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 SAMD11 148398 broad.mit.edu 37 1 879424 879424 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:879424C>T uc001abw.1 + 14 2017 c.1937C>T c.(1936-1938)TCC>TTC p.S646F SAMD11_uc001abx.1_Missense_Mutation_p.S509F NM_152486 NP_689699 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 646 nucleus 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) ACGGCCACGTCCCCCTATGGA 0.677 17 28 --- --- --- --- PASS SAMD11 148398 broad.mit.edu 37 1 879425 879425 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:879425C>T uc001abw.1 + 14 2018 c.1938C>T c.(1936-1938)TCC>TCT p.S646S SAMD11_uc001abx.1_Silent_p.S509S NM_152486 NP_689699 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 646 nucleus 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) CGGCCACGTCCCCCTATGGAG 0.682 17 28 --- --- --- --- PASS NOC2L 26155 broad.mit.edu 37 1 891504 891504 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:891504G>A uc001abz.3 - 5 637 c.578C>T c.(577-579)GCC>GTC p.A193V NOC2L_uc001aby.3_5'UTR|NOC2L_uc009vjq.2_Missense_Mutation_p.A193V NM_015658 NP_056473 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog 193 nucleolus protein binding ovary(1)|skin(1) 2 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) GAATTTGTTGGCCTCAGCACT 0.592 20 30 --- --- --- --- PASS PRKCZ 5590 broad.mit.edu 37 1 2105397 2105397 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:2105397C>T uc001aiq.2 + 14 1508 c.1347C>T c.(1345-1347)TCC>TCT p.S449S PRKCZ_uc001air.2_Silent_p.S266S|PRKCZ_uc010nyw.1_Silent_p.S345S|PRKCZ_uc001ais.2_Silent_p.S266S|PRKCZ_uc009vla.2_Silent_p.S273S|PRKCZ_uc010nyx.1_RNA|PRKCZ_uc001ait.2_Silent_p.S297S NM_002744 NP_002735 Q05513 KPCZ_HUMAN protein kinase C, zeta isoform 1 449 Protein kinase. anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding central_nervous_system(4)|large_intestine(2) 6 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) CCGGGCGCTCCCCGTTCGACA 0.622 OREG0013007 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 20 --- --- --- --- PASS MMEL1 79258 broad.mit.edu 37 1 2527475 2527475 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:2527475C>T uc001ajy.2 - 15 1687 c.1473G>A c.(1471-1473)GAG>GAA p.E491E MMEL1_uc009vlg.1_RNA NM_033467 NP_258428 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 491 Lumenal (Potential). proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity 0 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) TCTTGGACTCCTCGTCCATCC 0.627 37 53 --- --- --- --- PASS ACTRT2 140625 broad.mit.edu 37 1 2938400 2938400 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:2938400G>A uc001ajz.2 + 1 355 c.150G>A c.(148-150)GAG>GAA p.E50E NM_080431 NP_536356 Q8TDY3 ACTT2_HUMAN actin-related protein M2 50 cytoplasm|cytoskeleton 0 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) CCTCAGCAGAGGCCAACCAGA 0.627 15 15 --- --- --- --- PASS CCDC27 148870 broad.mit.edu 37 1 3679830 3679830 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:3679830G>A uc001akv.2 + 7 1194 c.1113G>A c.(1111-1113)GAG>GAA p.E371E NM_152492 NP_689705 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 371 Glu-rich. skin(1) 1 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) agggaagcgaggaggaggaag 0.398 4 12 --- --- --- --- PASS KIAA0562 9731 broad.mit.edu 37 1 3753130 3753130 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:3753130C>T uc001aky.2 - 10 1605 c.1246G>A c.(1246-1248)GAG>AAG p.E416K KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Missense_Mutation_p.E416K NM_014704 NP_055519 O60308 CE104_HUMAN glycine-, glutamate-, 416 centriole binding 0 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212) Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137) GGCTCTGGCTCCCCTAACATG 0.493 8 57 --- --- --- --- PASS CHD5 26038 broad.mit.edu 37 1 6202664 6202664 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:6202664G>A uc001amb.1 - 14 2145 c.2045C>T c.