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1013 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 AGCACATGTCAGTGGTCATAC 0.403 38 54 --- --- --- --- PASS COL5A2 1290 broad.mit.edu 37 2 189923185 189923185 + Missense_Mutation SNP C G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:189923185C>G uc002uqk.2 - 33 2474 c.2199G>C c.(2197-2199)ATG>ATC p.M733I COL5A2_uc010frx.2_Missense_Mutation_p.M309I NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 733 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GTCCTCCAGCCATTCCCTTCT 0.433 41 62 --- --- --- --- PASS HECW2 57520 broad.mit.edu 37 2 197184491 197184491 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:197184491C>A uc002utm.1 - 9 1306 c.1123G>T c.(1123-1125)GAC>TAC p.D375Y HECW2_uc002utl.1_Missense_Mutation_p.D19Y NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 375 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 GCAGCACTGTCCTCAGAAACT 0.522 35 47 --- --- --- --- PASS CYP20A1 57404 broad.mit.edu 37 2 204116832 204116832 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:204116832G>T uc002uzv.3 + 4 1054 c.432G>T c.(430-432)AAG>AAT p.K144N CYP20A1_uc002uzx.3_Missense_Mutation_p.K42N|CYP20A1_uc010zif.1_Missense_Mutation_p.K144N|CYP20A1_uc002uzy.3_Missense_Mutation_p.K42N|CYP20A1_uc002uzw.3_RNA NM_177538 NP_803882 Q6UW02 CP20A_HUMAN cytochrome P450, family 20, subfamily A, 144 integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen 0 TCCTCCTAAAGGTAAGGTGAT 0.353 27 32 --- --- --- --- PASS KIAA1486 57624 broad.mit.edu 37 2 226447576 226447576 + Silent SNP G C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:226447576G>C uc002voe.2 + 4 1618 c.1443G>C c.(1441-1443)TCG>TCC p.S481S KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.S251S NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 481 ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) GACCCGTGTCGCAAGATGGGG 0.667 5 50 --- --- --- --- PASS DGKD 8527 broad.mit.edu 37 2 234343507 234343507 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:234343507G>T uc002vui.1 + 5 558 c.546G>T c.(544-546)GAG>GAT p.E182D DGKD_uc002vuj.1_Missense_Mutation_p.E138D|DGKD_uc010fyh.1_Missense_Mutation_p.E49D|DGKD_uc002vuk.1_Missense_Mutation_p.E49D NM_152879 NP_690618 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa isoform 2 182 Phorbol-ester/DAG-type 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|pancreas(1)|lung(1)|skin(1) 5 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) TGTGCCGTGAGGCTCTGTCTG 0.562 38 158 --- --- --- --- PASS DGKD 8527 broad.mit.edu 37 2 234357911 234357911 + Missense_Mutation SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr2:234357911G>A uc002vui.1 + 15 1789 c.1777G>A c.(1777-1779)GCA>ACA p.A593T DGKD_uc002vuj.1_Missense_Mutation_p.A549T|DGKD_uc010fyh.1_Missense_Mutation_p.A460T|DGKD_uc010fyi.1_RNA NM_152879 NP_690618 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa isoform 2 593 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|pancreas(1)|lung(1)|skin(1) 5 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) CCGCTTGGTGGCATCAGCTTG 0.607 18 54 --- --- --- --- PASS ARPP21 10777 broad.mit.edu 37 3 35785334 35785334 + Missense_Mutation SNP C G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:35785334C>G uc003cgb.2 + 18 2173 c.1909C>G c.(1909-1911)CCT>GCT p.P637A ARPP21_uc003cga.2_Missense_Mutation_p.P618A|ARPP21_uc011axy.1_Missense_Mutation_p.P638A|ARPP21_uc003cgf.2_Missense_Mutation_p.P473A|ARPP21_uc003cgg.2_Missense_Mutation_p.P160A|uc011axz.1_5'Flank|MIR128-2_hsa-mir-128-2|MI0000727_5'Flank NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 637 Gln-rich. cytoplasm nucleic acid binding ovary(2)|skin(1) 3 TCCACAGATGCCTGTATATTA 0.388 18 36 --- --- --- --- PASS SLC25A38 54977 broad.mit.edu 37 3 39431939 39431939 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:39431939G>T uc003cjo.2 + 3 618 c.217G>T c.(217-219)GTA>TTA p.V73L NM_017875 NP_060345 Q96DW6 S2538_HUMAN solute carrier family 25, member 38 73 Solcar 1. erythrocyte differentiation|heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane 0 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) GATGTTGGCTGTACTCTTGAA 0.483 61 68 --- --- --- --- PASS CDCP1 64866 broad.mit.edu 37 3 45132936 45132936 + Silent SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:45132936C>A uc003com.2 - 7 1857 c.1722G>T c.(1720-1722)GTG>GTT p.V574V NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN CUB domain-containing protein 1 isoform 1 574 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) TGTTCCAGGACACAGAGGTGA 0.602 14 11 --- --- --- --- PASS STAB1 23166 broad.mit.edu 37 3 52556921 52556921 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:52556921C>T uc003dej.2 + 62 6949 c.6875C>T c.(6874-6876)TCA>TTA p.S2292L STAB1_uc003dek.1_Missense_Mutation_p.S307L|STAB1_uc003del.2_Missense_Mutation_p.S179L NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 2292 Extracellular (Potential).|Link. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) AAGAACCTCTCAGAACGCTGG 0.617 37 27 --- --- --- --- PASS ADAMTS9 56999 broad.mit.edu 37 3 64524911 64524911 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:64524911C>A uc003dmg.2 - 37 5613 c.5581G>T c.(5581-5583)GGG>TGG p.G1861W ADAMTS9_uc011bfo.1_Missense_Mutation_p.G1833W|ADAMTS9_uc011bfp.1_Missense_Mutation_p.G772W NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 1861 GON. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TAGCAATCCCCGGCTGTGGCA 0.443 14 17 --- --- --- --- PASS OR5AC2 81050 broad.mit.edu 37 3 97806366 97806366 + Missense_Mutation SNP T C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:97806366T>C uc011bgs.1 + 1 350 c.350T>C c.(349-351)CTG>CCG p.L117P NM_054106 NP_473447 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, 117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TGCTTCCTCCTGGTGATGATG 0.433 73 213 --- --- --- --- PASS OR5H14 403273 broad.mit.edu 37 3 97868387 97868387 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:97868387C>T uc003dsg.1 + 1 158 c.158C>T c.(157-159)CCT>CTT p.P53L NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, 53 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TGGAAAGACCCTCATCTTCAT 0.418 91 371 --- --- --- --- PASS DPPA4 55211 broad.mit.edu 37 3 109050762 109050762 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:109050762G>T uc003dxq.3 - 3 350 c.295C>A c.(295-297)CTG>ATG p.L99M DPPA4_uc011bho.1_Missense_Mutation_p.L99M|DPPA4_uc011bhp.1_Missense_Mutation_p.L99M NM_018189 NP_060659 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 99 nucleus protein binding upper_aerodigestive_tract(1) 1 CAGGCCCGCAGAATGTCCCGG 0.537 7 173 --- --- --- --- PASS CCDC80 151887 broad.mit.edu 37 3 112358517 112358517 + Missense_Mutation SNP C A A rs139180030 byFrequency TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:112358517C>A uc003dzf.2 - 2 454 c.236G>T c.(235-237)AGT>ATT p.S79I CCDC80_uc011bhv.1_Missense_Mutation_p.S79I|CCDC80_uc003dzg.2_Missense_Mutation_p.S79I|CCDC80_uc003dzh.1_Missense_Mutation_p.S79I NM_199512 NP_955806 Q76M96 CCD80_HUMAN steroid-sensitive protein 1 precursor 79 ovary(2) 2 CACGGGCACACTCCTCCTTCT 0.612 56 88 --- --- --- --- PASS PLA1A 51365 broad.mit.edu 37 3 119331936 119331936 + Missense_Mutation SNP T A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:119331936T>A uc003ecu.2 + 5 674 c.635T>A c.(634-636)TTC>TAC p.F212Y PLA1A_uc003ecv.2_Missense_Mutation_p.F196Y|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Missense_Mutation_p.F39Y NM_015900 NP_056984 Q53H76 PLA1A_HUMAN phospholipase A1 member A precursor 212 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 GATGCCCTCTTCGTGGAAGCC 0.582 9 18 --- --- --- --- PASS PLA1A 51365 broad.mit.edu 37 3 119331937 119331937 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:119331937C>A uc003ecu.2 + 5 675 c.636C>A c.(634-636)TTC>TTA p.F212L PLA1A_uc003ecv.2_Missense_Mutation_p.F196L|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Missense_Mutation_p.F39L NM_015900 NP_056984 Q53H76 PLA1A_HUMAN phospholipase A1 member A precursor 212 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 ATGCCCTCTTCGTGGAAGCCA 0.577 9 17 --- --- --- --- PASS FBXO40 51725 broad.mit.edu 37 3 121340661 121340661 + Silent SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:121340661C>T uc003eeg.2 + 3 595 c.385C>T c.(385-387)CTG>TTG p.L129L NM_016298 NP_057382 Q9UH90 FBX40_HUMAN F-box protein 40 129 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(114;0.189) GGACACAGCCCTGGCCCTGCA 0.502 12 39 --- --- --- --- PASS SEMA5B 54437 broad.mit.edu 37 3 122645462 122645462 + Missense_Mutation SNP C A A rs139156063 TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:122645462C>A uc003efz.1 - 9 1217 c.913G>T c.(913-915)GCA>TCA p.A305S SEMA5B_uc011bju.1_Missense_Mutation_p.A247S|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.A305S|SEMA5B_uc010hro.1_Missense_Mutation_p.A247S|SEMA5B_uc010hrp.1_RNA NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 305 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) TGCTCCACTGCGTTCTCCCGC 0.607 12 38 --- --- --- --- PASS ROPN1B 152015 broad.mit.edu 37 3 125701208 125701208 + Silent SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:125701208C>T uc003eih.2 + 5 720 c.492C>T c.(490-492)CTC>CTT p.L164L ROPN1B_uc010hsb.2_Silent_p.L164L|ROPN1B_uc010hsc.2_Silent_p.L72L NM_001012337 NP_001012337 Q9BZX4 ROP1B_HUMAN ropporin, rhophilin associated protein 1B 164 acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis cytoplasm|flagellum cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity 0 GBM - Glioblastoma multiforme(114;0.151) TCCAGTTTCTCTACACGTATA 0.428 26 106 --- --- --- --- PASS GATA2 2624 broad.mit.edu 37 3 128199973 128199973 + Silent SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:128199973C>T uc003ekm.3 - 7 1767 c.1332G>A c.(1330-1332)CCG>CCA p.P444P GATA2_uc003ekn.3_Silent_p.P430P|GATA2_uc003eko.2_Silent_p.P444P NM_001145661 NP_001139133 P23769 GATA2_HUMAN GATA binding protein 2 isoform 1 444 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding haematopoietic_and_lymphoid_tissue(13)|lung(1)|skin(1) 15 GBM - Glioblastoma multiforme(114;0.173) GGCTGAAGGGCGGGAGGTGGC 0.657 Mis AML(CML blast transformation) 17 88 --- --- --- --- PASS IL20RB 53833 broad.mit.edu 37 3 136714254 136714254 + Splice_Site SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:136714254A>T uc003eri.1 + 6 932 c.683_splice c.e6-2 p.G228_splice IL20RB_uc003erj.1_Splice_Site|IL20RB_uc010hud.1_Splice_Site_p.G86_splice NM_144717 NP_653318 Q6UXL0 I20RB_HUMAN interleukin 20 receptor beta precursor integral to membrane receptor activity ovary(1) 1 TTTTGTTTCCAGGAGAGGCCA 0.507 58 170 --- --- --- --- PASS RBP2 5948 broad.mit.edu 37 3 139195235 139195235 + Missense_Mutation SNP C A A rs147339826 TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:139195235C>A uc003eth.2 - 1 118 c.67G>T c.(67-69)GCC>TCC p.A23S NM_004164 NP_004155 P50120 RET2_HUMAN retinol binding protein 2, cellular 23 epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process cytosol retinal binding|retinol binding|transporter activity skin(1) 1 Vitamin A(DB00162) TTACCCAGGGCCTTCATGTAG 0.498 30 81 --- --- --- --- PASS PLSCR5 389158 broad.mit.edu 37 3 146311771 146311771 + Missense_Mutation SNP T A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:146311771T>A uc003ewb.2 - 4 1393 c.389A>T c.(388-390)GAG>GTG p.E130V PLSCR5_uc010hvb.2_Missense_Mutation_p.E118V|PLSCR5_uc010hvc.2_Missense_Mutation_p.E130V NM_001085420 NP_001078889 A0PG75 PLS5_HUMAN phospholipid scramblase family, member 5 130 0 TGTAATGACCTCTCGACCTGA 0.458 72 89 --- --- --- --- PASS CP 1356 broad.mit.edu 37 3 148896347 148896347 + Silent SNP T C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:148896347T>C uc003ewy.3 - 16 2986 c.2733A>G c.(2731-2733)AGA>AGG p.R911R CP_uc011bnr.1_RNA|CP_uc003eww.3_Silent_p.R63R|CP_uc003ewx.3_Silent_p.R692R|CP_uc003ewz.2_Silent_p.R911R NM_000096 NP_000087 P00450 CERU_HUMAN ceruloplasmin precursor 911 F5/8 type A 3.|Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity ovary(1) 1 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) CCAGTTTCCTTCTGGGATTGA 0.398 44 53 --- --- --- --- PASS P2RY1 5028 broad.mit.edu 37 3 152553673 152553673 + Silent SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:152553673C>T uc003ezq.2 + 1 938 c.102C>T c.(100-102)GCC>GCT p.A34A NM_002563 NP_002554 P47900 P2RY1_HUMAN purinergic receptor P2Y1 34 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) CCTCCACTGCCGCCGTCTCCT 0.627 23 116 --- --- --- --- PASS SERPINI1 5274 broad.mit.edu 37 3 167510476 167510476 + Missense_Mutation SNP T G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:167510476T>G uc003ffa.3 + 4 778 c.580T>G c.(580-582)TTT>GTT p.F194V SERPINI1_uc003ffb.3_Missense_Mutation_p.F194V NM_001122752 NP_001116224 Q99574 NEUS_HUMAN neuroserpin precursor 194 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(1) 1 GAAGTCGCAGTTTAGGCCTGA 0.388 40 148 --- --- --- --- PASS TERC 7012 broad.mit.edu 37 3 169482476 169482476 + RNA SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:169482476C>T uc003ffr.1 - 1 c.373G>A NR_001566 Homo sapiens cDNA clone IMAGE:40002477. 0 CTCCGTTCCTCTTCCTGCGGC 0.672 Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic 9 21 --- --- --- --- PASS MYNN 55892 broad.mit.edu 37 3 169501281 169501281 + Silent SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:169501281A>T uc003fft.2 + 6 1845 c.1416A>T c.(1414-1416)ATA>ATT p.I472I MYNN_uc011bpm.1_Silent_p.I358I|MYNN_uc003ffu.2_Silent_p.I472I|MYNN_uc003ffv.2_Silent_p.I199I|MYNN_uc010hwo.2_Silent_p.I472I|MYNN_uc003ffw.1_RNA NM_018657 NP_061127 Q9NPC7 MYNN_HUMAN myoneurin 472 C2H2-type 7. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) AACCATACATATGTGGTATTT 0.323 119 216 --- --- --- --- PASS SLC2A2 6514 broad.mit.edu 37 3 170720438 170720438 + Missense_Mutation SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:170720438G>A uc003fhe.1 - 8 1304 c.995C>T c.(994-996)ACG>ATG p.T332M SLC2A2_uc003fhf.1_Missense_Mutation_p.T159M|SLC2A2_uc011bpu.1_Missense_Mutation_p.T205M NM_000340 NP_000331 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose 332 Extracellular (Potential). carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) GATACCAGCCGTCTGAAAAAT 0.383 7 48 --- --- --- --- PASS PLD1 5337 broad.mit.edu 37 3 171321028 171321028 + Missense_Mutation SNP T A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:171321028T>A uc003fhs.2 - 27 3181 c.3065A>T c.(3064-3066)AAG>ATG p.K1022M PLD1_uc003fht.2_Missense_Mutation_p.K984M NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 1022 cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) TAATACGGGCTTGTTTATAAA 0.388 21 114 --- --- --- --- PASS NLGN1 22871 broad.mit.edu 37 3 173998631 173998631 + Silent SNP G A A rs115881871 byFrequency TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:173998631G>A uc003fio.1 + 7 2433 c.2010G>A c.(2008-2010)AGG>AGA p.R670R NLGN1_uc003fip.1_Silent_p.R670R NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 687 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) TGGATCAAAGGGACTACTCAA 0.458 42 257 --- --- --- --- PASS NDUFB5 4711 broad.mit.edu 37 3 179322659 179322659 + Missense_Mutation SNP C G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:179322659C>G uc003fkc.2 + 1 85 c.56C>G c.(55-57)TCT>TGT p.S19C MRPL47_uc003fjz.2_5'Flank|MRPL47_uc003fka.2_5'Flank|MRPL47_uc003fkb.2_5'Flank|NDUFB5_uc003fkd.2_RNA|NDUFB5_uc003fke.2_Missense_Mutation_p.S19C NM_002492 NP_002483 O43674 NDUB5_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 19 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity skin(1) 1 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) NADH(DB00157) GCAGCTCTGTCTGGCCGGCCC 0.642 12 63 --- --- --- --- PASS HTR3C 170572 broad.mit.edu 37 3 183776353 183776353 + Missense_Mutation SNP T A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:183776353T>A uc003fmk.2 + 6 732 c.698T>A c.(697-699)CTA>CAA p.L233Q NM_130770 NP_570126 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine receptor 3 subunit C 233 Extracellular (Potential). integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) GGCAACAACCTATATGACCAG 0.512 40 210 --- --- --- --- PASS DGKG 1608 broad.mit.edu 37 3 185906145 185906145 + Silent SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr3:185906145C>A uc003fqa.2 - 22 2478 c.1941G>T c.(1939-1941)CTG>CTT p.L647L DGKG_uc003fqb.2_Silent_p.L608L|DGKG_uc003fqc.2_Silent_p.L622L|DGKG_uc011brx.1_Silent_p.L588L NM_001346 NP_001337 P49619 DGKG_HUMAN diacylglycerol kinase gamma isoform 1 647 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) AGATGTTGCTCAGGTCCACCC 0.498 30 140 --- --- --- --- PASS OTOP1 133060 broad.mit.edu 37 4 4228190 4228190 + Silent SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr4:4228190G>T uc003ghp.1 - 1 432 c.402C>A c.(400-402)CGC>CGA p.R134R NM_177998 NP_819056 Q7RTM1 OTOP1_HUMAN otopetrin 1 134 biomineral tissue development extracellular space|integral to membrane ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGGACTCACCGCGCAGCCAGC 0.721 4 2 --- --- --- --- PASS CENPC1 1060 broad.mit.edu 37 4 68380252 68380252 + Silent SNP T C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr4:68380252T>C uc003hdd.1 - 8 1167 c.984A>G c.(982-984)AAA>AAG p.K328K CENPC1_uc010ihj.1_RNA|CENPC1_uc010ihk.1_RNA|CENPC1_uc010ihm.1_Silent_p.K328K NM_001812 NP_001803 Q03188 CENPC_HUMAN centromere protein C 1 328 mitotic prometaphase condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol DNA binding urinary_tract(1)|lung(1) 2 TTGTGCGTTGTTTCAGAGACC 0.393 16 13 --- --- --- --- PASS BANK1 55024 broad.mit.edu 37 4 102993502 102993502 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr4:102993502G>T uc003hvy.3 + 15 2517 c.2243G>T c.(2242-2244)GGT>GTT p.G748V BANK1_uc003hvx.3_Missense_Mutation_p.G733V|BANK1_uc010ill.2_Missense_Mutation_p.G615V|BANK1_uc003hvz.3_Missense_Mutation_p.G718V NM_017935 NP_060405 Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 748 B cell activation ovary(2)|skin(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) GTATTTCTAGGTAAGGAAACT 0.259 41 50 --- --- --- --- PASS LRIT3 345193 broad.mit.edu 37 4 110791868 110791868 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr4:110791868C>A uc003hzx.3 + 3 2021 c.1828C>A c.(1828-1830)CTG>ATG p.L610M LRIT3_uc003hzw.3_Missense_Mutation_p.L472M NM_198506 NP_940908 Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and 610 integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(123;0.0011) AGAGAAATTGCTGCTTTGTTC 0.458 16 25 --- --- --- --- PASS LRIT3 345193 broad.mit.edu 37 4 110791869 110791869 + Missense_Mutation SNP T A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr4:110791869T>A uc003hzx.3 + 3 2022 c.1829T>A c.(1828-1830)CTG>CAG p.L610Q LRIT3_uc003hzw.3_Missense_Mutation_p.L472Q NM_198506 NP_940908 Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and 610 integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(123;0.0011) GAGAAATTGCTGCTTTGTTCT 0.458 17 25 --- --- --- --- PASS AGA 175 broad.mit.edu 37 4 178358674 178358674 + Splice_Site SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr4:178358674C>T uc003iuu.1 - 5 570 c.508_splice c.e5-1 p.N170_splice AGA_uc003iuv.1_Splice_Site_p.N74_splice|AGA_uc003iuw.2_Splice_Site_p.N74_splice NM_000027 NP_000018 P20933 ASPG_HUMAN aspartylglucosaminidase precursor asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity 0 all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245) all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163) GTATAACATTCTGTAAACAAG 0.338 19 17 --- --- --- --- PASS HELT 391723 broad.mit.edu 37 4 185941641 185941641 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr4:185941641G>T uc011ckq.1 + 4 699 c.699G>T c.