(2044-2046)CCC>CTC p.P682L CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 682 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CTTGACCGTGGGCTGCAGGGG 0.512 20 18 --- --- --- --- PASS CHD5 26038 broad.mit.edu 37 1 6212538 6212538 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:6212538C>T uc001amb.1 - 6 904 c.804G>A c.(802-804)GGG>GGA p.G268G NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 268 Lys-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CCGTCTTTTTCCCTTTGCCCT 0.443 13 21 --- --- --- --- PASS CAMTA1 23261 broad.mit.edu 37 1 7700505 7700505 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:7700505G>A uc001aoi.2 + 7 763 c.556G>A c.(556-558)GAG>AAG p.E186K NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 186 CG-1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GCCGGCCATCGAGGACTGCGG 0.612 26 29 --- --- --- --- PASS CAMTA1 23261 broad.mit.edu 37 1 7724082 7724082 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:7724082C>T uc001aoi.2 + 9 1682 c.1475C>T c.(1474-1476)CCA>CTA p.P492L NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 492 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CTTAATAACCCAAAGCAGGGC 0.592 14 36 --- --- --- --- PASS RERE 473 broad.mit.edu 37 1 8418356 8418356 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:8418356G>A uc001ape.2 - 21 5049 c.4239C>T c.(4237-4239)CCC>CCT p.P1413P RERE_uc001apf.2_Silent_p.P1413P|RERE_uc001apd.2_Silent_p.P859P NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 1413 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) GTCGGGCCAGGGGATCGCTGG 0.453 6 7 --- --- --- --- PASS SLC25A33 84275 broad.mit.edu 37 1 9642481 9642481 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:9642481C>T uc001apw.2 + 7 1111 c.888C>T c.(886-888)ATC>ATT p.I296I SLC25A33_uc001apx.2_Silent_p.I229I NM_032315 NP_115691 Q9BSK2 S2533_HUMAN mitochondrial carrier protein MGC4399 296 Solcar 3. transport integral to membrane|mitochondrial inner membrane 0 all_lung(157;0.246) all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419) CCCAGCTTATCCGGCAGATCC 0.478 11 17 --- --- --- --- PASS CLSTN1 22883 broad.mit.edu 37 1 9804666 9804666 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:9804666G>A uc001aqh.2 - 8 1780 c.1021C>T c.(1021-1023)CCG>TCG p.P341S CLSTN1_uc001aqi.2_Missense_Mutation_p.P331S|CLSTN1_uc010oag.1_Missense_Mutation_p.P341S NM_001009566 NP_001009566 O94985 CSTN1_HUMAN calsyntenin 1 isoform 1 341 Extracellular (Potential). homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding skin(1) 1 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) GATCCACTCGGGGATGGCAGC 0.652 6 6 --- --- --- --- PASS KIF1B 23095 broad.mit.edu 37 1 10384043 10384043 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:10384043C>T uc001aqx.3 + 25 2662 c.2460C>T c.(2458-2460)TTC>TTT p.F820F KIF1B_uc001aqw.3_Silent_p.F774F|KIF1B_uc001aqy.2_Silent_p.F794F|KIF1B_uc001aqz.2_Silent_p.F820F|KIF1B_uc001ara.2_Silent_p.F780F|KIF1B_uc001arb.2_Silent_p.F806F NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 820 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) ACAGGCCTTTCCCTCGCACAG 0.443 33 41 --- --- --- --- PASS PTCHD2 57540 broad.mit.edu 37 1 11561098 11561098 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:11561098G>A uc001ash.3 + 2 187 c.49G>A c.(49-51)GAG>AAG p.E17K PTCHD2_uc001asi.1_Missense_Mutation_p.E17K NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 17 Cytoplasmic (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GCTAGAGGAGGAGCAGGAGGA 0.617 9 19 --- --- --- --- PASS PTCHD2 57540 broad.mit.edu 37 1 11584057 11584057 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:11584057G>A uc001ash.3 + 11 2559 c.2421G>A c.