(697-699)CAG>CAT p.Q233H HELT_uc011cko.1_Missense_Mutation_p.Q148H|HELT_uc003ixa.3_Missense_Mutation_p.Q147H|HELT_uc011ckp.1_Missense_Mutation_p.Q91H NM_001029887 NP_001025058 A6NFD8 HELT_HUMAN HES/HEY-like transcription factor 233 Pro-rich. DNA binding 0 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) TCTCCTATCAGCTGCACCCTG 0.721 18 13 --- --- --- --- PASS TRIML2 205860 broad.mit.edu 37 4 189012671 189012671 + Silent SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr4:189012671G>T uc003izl.2 - 7 1056 c.1020C>A c.(1018-1020)TCC>TCA p.S340S TRIML2_uc003izj.1_Silent_p.S168S|TRIML2_uc003izk.1_Silent_p.S148S|TRIML2_uc011cle.1_Silent_p.S415S NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 340 B30.2/SPRY. ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) TGTAAATGAGGGACATCTCGG 0.488 76 65 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13762899 13762899 + Missense_Mutation SNP C G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr5:13762899C>G uc003jfd.2 - 60 10255 c.10213G>C c.(10213-10215)GGT>CGT p.G3405R DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3405 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GAACAAAGACCAGCTACATTT 0.423 Kartagener_syndrome 36 67 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19838880 19838880 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr5:19838880C>A uc003jgc.2 - 2 593 c.216G>T c.(214-216)CAG>CAT p.Q72H CDH18_uc003jgd.2_Missense_Mutation_p.Q72H|CDH18_uc011cnm.1_Missense_Mutation_p.Q72H NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 72 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) TTCCAACATACTGAGGATCTG 0.378 14 38 --- --- --- --- PASS CDH9 1007 broad.mit.edu 37 5 26881656 26881656 + Silent SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr5:26881656C>A uc003jgs.1 - 12 2128 c.1959G>T c.(1957-1959)CGG>CGT p.R653R CDH9_uc011cnv.1_Silent_p.R246R NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 653 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 CAATGTTGTCCCGGACATCGT 0.408 64 141 --- --- --- --- PASS CDH9 1007 broad.mit.edu 37 5 26885930 26885930 + Missense_Mutation SNP T A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr5:26885930T>A uc003jgs.1 - 11 1844 c.1675A>T c.(1675-1677)AAC>TAC p.N559Y CDH9_uc011cnv.1_Missense_Mutation_p.N152Y NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 559 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 CTCATTTTGTTGCGACTGTAG 0.388 29 39 --- --- --- --- PASS CDH9 1007 broad.mit.edu 37 5 26902713 26902713 + Silent SNP T C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr5:26902713T>C uc003jgs.1 - 7 1294 c.1125A>G c.(1123-1125)GAA>GAG p.E375E NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 375 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 CATCTATATCTTCCACAGATA 0.413 29 67 --- --- --- --- PASS EGFLAM 133584 broad.mit.edu 37 5 38451484 38451484 + Missense_Mutation SNP T A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr5:38451484T>A uc003jlc.1 + 20 2959 c.2635T>A c.(2635-2637)TGG>AGG p.W879R EGFLAM_uc003jlb.1_Missense_Mutation_p.W871R|EGFLAM_uc003jle.1_Missense_Mutation_p.W637R|EGFLAM_uc003jlf.1_Missense_Mutation_p.W237R|EGFLAM_uc003jlg.1_Missense_Mutation_p.W14R NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 879 Laminin G-like 3. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) CCTTTTGCTGTGGAGGGGAGA 0.507 59 108 --- --- --- --- PASS PPIP5K2 23262 broad.mit.edu 37 5 102487021 102487021 + Missense_Mutation SNP G C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr5:102487021G>C uc003kod.3 + 9 1490 c.971G>C c.(970-972)GGC>GCC p.G324A PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.G324A|PPIP5K2_uc010jbo.1_Missense_Mutation_p.G246A NM_015216 NP_056031 O43314 VIP2_HUMAN Histidine acid phosphatase domain containing 1 324 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity ovary(1)|skin(1) 2 GATGTCAATGGCTTCAGTTTT 0.299 30 37 --- --- --- --- PASS PCDHB12 56124 broad.mit.edu 37 5 140588761 140588761 + Missense_Mutation SNP G C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr5:140588761G>C uc003liz.2 + 1 471 c.282G>C c.(280-282)GAG>GAC p.E94D PCDHB12_uc011dak.1_Intron NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 94 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAGGGAGGAGCTCTGTGGCT 0.478 56 38 --- --- --- --- PASS PCDHGA1 56114 broad.mit.edu 37 5 140712343 140712343 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr5:140712343G>T uc003lji.1 + 1 2092 c.2092G>T c.(2092-2094)GCC>TCC p.A698S PCDHGA1_uc011dan.1_Missense_Mutation_p.A698S NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 698 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGGCGGCGGCCGCGGTCTC 0.677 45 52 --- --- --- --- PASS NIPAL4 348938 broad.mit.edu 37 5 156899620 156899620 + Missense_Mutation SNP C G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr5:156899620C>G uc003lwx.3 + 6 1169 c.1053C>G c.(1051-1053)TTC>TTG p.F351L ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.F332L NM_001099287 NP_001092757 Q0D2K0 NIPA4_HUMAN ichthyin protein 351 Cytoplasmic (Potential). integral to membrane receptor activity 0 TGGACATTTTCAACACTTCCC 0.547 OREG0016979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 40 --- --- --- --- PASS DOCK2 1794 broad.mit.edu 37 5 169144478 169144478 + Silent SNP T C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr5:169144478T>C uc003maf.2 + 21 2202 c.2122T>C c.(2122-2124)TTG>CTG p.L708L DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.L200L NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 708 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGTGCGACCTTGGCTTACAA 0.448 48 41 --- --- --- --- PASS SCGB3A1 92304 broad.mit.edu 37 5 180017806 180017806 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr5:180017806C>A uc003mly.2 - 2 110 c.85G>T c.(85-87)GTG>TTG p.V29L NM_052863 NP_443095 Q96QR1 SG3A1_HUMAN secretoglobin, family 3A, member 1 precursor 29 negative regulation of cell growth|regulation of cell proliferation extracellular space cytokine activity 0 all_cancers(89;7.5e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00658)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCTGGGCCACAGGCTTGGCC 0.721 3 2 --- --- --- --- PASS TMEM170B 100113407 broad.mit.edu 37 6 11566052 11566052 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr6:11566052C>A uc010jpa.2 + 2 251 c.251C>A c.(250-252)ACT>AAT p.T84N NM_001100829 NP_001094299 Q5T4T1 T170B_HUMAN transmembrane protein 170B 84 Helical; (Potential). integral to membrane 0 GCTTCTGTAACTGGAGCGATG 0.418 12 126 --- --- --- --- PASS SCGN 10590 broad.mit.edu 37 6 25661812 25661812 + Silent SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr6:25661812G>T uc003nfb.2 + 3 389 c.186G>T c.(184-186)GTG>GTT p.V62V SCGN_uc010jpz.2_5'UTR NM_006998 NP_008929 O76038 SEGN_HUMAN secretagogin precursor 62 EF-hand 2. extracellular region|transport vesicle membrane calcium ion binding ovary(2)|pancreas(1) 3 TGCACAAGGTGAAACAGCAGT 0.408 7 36 --- --- --- --- PASS OR2B6 26212 broad.mit.edu 37 6 27925240 27925240 + Silent SNP C G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr6:27925240C>G uc011dkx.1 + 1 222 c.222C>G c.(220-222)ACC>ACG p.T74T NM_012367 NP_036499 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, 74 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TTTGTTACACCACATGTACAG 0.418 11 81 --- --- --- --- PASS TNXB 7148 broad.mit.edu 37 6 32016321 32016321 + Silent SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr6:32016321G>T uc003nzl.2 - 29 10060 c.9858C>A c.(9856-9858)CCC>CCA p.P3286P TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 3333 Fibronectin type-III 25. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 AGGAGTCAAAGGGGCCCTGGG 0.716 9 20 --- --- --- --- PASS HLA-DQA2 3118 broad.mit.edu 37 6 32714033 32714033 + Silent SNP C T T rs139553288 by1000genomes TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr6:32714033C>T uc003obx.2 + 4 688 c.630C>T c.(628-630)GCC>GCT p.A210A NM_020056 NP_064440 P01906 DQA2_HUMAN major histocompatibility complex, class II, DQ 210 Extracellular (Potential).|Connecting peptide. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity 0 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGATTCCAGCCCCTATGTCAG 0.572 8 110 --- --- --- --- PASS SYNGAP1 8831 broad.mit.edu 37 6 33405482 33405482 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr6:33405482G>T uc011dri.1 + 8 995 c.800G>T c.(799-801)TGG>TTG p.W267L SYNGAP1_uc003oeo.1_Missense_Mutation_p.W252L|SYNGAP1_uc010juy.2_Missense_Mutation_p.W252L|SYNGAP1_uc010juz.2_5'UTR NM_006772 NP_006763 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 267 C2. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding ovary(4) 4 CTAAAGCTGTGGATCATAGAG 0.582 84 105 --- --- --- --- PASS TFEB 7942 broad.mit.edu 37 6 41658460 41658460 + Missense_Mutation SNP T G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr6:41658460T>G uc003oqs.1 - 4 711 c.409A>C c.(409-411)AAC>CAC p.N137H TFEB_uc003oqt.1_Missense_Mutation_p.N137H|TFEB_uc003oqu.1_Missense_Mutation_p.N151H|TFEB_uc003oqv.1_Missense_Mutation_p.N137H|TFEB_uc010jxo.1_Missense_Mutation_p.N137H|TFEB_uc003oqx.1_Missense_Mutation_p.N137H|TFEB_uc003oqr.1_Intron|TFEB_uc003oqw.1_Missense_Mutation_p.N137H NM_007162 NP_009093 P19484 TFEB_HUMAN transcription factor EB 137 GSPKPPPAASPGVRAGHVLSSSAGNSAPN -> ALRNPHQP PPQGCELDTCCPPPLATVLPI (in Ref. 1; AAA36730). embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(1) 1 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) GGAGCACTGTTGCCAGCGGAG 0.652 T ALPHA renal (childhood epithelioid) 9 33 --- --- --- --- PASS RHAG 6005 broad.mit.edu 37 6 49582509 49582509 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr6:49582509C>T uc003ozk.3 - 5 760 c.698G>A c.(697-699)GGA>GAA p.G233E RHAG_uc010jzl.2_Missense_Mutation_p.G233E|RHAG_uc010jzm.2_Missense_Mutation_p.G233E NM_000324 NP_000315 Q02094 RHAG_HUMAN Rh-associated glycoprotein 233 Extracellular (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) CTGTTTGTCTCCAGGTTCAGC 0.502 46 61 --- --- --- --- PASS COL21A1 81578 broad.mit.edu 37 6 56044682 56044682 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr6:56044682C>T uc003pcs.2 - 3 566 c.334G>A c.(334-336)GGA>AGA p.G112R COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.G112R|COL21A1_uc003pcu.1_Missense_Mutation_p.G112R NM_030820 NP_110447 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 precursor 112 VWFA. cell adhesion collagen|cytoplasm structural molecule activity ovary(2) 2 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TTTGTGTTTCCTCCTAAGTAG 0.468 17 25 --- --- --- --- PASS LGSN 51557 broad.mit.edu 37 6 63990918 63990918 + Missense_Mutation SNP G C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr6:63990918G>C uc003peh.2 - 4 572 c.538C>G c.(538-540)CTT>GTT p.L180V LGSN_uc003pei.2_Intron NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase 180 glutamine biosynthetic process glutamate-ammonia ligase activity skin(2) 2 L-Glutamic Acid(DB00142) GAAGTCAAAAGAGGCTCACCA 0.453 10 46 --- --- --- --- PASS FAM135A 57579 broad.mit.edu 37 6 71162203 71162203 + Missense_Mutation SNP A G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr6:71162203A>G uc003pfj.2 + 3 219 c.86A>G c.(85-87)CAG>CGG p.Q29R FAM135A_uc003pfi.2_Missense_Mutation_p.Q29R|FAM135A_uc003pfh.2_Intron|FAM135A_uc003pfk.2_Missense_Mutation_p.Q29R|FAM135A_uc003pfl.2_5'UTR NM_001162529 NP_001156001 Q9P2D6 F135A_HUMAN hypothetical protein LOC57579 isoform c 29 central_nervous_system(1) 1 AGTTTTTACCAGATTCGTGCT 0.308 19 30 --- --- --- --- PASS IMPG1 3617 broad.mit.edu 37 6 76713620 76713620 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr6:76713620G>T uc003pik.1 - 11 1313 c.1183C>A c.(1183-1185)CTG>ATG p.L395M NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 395 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) GATGTGGGCAGCTCTGATTGG 0.388 5 28 --- --- --- --- PASS DOPEY1 23033 broad.mit.edu 37 6 83838904 83838904 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr6:83838904C>T uc003pjs.1 + 16 2278 c.2018C>T c.(2017-2019)GCA>GTA p.A673V DOPEY1_uc011dyy.1_Missense_Mutation_p.A664V|DOPEY1_uc010kbl.1_Missense_Mutation_p.A664V NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 673 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) CAAAAGACTGCAATGCAGTGC 0.463 4 70 --- --- --- --- PASS CNR1 1268 broad.mit.edu 37 6 88854060 88854060 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr6:88854060C>T uc011dzq.1 - 2 4497 c.934G>A c.(934-936)GGC>AGC p.G312S CNR1_uc010kbz.2_Missense_Mutation_p.G312S|CNR1_uc011dzr.1_Missense_Mutation_p.G312S|CNR1_uc011dzs.1_Missense_Mutation_p.G312S|CNR1_uc003pmq.3_Missense_Mutation_p.G312S|CNR1_uc011dzt.1_Missense_Mutation_p.G312S|CNR1_uc010kca.2_Missense_Mutation_p.G279S NM_001160260 NP_001153732 P21554 CNR1_HUMAN cannabinoid receptor 1 isoform a 312 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding skin(2) 2 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) TTCTGGGTGCCACGCTGAATC 0.557 38 45 --- --- --- --- PASS FHL5 9457 broad.mit.edu 37 6 97063490 97063490 + Missense_Mutation SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr6:97063490A>T uc003pos.1 + 7 1102 c.697A>T c.(697-699)ACA>TCA p.T233S FHL5_uc003pot.1_Missense_Mutation_p.T233S NM_020482 NP_065228 Q5TD97 FHL5_HUMAN activator of cAMP-responsive element modulator 233 LIM zinc-binding 4. nucleus zinc ion binding ovary(2) 2 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) TACAGGTCTCACAGGTGCCAA 0.303 13 58 --- --- --- --- PASS SIM1 6492 broad.mit.edu 37 6 100868810 100868810 + Missense_Mutation SNP C G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr6:100868810C>G uc003pqj.3 - 9 1230 c.1023G>C c.(1021-1023)CAG>CAC p.Q341H SIM1_uc010kcu.2_Missense_Mutation_p.Q341H NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 341 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CCAGGGAGAGCTGCAGCCCTT 0.527 6 26 --- --- --- --- PASS LAMA4 3910 broad.mit.edu 37 6 112440359 112440359 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr6:112440359C>A uc003pvu.2 - 34 5130 c.4821G>T c.(4819-4821)CAG>CAT p.Q1607H LAMA4_uc003pvv.2_Missense_Mutation_p.Q1600H|LAMA4_uc003pvt.2_Missense_Mutation_p.Q1600H NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 1607 Laminin G-like 4. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CCTGGCTTACCTGAACATTTT 0.299 7 52 --- --- --- --- PASS DSE 29940 broad.mit.edu 37 6 116720781 116720781 + Missense_Mutation SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr6:116720781G>A uc003pws.2 + 2 562 c.368G>A c.(367-369)CGA>CAA p.R123Q DSE_uc011ebf.1_Missense_Mutation_p.R123Q|DSE_uc003pwq.1_Missense_Mutation_p.R123Q|DSE_uc011ebg.1_Missense_Mutation_p.R142Q|DSE_uc003pwt.2_Missense_Mutation_p.R123Q NM_001080976 NP_001074445 Q9UL01 DSE_HUMAN dermatan sulfate epimerase precursor 123 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity ovary(1) 1 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) ATTGAAGCCCGAGACATGGCC 0.458 6 77 --- --- --- --- PASS RSPO3 84870 broad.mit.edu 37 6 127476428 127476428 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr6:127476428C>A uc003qar.2 + 4 769 c.479C>A c.(478-480)ACG>AAG p.T160K RSPO3_uc003qas.1_Missense_Mutation_p.T160K NM_032784 NP_116173 Q9BXY4 RSPO3_HUMAN R-spondin 3 precursor 160 TSP type-1. extracellular region heparin binding 0 GBM - Glioblastoma multiforme(226;0.0555) AGTCCATGCACGAAGAAGGGA 0.463 22 151 --- --- --- --- PASS IFNGR1 3459 broad.mit.edu 37 6 137519616 137519616 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr6:137519616C>A uc003qho.2 - 7 1125 c.1022G>T c.(1021-1023)GGA>GTA p.G341V IFNGR1_uc011edm.1_Missense_Mutation_p.G313V NM_000416 NP_000407 P15260 INGR1_HUMAN interferon gamma receptor 1 precursor 341 Cytoplasmic (Potential). regulation of interferon-gamma-mediated signaling pathway|response to virus integral to plasma membrane interferon-gamma receptor activity upper_aerodigestive_tract(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389) Interferon gamma-1b(DB00033) TTCCACTTTTCCTGGATTGTC 0.458 9 44 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152650870 152650870 + Missense_Mutation SNP T C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr6:152650870T>C uc010kiw.2 - 78 15552 c.14950A>G c.(14950-14952)AGA>GGA p.R4984G SYNE1_uc003qot.3_Missense_Mutation_p.R4913G|SYNE1_uc003qou.3_Missense_Mutation_p.R4984G|SYNE1_uc010kiz.2_Missense_Mutation_p.R739G NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4984 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCCACCTGTCTGGTGCGTAAG 0.438 HNSCC(10;0.0054) 7 98 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152651898 152651898 + Missense_Mutation SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr6:152651898A>T uc010kiw.2 - 78 14524 c.13922T>A c.(13921-13923)CTC>CAC p.L4641H SYNE1_uc003qot.3_Missense_Mutation_p.L4570H|SYNE1_uc003qou.3_Missense_Mutation_p.L4641H|SYNE1_uc010kiz.2_Missense_Mutation_p.L396H NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4641 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTTTTCACTGAGGTAGGAATG 0.398 HNSCC(10;0.0054) 40 59 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152762327 152762327 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr6:152762327G>T uc010kiw.2 - 32 4689 c.4087C>A c.(4087-4089)CAT>AAT p.H1363N SYNE1_uc003qot.3_Missense_Mutation_p.H1370N|SYNE1_uc003qou.3_Missense_Mutation_p.H1363N|SYNE1_uc010kjb.1_Missense_Mutation_p.H1346N|SYNE1_uc003qow.2_Missense_Mutation_p.H658N|SYNE1_uc003qox.1_Missense_Mutation_p.H879N NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1363 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AAGCGTTCATGACTGGAACCT 0.328 HNSCC(10;0.0054) 13 17 --- --- --- --- PASS FBXO5 26271 broad.mit.edu 37 6 153296183 153296183 + Missense_Mutation SNP C G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr6:153296183C>G uc003qpg.2 - 2 786 c.677G>C c.(676-678)AGA>ACA p.R226T FBXO5_uc003qph.2_Missense_Mutation_p.R180T NM_012177 NP_036309 Q9UKT4 FBX5_HUMAN F-box only protein 5 isoform a 226 Interaction with EVI5. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm|spindle metal ion binding|protein binding 0 Ovarian(120;0.125) OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893) AAAATTTCCTCTGGCTATAAT 0.368 7 73 --- --- --- --- PASS PDE10A 10846 broad.mit.edu 37 6 165848854 165848854 + Silent SNP T A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr6:165848854T>A uc003qun.2 - 7 619 c.378A>T c.(376-378)ATA>ATT p.I126I PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Silent_p.I56I|PDE10A_uc003quo.2_Silent_p.I136I NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 126 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) GTGGCGTGAATATACACAGGC 0.473 16 18 --- --- --- --- PASS MAD1L1 8379 broad.mit.edu 37 7 2255829 2255829 + Nonsense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr7:2255829C>A uc003slh.1 - 8 1038 c.772G>T c.(772-774)GAG>TAG p.E258* MAD1L1_uc003sle.1_5'Flank|MAD1L1_uc003slf.1_Nonsense_Mutation_p.E258*|MAD1L1_uc003slg.1_Nonsense_Mutation_p.E258*|MAD1L1_uc010ksh.1_Nonsense_Mutation_p.E258*|MAD1L1_uc003sli.1_Nonsense_Mutation_p.E166*|MAD1L1_uc010ksi.1_Nonsense_Mutation_p.E211*|MAD1L1_uc010ksj.2_Nonsense_Mutation_p.E258* NM_001013836 NP_001013858 Q9Y6D9 MD1L1_HUMAN MAD1-like 1 protein 258 Potential. cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) TGCTTCAGCTCCCGTTCCAGC 0.622 37 50 --- --- --- --- PASS USP42 84132 broad.mit.edu 37 7 6194338 6194338 + Silent SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr7:6194338C>T uc011jwo.1 + 15 3276 c.3153C>T c.(3151-3153)CCC>CCT p.P1051P USP42_uc011jwp.1_Silent_p.P1051P|USP42_uc011jwq.1_Silent_p.P858P|USP42_uc011jwr.1_Silent_p.P896P NM_032172 NP_115548 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 1051 Arg-rich. cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(2)|ovary(1)|pancreas(1)|breast(1) 5 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) AGTTCTACCCCGACAGGCCGC 0.692 6 7 --- --- --- --- PASS ABCB5 340273 broad.mit.edu 37 7 20682940 20682940 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr7:20682940C>A uc010kuh.2 + 6 685 c.448C>A c.(448-450)CAG>AAG p.Q150K NM_001163941 NP_001157413 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 334 Extracellular (Potential).|ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 AGTTTTGGCACAGGACATCGG 0.398 16 40 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21640753 21640753 + Nonsense_Mutation SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr7:21640753G>A uc003svc.2 + 17 3412 c.3381G>A c.(3379-3381)TGG>TGA p.W1127* NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1127 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TTAAGAAATGGAGCTGGATGT 0.348 Kartagener_syndrome 8 94 --- --- --- --- PASS BBS9 27241 broad.mit.edu 37 7 33303909 33303909 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr7:33303909G>T uc003tdn.1 + 7 1138 c.625G>T c.(625-627)GTA>TTA p.V209L BBS9_uc003tdo.1_Missense_Mutation_p.V209L|BBS9_uc003tdp.1_Missense_Mutation_p.V209L|BBS9_uc003tdq.1_Missense_Mutation_p.V209L|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Missense_Mutation_p.V209L|BBS9_uc011kao.1_Missense_Mutation_p.V87L NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 209 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) CAGGTACCAGGTACTTGCTTT 0.244 Bardet-Biedl_syndrome 27 55 --- --- --- --- PASS AMPH 273 broad.mit.edu 37 7 38471793 38471793 + Missense_Mutation SNP C A A rs145380938 TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr7:38471793C>A uc003tgu.2 - 13 1223 c.1154G>T c.(1153-1155)TGG>TTG p.W385L AMPH_uc003tgv.2_Missense_Mutation_p.W385L|AMPH_uc003tgt.2_Missense_Mutation_p.W138L|AMPH_uc003tgw.1_5'Flank|AMPH_uc010kxl.1_5'Flank NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 385 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 GCTTACCGTCCATAGGTCCCA 0.323 46 66 --- --- --- --- PASS YKT6 10652 broad.mit.edu 37 7 44247777 44247777 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr7:44247777G>T uc003tkm.2 + 5 596 c.439G>T c.(439-441)GAT>TAT p.D147Y YKT6_uc011kbv.1_Missense_Mutation_p.D147Y NM_006555 NP_006546 O15498 YKT6_HUMAN YKT6 v-SNARE protein 147 v-SNARE coiled-coil homology. ER to Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi|vesicle docking involved in exocytosis|vesicle targeting cytoplasmic vesicle membrane|cytosol|endoplasmic reticulum|endosome|Golgi membrane|integral to plasma membrane|mitochondrion|SNARE complex protein-cysteine S-palmitoleyltransferase activity|SNAP receptor activity 0 GGCCGAACTAGATGAGACCAA 0.493 11 25 --- --- --- --- PASS TNS3 64759 broad.mit.edu 37 7 47384613 47384613 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr7:47384613C>A uc003tnv.2 - 19 2842 c.2475G>T c.(2473-2475)CAG>CAT p.Q825H TNS3_uc003tnw.2_Missense_Mutation_p.Q825H NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 825 focal adhesion protein binding ovary(4) 4 TATCGAGGTCCTGGGGATAGC 0.488 19 53 --- --- --- --- PASS DMTF1 9988 broad.mit.edu 37 7 86813864 86813864 + Silent SNP A G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr7:86813864A>G uc003uih.2 + 11 1298 c.972A>G c.(970-972)AAA>AAG p.K324K DMTF1_uc003uii.2_Silent_p.K58K|DMTF1_uc003uij.2_Silent_p.K58K|DMTF1_uc011khb.1_Silent_p.K236K|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Silent_p.K324K|DMTF1_uc003uin.2_Silent_p.K58K NM_001142327 NP_001135799 Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 324 H-T-H motif (By similarity).|Interaction with CCND1, CCND2 and CCND3 (By similarity).|HTH myb-type.|Required for DNA-binding (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 Esophageal squamous(14;0.0058) GTCGTTCTAAATGGCTCAACT 0.478 42 52 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100675756 100675756 + Silent SNP A G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr7:100675756A>G uc003uxp.1 + 3 1112 c.1059A>G c.(1057-1059)ACA>ACG p.T353T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 353 Extracellular (Potential).|Ser-rich.|3.|59 X approximate tandem repeats. 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) AAATGAGCACACTTTCAATAA 0.478 113 347 --- --- --- --- PASS PPP1R3A 5506 broad.mit.edu 37 7 113518576 113518576 + Missense_Mutation SNP T A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr7:113518576T>A uc010ljy.1 - 4 2602 c.2571A>T c.(2569-2571)AAA>AAT p.K857N NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 857 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 TTGAAGTTGCTTTTTGATATT 0.368 46 149 --- --- --- --- PASS SLC13A1 6561 broad.mit.edu 37 7 122757565 122757565 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr7:122757565G>T uc003vkm.2 - 14 1635 c.1610C>A c.(1609-1611)GCT>GAT p.A537D SLC13A1_uc010lks.2_Missense_Mutation_p.A413D NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate 537 integral to membrane|plasma membrane sodium:sulfate symporter activity ovary(2) 2 Succinic acid(DB00139) AAAGACAATAGCATTGGGTGG 0.398 18 68 --- --- --- --- PASS MIR592 693177 broad.mit.edu 37 7 126698233 126698233 + RNA SNP A G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr7:126698233A>G hsa-mir-592|MI0003604 - c.6A>G GRM8_uc003vls.2_Intron|GRM8_uc003vlr.2_Intron|GRM8_uc011kof.1_Intron|GRM8_uc003vlt.2_Intron|GRM8_uc010lkz.1_Intron|GRM8_uc003vlu.1_Intron 0 ATGTCATGGCATAATATCATC 0.453 15 22 --- --- --- --- PASS ARF5 381 broad.mit.edu 37 7 127229539 127229539 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr7:127229539G>T uc003vmb.1 + 3 185 c.149G>T c.(148-150)GGC>GTC p.G50V ARF5_uc010llb.1_Missense_Mutation_p.G50V|FSCN3_uc003vmc.1_5'Flank NM_001662 NP_001653 P84085 ARF5_HUMAN ADP-ribosylation factor 5 50 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding ovary(1) 1 TTATCTGCAGGCTTCAATGTA 0.438 19 99 --- --- --- --- PASS FAM40B 57464 broad.mit.edu 37 7 129083936 129083936 + Missense_Mutation SNP C G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr7:129083936C>G uc011koy.1 + 3 311 c.271C>G c.(271-273)CAA>GAA p.Q91E FAM40B_uc003vow.2_Missense_Mutation_p.Q91E NM_020704 NP_065755 Q9ULQ0 FA40B_HUMAN hypothetical protein LOC57464 isoform a 91 0 TTTCAAGACTCAAGGTAATTC 0.383 3 42 --- --- --- --- PASS KCNH2 3757 broad.mit.edu 37 7 150649746 150649746 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr7:150649746C>A uc003wic.2 - 6 1337 c.1324G>T c.(1324-1326)GCT>TCT p.A442S KCNH2_uc003wib.2_Missense_Mutation_p.A102S|KCNH2_uc011kux.1_Missense_Mutation_p.A346S|KCNH2_uc003wid.2_Missense_Mutation_p.A102S|KCNH2_uc003wie.2_Missense_Mutation_p.A442S NM_000238 NP_000229 Q12809 KCNH2_HUMAN voltage-gated potassium channel, subfamily H, 442 Extracellular (Potential). blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity skin(3)|ovary(1) 4 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) CACTCGGTAGCAGGCGGGCCT 0.592 37 117 --- --- --- --- PASS PRKAG2 51422 broad.mit.edu 37 7 151573625 151573625 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr7:151573625G>T uc003wkk.2 - 1 692 c.81C>A c.(79-81)AGC>AGA p.S27R PRKAG2_uc010lqe.1_RNA|PRKAG2_uc003wkm.1_Missense_Mutation_p.S27R|uc003wko.1_5'Flank NM_016203 NP_057287 Q9UGJ0 AAKG2_HUMAN AMP-activated protein kinase gamma2 subunit 27 ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process AMP-activated protein kinase complex|cytosol|nucleoplasm ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding breast(1)|kidney(1) 2 all_neural(206;0.187) all_hematologic(28;0.0605) OV - Ovarian serous cystadenocarcinoma(82;0.00252) UCEC - Uterine corpus endometrioid carcinoma (81;0.185) GCCTCTTCTGGCTGGCATTTT 0.612 5 117 --- --- --- --- PASS DPP6 1804 broad.mit.edu 37 7 154561257 154561257 + Silent SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr7:154561257C>T uc003wlk.2 + 9 1143 c.1014C>T c.(1012-1014)ACC>ACT p.T338T DPP6_uc003wli.2_Silent_p.T274T|DPP6_uc003wlm.2_Silent_p.T276T|DPP6_uc011kvq.1_Silent_p.T231T NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 338 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TCTACCCCACCGTGAAGCCCT 0.552 10 27 --- --- --- --- PASS MSR1 4481 broad.mit.edu 37 8 16026296 16026296 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr8:16026296C>T uc003wwz.2 - 4 499 c.301G>A c.(301-303)GGA>AGA p.G101R MSR1_uc010lsu.2_Missense_Mutation_p.G119R|MSR1_uc003wxa.2_Missense_Mutation_p.G101R|MSR1_uc003wxb.2_Missense_Mutation_p.G101R|MSR1_uc011kxz.1_Intron NM_138715 NP_619729 P21757 MSRE_HUMAN macrophage scavenger receptor 1 isoform type 1 101 Spacer (Probable).|Extracellular (Potential). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity ovary(1) 1 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CTGTCATTTCCTTTTCCCGTG 0.373 27 75 --- --- --- --- PASS LPL 4023 broad.mit.edu 37 8 19809327 19809327 + Silent SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr8:19809327G>A uc003wzk.3 + 3 667 c.297G>A c.(295-297)CTG>CTA p.L99L NM_000237 NP_000228 P06858 LIPL_HUMAN lipoprotein lipase precursor 99 fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) TGGCCGCCCTGTACAAGAGAG 0.507 86 82 --- --- --- --- PASS GOT1L1 137362 broad.mit.edu 37 8 37793357 37793357 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr8:37793357G>T uc011lbj.1 - 7 894 c.794C>A c.(793-795)GCA>GAA p.A265E NM_152413 NP_689626 Q8NHS2 AATC2_HUMAN glutamic-oxaloacetic transaminase 1-like 1 265 biosynthetic process|cellular amino acid metabolic process cytoplasm pyridoxal phosphate binding|transaminase activity ovary(1) 1 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) GTTGTTGACTGCCACCACCAC 0.592 29 33 --- --- --- --- PASS MCM4 4173 broad.mit.edu 37 8 48874618 48874618 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr8:48874618C>A uc003xqk.1 + 4 336 c.241C>A c.(241-243)CCT>ACT p.P81T PRKDC_uc003xqi.2_5'Flank|PRKDC_uc003xqj.2_5'Flank|PRKDC_uc011ldh.1_5'Flank|MCM4_uc003xql.1_Missense_Mutation_p.P81T|MCM4_uc011ldi.1_Missense_Mutation_p.P81T|MCM4_uc010lxw.1_Intron NM_182746 NP_877423 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 81 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(2)|skin(2) 4 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) TATAGCTATCCCTCTTGACTT 0.438 22 39 --- --- --- --- PASS SULF1 23213 broad.mit.edu 37 8 70541858 70541858 + Missense_Mutation SNP G C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr8:70541858G>C uc010lza.1 + 19 2945 c.2228G>C c.(2227-2229)GGC>GCC p.G743A SULF1_uc003xyd.2_Missense_Mutation_p.G743A|SULF1_uc003xye.2_Missense_Mutation_p.G743A|SULF1_uc003xyf.2_Missense_Mutation_p.G743A|SULF1_uc003xyg.2_Missense_Mutation_p.G743A|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_5'UTR NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 743 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) AGCCTGCCTGGCCTCACTTGC 0.542 60 91 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77766606 77766606 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr8:77766606G>T uc003yav.2 + 10 7701 c.7314G>T c.(7312-7314)CAG>CAT p.Q2438H ZFHX4_uc003yau.1_Missense_Mutation_p.Q2483H|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q2438H NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2438 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CGTCTCTCCAGAACAGTCTAC 0.483 HNSCC(33;0.089) 33 78 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77768344 77768344 + Missense_Mutation SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr8:77768344G>A uc003yav.2 + 10 9439 c.9052G>A c.(9052-9054)GAA>AAA p.E3018K ZFHX4_uc003yau.1_Missense_Mutation_p.E3063K|ZFHX4_uc003yaw.1_Missense_Mutation_p.E3018K NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3018 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GGCACAGCAAGAACTTGATCG 0.537 HNSCC(33;0.089) 13 128 --- --- --- --- PASS VPS13B 157680 broad.mit.edu 37 8 100732644 100732644 + Silent SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr8:100732644G>A uc003yiv.2 + 38 6915 c.6804G>A c.(6802-6804)GAG>GAA p.E2268E VPS13B_uc003yiw.2_Silent_p.E2243E NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 2268 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ACCTTAATGAGGAGGGAAATT 0.343 19 36 --- --- --- --- PASS ZFPM2 23414 broad.mit.edu 37 8 106814257 106814257 + Missense_Mutation SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr8:106814257A>T uc003ymd.2 + 8 1970 c.1947A>T c.(1945-1947)CAA>CAT p.Q649H ZFPM2_uc011lhs.1_Missense_Mutation_p.Q380H NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 649 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TTTCCACTCAAACTAAGAAGC 0.418 17 32 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113276024 113276024 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr8:113276024G>T uc003ynu.2 - 61 9865 c.9706C>A c.(9706-9708)CCT>ACT p.P3236T CSMD3_uc003yns.2_Missense_Mutation_p.P2438T|CSMD3_uc003ynt.2_Missense_Mutation_p.P3196T|CSMD3_uc011lhx.1_Missense_Mutation_p.P3067T NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3236 Sushi 25.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ATCTGGGGAGGAGTTGGGCAG 0.408 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 15 48 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113353855 113353855 + Missense_Mutation SNP C T T rs139554725 byFrequency TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr8:113353855C>T uc003ynu.2 - 42 6662 c.6503G>A c.(6502-6504)CGA>CAA p.R2168Q CSMD3_uc003yns.2_Missense_Mutation_p.R1370Q|CSMD3_uc003ynt.2_Missense_Mutation_p.R2128Q|CSMD3_uc011lhx.1_Missense_Mutation_p.R2064Q NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2168 Extracellular (Potential).|CUB 12. 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 GGATCCACTTCGTACTTCCAA 0.368 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 3 45 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113966966 113966966 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr8:113966966G>T uc003ynu.2 - 8 1526 c.1367C>A c.(1366-1368)TCT>TAT p.S456Y CSMD3_uc003ynt.2_Missense_Mutation_p.S416Y|CSMD3_uc011lhx.1_Missense_Mutation_p.S352Y NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 456 Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AAATCCTCTAGATTTAAAATC 0.289 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 7 22 --- --- --- --- PASS FER1L6 654463 broad.mit.edu 37 8 125076656 125076656 + Missense_Mutation SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr8:125076656G>A uc003yqw.2 + 26 3603 c.3397G>A c.(3397-3399)GAT>AAT p.D1133N uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 1133 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TCCCCCAGCAGATCACATTTA 0.572 67 122 --- --- --- --- PASS ADCY8 114 broad.mit.edu 37 8 131793095 131793095 + Silent SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr8:131793095G>T uc003ytd.3 - 18 3553 c.3297C>A c.(3295-3297)GGC>GGA p.G1099G ADCY8_uc010mds.2_Silent_p.G968G NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 1099 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CGCCGATAACGCCAGCTACCA 0.577 HNSCC(32;0.087) 46 112 --- --- --- --- PASS C8orf31 286122 broad.mit.edu 37 8 144126182 144126182 + Missense_Mutation SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr8:144126182A>T uc003yxp.1 + 4 655 c.303A>T c.(301-303)CAA>CAT p.Q101H C8orf31_uc003yxq.1_RNA|C8orf31_uc003yxr.1_RNA NM_173687 NP_775958 Q8N9H6 CH031_HUMAN hypothetical protein LOC286122 101 ovary(1) 1 all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GCCCCTTCCAAGACCGCCAAG 0.617 19 27 --- --- --- --- PASS DENND4C 55667 broad.mit.edu 37 9 19341087 19341087 + Silent SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr9:19341087A>T uc003znq.2 + 16 2157 c.2124A>T c.(2122-2124)ATA>ATT p.I708I DENND4C_uc011lnc.1_Silent_p.I38I|DENND4C_uc011lnd.1_5'UTR|DENND4C_uc003znr.2_5'UTR|DENND4C_uc003zns.2_5'Flank NM_017925 NP_060395 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 708 integral to membrane ovary(1)|skin(1) 2 GAGAATTGATAACTAAAACAA 0.333 25 28 --- --- --- --- PASS CDKN2A 1029 broad.mit.edu 37 9 21971028 21971028 + Nonsense_Mutation SNP C T T rs121913389 TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr9:21971028C>T uc003zpk.2 - 2 542 c.330G>A c.(328-330)TGG>TGA p.W110* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.G166R NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 110 ANK 4. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.W110*(38)|p.?(13)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110fs*36(1)|p.W110C(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCAGACGGCCCCAGGCATCGC 0.736 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 13 8 --- --- --- --- PASS KIF24 347240 broad.mit.edu 37 9 34256481 34256481 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr9:34256481C>T uc003zua.3 - 11 3244 c.3124G>A c.(3124-3126)GCT>ACT p.A1042T KIF24_uc010mkb.2_Intron NM_194313 NP_919289 Q5T7B8 KIF24_HUMAN kinesin family member 24 1042 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0107) GCATATTCAGCATGCGTGCCT 0.577 40 41 --- --- --- --- PASS PGM5 5239 broad.mit.edu 37 9 71114186 71114186 + Missense_Mutation SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr9:71114186G>A uc004agr.2 + 10 1752 c.1523G>A c.(1522-1524)CGG>CAG p.R508Q NM_021965 NP_068800 Q15124 PGM5_HUMAN phosphoglucomutase 5 508 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity ovary(1)|pancreas(1) 2 CTCATCTTCCGGCTCAGTTCC 0.527 47 111 --- --- --- --- PASS C9orf71 169693 broad.mit.edu 37 9 71152321 71152321 + Missense_Mutation SNP G C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr9:71152321G>C uc004agt.2 - 2 420 c.367C>G c.(367-369)CCA>GCA p.P123A uc004ags.1_RNA NM_153237 NP_694969 Q8N6L7 CI071_HUMAN hypothetical protein LOC169693 123 integral to membrane 0 TATAGAGGTGGAGGAATGCCA 0.542 22 53 --- --- --- --- PASS TJP2 9414 broad.mit.edu 37 9 71863052 71863052 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr9:71863052C>T uc004ahe.2 + 19 2992 c.2792C>T c.(2791-2793)GCC>GTC p.A931V TJP2_uc011lrs.1_Missense_Mutation_p.A908V|TJP2_uc004ahd.2_Missense_Mutation_p.A931V|TJP2_uc004ahf.2_Missense_Mutation_p.A931V|TJP2_uc011lru.1_Missense_Mutation_p.A935V|TJP2_uc011lrv.1_Missense_Mutation_p.A953V|TJP2_uc010mom.1_Missense_Mutation_p.A91V NM_004817 NP_004808 Q9UDY2 ZO2_HUMAN tight junction protein 2 (zona occludens 2) 931 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding 0 GAAGGAGGCGCCTACACTGAC 0.622 20 35 --- --- --- --- PASS DAPK1 1612 broad.mit.edu 37 9 90262220 90262220 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr9:90262220G>T uc004apc.2 + 14 1369 c.1231G>T c.(1231-1233)GGC>TGC p.G411C DAPK1_uc004ape.2_Missense_Mutation_p.G411C|DAPK1_uc004apd.2_Missense_Mutation_p.G411C|DAPK1_uc011ltg.1_Missense_Mutation_p.G411C|DAPK1_uc011lth.1_Missense_Mutation_p.G148C|DAPK1_uc004apf.1_5'UTR NM_004938 NP_004929 P53355 DAPK1_HUMAN death-associated protein kinase 1 411 ANK 2. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity ovary(1)|breast(1) 2 TTTCCTGCAGGGCGGGTCCAA 0.507 Chronic_Lymphocytic_Leukemia_Familial_Clustering_of 44 89 --- --- --- --- PASS S1PR3 1903 broad.mit.edu 37 9 91616485 91616485 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr9:91616485G>T uc004aqe.2 + 2 766 c.370G>T c.(370-372)GCG>TCG p.A124S NM_005226 NP_005217 Q99500 S1PR3_HUMAN sphingosine-1-phosphate receptor 3 124 Helical; Name=3; (By similarity). anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity ovary(2)|lung(1)|central_nervous_system(1)|skin(1) 5 GGCCCTTGGGGCGTCCACCTG 0.567 OREG0019291 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 55 --- --- --- --- PASS ROR2 4920 broad.mit.edu 37 9 94486886 94486886 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr9:94486886C>A uc004arj.1 - 9 2089 c.1890G>T c.(1888-1890)AAG>AAT p.K630N ROR2_uc004ari.1_Missense_Mutation_p.K490N NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 630 Cytoplasmic (Potential).|Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1) 20 AGTCTGAGATCTTCACGTTCA 0.592 36 92 --- --- --- --- PASS KIAA1529 57653 broad.mit.edu 37 9 100079491 100079491 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr9:100079491G>T uc011lut.1 + 21 2262 c.1489G>T c.(1489-1491)GCC>TCC p.A497S KIAA1529_uc004axe.1_Missense_Mutation_p.A497S|KIAA1529_uc004axg.1_Missense_Mutation_p.A358S|KIAA1529_uc011lus.1_Missense_Mutation_p.A315S|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.A358S|KIAA1529_uc011luv.1_Missense_Mutation_p.A355S NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) CAAGAAGGAGGCCCTGCTGCA 0.622 9 10 --- --- --- --- PASS TEX10 54881 broad.mit.edu 37 9 103082603 103082603 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr9:103082603C>A uc004bas.2 - 11 2361 c.2146G>T c.(2146-2148)GTG>TTG p.V716L TEX10_uc011lvf.1_Missense_Mutation_p.V555L|TEX10_uc011lvg.1_Missense_Mutation_p.V719L NM_017746 NP_060216 Q9NXF1 TEX10_HUMAN testis expressed 10 isoform 1 716 integral to membrane|MLL1 complex|nuclear membrane|nucleolus binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) TAGAGAAGCACAGGGGAAAGC 0.383 9 19 --- --- --- --- PASS PTPN3 5774 broad.mit.edu 37 9 112151514 112151514 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr9:112151514C>T uc004bed.2 - 22 2364 c.2252G>A c.(2251-2253)CGG>CAG p.R751Q PTPN3_uc004beb.2_Missense_Mutation_p.R620Q|PTPN3_uc004bec.2_Missense_Mutation_p.R575Q|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.R706Q|PTPN3_uc011lwh.1_Missense_Mutation_p.R597Q|PTPN3_uc011lwd.1_Missense_Mutation_p.R219Q|PTPN3_uc011lwe.1_Missense_Mutation_p.R464Q|PTPN3_uc011lwf.1_Missense_Mutation_p.R419Q NM_002829 NP_002820 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 751 Tyrosine-protein phosphatase. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity ovary(3) 3 GCTACTTACCCGCCCTCGTTC 0.512 5 56 --- --- --- --- PASS PTPN3 5774 broad.mit.edu 37 9 112182805 112182805 + Silent SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr9:112182805G>A uc004bed.2 - 14 1324 c.1212C>T c.(1210-1212)ACC>ACT p.T404T PTPN3_uc004beb.2_Silent_p.T273T|PTPN3_uc004bec.2_Silent_p.T228T|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.T359T|PTPN3_uc011lwh.1_Silent_p.T250T|PTPN3_uc011lwd.1_5'Flank|PTPN3_uc011lwe.1_Silent_p.T117T|PTPN3_uc011lwf.1_Silent_p.T72T NM_002829 NP_002820 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 404 negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity ovary(3) 3 CCGTGATGTAGGTCATTTCAT 0.517 6 70 --- --- --- --- PASS SLC46A2 57864 broad.mit.edu 37 9 115652054 115652054 + Missense_Mutation SNP A G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr9:115652054A>G uc004bgk.2 - 1 1140 c.908T>C c.(907-909)GTG>GCG p.V303A NM_033051 NP_149040 Q9BY10 TSCOT_HUMAN solute carrier family 46, member 2 303 Helical; Name=7; (Potential). integral to membrane|plasma membrane symporter activity central_nervous_system(1) 1 AAGAGGGATCACGTCCACTGT 0.532 22 36 --- --- --- --- PASS ASTN2 23245 broad.mit.edu 37 9 119903667 119903667 + Missense_Mutation SNP T G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr9:119903667T>G uc004bjs.1 - 4 1207 c.1106A>C c.(1105-1107)CAG>CCG p.Q369P ASTN2_uc004bjr.1_Missense_Mutation_p.Q369P|ASTN2_uc004bjt.1_Intron NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 369 Cytoplasmic (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 TGGTTGCAGCTGACCGATCTC 0.587 19 56 --- --- --- --- PASS PIP5KL1 138429 broad.mit.edu 37 9 130689478 130689478 + Missense_Mutation SNP T C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr9:130689478T>C uc011mao.1 - 7 649 c.604A>G c.(604-606)ATC>GTC p.I202V PIP5KL1_uc004bsu.2_5'UTR NM_001135219 NP_001128691 Q5T9C9 PI5L1_HUMAN phosphatidylinositol-4-phosphate 5-kinase-like 1 202 PIPK. cytoplasm|membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding lung(1)|kidney(1) 2 TGCATGACGATGAAGTACGTC 0.692 13 37 --- --- --- --- PASS OBP2A 29991 broad.mit.edu 37 9 138439085 138439085 + Missense_Mutation SNP T C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr9:138439085T>C uc004cgb.2 + 3 310 c.268T>C c.(268-270)TTC>CTC p.F90L OBP2A_uc004cgc.2_Missense_Mutation_p.F90L|OBP2A_uc010nau.2_RNA|OBP2A_uc010nav.2_Missense_Mutation_p.I45T NM_014582 NP_055397 Q9NY56 OBP2A_HUMAN odorant binding protein 2A precursor 90 F -> Y (in Ref. 1; CAB71326). response to stimulus|sensory perception of smell extracellular region odorant binding|transporter activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) GCCTGGCAAATTCAGCGCCTG 0.642 26 45 --- --- --- --- PASS LCN9 392399 broad.mit.edu 37 9 138556117 138556117 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr9:138556117G>T uc004cgk.1 + 2 206 c.206G>T c.(205-207)GGC>GTC p.G69V NM_001001676 NP_001001676 Q8WX39 LCN9_HUMAN lipocalin 9 69 extracellular region pheromone binding|transporter activity large_intestine(2) 2 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05) TTGAAGAACGGCAGCCTAATA 0.473 37 119 --- --- --- --- PASS AKR1C3 8644 broad.mit.edu 37 10 5141522 5141522 + Missense_Mutation SNP A G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr10:5141522A>G uc001ihr.2 + 5 634 c.451A>G c.(451-453)ATG>GTG p.M151V AKR1C3_uc010qap.1_Missense_Mutation_p.M128V|AKR1C3_uc001ihu.2_Missense_Mutation_p.M151V NM_003739 NP_003730 P42330 AK1C3_HUMAN aldo-keto reductase family 1, member C3 151 prostaglandin metabolic process cytoplasm aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity skin(1) 1 Dimethyl sulfoxide(DB01093)|NADH(DB00157) TCCACAGGCCATGGAGAAGTG 0.473 27 35 --- --- --- --- PASS ANKRD26 22852 broad.mit.edu 37 10 27355424 27355424 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr10:27355424C>A uc001ith.2 - 11 1433 c.1261G>T c.(1261-1263)GAT>TAT p.D421Y ANKRD26_uc001itg.2_Missense_Mutation_p.D140Y|ANKRD26_uc009xku.1_Missense_Mutation_p.D421Y NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 421 centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 ACCTCAGAATCCCAAGGTGAT 0.313 40 73 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37508455 37508455 + Missense_Mutation SNP A G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr10:37508455A>G uc001iza.1 + 34 3746 c.3647A>G c.(3646-3648)GAT>GGT p.D1216G NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1272 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 TATGCAGGAGATGCTCTAAGA 0.373 15 24 --- --- --- --- PASS ARHGAP22 58504 broad.mit.edu 37 10 49667886 49667886 + Missense_Mutation SNP T C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr10:49667886T>C uc001jgt.2 - 5 797 c.500A>G c.(499-501)TAT>TGT p.Y167C ARHGAP22_uc001jgs.2_Missense_Mutation_p.Y77C|ARHGAP22_uc001jgu.2_Missense_Mutation_p.Y183C|ARHGAP22_uc010qgl.1_Missense_Mutation_p.Y124C|ARHGAP22_uc010qgm.1_Missense_Mutation_p.Y173C|ARHGAP22_uc001jgv.2_5'UTR NM_021226 NP_067049 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 2 167 Rho-GAP. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity ovary(1) 1 GCGGGGGCCATACTTCCGCTC 0.652 25 25 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55849791 55849791 + Nonsense_Mutation SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr10:55849791A>T uc001jju.1 - 16 2345 c.1950T>A c.(1948-1950)TAT>TAA p.Y650* PCDH15_uc010qhq.1_Nonsense_Mutation_p.Y655*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.Y650*|PCDH15_uc010qhs.1_Nonsense_Mutation_p.Y662*|PCDH15_uc010qht.1_Nonsense_Mutation_p.Y657*|PCDH15_uc010qhu.1_Nonsense_Mutation_p.Y650*|PCDH15_uc001jjv.1_Nonsense_Mutation_p.Y628*|PCDH15_uc010qhv.1_Nonsense_Mutation_p.Y650*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.Y613*|PCDH15_uc010qhx.1_Intron|PCDH15_uc010qhy.1_Nonsense_Mutation_p.Y655*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.Y650*|PCDH15_uc010qia.1_Nonsense_Mutation_p.Y628*|PCDH15_uc010qib.1_Nonsense_Mutation_p.Y628*|PCDH15_uc001jjw.2_Nonsense_Mutation_p.Y650* NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 650 Cadherin 6.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TCTCAATGGCATATGTTATTG 0.338 HNSCC(58;0.16) 23 43 --- --- --- --- PASS CDHR1 92211 broad.mit.edu 37 10 85973843 85973843 + Silent SNP C G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr10:85973843C>G uc001kcv.2 + 17 2046 c.2046C>G c.(2044-2046)CTC>CTG p.L682L CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Silent_p.L386L|CDHR1_uc001kcx.2_5'UTR NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN protocadherin 21 precursor 682 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion calcium ion binding|receptor activity ovary(1) 1 TTCAGACCCTCTCCCGGAGCC 0.562 45 39 --- --- --- --- PASS PTEN 5728 broad.mit.edu 37 10 89692790 89692790 + Missense_Mutation SNP G C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr10:89692790G>C uc001kfb.2 + 6 1305 c.274G>C c.(274-276)GAC>CAC p.D92H NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 92 Phosphatase tensin-type. D->A: 700-fold reduction in phosphatase activity towards PtdIns(3,4,5)P3. Loss of protein phosphatase activity. Unable to inhibit focal adhesion formation. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R55fs*1(4)|p.D92H(3)|p.D92V(2)|p.?(2)|p.Y27fs*1(2)|p.D92G(2)|p.D92N(2)|p.Y27_N212>Y(2)|p.D92fs*7(1)|p.D92Y(1)|p.D92E(1)|p.Q87_P96del(1)|p.D92A(1)|p.F90_P95>L(1)|p.N82_P95del(1)|p.F56fs*2(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TCCTTTTGAAGACCATAACCC 0.333 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 3 53 --- --- --- --- PASS PTEN 5728 broad.mit.edu 37 10 89692905 89692905 + Missense_Mutation SNP G A A rs121913292 TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr10:89692905G>A uc001kfb.2 + 6 1420 c.389G>A c.(388-390)CGA>CAA p.R130Q NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 130 Phosphatase tensin-type. R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3). R->M: Does not affect the ability to inhibit AKT/PKB activation. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R130G(65)|p.R130*(61)|p.R130Q(43)|p.R130fs*4(12)|p.R130L(7)|p.R55fs*1(4)|p.R130P(4)|p.K128_R130del(3)|p.Y27_N212>Y(2)|p.?(2)|p.Y27fs*1(2)|p.R130R(1)|p.K128fs*47(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GGAAAGGGACGAACTGGTGTA 0.403 R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)|R130Q(JHUEM1_ENDOMETRIUM) 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 17 56 --- --- --- --- PASS TM9SF3 56889 broad.mit.edu 37 10 98336540 98336540 + Missense_Mutation SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr10:98336540G>A uc001kmm.3 - 2 366 c.149C>T c.(148-150)CCC>CTC p.P50L TM9SF3_uc010qot.1_Missense_Mutation_p.P50L NM_020123 NP_064508 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 precursor 50 integral to membrane binding 0 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) ATTATGGTAGGGCCCAACAGT 0.333 17 73 --- --- --- --- PASS NDUFB8 4714 broad.mit.edu 37 10 102286181 102286181 + Missense_Mutation SNP T A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr10:102286181T>A uc001kri.1 - 4 471 c.443A>T c.(442-444)GAC>GTC p.D148V SEC31B_uc009xwo.1_5'UTR|SEC31B_uc010qpq.1_Intron|SEC31B_uc010qpr.1_RNA NM_005004 NP_004995 O95169 NDUB8_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 148 Helical; (Potential). mitochondrial electron transport, NADH to ubiquinone|transport endoplasmic reticulum|integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 Colorectal(252;0.234) Epithelial(162;5.68e-10)|all cancers(201;4.05e-08) NADH(DB00157) AGGGTACACGTCCCCCACCCA 0.532 22 21 --- --- --- --- PASS XPNPEP1 7511 broad.mit.edu 37 10 111631611 111631611 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr10:111631611G>T uc001kyp.1 - 17 1472 c.1332C>A c.(1330-1332)TTC>TTA p.F444L XPNPEP1_uc009xxt.1_Missense_Mutation_p.F463L|XPNPEP1_uc001kyq.1_Missense_Mutation_p.F373L NM_020383 NP_065116 Q9NQW7 XPP1_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 1, 444 bradykinin catabolic process|proteolysis manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity ovary(3)|pancreas(1) 4 Breast(234;0.174) Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721) GGACATATGTGAAGCATTCCT 0.483 44 49 --- --- --- --- PASS DUSP5 1847 broad.mit.edu 37 10 112258257 112258257 + Missense_Mutation SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr10:112258257A>T uc001kzd.2 + 1 633 c.378A>T c.(376-378)AAA>AAT p.K126N NM_004419 NP_004410 Q16690 DUS5_HUMAN dual specificity phosphatase 5 126 Rhodanese. endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1) 1 Breast(234;0.0848) Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12) ACTTCCTCAAAGGTGAGCGCT 0.736 2 1 --- --- --- --- PASS HABP2 3026 broad.mit.edu 37 10 115345564 115345564 + Missense_Mutation SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr10:115345564G>A uc001lai.3 + 12 1488 c.1385G>A c.(1384-1386)CGC>CAC p.R462H NM_004132 NP_004123 Q14520 HABP2_HUMAN hyaluronan binding protein 2 preproprotein 462 Peptidase S1. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) AAAGGGTCCCGCCAGCTCCTG 0.532 22 15 --- --- --- --- PASS ATRNL1 26033 broad.mit.edu 37 10 117486838 117486838 + Missense_Mutation SNP A C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr10:117486838A>C uc001lcg.2 + 27 4262 c.3876A>C c.(3874-3876)CAA>CAC p.Q1292H ATRNL1_uc010qsm.1_Missense_Mutation_p.Q421H|ATRNL1_uc010qsn.1_RNA NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 1292 Cytoplasmic (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) GAGCTGAACAAACAGAGTTTC 0.473 3 31 --- --- --- --- PASS ADAM12 8038 broad.mit.edu 37 10 127753428 127753428 + Missense_Mutation SNP T C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr10:127753428T>C uc001ljk.2 - 14 1978 c.1565A>G c.(1564-1566)TAC>TGC p.Y522C ADAM12_uc010qul.1_Missense_Mutation_p.Y473C|ADAM12_uc001ljm.2_Missense_Mutation_p.Y522C|ADAM12_uc001ljn.2_Missense_Mutation_p.Y519C|ADAM12_uc001ljl.3_Missense_Mutation_p.Y519C NM_003474 NP_003465 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 isoform 1 522 Extracellular (Potential).|Cys-rich. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 9 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) GATGCCATTGTAGCAGTAGCC 0.617 9 5 --- --- --- --- PASS DOCK1 1793 broad.mit.edu 37 10 129046349 129046349 + Silent SNP T C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr10:129046349T>C uc001ljt.2 + 28 2926 c.2862T>C c.(2860-2862)TTT>TTC p.F954F DOCK1_uc010qun.1_Silent_p.F975F NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 954 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) TCAAGACTTTTGGGAAAATGA 0.393 24 21 --- --- --- --- PASS CD151 977 broad.mit.edu 37 11 837554 837554 + Missense_Mutation SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:837554G>A uc001lry.2 + 7 695 c.551G>A c.(550-552)TGC>TAC p.C184Y CD151_uc001lrx.2_RNA|CD151_uc001lrz.2_Missense_Mutation_p.C184Y|CD151_uc001lsa.2_Missense_Mutation_p.C184Y|CD151_uc001lsb.2_Missense_Mutation_p.C184Y NM_004357 NP_004348 P48509 CD151_HUMAN CD151 antigen 184 Extracellular (Potential). cell adhesion|hemidesmosome assembly cytosol|integral to plasma membrane|membrane fraction protein binding 0 all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227) all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCAGACAGCTGCTGCAAGACG 0.602 21 21 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1258386 1258386 + Missense_Mutation SNP C G G rs35573593 TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:1258386C>G uc009ycr.1 + 41 5494 c.5368C>G c.(5368-5370)CGC>GGC p.R1790G MUC5B_uc009yct.1_Missense_Mutation_p.R1097G|MUC5B_uc001ltb.2_Missense_Mutation_p.R1100G|MUC5B_uc001lta.2_Missense_Mutation_p.R765G NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 1097 VWFD 3. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CGCCGCCTGCCGCTCCCAGGT 0.687 7 7 --- --- --- --- PASS OR51A7 119687 broad.mit.edu 37 11 4928880 4928880 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:4928880C>A uc010qyq.1 + 1 281 c.281C>A c.(280-282)CCT>CAT p.P94H NM_001004749 NP_001004749 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, 94 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GGAATTTCACCTAATGCCTGC 0.453 38 37 --- --- --- --- PASS ABCC8 6833 broad.mit.edu 37 11 17482100 17482100 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:17482100C>T uc001mnc.2 - 6 1072 c.946G>A c.(946-948)GGG>AGG p.G316R ABCC8_uc010rcy.1_Missense_Mutation_p.G315R NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 316 Helical; Name=6; (By similarity).|ABC transmembrane type-1 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CACAGTGGCCCGGCGAAGCCC 0.647 49 184 --- --- --- --- PASS MRGPRX4 117196 broad.mit.edu 37 11 18195011 18195011 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:18195011G>T uc001mnv.1 + 1 628 c.208G>T c.(208-210)GCA>TCA p.A70S NM_054032 NP_473373 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 70 Helical; Name=2; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 CAACCTGGCCGCAGCAGACTT 0.527 82 53 --- --- --- --- PASS MRGPRX4 117196 broad.mit.edu 37 11 18195313 18195313 + Silent SNP T C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:18195313T>C uc001mnv.1 + 1 930 c.510T>C c.(508-510)TCT>TCC p.S170S NM_054032 NP_473373 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 170 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 GTGCTGATTCTAGTTGGTGTG 0.517 258 196 --- --- --- --- PASS NAV2 89797 broad.mit.edu 37 11 19735336 19735336 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:19735336C>A uc010rdm.1 + 1 456 c.95C>A c.(94-96)GCG>GAG p.A32E NAV2_uc001mpp.2_Intron|NAV2_uc001mpr.3_Missense_Mutation_p.A32E|LOC100126784_uc010rdl.1_3'UTR NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 32 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 ccggcccgggcgggcccccAG 0.542 29 27 --- --- --- --- PASS CKAP5 9793 broad.mit.edu 37 11 46782308 46782308 + Silent SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:46782308G>A uc001ndi.1 - 33 4358 c.4248C>T c.(4246-4248)CTC>CTT p.L1416L CKAP5_uc009ylg.1_Silent_p.L1302L|CKAP5_uc001ndj.1_Silent_p.L1416L|CKAP5_uc001ndh.1_Silent_p.L345L NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein 1416 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding|protein binding ovary(1)|skin(1) 2 TCCTCTCCTCGAGCATGCTCA 0.403 8 90 --- --- --- --- PASS OR4C12 283093 broad.mit.edu 37 11 50003685 50003685 + Missense_Mutation SNP C G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:50003685C>G uc010ria.1 - 1 353 c.353G>C c.(352-354)TGT>TCT p.C118S NM_001005270 NP_001005270 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, 118 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 ATAGCAGTCACAGGCCATCAC 0.488 79 115 --- --- --- --- PASS OR4C46 119749 broad.mit.edu 37 11 51516092 51516092 + Missense_Mutation SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:51516092A>T uc010ric.1 + 1 811 c.811A>T c.(811-813)ATA>TTA p.I271L NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 271 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AGCAGTTGCTATATTCTACAC 0.388 21 48 --- --- --- --- PASS OR4A16 81327 broad.mit.edu 37 11 55110791 55110791 + Missense_Mutation SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:55110791G>A uc010rie.1 + 1 115 c.115G>A c.(115-117)GGA>AGA p.G39R NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 39 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 GACAATGGTGGGAAACCTCCT 0.418 24 73 --- --- --- --- PASS OR4C15 81309 broad.mit.edu 37 11 55322712 55322712 + Silent SNP A G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:55322712A>G uc010rig.1 + 1 930 c.930A>G c.(928-930)GTA>GTG p.V310V NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 256 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GCATATTTGTATATACACGAC 0.413 HNSCC(20;0.049) 80 122 --- --- --- --- PASS OR10AG1 282770 broad.mit.edu 37 11 55735395 55735395 + Missense_Mutation SNP T A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:55735395T>A uc010rit.1 - 1 545 c.545A>T c.(544-546)AAC>ATC p.N182I NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 182 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) CACAAATATGTTTCCACAAGC 0.398 4 36 --- --- --- --- PASS OR8J3 81168 broad.mit.edu 37 11 55904407 55904407 + Missense_Mutation SNP T A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:55904407T>A uc010riz.1 - 1 788 c.788A>T c.(787-789)CAA>CTA p.Q263L NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 263 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) GTGGTTGGTTTGGGGCTGCAA 0.428 31 86 --- --- --- --- PASS OR9G9 504191 broad.mit.edu 37 11 56468108 56468108 + Missense_Mutation SNP T A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:56468108T>A uc010rjn.1 + 1 245 c.245T>A c.(244-246)GTG>GAG p.V82E NM_001013358 NP_001013376 P0C7N8 OR9G9_HUMAN olfactory receptor, family 9, subfamily G, 82 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AAGATCCTAGTGACCTGCATC 0.483 14 138 --- --- --- --- PASS MS4A13 503497 broad.mit.edu 37 11 60296849 60296849 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:60296849G>T uc001nps.2 + 6 641 c.318G>T c.(316-318)AGG>AGT p.R106S MS4A13_uc009ync.2_Missense_Mutation_p.R66S|MS4A13_uc009ynd.2_Missense_Mutation_p.R47S NM_001012417 NP_001012417 Q5J8X5 M4A13_HUMAN membrane-spanning 4-domains, subfamily A, member 106 integral to membrane 0 AACTTGGGAGGGAAGTATCAC 0.373 11 60 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62289139 62289139 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:62289139C>A uc001ntl.2 - 5 13050 c.12750G>T c.(12748-12750)ATG>ATT p.M4250I AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4250 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CTTTGATGTTCATCTCAGGCA 0.468 96 291 --- --- --- --- PASS SYVN1 84447 broad.mit.edu 37 11 64895953 64895953 + Silent SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:64895953C>T uc001odb.2 - 16 1849 c.1755G>A c.(1753-1755)GAG>GAA p.E585E SYVN1_uc001odc.2_Silent_p.E584E|SYVN1_uc009yqc.2_Silent_p.E533E NM_172230 NP_757385 Q86TM6 SYVN1_HUMAN synoviolin 1 isoform b 585 Cytoplasmic (Potential). ER-associated protein catabolic process|response to stress endoplasmic reticulum membrane|integral to membrane|nucleus acid-amino acid ligase activity|protein binding|zinc ion binding ovary(1) 1 TGCCCACTGACTCAGGAGCTG 0.617 5 57 --- --- --- --- PASS DPF2 5977 broad.mit.edu 37 11 65113767 65113767 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:65113767G>T uc001odm.2 + 9 966 c.954G>T c.(952-954)AAG>AAT p.K318N DPF2_uc001odn.2_Missense_Mutation_p.K332N|DPF2_uc010roe.1_Intron NM_006268 NP_006259 Q92785 REQU_HUMAN D4, zinc and double PHD fingers family 2 318 PHD-type 1. apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus nucleic acid binding|zinc ion binding ovary(1) 1 CGGCAGTGAAGACATACCGCT 0.567 4 53 --- --- --- --- PASS SART1 9092 broad.mit.edu 37 11 65733956 65733956 + Missense_Mutation SNP C G G rs144548769 TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:65733956C>G uc001ogl.2 + 9 1209 c.1117C>G c.(1117-1119)CGG>GGG p.R373G SART1_uc010rot.1_Missense_Mutation_p.C258W NM_005146 NP_005137 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T 373 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol ovary(1) 1 GGCCAAGCTGCGGCTGCAGGC 0.677 5 22 --- --- --- --- PASS PDE2A 5138 broad.mit.edu 37 11 72294509 72294509 + Silent SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:72294509G>T uc010rrc.1 - 20 1944 c.1701C>A c.(1699-1701)GCC>GCA p.A567A PDE2A_uc001oso.2_Silent_p.A546A|PDE2A_uc010rra.1_Silent_p.A560A|PDE2A_uc001osn.2_Silent_p.A311A|PDE2A_uc010rrb.1_Silent_p.A558A|PDE2A_uc010rrd.1_Silent_p.A452A NM_002599 NP_002590 O00408 PDE2A_HUMAN phosphodiesterase 2A isoform 1 567 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(2)|breast(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) TCATCTCATTGGCCAGGTGGC 0.537 39 90 --- --- --- --- PASS DLG2 1740 broad.mit.edu 37 11 83183809 83183809 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:83183809C>T uc001paj.2 - 18 2293 c.1990G>A c.(1990-1992)GAC>AAC p.D664N DLG2_uc001pai.2_Missense_Mutation_p.D543N|DLG2_uc010rsy.1_Missense_Mutation_p.D613N|DLG2_uc010rsz.1_Missense_Mutation_p.D660N|DLG2_uc010rta.1_Missense_Mutation_p.D646N|DLG2_uc001pak.2_Missense_Mutation_p.D769N|DLG2_uc010rtb.1_Missense_Mutation_p.D631N|DLG2_uc010rsw.1_Missense_Mutation_p.D128N|DLG2_uc010rsx.1_Missense_Mutation_p.D141N NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 664 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) AGAATGAGGTCTTCTTGTCCT 0.428 30 70 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92534277 92534277 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:92534277C>A uc001pdj.3 + 9 8115 c.8098C>A c.(8098-8100)CCC>ACC p.P2700T NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2700 Cadherin 24.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCACGTCTTGCCCCCTGAAAC 0.463 TCGA Ovarian(4;0.039) 19 42 --- --- --- --- PASS MED17 9440 broad.mit.edu 37 11 93529576 93529576 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:93529576G>T uc001pem.3 + 7 1288 c.1013G>T c.(1012-1014)AGC>ATC p.S338I NM_004268 NP_004259 Q9NVC6 MED17_HUMAN mediator complex subunit 17 338 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TTATAAATAGGCTTGCAGTTA 0.328 15 66 --- --- --- --- PASS MED17 9440 broad.mit.edu 37 11 93542995 93542995 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:93542995C>T uc001pem.3 + 11 1972 c.1697C>T c.(1696-1698)GCA>GTA p.A566V NM_004268 NP_004259 Q9NVC6 MED17_HUMAN mediator complex subunit 17 566 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ATTGGTAATGCATCTGCCATC 0.483 50 161 --- --- --- --- PASS MED17 9440 broad.mit.edu 37 11 93542996 93542996 + Silent SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:93542996A>T uc001pem.3 + 11 1973 c.1698A>T c.(1696-1698)GCA>GCT p.A566A NM_004268 NP_004259 Q9NVC6 MED17_HUMAN mediator complex subunit 17 566 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TTGGTAATGCATCTGCCATCA 0.478 50 163 --- --- --- --- PASS MMP8 4317 broad.mit.edu 37 11 102586033 102586033 + Splice_Site SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:102586033A>T uc001phe.2 - 7 1135 c.1036_splice c.e7+1 p.G346_splice MMP8_uc010rut.1_Splice_Site_p.D281_splice|MMP8_uc010ruu.1_Splice_Site_p.G323_splice NM_002424 NP_002415 P22894 MMP8_HUMAN matrix metalloproteinase 8 preproprotein collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) TTAGGAAGTTACCTTTAAATA 0.408 18 20 --- --- --- --- PASS SORL1 6653 broad.mit.edu 37 11 121420786 121420786 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:121420786G>T uc001pxx.2 + 15 2249 c.2169G>T c.(2167-2169)AGG>AGT p.R723S NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 723 Extracellular (Potential). cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CTACTTACAGGAGAACGAGAG 0.507 19 54 --- --- --- --- PASS TMEM225 338661 broad.mit.edu 37 11 123756055 123756055 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:123756055C>T uc001pzi.2 - 1 286 c.78G>A c.(76-78)ATG>ATA p.M26I NM_001013743 NP_001013765 Q6GV28 TM225_HUMAN transmembrane protein 225 26 Helical; (Potential). integral to membrane upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 3 AGGTGATTCCCATCACCATTA 0.428 34 56 --- --- --- --- PASS OR8D4 338662 broad.mit.edu 37 11 123777298 123777298 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:123777298C>A uc010saa.1 + 1 160 c.160C>A c.(160-162)CAA>AAA p.Q54K NM_001005197 NP_001005197 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, 54 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) GCTGAATCGTCAACTTCATAC 0.408 37 107 --- --- --- --- PASS PUS3 83480 broad.mit.edu 37 11 125765462 125765462 + Missense_Mutation SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:125765462G>A uc001qcy.2 - 3 699 c.601C>T c.(601-603)CGT>TGT p.R201C HYLS1_uc009zbv.2_Intron|HYLS1_uc001qcx.3_Intron NM_031307 NP_112597 Q9BZE2 PUS3_HUMAN pseudouridylate synthase 3 201 nucleus RNA binding ovary(1) 1 all_hematologic(175;0.177) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043) AAATCAGCACGAGGGAAAAAA 0.473 8 56 --- --- --- --- PASS NTM 50863 broad.mit.edu 37 11 131781445 131781445 + Missense_Mutation SNP C T T rs143802759 TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr11:131781445C>T uc001qgp.2 + 1 734 c.70C>T c.(70-72)CTT>TTT p.L24F NTM_uc001qgm.2_Intron|NTM_uc010sch.1_Intron|NTM_uc010sci.1_Intron|NTM_uc010scj.1_Intron|NTM_uc001qgo.2_Missense_Mutation_p.L24F|NTM_uc001qgq.2_Missense_Mutation_p.L24F NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 24 cell adhesion|neuron recognition anchored to membrane|plasma membrane p.L24F(1) ovary(4)|central_nervous_system(1)|skin(1) 6 GCTGCTGTTCCTTGTACCCAC 0.627 OREG0021537 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 49 --- --- --- --- PASS CACNA1C 775 broad.mit.edu 37 12 2694567 2694567 + Nonsense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:2694567G>T uc009zdu.1 + 17 2678 c.2365G>T c.(2365-2367)GAG>TAG p.E789* CACNA1C_uc009zdv.1_Nonsense_Mutation_p.E786*|CACNA1C_uc001qkb.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qkc.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qke.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qkf.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qjz.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qkd.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qkg.2_Nonsense_Mutation_p.E789*|CACNA1C_uc009zdw.1_Nonsense_Mutation_p.E789*|CACNA1C_uc001qkh.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qkl.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qkn.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qko.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qkp.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qkr.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qku.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qkq.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qks.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qkt.2_Nonsense_Mutation_p.E789*|CACNA1C_uc001qka.1_Nonsense_Mutation_p.E324*|CACNA1C_uc001qki.1_Nonsense_Mutation_p.E525*|CACNA1C_uc001qkj.1_Nonsense_Mutation_p.E525*|CACNA1C_uc001qkk.1_Nonsense_Mutation_p.E525*|CACNA1C_uc001qkm.1_Nonsense_Mutation_p.E525*|CACNA1C_uc001qkw.2_Nonsense_Mutation_p.E78* NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 789 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GAAGAAACAAGAGTTGGTGGA 0.542 7 28 --- --- --- --- PASS KCNA6 3742 broad.mit.edu 37 12 4920672 4920672 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:4920672C>A uc001qng.2 + 1 2331 c.1465C>A c.(1465-1467)CTG>ATG p.L489M NM_002235 NP_002226 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related 489 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(2)|ovary(1) 3 TGCGCCGGACCTGAGGGCAAC 0.597 HNSCC(72;0.22) 20 69 --- --- --- --- PASS CLEC1B 51266 broad.mit.edu 37 12 10149546 10149546 + Missense_Mutation SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:10149546A>T uc001qwu.2 - 4 537 c.337T>A c.(337-339)TGC>AGC p.C113S CLEC1B_uc009zhd.2_Missense_Mutation_p.C80S NM_016509 NP_057593 Q9P126 CLC1B_HUMAN C-type lectin domain family 1, member B isoform 113 C-type lectin.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane protein binding|sugar binding|transmembrane receptor activity 0 AACCCATAGCAGCTATCTCCA 0.433 39 76 --- --- --- --- PASS CAPZA3 93661 broad.mit.edu 37 12 18891505 18891505 + Silent SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:18891505G>A uc001rdy.2 + 1 461 c.303G>A c.(301-303)CTG>CTA p.L101L PLCZ1_uc001rdv.3_5'Flank|PLCZ1_uc001rdw.3_5'Flank|PLCZ1_uc010sid.1_5'Flank NM_033328 NP_201585 Q96KX2 CAZA3_HUMAN capping protein alpha 3 101 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) AAAATCAGCTGAAAGACATCC 0.398 8 62 --- --- --- --- PASS ST8SIA1 6489 broad.mit.edu 37 12 22354742 22354742 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:22354742C>A uc001rfo.3 - 5 1297 c.815G>T c.(814-816)CGC>CTC p.R272L ST8SIA1_uc009zix.2_Missense_Mutation_p.R129L NM_003034 NP_003025 Q92185 SIA8A_HUMAN alpha-2,8-sialyltransferase 1 272 Lumenal (Potential). glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(3) 3 TGTGGACAGGCGCTTGGCATG 0.507 30 60 --- --- --- --- PASS SOX5 6660 broad.mit.edu 37 12 23728734 23728734 + Silent SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:23728734G>A uc001rfw.2 - 10 1305 c.1203C>T c.(1201-1203)CCC>CCT p.P401P SOX5_uc001rfx.2_Silent_p.P388P|SOX5_uc001rfy.2_Intron|SOX5_uc001rfv.2_Silent_p.P15P|SOX5_uc010siv.1_Silent_p.P388P|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Silent_p.P353P NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 401 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 CAGAGGTCTTGGGTTTAGCTG 0.488 34 85 --- --- --- --- PASS KLHDC5 57542 broad.mit.edu 37 12 27950784 27950784 + Silent SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:27950784C>T uc001rij.2 + 3 1280 c.1203C>T c.(1201-1203)CAC>CAT p.H401H KLHDC5_uc009zjj.2_RNA NM_020782 NP_065833 Q9P2K6 KLDC5_HUMAN kelch domain containing 5 401 Kelch 5. ovary(1)|central_nervous_system(1) 2 Lung SC(9;0.0873) GGTGTCTCCACGAGCTGGGGC 0.587 48 87 --- --- --- --- PASS IPO8 10526 broad.mit.edu 37 12 30826935 30826935 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:30826935C>A uc001rjd.2 - 8 1068 c.898G>T c.(898-900)GGC>TGC p.G300C IPO8_uc010sjt.1_Missense_Mutation_p.G95C NM_006390 NP_006381 O15397 IPO8_HUMAN importin 8 300 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding skin(2)|central_nervous_system(1) 3 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TGCTGAATGCCCACTGCATAG 0.313 16 59 --- --- --- --- PASS C12orf40 283461 broad.mit.edu 37 12 40020150 40020150 + Silent SNP C G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:40020150C>G uc001rmc.2 + 1 179 c.12C>G c.(10-12)GTC>GTG p.V4V C12orf40_uc009zjv.1_RNA NM_001031748 NP_001026918 Q86WS4 CL040_HUMAN hypothetical protein LOC283461 4 ovary(6) 6 TGAATTGGGTCGGGGGGTCCC 0.542 14 44 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49420645 49420645 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:49420645C>A uc001rta.3 - 48 15104 c.15104G>T c.(15103-15105)TGT>TTT p.C5035F NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5035 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CTCCTCATGACAGAAACAGCA 0.617 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 8 101 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49435057 49435057 + Nonsense_Mutation SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:49435057G>A uc001rta.3 - 31 6496 c.6496C>T c.(6496-6498)CAG>TAG p.Q2166* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2166 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GCGGGCACCTGGGGTGGGAGC 0.701 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 10 17 --- --- --- --- PASS CELA1 1990 broad.mit.edu 37 12 51733741 51733741 + Missense_Mutation SNP A G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:51733741A>G uc001ryi.1 - 6 553 c.512T>C c.(511-513)GTG>GCG p.V171A NM_001971 NP_001962 Q9UNI1 CELA1_HUMAN chymotrypsin-like elastase family, member 1 171 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity breast(1) 1 GGCGTAGTCCACAGAGGGCAG 0.597 15 23 --- --- --- --- PASS KRT86 3892 broad.mit.edu 37 12 52699180 52699180 + Missense_Mutation SNP C G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:52699180C>G uc010snq.1 + 6 1025 c.892C>G c.(892-894)CGC>GGC p.R298G KRT86_uc009zmg.2_Missense_Mutation_p.R298G|KRT81_uc001sac.2_Intron|KRT86_uc001sad.2_Missense_Mutation_p.R298G NM_002284 NP_002275 O43790 KRT86_HUMAN keratin 86 298 Rod.|Coil 2. cytoskeleton organization keratin filament structural molecule activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(357;0.189) GTCCTGGTACCGCAGCAAGGT 0.542 28 48 --- --- --- --- PASS KRT73 319101 broad.mit.edu 37 12 53008428 53008428 + Nonsense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:53008428C>A uc001sas.2 - 4 789 c.754G>T c.(754-756)GAG>TAG p.E252* NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 252 Coil 1B.|Rod. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) GCCTGCAGCTCCACTTTGCTC 0.567 22 42 --- --- --- --- PASS KIF5A 3798 broad.mit.edu 37 12 57969442 57969442 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:57969442C>T uc001sor.1 + 17 2133 c.1925C>T c.(1924-1926)TCG>TTG p.S642L KIF5A_uc010srr.1_Missense_Mutation_p.S553L NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 642 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 AAGATCCGCTCGCTTACGGAA 0.557 71 139 --- --- --- --- PASS GEFT 115557 broad.mit.edu 37 12 58007895 58007895 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:58007895C>T uc001spb.2 + 6 1109 c.649C>T c.(649-651)CAC>TAC p.H217Y GEFT_uc009zpy.2_Missense_Mutation_p.H256Y|GEFT_uc001soz.1_Missense_Mutation_p.H91Y|GEFT_uc001spa.2_Missense_Mutation_p.H111Y|uc001spc.2_Intron|GEFT_uc001spd.2_5'UTR NM_182947 NP_891992 Q86VW2 ARHGP_HUMAN RhoA/RAC/CDC42 exchange factor isoform 1 217 DH. regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity 0 Melanoma(17;0.122) CTATGAGTGGCACCGAGAGTG 0.537 26 70 --- --- --- --- PASS PTPRB 5787 broad.mit.edu 37 12 71029668 71029668 + Silent SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:71029668G>T uc001swc.3 - 2 278 c.234C>A c.(232-234)CCC>CCA p.P78P PTPRB_uc001swa.3_Silent_p.P78P|PTPRB_uc001swd.3_Silent_p.P77P|PTPRB_uc009zrr.1_Intron|PTPRB_uc001swe.2_Silent_p.P78P NM_001109754 NP_001103224 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B Error:Variant_position_missing_in_P23467_after_alignment angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CTGAGCGGGAGGGGCCGCGGG 0.557 9 17 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78542700 78542700 + Splice_Site SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:78542700G>T uc001syp.2 + 22 4958 c.4785_splice c.e22+1 p.N1595_splice NAV3_uc001syo.2_Splice_Site_p.N1595_splice|NAV3_uc010sub.1_Splice_Site_p.N1081_splice|NAV3_uc009zsf.2_Splice_Site_p.N426_splice NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TTCAGCAAATGTAAGTCACTT 0.313 HNSCC(70;0.22) 5 20 --- --- --- --- PASS PPFIA2 8499 broad.mit.edu 37 12 81839366 81839366 + Nonsense_Mutation SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:81839366A>T uc001szo.1 - 6 700 c.539T>A c.(538-540)TTG>TAG p.L180* PPFIA2_uc010sue.1_Nonsense_Mutation_p.L80*|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 106 ovary(3)|lung(2)|pancreas(1) 6 GTGCTCAAACAAAGATTTCAG 0.428 42 59 --- --- --- --- PASS TMPO 7112 broad.mit.edu 37 12 98921700 98921700 + Missense_Mutation SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:98921700G>A uc001tfj.2 + 2 553 c.316G>A c.(316-318)GAT>AAT p.D106N TMPO_uc001tfi.1_Missense_Mutation_p.D106N|TMPO_uc001tfk.2_Missense_Mutation_p.D106N|TMPO_uc001tfl.2_RNA|TMPO_uc001tfh.1_Missense_Mutation_p.D106N NM_001032283 NP_001027454 P42167 LAP2B_HUMAN thymopoietin isoform beta 106 Linker.|Nucleoplasmic (Potential). integral to membrane|nuclear inner membrane DNA binding|lamin binding ovary(2) 2 CAGACAAGAAGATAAAGATGA 0.348 41 88 --- --- --- --- PASS NR1H4 9971 broad.mit.edu 37 12 100928738 100928738 + Silent SNP C G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:100928738C>G uc001tht.1 + 4 727 c.699C>G c.(697-699)ACC>ACG p.T233T NR1H4_uc001thp.1_Silent_p.T219T|NR1H4_uc001thq.1_Silent_p.T223T|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Silent_p.T223T|NR1H4_uc010svk.1_Silent_p.T172T|NR1H4_uc001ths.1_Silent_p.T229T NM_005123 NP_005114 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 233 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 CAGATCAGACCGTGAATGAAG 0.428 20 37 --- --- --- --- PASS SLC5A8 160728 broad.mit.edu 37 12 101551154 101551154 + Missense_Mutation SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:101551154G>A uc001thz.3 - 15 2126 c.1736C>T c.(1735-1737)TCA>TTA p.S579L NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), 579 Cytoplasmic (Potential). apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 CACTGGATGTGATTTATAGCT 0.373 5 16 --- --- --- --- PASS SLC5A8 160728 broad.mit.edu 37 12 101603342 101603342 + Silent SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:101603342C>T uc001thz.3 - 1 675 c.285G>A c.(283-285)GTG>GTA p.V95V NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), 95 Helical; (Potential). apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 TGATGACCACCACAAAGAAGT 0.577 9 26 --- --- --- --- PASS UTP20 27340 broad.mit.edu 37 12 101731884 101731884 + Missense_Mutation SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:101731884A>T uc001tia.1 + 30 3853 c.3697A>T c.(3697-3699)ACC>TCC p.T1233S NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 1233 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 TGATATCCTGACCAATGTTTT 0.388 30 74 --- --- --- --- PASS TDG 6996 broad.mit.edu 37 12 104379432 104379432 + Missense_Mutation SNP A G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:104379432A>G uc001tkg.2 + 9 1239 c.1016A>G c.(1015-1017)GAG>GGG p.E339G TDG_uc009zuk.2_Missense_Mutation_p.E335G|TDG_uc010swi.1_Missense_Mutation_p.E196G|TDG_uc010swj.1_Missense_Mutation_p.E127G NM_003211 NP_003202 Q13569 TDG_HUMAN thymine-DNA glycosylase 339 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) CCAGGTTATGAGGCAGCATAT 0.403 BER_DNA_glycosylases 17 115 --- --- --- --- PASS CORO1C 23603 broad.mit.edu 37 12 109051103 109051103 + Missense_Mutation SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:109051103G>A uc001tnj.2 - 6 823 c.727C>T c.(727-729)CGG>TGG p.R243W CORO1C_uc009zva.2_Missense_Mutation_p.R296W|CORO1C_uc010sxf.1_Missense_Mutation_p.R206W NM_014325 NP_055140 Q9ULV4 COR1C_HUMAN coronin, actin binding protein, 1C isoform 1 243 actin cytoskeleton organization|phagocytosis|signal transduction actin cytoskeleton actin filament binding skin(3) 3 GCCAGCTGCCGCTCGCTCATG 0.557 41 81 --- --- --- --- PASS FOXN4 121643 broad.mit.edu 37 12 109719363 109719363 + Silent SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:109719363G>T uc001toe.3 - 9 1248 c.1143C>A c.(1141-1143)ACC>ACA p.T381T FOXN4_uc009zvg.2_Silent_p.T178T|FOXN4_uc001tof.3_Silent_p.T201T NM_213596 NP_998761 Q96NZ1 FOXN4_HUMAN forkhead box N4 381 axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue 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 ovary(1)|lung(1) 2 GCAGTGGCGGGGTCTGGGCTG 0.662 6 8 --- --- --- --- PASS COQ5 84274 broad.mit.edu 37 12 120966933 120966933 + Silent SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:120966933G>A uc001tyn.2 - 1 32 c.12C>T c.(10-12)CCC>CCT p.P4P COQ5_uc001tyo.2_5'UTR|COQ5_uc010szj.1_Silent_p.P4P NM_032314 NP_115690 Q5HYK3 COQ5_HUMAN coenzyme Q5 homolog, methyltransferase 4 ubiquinone biosynthetic process mitochondrion methyltransferase activity ovary(1) 1 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CACAGCTCCCGGGGGCCGCCA 0.652 12 19 --- --- --- --- PASS ACADS 35 broad.mit.edu 37 12 121174802 121174802 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr12:121174802G>T uc001tza.3 + 3 342 c.224G>T c.(223-225)GGC>GTC p.G75V ACADS_uc010szl.1_Missense_Mutation_p.G75V|ACADS_uc001tzb.3_Missense_Mutation_p.G2V NM_000017 NP_000008 P16219 ACADS_HUMAN short-chain acyl-CoA dehydrogenase precursor 75 mitochondrial matrix butyryl-CoA dehydrogenase activity central_nervous_system(2) 2 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) Lung NSC(355;0.163) NADH(DB00157) AAGAAGATGGGCGGGCTTGGG 0.692 7 14 --- --- --- --- PASS TPTE2 93492 broad.mit.edu 37 13 20048124 20048124 + Missense_Mutation SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr13:20048124A>T uc001umd.2 - 7 533 c.322T>A c.(322-324)TAT>AAT p.Y108N TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Intron|TPTE2_uc001ume.2_Missense_Mutation_p.Y71N|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN TPTE and PTEN homologous inositol lipid 108 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ATAGAACGATACTCCAAAGGA 0.333 34 94 --- --- --- --- PASS SGCG 6445 broad.mit.edu 37 13 23777964 23777964 + Missense_Mutation SNP T A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr13:23777964T>A uc001uom.2 + 2 286 c.131T>A c.(130-132)CTC>CAC p.L44H SGCG_uc009zzv.2_Missense_Mutation_p.L44H|SGCG_uc009zzw.2_Missense_Mutation_p.L44H NM_000231 NP_000222 Q13326 SGCG_HUMAN gamma sarcoglycan 44 Helical; Signal-anchor for type II membrane protein; (Potential). cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma 0 all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188) all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205) CTTCTTTTACTCATCATCCTC 0.378 32 52 --- --- --- --- PASS USPL1 10208 broad.mit.edu 37 13 31227421 31227421 + Missense_Mutation SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr13:31227421A>T uc001utc.2 + 8 1807 c.1375A>T c.(1375-1377)ACA>TCA p.T459S USPL1_uc001utd.2_Missense_Mutation_p.T130S|USPL1_uc001ute.1_Missense_Mutation_p.T130S NM_005800 NP_005791 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 459 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity pancreas(2)|skin(1) 3 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) TCATTTTATAACATGGATTTT 0.328 31 71 --- --- --- --- PASS FREM2 341640 broad.mit.edu 37 13 39452269 39452269 + Splice_Site SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr13:39452269A>T uc001uwv.2 + 22 8981 c.8672_splice c.e22-2 p.G2891_splice NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TCTCTATTTCAGGTGATATAA 0.393 48 85 --- --- --- --- PASS EPSTI1 94240 broad.mit.edu 37 13 43500491 43500491 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr13:43500491C>T uc001uyw.1 - 7 714 c.638G>A c.(637-639)GGC>GAC p.G213D EPSTI1_uc001uyx.1_Missense_Mutation_p.G213D NM_001002264 NP_001002264 Q96J88 ESIP1_HUMAN epithelial stromal interaction 1 isoform 1 213 ovary(1) 1 Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858) GGATTGTGGGCCACAAACAGC 0.448 91 201 --- --- --- --- PASS SLC25A30 253512 broad.mit.edu 37 13 45980021 45980021 + Nonsense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr13:45980021C>A uc001vag.2 - 4 441 c.304G>T c.(304-306)GAA>TAA p.E102* SLC25A30_uc010tfs.1_Nonsense_Mutation_p.E27*|SLC25A30_uc001vah.2_Nonsense_Mutation_p.E27*|SLC25A30_uc010tft.1_Nonsense_Mutation_p.E51*|SLC25A30_uc001vaf.2_5'Flank NM_001010875 NP_001010875 Q5SVS4 KMCP1_HUMAN solute carrier family 25, member 30 102 mitochondrial transport integral to membrane|mitochondrial inner membrane binding breast(1) 1 Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.95e-05) CACTCACCTTCTGGGCGTTCA 0.473 24 61 --- --- --- --- PASS RNF219 79596 broad.mit.edu 37 13 79213075 79213075 + Silent SNP T A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr13:79213075T>A uc001vkw.1 - 4 491 c.432A>T c.(430-432)CTA>CTT p.L144L RNF219_uc010afb.1_5'UTR|RNF219_uc010afc.2_Silent_p.L144L NM_024546 NP_078822 Q5W0B1 RN219_HUMAN ring finger protein 219 144 zinc ion binding large_intestine(2) 2 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) TATCTGTGACTAGATGTTTGT 0.363 35 88 --- --- --- --- PASS RNF219 79596 broad.mit.edu 37 13 79213097 79213097 + Missense_Mutation SNP T A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr13:79213097T>A uc001vkw.1 - 4 469 c.410A>T c.(409-411)AAC>ATC p.N137I RNF219_uc010afb.1_5'UTR|RNF219_uc010afc.2_Missense_Mutation_p.N137I NM_024546 NP_078822 Q5W0B1 RN219_HUMAN ring finger protein 219 137 zinc ion binding large_intestine(2) 2 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) TTCATTTTGGTTGCCCTGCAC 0.368 34 89 --- --- --- --- PASS GPC6 10082 broad.mit.edu 37 13 95050862 95050862 + Missense_Mutation SNP T G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr13:95050862T>G uc001vlt.2 + 8 2064 c.1432T>G c.(1432-1434)TAC>GAC p.Y478D NM_005708 NP_005699 Q9Y625 GPC6_HUMAN glypican 6 precursor 478 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) AAAAAACGCCTACAATGGCAA 0.428 16 50 --- --- --- --- PASS UGGT2 55757 broad.mit.edu 37 13 96589190 96589190 + Missense_Mutation SNP T A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr13:96589190T>A uc001vmt.2 - 17 2135 c.1965A>T c.(1963-1965)AGA>AGT p.R655S NM_020121 NP_064506 Q9NYU1 UGGG2_HUMAN UDP-glucose ceramide glucosyltransferase-like 2 655 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity ovary(2)|central_nervous_system(1) 3 AAAAAACTTCTCTTTGTAAAT 0.244 26 40 --- --- --- --- PASS ZIC2 7546 broad.mit.edu 37 13 100637327 100637327 + Silent SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr13:100637327C>A uc001von.2 + 2 1203 c.1203C>A c.(1201-1203)TCC>TCA p.S401S NM_007129 NP_009060 O95409 ZIC2_HUMAN zinc finger protein of the cerebellum 2 401 C2H2-type 5. brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GCGACAAGTCCTACACGCACC 0.667 26 64 --- --- --- --- PASS ARGLU1 55082 broad.mit.edu 37 13 107196490 107196490 + Missense_Mutation SNP T C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr13:107196490T>C uc001vqk.3 - 4 923 c.676A>G c.(676-678)ATT>GTT p.I226V NM_018011 NP_060481 Q9NWB6 ARGL1_HUMAN arginine and glutamate rich 1 226 Glu-rich. 0 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) TCTTCAACAATTCTCAACTGT 0.174 22 32 --- --- --- --- PASS OR4M1 441670 broad.mit.edu 37 14 20249278 20249278 + Nonsense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr14:20249278C>A uc010tku.1 + 1 797 c.797C>A c.(796-798)TCA>TAA p.S266* NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 266 Extracellular (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) CCATTTGACTCATTTTCCCTA 0.413 39 192 --- --- --- --- PASS NIN 51199 broad.mit.edu 37 14 51192658 51192658 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr14:51192658C>A uc001wym.2 - 30 6396 c.6205G>T c.(6205-6207)GGT>TGT p.G2069C NIN_uc001wyi.2_Intron|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Missense_Mutation_p.G1356C|NIN_uc010tqp.1_Missense_Mutation_p.G2075C NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 2069 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) CAGAGATGACCGGGTAGGCTC 0.398 T PDGFRB MPD 40 86 --- --- --- --- PASS C14orf37 145407 broad.mit.edu 37 14 58605787 58605787 + Missense_Mutation SNP T A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr14:58605787T>A uc001xdc.2 - 2 401 c.290A>T c.(289-291)CAG>CTG p.Q97L C14orf37_uc010tro.1_Missense_Mutation_p.Q135L|C14orf37_uc001xdd.2_Missense_Mutation_p.Q97L|C14orf37_uc001xde.2_Missense_Mutation_p.Q97L NM_001001872 NP_001001872 Q86TY3 CN037_HUMAN hypothetical protein LOC145407 precursor 97 Extracellular (Potential). integral to membrane binding 0 TTGTCCAGGCTGGGTTTCTTT 0.488 38 64 --- --- --- --- PASS C14orf115 55237 broad.mit.edu 37 14 74825314 74825314 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr14:74825314C>A uc001xpw.3 + 2 2019 c.1828C>A c.(1828-1830)CAG>AAG p.Q610K NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN hypothetical protein LOC55237 610 transposition, DNA-mediated DNA binding|transposase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00147) GGGGGCCCTGCAGGAGGGGGC 0.667 7 54 --- --- --- --- PASS YLPM1 56252 broad.mit.edu 37 14 75265623 75265623 + Missense_Mutation SNP G C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr14:75265623G>C uc001xqj.3 + 5 3747 c.3623G>C c.(3622-3624)GGT>GCT p.G1208A YLPM1_uc001xql.3_RNA NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 1013 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck ovary(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CCATTAGATGGTAGAAATGCT 0.468 15 24 --- --- --- --- PASS NRXN3 9369 broad.mit.edu 37 14 79276669 79276669 + Missense_Mutation SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr14:79276669A>T uc001xun.2 + 7 1629 c.1138A>T c.(1138-1140)AGG>TGG p.R380W NRXN3_uc001xum.1_Intron|NRXN3_uc010asv.1_Intron NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 753 Laminin G-like 4.|Extracellular (Potential). axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) AGACTGTATCAGGATAAACTG 0.343 9 22 --- --- --- --- PASS TRIP11 9321 broad.mit.edu 37 14 92488131 92488131 + Silent SNP A G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr14:92488131A>G uc001xzy.2 - 4 1145 c.357T>C c.(355-357)GAT>GAC p.D119D NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 119 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) TCAGCAACTGATCCTGGAGTG 0.408 T PDGFRB AML 30 55 --- --- --- --- PASS KIAA1409 57578 broad.mit.edu 37 14 94088791 94088791 + Missense_Mutation SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr14:94088791G>A uc001ybv.1 + 28 4830 c.4747G>A c.(4747-4749)GGT>AGT p.G1583S KIAA1409_uc001ybs.1_Missense_Mutation_p.G1561S NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1738 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) GTTCTCCTGCGGTAGCCCACT 0.577 33 90 --- --- --- --- PASS MARK3 4140 broad.mit.edu 37 14 103932708 103932708 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr14:103932708C>A uc001ymz.3 + 10 1592 c.926C>A c.(925-927)GCA>GAA p.A309E MARK3_uc001ymx.3_Missense_Mutation_p.A309E|MARK3_uc001ymw.3_Missense_Mutation_p.A309E|MARK3_uc001yna.3_Missense_Mutation_p.A309E|MARK3_uc001ymy.3_Missense_Mutation_p.A230E|MARK3_uc010awp.2_Missense_Mutation_p.A332E|MARK3_uc010tyb.1_Missense_Mutation_p.A120E NM_001128918 NP_001122390 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 309 ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|stomach(1) 4 Melanoma(154;0.155) Epithelial(46;0.241) TGGATCAATGCAGGGCATGAA 0.353 16 22 --- --- --- --- PASS PPP1R13B 23368 broad.mit.edu 37 14 104206650 104206650 + Silent SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr14:104206650C>A uc001yof.1 - 12 2386 c.2103G>T c.(2101-2103)GCG>GCT p.A701A PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Silent_p.A568A NM_015316 NP_056131 Q96KQ4 ASPP1_HUMAN apoptosis-stimulating protein of p53, 1 701 Pro-rich. apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding ovary(1) 1 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) GGGGCCGGGGCGCGTTGGCCA 0.672 43 92 --- --- --- --- PASS ADSSL1 122622 broad.mit.edu 37 14 105204723 105204723 + Silent SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr14:105204723G>T uc001ypd.2 + 3 380 c.306G>T c.(304-306)GTG>GTT p.V102V INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Silent_p.V145V|ADSSL1_uc001ypf.2_RNA NM_152328 NP_689541 Q8N142 PURA1_HUMAN adenylosuccinate synthase like 1 isoform 2 102 AMP biosynthetic process|immune system process|purine base metabolic process cytosol adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding ovary(1)|central_nervous_system(1) 2 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) L-Aspartic Acid(DB00128) GCAACGGGGTGGTCATCCACT 0.493 27 52 --- --- --- --- PASS C15orf2 23742 broad.mit.edu 37 15 24922057 24922057 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr15:24922057G>T uc001ywo.2 + 1 1517 c.1043G>T c.(1042-1044)CGA>CTA p.R348L NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 348 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CTGTGGGATCGAGGTGAGCTT 0.567 14 42 --- --- --- --- PASS UBE3A 7337 broad.mit.edu 37 15 25616072 25616072 + Nonsense_Mutation SNP T A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr15:25616072T>A uc001zaq.2 - 4 1258 c.1258A>T c.(1258-1260)AAG>TAG p.K420* uc001zae.2_Intron|UBE3A_uc001zar.2_Nonsense_Mutation_p.K397*|UBE3A_uc001zas.2_Nonsense_Mutation_p.K417*|UBE3A_uc001zat.2_Nonsense_Mutation_p.K397* NM_000462 NP_000453 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A isoform 2 420 Interaction with HCV core protein. brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity upper_aerodigestive_tract(1)|ovary(1)|breast(1) 3 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) GGACCTTTCTTGTTTCTTCTT 0.443 13 28 --- --- --- --- PASS AQR 9716 broad.mit.edu 37 15 35210502 35210502 + Missense_Mutation SNP T C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr15:35210502T>C uc001ziv.2 - 15 1480 c.1299A>G c.(1297-1299)ATA>ATG p.I433M NM_014691 NP_055506 O60306 AQR_HUMAN aquarius 433 catalytic step 2 spliceosome RNA binding large_intestine(1) 1 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) TTTCATCCCATATAATTTTCT 0.348 28 56 --- --- --- --- PASS LTK 4058 broad.mit.edu 37 15 41804959 41804959 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr15:41804959G>T uc001zoa.3 - 3 483 c.305C>A c.(304-306)GCC>GAC p.A102D LTK_uc001zob.3_Missense_Mutation_p.A102D|LTK_uc010ucx.1_Missense_Mutation_p.A102D|LTK_uc010bcg.2_Intron NM_002344 NP_002335 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase isoform 1 102 Extracellular (Potential). apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|central_nervous_system(1) 7 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) CAGCTGCCCGGCGGCCCCCAC 0.682 TSP Lung(18;0.14) 11 12 --- --- --- --- PASS CASC4 113201 broad.mit.edu 37 15 44705541 44705541 + Missense_Mutation SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr15:44705541A>T uc001ztp.2 + 10 1547 c.1248A>T c.(1246-1248)GAA>GAT p.E416D CASC4_uc001ztq.2_Missense_Mutation_p.E360D NM_138423 NP_612432 Q6P4E1 CASC4_HUMAN cancer susceptibility candidate 4 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment integral to membrane ovary(1) 1 all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027) all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237) CAGATGATGAAGAACGAGAGC 0.328 20 42 --- --- --- --- PASS SLC28A2 9153 broad.mit.edu 37 15 45556903 45556903 + Silent SNP G C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr15:45556903G>C uc001zva.2 + 7 704 c.639G>C c.(637-639)GGG>GGC p.G213G NM_004212 NP_004203 O43868 S28A2_HUMAN solute carrier family 28 (sodium-coupled 213 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity ovary(4) 4 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) TTGTCTTTGGGATCTTGGTCA 0.418 6 137 --- --- --- --- PASS HDC 3067 broad.mit.edu 37 15 50534531 50534531 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr15:50534531C>A uc001zxz.2 - 12 2021 c.1915G>T c.(1915-1917)GTC>TTC p.V639F HDC_uc001zxy.2_Missense_Mutation_p.V382F|HDC_uc010uff.1_Missense_Mutation_p.V606F NM_002112 NP_002103 P19113 DCHS_HUMAN histidine decarboxylase 639 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) AAGCTGGGGACGCTGTAGAAT 0.438 31 77 --- --- --- --- PASS ALDH1A3 220 broad.mit.edu 37 15 101436239 101436239 + Silent SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr15:101436239C>T uc002bwn.3 + 7 872 c.768C>T c.(766-768)ACC>ACT p.T256T ALDH1A3_uc010bpb.2_Silent_p.T149T|uc002bwo.1_RNA NM_000693 NP_000684 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1A3 256 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity central_nervous_system(2)|lung(1)|pancreas(1) 4 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) TCGCCTTCACCGGCTCCACAG 0.537 4 18 --- --- --- --- PASS RGS11 8786 broad.mit.edu 37 16 321280 321280 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr16:321280C>A uc002cgj.1 - 12 787 c.784G>T c.(784-786)GAT>TAT p.D262Y RGS11_uc002cgi.1_Missense_Mutation_p.D241Y|RGS11_uc010bqs.1_Missense_Mutation_p.D251Y|RGS11_uc002cgk.1_Missense_Mutation_p.D78Y NM_183337 NP_899180 O94810 RGS11_HUMAN regulator of G-protein signalling 11 isoform 1 262 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity lung(1)|pancreas(1) 2 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) ACGAGGGGATCGTGGGGTCCA 0.662 9 30 --- --- --- --- PASS WDR90 197335 broad.mit.edu 37 16 716485 716485 + Missense_Mutation SNP C G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr16:716485C>G uc002cii.1 + 38 4825 c.4771C>G c.(4771-4773)CTA>GTA p.L1591V WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Missense_Mutation_p.L206V|WDR90_uc010uul.1_Intron|WDR90_uc002cio.1_Missense_Mutation_p.L190V|WDR90_uc010bqx.1_Intron|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 1591 WD 20. ovary(1) 1 Hepatocellular(780;0.0218) GGGCACAGACCTATGGCTGGC 0.632 8 56 --- --- --- --- PASS PKD1 5310 broad.mit.edu 37 16 2159681 2159681 + Silent SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr16:2159681C>T uc002cos.1 - 15 5696 c.5487G>A c.(5485-5487)CTG>CTA p.L1829L PKD1_uc002cot.1_Silent_p.L1829L NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 1829 PKD 14.|Extracellular (Potential). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 TGCCCGTGGCCAGCTGCCCCC 0.672 3 9 --- --- --- --- PASS PDILT 204474 broad.mit.edu 37 16 20370813 20370813 + Missense_Mutation SNP T A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr16:20370813T>A uc002dhc.1 - 12 1806 c.1583A>T c.(1582-1584)AAA>ATA p.K528I NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 528 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 AGGTAACCCTTTCCTCATCAT 0.463 39 144 --- --- --- --- PASS PRRT2 112476 broad.mit.edu 37 16 29824976 29824976 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr16:29824976C>A uc002due.3 + 2 902 c.601C>A c.(601-603)CAC>AAC p.H201N uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Missense_Mutation_p.H201N|PRRT2_uc002duf.1_Missense_Mutation_p.H201N|C16orf53_uc002dug.3_5'Flank NM_145239 NP_660282 Q7Z6L0 PRRT2_HUMAN proline-rich transmembrane protein 2 201 Extracellular (Potential).|Pro-rich. response to biotic stimulus integral to membrane 0 CCCTGAGCCTCACTCACCACC 0.612 3 27 --- --- --- --- PASS INO80E 283899 broad.mit.edu 37 16 30007643 30007643 + Silent SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr16:30007643G>T uc002dvg.1 + 1 113 c.12G>T c.(10-12)CCG>CCT p.P4P uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_RNA|INO80E_uc002dvi.1_Silent_p.P4P|INO80E_uc002dvj.1_RNA|INO80E_uc002dvk.1_Silent_p.P4P|HIRIP3_uc002dve.2_5'Flank|HIRIP3_uc002dvf.2_5'Flank NM_173618 NP_775889 Q8NBZ0 IN80E_HUMAN INO80 complex subunit E 4 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex skin(1) 1 TGAACGGGCCGGCGGACGGCG 0.642 6 7 --- --- --- --- PASS ZNF768 79724 broad.mit.edu 37 16 30536224 30536224 + Missense_Mutation SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr16:30536224G>A uc002dyk.3 - 2 1413 c.1237C>T c.(1237-1239)CGG>TGG p.R413W ZNF768_uc010vex.1_Missense_Mutation_p.R382W|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.R382W NM_024671 NP_078947 Q9H5H4 ZN768_HUMAN zinc finger protein 768 413 C2H2-type 6. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding 0 AGGGCCGACCGCTGGGAGAAG 0.647 15 36 --- --- --- --- PASS ITGAM 3684 broad.mit.edu 37 16 31287020 31287020 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr16:31287020G>T uc002ebq.2 + 9 1107 c.1009G>T c.(1009-1011)GGT>TGT p.G337C ITGAM_uc002ebr.2_Missense_Mutation_p.G337C|ITGAM_uc010cam.1_5'UTR NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 337 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 TGCGATCGAGGGTGAGTCAGG 0.547 16 28 --- --- --- --- PASS PHKB 5257 broad.mit.edu 37 16 47695708 47695708 + Nonsense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr16:47695708G>T uc002eev.3 + 23 2327 c.2275G>T c.(2275-2277)GAA>TAA p.E759* PHKB_uc002eeu.3_Nonsense_Mutation_p.E752* NM_000293 NP_000284 Q93100 KPBB_HUMAN phosphorylase kinase, beta isoform a 759 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity ovary(1)|large_intestine(1)|breast(1) 3 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) CATCACAAAGGAAGGTAAGCA 0.408 30 46 --- --- --- --- PASS CYLD 1540 broad.mit.edu 37 16 50816277 50816277 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr16:50816277C>T uc002egp.1 + 11 2141 c.1726C>T c.(1726-1728)CCA>TCA p.P576S CYLD_uc002ego.2_Missense_Mutation_p.P573S|CYLD_uc010cbs.1_Missense_Mutation_p.P573S|CYLD_uc002egq.1_Missense_Mutation_p.P573S|CYLD_uc002egr.1_Missense_Mutation_p.P573S|CYLD_uc002egs.1_Missense_Mutation_p.P573S NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD 576 Interaction with TRIP. cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3) 28 all_cancers(37;0.0156) AGAAAATACTCCACCAAAAAT 0.308 Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial 8 31 --- --- --- --- PASS CDH5 1003 broad.mit.edu 37 16 66434918 66434918 + Silent SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr16:66434918A>T uc002eom.3 + 11 1992 c.1836A>T c.(1834-1836)ACA>ACT p.T612T NM_001795 NP_001786 P33151 CADH5_HUMAN cadherin 5, type 2 preproprotein 612 Helical; (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) TCACCATCACAGGTCAGTGCT 0.607 18 29 --- --- --- --- PASS HYDIN 54768 broad.mit.edu 37 16 70935069 70935069 + Silent SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr16:70935069C>A uc002ezr.2 - 53 9011 c.8883G>T c.(8881-8883)ACG>ACT p.T2961T NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 2962 ovary(1)|skin(1) 2 Ovarian(137;0.0654) CAGGCAGGAGCGTGACATTGC 0.488 7 46 --- --- --- --- PASS CNTNAP4 85445 broad.mit.edu 37 16 76501305 76501305 + Nonsense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr16:76501305G>T uc002feu.1 + 12 1925 c.1540G>T c.(1540-1542)GGA>TGA p.G514* CNTNAP4_uc002fev.1_Nonsense_Mutation_p.G378*|CNTNAP4_uc010chb.1_Nonsense_Mutation_p.G441*|CNTNAP4_uc002fex.1_Nonsense_Mutation_p.G517*|CNTNAP4_uc002few.2_Nonsense_Mutation_p.G489* NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 514 Extracellular (Potential).|Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 TGGATTTCAGGGATGTATGAG 0.428 30 40 --- --- --- --- PASS ACSF3 197322 broad.mit.edu 37 16 89169054 89169054 + Missense_Mutation SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr16:89169054G>A uc002fmp.2 + 4 1049 c.709G>A c.(709-711)GTG>ATG p.V237M ACSF3_uc010cig.1_Missense_Mutation_p.V237M|ACSF3_uc010cih.1_Translation_Start_Site|ACSF3_uc002fmq.1_RNA|ACSF3_uc010cii.1_RNA|ACSF3_uc002fmr.1_Translation_Start_Site NM_174917 NP_777577 Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 precursor 237 fatty acid metabolic process mitochondrion acid-thiol ligase activity|ATP binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0281) CAAAGACGACGTGATCCTCCA 0.617 4 55 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577130 7577130 + Missense_Mutation SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr17:7577130A>T uc002gim.2 - 8 1002 c.808T>A c.(808-810)TTT>ATT p.F270I TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.F270I|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.F138I|TP53_uc010cng.1_Missense_Mutation_p.F138I|TP53_uc002gii.1_Missense_Mutation_p.F138I|TP53_uc010cnh.1_Missense_Mutation_p.F270I|TP53_uc010cni.1_Missense_Mutation_p.F270I|TP53_uc002gij.2_Missense_Mutation_p.F270I NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 270 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). F -> L (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).|F -> C (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> I (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.F270L(22)|p.F270C(15)|p.F270V(8)|p.0?(7)|p.F270S(7)|p.F270Y(5)|p.F270I(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.S269fs*75(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.S269_F270insX(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) CGCACCTCAAAGCTGTTCCGT 0.537 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 15 13 --- --- --- --- PASS PIK3R5 23533 broad.mit.edu 37 17 8784089 8784089 + Missense_Mutation SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr17:8784089G>A uc002glt.2 - 19 2577 c.2510C>T c.(2509-2511)CCG>CTG p.P837L PIK3R5_uc010vuz.1_Missense_Mutation_p.P837L|PIK3R5_uc002glu.3_Missense_Mutation_p.P451L NM_014308 NP_055123 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 837 platelet activation cytosol|membrane|nucleus breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 CTTGTAGCACGGTGAGACCTC 0.642 5 28 --- --- --- --- PASS KIAA0100 9703 broad.mit.edu 37 17 26966931 26966931 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr17:26966931G>T uc002hbu.2 - 9 1102 c.1003C>A c.(1003-1005)CTG>ATG p.L335M KIAA0100_uc002hbv.2_Missense_Mutation_p.L335M|KIAA0100_uc010crr.1_Missense_Mutation_p.L192M NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 335 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) TCCAGCAGCAGTTCAGTGCTC 0.512 83 174 --- --- --- --- PASS RHOT1 55288 broad.mit.edu 37 17 30521103 30521103 + Silent SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr17:30521103G>A uc002hgz.2 + 11 1085 c.846G>A c.(844-846)TTG>TTA p.L282L RHOT1_uc002hgw.2_Silent_p.L282L|RHOT1_uc002hgy.2_Silent_p.L282L|RHOT1_uc002hha.2_Silent_p.L155L|RHOT1_uc010csv.2_RNA|RHOT1_uc002hgx.2_Silent_p.L155L|RHOT1_uc010wby.1_Silent_p.L282L|RHOT1_uc002hhb.2_Silent_p.L261L|RHOT1_uc002hgv.2_Silent_p.L282L NM_018307 NP_060777 Q8IXI2 MIRO1_HUMAN ras homolog gene family, member T1 isoform 3 282 Mitochondrial intermembrane (Potential). apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding ovary(3)|central_nervous_system(1) 4 Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182) ACCTGGATTTGACACCTGAAT 0.308 174 427 --- --- --- --- PASS KRTAP1-1 81851 broad.mit.edu 37 17 39197393 39197393 + Missense_Mutation SNP T C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr17:39197393T>C uc002hvw.1 - 1 321 c.257A>G c.(256-258)TAC>TGC p.Y86C NM_030967 NP_112229 Q07627 KRA11_HUMAN keratin associated protein 1-1 86 Missing (in allele KAP1.7). extracellular region|keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCTGGTCTGGTAGCAGCTTGG 0.587 4 105 --- --- --- --- PASS WNT9B 7484 broad.mit.edu 37 17 44950021 44950021 + Silent SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr17:44950021C>T uc002ikw.1 + 2 253 c.216C>T c.(214-216)CCC>CCT p.P72P WNT9B_uc002ikx.1_Silent_p.P72P NM_003396 NP_003387 O14905 WNT9B_HUMAN wingless-type MMTV integration site family, 72 anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.0257) GGAGGGAGCCCGGCCTGGCTG 0.682 25 35 --- --- --- --- PASS CDK5RAP3 80279 broad.mit.edu 37 17 46058079 46058079 + Missense_Mutation SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr17:46058079A>T uc002imr.2 + 12 1282 c.1198A>T c.(1198-1200)ACC>TCC p.T400S CDK5RAP3_uc010wlc.1_Missense_Mutation_p.T420S|CDK5RAP3_uc002imq.1_Missense_Mutation_p.T175S|CDK5RAP3_uc002imu.2_Missense_Mutation_p.T244S|CDK5RAP3_uc002ims.2_Missense_Mutation_p.T313S|CDK5RAP3_uc002imv.2_Missense_Mutation_p.T244S|CDK5RAP3_uc002imw.2_Missense_Mutation_p.T242S|CDK5RAP3_uc002imx.2_Missense_Mutation_p.T175S NM_176096 NP_788276 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 400 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding 0 GAAGATGGTTACCATGGTGTC 0.547 57 101 --- --- --- --- PASS YPEL2 388403 broad.mit.edu 37 17 57474474 57474474 + Nonsense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr17:57474474G>T uc002ixm.1 + 5 611 c.283G>T c.(283-285)GAA>TAA p.E95* NM_001005404 NP_001005404 Q96QA6 YPEL2_HUMAN yippee-like 2 95 nucleolus 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) ACATGCTTTTGAAAGCAGCCA 0.343 16 38 --- --- --- --- PASS FAM38B 63895 broad.mit.edu 37 18 10675263 10675263 + Missense_Mutation SNP A C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr18:10675263A>C uc002kor.3 - 12 1776 c.1636T>G c.(1636-1638)TAT>GAT p.Y546D FAM38B_uc002koq.2_Missense_Mutation_p.Y381D NM_022068 NP_071351 Q9H5I5 PIEZ2_HUMAN family with sequence similarity 38, member B 2589 integral to membrane ion channel activity ovary(1) 1 TTCACATAATATGGATAAATC 0.274 57 67 --- --- --- --- PASS DSG3 1830 broad.mit.edu 37 18 29055928 29055928 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr18:29055928C>T uc002kws.2 + 16 2814 c.2705C>T c.(2704-2706)TCA>TTA p.S902L DSG3_uc002kwt.2_Missense_Mutation_p.S184L NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 902 Cytoplasmic (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CAGACTTTGTCAGGAAGTCAA 0.502 88 89 --- --- --- --- PASS TCEB3C 162699 broad.mit.edu 37 18 44555161 44555161 + Silent SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr18:44555161G>T uc010xdb.1 - 1 1289 c.1053C>A c.(1051-1053)GCC>GCA p.A351A KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 351 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding 0 CGTCGCCGAGGGCGTCCGGAT 0.647 33 384 --- --- --- --- PASS ST8SIA3 51046 broad.mit.edu 37 18 55027478 55027478 + Silent SNP C G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr18:55027478C>G uc002lgn.2 + 4 1470 c.1113C>G c.(1111-1113)CTC>CTG p.L371L NM_015879 NP_056963 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide 371 Lumenal (Potential). glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(1)|skin(1) 2 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) GGGAAGGGCTCACCAAGCTGA 0.478 20 11 --- --- --- --- PASS CDH7 1005 broad.mit.edu 37 18 63492067 63492067 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr18:63492067G>T uc002ljz.2 + 6 1306 c.981G>T c.(979-981)AAG>AAT p.K327N CDH7_uc002lka.2_Missense_Mutation_p.K327N|CDH7_uc002lkb.2_Missense_Mutation_p.K327N NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 327 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) CTATACAGAAGGTAATGTTTT 0.368 5 49 --- --- --- --- PASS ZNF236 7776 broad.mit.edu 37 18 74563747 74563747 + Missense_Mutation SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr18:74563747A>T uc002lmi.2 + 3 407 c.209A>T c.(208-210)CAG>CTG p.Q70L ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Missense_Mutation_p.Q70L NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 70 C2H2-type 2. cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CGATGTGACCAGTGCCCCCAA 0.398 29 13 --- --- --- --- PASS MAP2K2 5605 broad.mit.edu 37 19 4099222 4099222 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr19:4099222C>A uc002lzk.2 - 7 1150 c.896G>T c.(895-897)AGG>ATG p.R299M MAP2K2_uc002lzj.2_Missense_Mutation_p.R109M NM_030662 NP_109587 P36507 MP2K2_HUMAN mitogen-activated protein kinase kinase 2 299 Protein kinase.|Pro-rich. activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|extracellular region ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) CCCGGGGGGCCTCGGCCGAGG 0.711 Cardiofaciocutaneous_syndrome 4 14 --- --- --- --- PASS FUT5 2527 broad.mit.edu 37 19 5867384 5867384 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr19:5867384G>T uc002mdo.3 - 2 441 c.353C>A c.(352-354)GCG>GAG p.A118E FUT5_uc010duo.2_Missense_Mutation_p.A118E NM_002034 NP_002025 Q11128 FUT5_HUMAN fucosyltransferase 5 118 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity 0 CACGATGACCGCGTCTGCCTG 0.642 21 49 --- --- --- --- PASS OR7G2 390882 broad.mit.edu 37 19 9213062 9213062 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr19:9213062G>T uc010xkk.1 - 1 921 c.921C>A c.(919-921)AAC>AAA p.N307K NM_001005193 NP_001005193 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, 286 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 AGATAAAGGGGTTCACCATTT 0.458 35 63 --- --- --- --- PASS ZNF440 126070 broad.mit.edu 37 19 11943166 11943166 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr19:11943166G>T uc002msp.1 + 4 1331 c.1175G>T c.(1174-1176)GGA>GTA p.G392V NM_152357 NP_689570 Q8IYI8 ZN440_HUMAN zinc finger protein 440 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACTCACACTGGAGAGAAACCC 0.453 26 61 --- --- --- --- PASS JUNB 3726 broad.mit.edu 37 19 12903533 12903533 + Silent SNP C G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr19:12903533C>G uc002mvc.2 + 1 1224 c.948C>G c.(946-948)CTC>CTG p.L316L JUNB_uc002mvb.2_RNA NM_002229 NP_002220 P17275 JUNB_HUMAN jun B proto-oncogene 316 Leucine-zipper. chromatin|nucleus protein dimerization activity|transcription coactivator activity|transcription corepressor activity lung(2)|central_nervous_system(1) 3 CCGCCGGCCTCCTCCGGGAGC 0.647 6 8 --- --- --- --- PASS FAM129C 199786 broad.mit.edu 37 19 17651385 17651385 + Silent SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr19:17651385C>A uc010xpr.1 + 10 1395 c.1257C>A c.(1255-1257)CGC>CGA p.R419R FAM129C_uc010xpq.1_Silent_p.R419R|FAM129C_uc002ngy.3_Silent_p.R145R|FAM129C_uc010xpu.1_Silent_p.R145R|FAM129C_uc002ngz.3_RNA|FAM129C_uc010eaw.2_Silent_p.R145R|FAM129C_uc002nhb.2_Silent_p.R18R NM_173544 NP_775815 Q86XR2 NIBL2_HUMAN B-cell novel protein 1 isoform a 419 0 CGCGGCTGCGCAGGGAGGTGA 0.622 3 10 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22155386 22155386 + Missense_Mutation SNP A G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr19:22155386A>G uc002nqp.2 - 5 2299 c.2150T>C c.(2149-2151)GTC>GCC p.V717A ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) AAGGGTTGAGACCTTACTAAA 0.358 25 41 --- --- --- --- PASS ZNF257 113835 broad.mit.edu 37 19 22256279 22256279 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr19:22256279G>T uc010ecx.2 + 3 308 c.139G>T c.(139-141)GTC>TTC p.V47F ZNF257_uc010ecy.2_Missense_Mutation_p.V15F NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 47 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) AGGTATTGCTGTCTCTAAGCC 0.393 45 112 --- --- --- --- PASS ZNF676 163223 broad.mit.edu 37 19 22363343 22363343 + Silent SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr19:22363343G>T uc002nqs.1 - 3 1494 c.1176C>A c.(1174-1176)CCC>CCA p.P392P NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CACATTTGTAGGGCTTCTCTT 0.408 28 59 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 31039660 31039660 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr19:31039660C>T uc002nsu.1 + 4 3272 c.3134C>T c.(3133-3135)GCC>GTC p.A1045V ZNF536_uc010edd.1_Missense_Mutation_p.A1045V NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1045 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) AAAGACCAAGCCCGGGAGGCG 0.537 17 62 --- --- --- --- PASS GAPDHS 26330 broad.mit.edu 37 19 36035845 36035845 + Nonsense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr19:36035845C>A uc002oaf.1 + 10 1207 c.1091C>A c.(1090-1092)TCG>TAG p.S364* uc010eec.1_RNA|uc002oag.2_Intron|TMEM147_uc002oai.1_5'Flank|TMEM147_uc002oaj.1_5'Flank|TMEM147_uc002oak.1_5'Flank NM_014364 NP_055179 O14556 G3PT_HUMAN glyceraldehyde-3-phosphate dehydrogenase, 364 gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility cytosol glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding 0 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) NADH(DB00157) GATACCCACTCGTCCATCTTC 0.537 60 95 --- --- --- --- PASS ZNF570 148268 broad.mit.edu 37 19 37975140 37975140 + Missense_Mutation SNP A T T rs139260465 by1000genomes TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr19:37975140A>T uc002ogk.1 + 5 1145 c.616A>T c.(616-618)ATT>TTT p.I206F ZNF570_uc010efl.1_Missense_Mutation_p.I262F|ZNF570_uc010xtr.1_Missense_Mutation_p.I3F NM_144694 NP_653295 Q96NI8 ZN570_HUMAN zinc finger protein 570 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTAATGGCTATTAAGCCCAA 0.358 76 174 --- --- --- --- PASS TGFB1 7040 broad.mit.edu 37 19 41858693 41858693 + Missense_Mutation SNP T C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr19:41858693T>C uc002oqh.1 - 1 1124 c.257A>G c.(256-258)GAC>GGC p.D86G CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_Intron NM_000660 NP_000651 P01137 TGFB1_HUMAN transforming growth factor, beta 1 precursor 86 active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix growth factor activity|type II transforming growth factor beta receptor binding 0 Hyaluronidase(DB00070) GGCCACCCGGTCGCGGGTGCT 0.706 9 16 --- --- --- --- PASS ZNF526 116115 broad.mit.edu 37 19 42729069 42729069 + Missense_Mutation SNP C T T rs143231579 TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr19:42729069C>T uc002osz.1 + 3 670 c.514C>T c.(514-516)CCA>TCA p.P172S NM_133444 NP_597701 Q8TF50 ZN526_HUMAN zinc finger protein 526 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0704) AGCTGAGCCACCAGTGCCACC 0.607 44 73 --- --- --- --- PASS C19orf61 56006 broad.mit.edu 37 19 44254859 44254859 + Missense_Mutation SNP T C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr19:44254859T>C uc002oxj.2 - 2 378 c.35A>G c.(34-36)TAT>TGT p.Y12C C19orf61_uc002oxk.2_Missense_Mutation_p.Y12C|C19orf61_uc010eiy.1_Missense_Mutation_p.Y12C NM_019108 NP_061981 Q9H0W8 SMG9_HUMAN SMG9 protein 12 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay intracellular protein binding 0 Prostate(69;0.0352) CTCTATCCCATAGAGTCCAGG 0.567 43 103 --- --- --- --- PASS PPP1R13L 10848 broad.mit.edu 37 19 45889145 45889145 + Missense_Mutation SNP T A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr19:45889145T>A uc002pbn.2 - 10 2095 c.2018A>T c.(2017-2019)TAC>TTC p.Y673F PPP1R13L_uc002pbm.2_Missense_Mutation_p.Y252F|PPP1R13L_uc002pbo.2_Missense_Mutation_p.Y673F NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 673 ANK 1. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding skin(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) CACGATAGAGTAGTTGGCGCC 0.657 8 17 --- --- --- --- PASS PRR12 57479 broad.mit.edu 37 19 50103085 50103085 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr19:50103085G>T uc002poo.3 + 5 4235 c.4235G>T c.(4234-4236)GGG>GTG p.G1412V NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 591 Pro-rich. DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CCCCTTGCTGGGCCAAAAGAC 0.642 44 89 --- --- --- --- PASS PPP2R1A 5518 broad.mit.edu 37 19 52723050 52723050 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr19:52723050C>A uc002pyp.2 + 10 1394 c.1235C>A c.(1234-1236)GCT>GAT p.A412D PPP2R1A_uc010ydk.1_Missense_Mutation_p.A357D|PPP2R1A_uc002pyq.2_Missense_Mutation_p.A233D NM_014225 NP_055040 P30153 2AAA_HUMAN alpha isoform of regulatory subunit A, protein 412 HEAT 11.|PP2A subunit C binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1) 66 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) GTGGAGCTGGCTGAGGACGCC 0.622 Mis clear cell ovarian carcinoma 7 71 --- --- --- --- PASS KIR3DL2 3812 broad.mit.edu 37 19 55363737 55363737 + Nonsense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr19:55363737G>T uc002qho.3 + 3 388 c.355G>T c.(355-357)GGA>TGA p.G119* KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc002qhn.1_Intron|KIR3DL2_uc010esh.2_Nonsense_Mutation_p.G119* NM_006737 NP_006728 P43630 KI3L2_HUMAN killer cell immunoglobulin-like receptor, three 119 Extracellular (Potential). cellular defense response|regulation of immune response integral to plasma membrane receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(193;0.0192) CATGGTCACAGGTCAGAGGCT 0.617 24 63 --- --- --- --- PASS NLRP13 126204 broad.mit.edu 37 19 56410158 56410158 + Missense_Mutation SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr19:56410158G>A uc010ygg.1 - 10 2960 c.2935C>T c.(2935-2937)CAT>TAT p.H979Y NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 979 ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) AATGCACGATGTGGTTTCAGA 0.468 14 106 --- --- --- --- PASS USP29 57663 broad.mit.edu 37 19 57640074 57640074 + Nonsense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr19:57640074C>T uc002qny.2 + 4 387 c.31C>T c.(31-33)CAA>TAA p.Q11* NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 11 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGGATTCATCCAAATTTGGAG 0.343 15 34 --- --- --- --- PASS USP29 57663 broad.mit.edu 37 19 57640084 57640084 + Missense_Mutation SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr19:57640084G>A uc002qny.2 + 4 397 c.41G>A c.(40-42)AGC>AAC p.S14N NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 14 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CAAATTTGGAGCCAGAAGACT 0.343 15 35 --- --- --- --- PASS ZNF324B 388569 broad.mit.edu 37 19 58965615 58965615 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr19:58965615C>T uc002qsv.1 + 3 249 c.142C>T c.(142-144)CGT>TGT p.R48C ZNF324B_uc002qsu.1_5'UTR|ZNF324B_uc010euq.1_Missense_Mutation_p.R48C NM_207395 NP_997278 Q6AW86 Z324B_HUMAN zinc finger protein 324B 48 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CTCCCGACCTCGTGTGGTCAT 0.602 4 57 --- --- --- --- PASS PLK1S1 55857 broad.mit.edu 37 20 21224905 21224905 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr20:21224905G>T uc002wsb.2 + 13 2036 c.1903G>T c.(1903-1905)GTG>TTG p.V635L PLK1S1_uc010zsh.1_Missense_Mutation_p.V532L|PLK1S1_uc010zsi.1_Missense_Mutation_p.V502L|PLK1S1_uc010zsj.1_RNA|PLK1S1_uc002wsd.2_RNA NM_018474 NP_060944 Q2M2Z5 KIZ_HUMAN polo-like kinase 1 substrate 1 isoform 1 635 spindle organization centrosome protein kinase binding 0 AAAGAAACCCGTGATCAATTT 0.308 20 61 --- --- --- --- PASS MIR1825 100302183 broad.mit.edu 37 20 30825602 30825602 + RNA SNP A C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr20:30825602A>C hsa-mir-1825|MI0008193 + c.5A>C POFUT1_uc002wxp.2_3'UTR|POFUT1_uc010ztt.1_3'UTR|POFUT1_uc010ztu.1_3'UTR 0 caggcgagagactggggtgct 0.000 12 36 --- --- --- --- PASS RBM12 10137 broad.mit.edu 37 20 34242587 34242587 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr20:34242587C>A uc002xdq.2 - 3 890 c.658G>T c.(658-660)GTG>TTG p.V220L CPNE1_uc010zvj.1_5'Flank|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.V220L|RBM12_uc002xds.2_Missense_Mutation_p.V220L NM_152838 NP_690051 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 220 Pro-rich. nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) ACAGGAGGCACAGGAGGCAAT 0.607 28 68 --- --- --- --- PASS C20orf152 140894 broad.mit.edu 37 20 34575396 34575396 + Missense_Mutation SNP T A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr20:34575396T>A uc002xes.1 + 7 952 c.796T>A c.(796-798)TAT>AAT p.Y266N C20orf152_uc002xer.1_Missense_Mutation_p.Y266N|C20orf152_uc010gfp.1_Intron Q96M20 CT152_HUMAN SubName: Full=C20orf152 protein; 266 0 Breast(12;0.00631) GAGGTTCTCGTATGGGCAGCT 0.498 26 44 --- --- --- --- PASS RALGAPB 57148 broad.mit.edu 37 20 37145013 37145013 + Missense_Mutation SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr20:37145013G>A uc002xiw.2 + 7 1308 c.1051G>A c.(1051-1053)GGT>AGT p.G351S RALGAPB_uc010zvz.1_Missense_Mutation_p.G351S|RALGAPB_uc002xix.2_Missense_Mutation_p.G351S|RALGAPB_uc002xiy.1_Missense_Mutation_p.G351S|RALGAPB_uc002xiz.2_Missense_Mutation_p.G129S|RALGAPB_uc002xja.1_Missense_Mutation_p.G78S NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 351 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 TGCATTCTTAGGTGAATTTTG 0.398 65 124 --- --- --- --- PASS PABPC1L 80336 broad.mit.edu 37 20 43547656 43547656 + Missense_Mutation SNP C G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr20:43547656C>G uc010ggv.1 + 4 695 c.613C>G c.(613-615)CAA>GAA p.Q205E PABPC1L_uc010zwq.1_RNA NM_001124756 NP_001118228 Q4VXU2 PAP1L_HUMAN poly(A)-binding protein, cytoplasmic 1-like 205 RRM 3. nucleotide binding|RNA binding ovary(1) 1 TGTGGACGAGCAAGGCCTGCA 0.612 51 120 --- --- --- --- PASS CBLN4 140689 broad.mit.edu 37 20 54573762 54573762 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr20:54573762C>T uc002xxa.2 - 3 1242 c.457G>A c.(457-459)GAC>AAC p.D153N NM_080617 NP_542184 Q9NTU7 CBLN4_HUMAN cerebellin 4 precursor 153 C1q. cell junction|extracellular region|synapse ovary(3)|pancreas(1) 4 Colorectal(105;0.202) ACATCTTTGTCCCCCGCAAAG 0.363 16 40 --- --- --- --- PASS CBLN4 140689 broad.mit.edu 37 20 54573764 54573764 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr20:54573764C>T uc002xxa.2 - 3 1240 c.455G>A c.(454-456)GGG>GAG p.G152E NM_080617 NP_542184 Q9NTU7 CBLN4_HUMAN cerebellin 4 precursor 152 C1q. cell junction|extracellular region|synapse ovary(3)|pancreas(1) 4 Colorectal(105;0.202) ATCTTTGTCCCCCGCAAAGGC 0.358 16 41 --- --- --- --- PASS C20orf85 128602 broad.mit.edu 37 20 56728607 56728607 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr20:56728607C>A uc002xyv.2 + 2 114 c.76C>A c.(76-78)CGT>AGT p.R26S NM_178456 NP_848551 Q9H1P6 CT085_HUMAN hypothetical protein LOC128602 26 ovary(1) 1 all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118) BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07) CAGGAAATACCGTCTGAAGGC 0.483 38 83 --- --- --- --- PASS COL20A1 57642 broad.mit.edu 37 20 61948004 61948004 + Missense_Mutation SNP T C C TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr20:61948004T>C uc011aau.1 + 21 2724 c.2624T>C c.(2623-2625)TTC>TCC p.F875S COL20A1_uc011aav.1_Missense_Mutation_p.F696S NM_020882 NP_065933 Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 875 TSP N-terminal. cell adhesion collagen|extracellular space structural molecule activity central_nervous_system(1) 1 all_cancers(38;1.39e-10) ACCCCGACCTTCACGCTCTTC 0.637 3 9 --- --- --- --- PASS PRIC285 85441 broad.mit.edu 37 20 62192206 62192206 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr20:62192206C>A uc002yfm.2 - 16 8115 c.7223G>T c.(7222-7224)CGG>CTG p.R2408L PRIC285_uc002yfl.1_Missense_Mutation_p.R1839L NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 2408 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) GAACAGAGACCGGTCCAGACC 0.632 38 67 --- --- --- --- PASS HUNK 30811 broad.mit.edu 37 21 33371496 33371496 + Silent SNP A G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr21:33371496A>G uc002yph.2 + 11 2504 c.2144A>G c.(2143-2145)TAA>TGA p.*715* NM_014586 NP_055401 P57058 HUNK_HUMAN hormonally upregulated Neu-associated kinase 715 multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity stomach(1)|skin(1) 2 ACCCAGTGCTAACTTGGGCCA 0.602 30 40 --- --- --- --- PASS GAB4 128954 broad.mit.edu 37 22 17472932 17472932 + Silent SNP A G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr22:17472932A>G uc002zlw.2 - 2 417 c.309T>C c.(307-309)GAT>GAC p.D103D GAB4_uc010gqs.1_Silent_p.D103D NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 103 PH. large_intestine(1)|ovary(1) 2 all_epithelial(15;0.112)|Lung NSC(13;0.248) TCACATCAACATCCAGCTGCT 0.488 21 338 --- --- --- --- PASS LIF 3976 broad.mit.edu 37 22 30640024 30640024 + Silent SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr22:30640024G>T uc003agz.2 - 3 337 c.225C>A c.(223-225)CCC>CCA p.P75P LIF_uc011aks.1_Missense_Mutation_p.Q16K|uc003aha.2_5'Flank NM_002309 NP_002300 P15018 LIF_HUMAN leukemia inhibitory factor (cholinergic 75 immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding 0 Epithelial(10;0.171) CCAGGTTGTTGGGGAACGGCT 0.373 35 51 --- --- --- --- PASS TCF20 6942 broad.mit.edu 37 22 42575682 42575682 + Silent SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr22:42575682G>A uc003bcj.1 - 2 5816 c.5682C>T c.(5680-5682)GGC>GGT p.G1894G TCF20_uc003bck.1_Silent_p.G1894G|TCF20_uc003bnt.2_Silent_p.G1894G NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 1894 PHD-type; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 CCAAGGTGGCGCCTGCCTCCT 0.562 17 158 --- --- --- --- PASS EFCAB6 64800 broad.mit.edu 37 22 44127589 44127589 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr22:44127589C>T uc003bdy.1 - 8 962 c.747G>A c.(745-747)ATG>ATA p.M249I EFCAB6_uc003bdz.1_Missense_Mutation_p.M97I|EFCAB6_uc010gzi.1_Missense_Mutation_p.M97I|EFCAB6_uc010gzk.1_RNA|EFCAB6_uc011aqa.1_Missense_Mutation_p.M143I|EFCAB6_uc003bea.1_Missense_Mutation_p.M246I|EFCAB6_uc003beb.3_Missense_Mutation_p.M143I NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 249 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) CTTGATTTCCCATACAATATC 0.219 14 32 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 32404524 32404524 + Missense_Mutation SNP C T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chrX:32404524C>T uc004dda.1 - 33 4821 c.4577G>A c.(4576-4578)GGA>GAA p.G1526E DMD_uc004dcw.2_Missense_Mutation_p.G182E|DMD_uc004dcx.2_Missense_Mutation_p.G185E|DMD_uc004dcz.2_Missense_Mutation_p.G1403E|DMD_uc004dcy.1_Missense_Mutation_p.G1522E|DMD_uc004ddb.1_Missense_Mutation_p.G1518E|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1526 Spectrin 10.|Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AATCTGACGTCCAGTCTTTAT 0.353 28 15 --- --- --- --- PASS AR 367 broad.mit.edu 37 X 66863174 66863174 + Missense_Mutation SNP G T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chrX:66863174G>T uc004dwu.1 + 2 2808 c.1693G>T c.(1693-1695)GAT>TAT p.D565Y AR_uc011mpd.1_Missense_Mutation_p.D565Y|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.D565Y|AR_uc004dwv.1_Missense_Mutation_p.D33Y NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 564 NR C4-type.|Nuclear receptor. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) GATCTGTGGAGATGAAGCTTC 0.483 Androgen_Insensitivity_Syndrome 47 21 --- --- --- --- PASS LPAR4 2846 broad.mit.edu 37 X 78010451 78010451 + Missense_Mutation SNP A T T TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chrX:78010451A>T uc010nme.2 + 2 490 c.85A>T c.(85-87)AAT>TAT p.N29Y NM_005296 NP_005287 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 29 Extracellular (Potential). integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled ovary(3) 3 TACTGCCAATAATACTTGCAT 0.403 63 36 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91133858 91133858 + Silent SNP G A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chrX:91133858G>A uc004efk.1 + 2 3464 c.2619G>A c.(2617-2619)AAG>AAA p.K873K PCDH11X_uc004efl.1_Silent_p.K873K|PCDH11X_uc004efo.1_Silent_p.K873K|PCDH11X_uc010nmv.1_Silent_p.K873K|PCDH11X_uc004efm.1_Silent_p.K873K|PCDH11X_uc004efn.1_Silent_p.K873K|PCDH11X_uc004efh.1_Silent_p.K873K|PCDH11X_uc004efj.1_Silent_p.K873K NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 873 Cytoplasmic (Potential).|Poly-Lys. homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 agaaaaagaagaagaagCATT 0.368 27 23 --- --- --- --- PASS ESX1 80712 broad.mit.edu 37 X 103495292 103495292 + Missense_Mutation SNP A T T rs144173947 byFrequency TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chrX:103495292A>T uc004ely.2 - 4 896 c.838T>A c.(838-840)TCA>ACA p.S280T NM_153448 NP_703149 Q8N693 ESX1_HUMAN extraembryonic, spermatogenesis, homeobox 280 5.|15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x. 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 GCCATGCGTGAGCCGGGTGGC 0.488 5 29 --- --- --- --- PASS COL4A6 1288 broad.mit.edu 37 X 107404948 107404948 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chrX:107404948C>A uc004enw.3 - 42 4340 c.4237G>T c.(4237-4239)GGC>TGC p.G1413C COL4A6_uc004env.3_Missense_Mutation_p.G1412C|COL4A6_uc011msn.1_Missense_Mutation_p.G1388C|COL4A6_uc010npk.2_Missense_Mutation_p.G1355C|COL4A6_uc011msm.1_5'Flank|COL4A6_uc010npj.2_Intron NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 1413 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 CCGGGGATGCCAGGTAAACCT 0.592 Alport_syndrome_with_Diffuse_Leiomyomatosis 13 7 --- --- --- --- PASS KIAA1210 57481 broad.mit.edu 37 X 118223293 118223293 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chrX:118223293C>A uc004era.3 - 11 1900 c.1900G>T c.(1900-1902)GCA>TCA p.A634S NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 634 ovary(4)|skin(1) 5 ATGGGCTGTGCTGCTGATGCT 0.473 26 11 --- --- --- --- PASS KIAA1210 57481 broad.mit.edu 37 X 118223294 118223294 + Silent SNP T G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chrX:118223294T>G uc004era.3 - 11 1899 c.1899A>C c.(1897-1899)GCA>GCC p.A633A NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 633 ovary(4)|skin(1) 5 TGGGCTGTGCTGCTGATGCTT 0.473 27 12 --- --- --- --- PASS GPC3 2719 broad.mit.edu 37 X 132887885 132887885 + Missense_Mutation SNP A G G TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chrX:132887885A>G uc004exe.1 - 3 846 c.656T>C c.(655-657)GTT>GCT p.V219A GPC3_uc004exd.1_Missense_Mutation_p.V91A|GPC3_uc010nrn.1_Missense_Mutation_p.V219A|GPC3_uc011mvh.1_Missense_Mutation_p.V203A|GPC3_uc010nro.1_Missense_Mutation_p.V165A|GPC3_uc010nrp.1_Missense_Mutation_p.V91A NM_004484 NP_004475 P51654 GPC3_HUMAN glypican 3 isoform 2 precursor 219 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity lung(2)|prostate(1)|breast(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) TGACTTGGAAACCTGGGTCAT 0.468 T|D|Mis|N|F|S Wilms tumour Simpson-Golabi-Behmel_syndrome 66 38 --- --- --- --- PASS PCDH11Y 83259 broad.mit.edu 37 Y 4967136 4967136 + Missense_Mutation SNP C A A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chrY:4967136C>A uc004fqo.2 + 2 2251 c.1517C>A c.(1516-1518)TCT>TAT p.S506Y PCDH11Y_uc010nwg.1_Missense_Mutation_p.S495Y|PCDH11Y_uc004fql.1_Missense_Mutation_p.S495Y|PCDH11Y_uc004fqm.1_Missense_Mutation_p.S495Y|PCDH11Y_uc004fqn.1_Missense_Mutation_p.S506Y|PCDH11Y_uc004fqp.1_Missense_Mutation_p.S277Y NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked isoform c 506 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 GTAACTGTTTCTATTCCTGAG 0.443 7 16 --- --- --- --- PASS PCDHB2 56133 broad.mit.edu 37 5 140475430 140475430 + Frame_Shift_Del DEL G - - TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr5:140475430delG uc003lil.2 + 1 1194 c.1056delG c.(1054-1056)TCGfs p.S352fs PCDHB2_uc003lim.1_Frame_Shift_Del_p.S13fs NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 352 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TAACTATGTCGACACTTATCA 0.463 20 16 --- --- --- --- SLC24A2 25769 broad.mit.edu 37 9 19516395 19516395 + Frame_Shift_Del DEL G - - TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr9:19516395delG uc003zoa.1 - 10 1804 c.1742delC c.(1741-1743)CCAfs p.P581fs SLC24A2_uc003zob.1_Frame_Shift_Del_p.P564fs NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN solute carrier family 24 581 Helical; (Potential). visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(3) 3 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) CCAGGGCAGTGGGAGCCTGTG 0.517 18 14 --- --- --- --- OIP5 11339 broad.mit.edu 37 15 41624158 41624158 + Frame_Shift_Del DEL A - - TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chr15:41624158delA uc001znp.2 - 2 404 c.344delT c.(343-345)TTGfs p.L115fs NUSAP1_uc001znq.3_5'Flank|NUSAP1_uc001znr.3_5'Flank|NUSAP1_uc001zns.3_5'Flank|NUSAP1_uc010bce.2_5'Flank|NUSAP1_uc001znt.3_5'Flank|NUSAP1_uc001znv.3_5'Flank|NUSAP1_uc001znu.3_5'Flank|NUSAP1_uc010ucw.1_5'Flank NM_007280 NP_009211 O43482 MS18B_HUMAN Opa interacting protein 5 115 cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis Cajal body|chromatin|chromosome, centromeric region protein binding 0 all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175) OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163) GGGCGCTTCCAAAACGACGTT 0.453 OREG0023073 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 102 47 --- --- --- --- NRK 203447 broad.mit.edu 37 X 105153518 105153518 + Frame_Shift_Del DEL C - - TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chrX:105153518delC uc004emd.2 + 13 2188 c.1885delC c.(1885-1887)CCCfs p.P629fs NRK_uc010npc.1_Frame_Shift_Del_p.P297fs NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 629 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 GACACTAGAACCCCCACAGGC 0.498 HNSCC(51;0.14) 10 8 --- --- --- --- SERPINA7 6906 broad.mit.edu 37 X 105280841 105280841 + Frame_Shift_Del DEL G - - TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 32c14926-b510-4714-90b2-b0bd68569cd4 7b1d8459-aedc-4a58-8d31-20718fb96087 g.chrX:105280841delG uc004eme.1 - 1 225 c.209delC c.(208-210)CCTfs p.P70fs SERPINA7_uc010npd.2_Frame_Shift_Del_p.P70fs|SERPINA7_uc010npe.1_Frame_Shift_Del_p.P70fs NM_000354 NP_000345 P05543 THBG_HUMAN serine (or cysteine) proteinase inhibitor, clade 70 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity 0 Levothyroxine(DB00451)|Liothyronine(DB00279) AATGCTCACAGGGGAAAAGAA 0.483 31 50 --- --- --- ---