(2419-2421)AAG>AAA p.K807K PTCHD2_uc001asi.1_Silent_p.K807K NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 807 Extracellular (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CCCTGGAGAAGAAGAGGCGAG 0.657 6 16 --- --- --- --- PASS PTCHD2 57540 broad.mit.edu 37 1 11595632 11595632 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:11595632G>A uc001ash.3 + 20 3885 c.3747G>A c.(3745-3747)GTG>GTA p.V1249V NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1249 Extracellular (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GCTCCTCCGTGGATTACTGCG 0.652 4 36 --- --- --- --- PASS CLCN6 1185 broad.mit.edu 37 1 11887200 11887200 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:11887200C>T uc001ate.3 + 10 875 c.762C>T c.(760-762)TTC>TTT p.F254F CLCN6_uc009vnf.1_Missense_Mutation_p.R258W|CLCN6_uc009vng.1_Missense_Mutation_p.R246W|CLCN6_uc009vnh.1_Silent_p.F254F|CLCN6_uc010oat.1_5'UTR|CLCN6_uc010oau.1_Silent_p.F232F NM_001286 NP_001277 P51797 CLCN6_HUMAN chloride channel 6 isoform ClC-6a 254 cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity 0 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) CTGCAGCTTTCGGGGCGCCAA 0.557 5 12 --- --- --- --- PASS PLOD1 5351 broad.mit.edu 37 1 12024743 12024743 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:12024743C>T uc001atm.2 + 13 1462 c.1371C>T c.(1369-1371)ATC>ATT p.I457I PLOD1_uc010obb.1_Silent_p.I504I NM_000302 NP_000293 Q02809 PLOD1_HUMAN lysyl hydroxylase 1 precursor 457 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity ovary(2)|breast(1) 3 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) TCTACTTGATCAAGGGCAGTG 0.582 30 33 --- --- --- --- PASS VPS13D 55187 broad.mit.edu 37 1 12403072 12403072 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:12403072C>T uc001atv.2 + 42 8990 c.8849C>T c.(8848-8850)CCC>CTC p.P2950L VPS13D_uc001atw.2_Missense_Mutation_p.P2925L|VPS13D_uc001atx.2_Missense_Mutation_p.P2137L NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 2949 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GAAGAGATTCCCTTTGAATTT 0.408 12 26 --- --- --- --- PASS LOC649330 649330 broad.mit.edu 37 1 12907391 12907391 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:12907391C>T uc009vno.2 - 1 847 c.752G>A c.(751-753)GGG>GAG p.G251E HNRNPCL1_uc010obf.1_Missense_Mutation_p.G251E NM_001146181 NP_001139653 B7ZW38 B7ZW38_HUMAN heterogeneous nuclear ribonucleoprotein C-like 251 nucleic acid binding|nucleotide binding 0 CAGTGGGTCCCCCTCCTCAGC 0.502 26 33 --- --- --- --- PASS KAZ 23254 broad.mit.edu 37 1 15428226 15428226 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:15428226C>T uc001avm.3 + 11 2016 c.1735C>T c.(1735-1737)CTG>TTG p.L579L KAZ_uc001avs.3_Silent_p.L26L NM_201628 NP_963922 Q674X7 KAZRN_HUMAN kazrin isoform E 579 SAM 2. keratinization cornified envelope|cytoplasm|desmosome|nucleus 0 GGTCAGCATCCTGCTGGGGAT 0.592 6 4 --- --- --- --- PASS TMEM51 55092 broad.mit.edu 37 1 15546138 15546138 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:15546138C>T uc001avw.3 + 4 1180 c.661C>T c.(661-663)CCA>TCA p.P221S TMEM51_uc010obk.1_Missense_Mutation_p.P221S|TMEM51_uc001avz.2_3'UTR|TMEM51_uc001avy.2_Missense_Mutation_p.P221S|TMEM51_uc001avx.2_Missense_Mutation_p.P221S NM_001136216 NP_001129688 Q9NW97 TMM51_HUMAN transmembrane protein 51 221 integral to membrane 0 Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751) GATCAACCTCCCAGACAAAAA 0.522 30 39 --- --- --- --- PASS RSC1A1 6248 broad.mit.edu 37 1 15987280 15987280 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:15987280C>T uc010obn.1 + 1 917 c.917C>T c.(916-918)TCC>TTC p.S306F NM_006511 NP_006502 Q92681 RSCA1_HUMAN regulatory solute carrier protein, family 1, 306 negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport cell junction|Golgi apparatus|nucleus ion channel inhibitor activity ovary(1) 1 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GATTCCATTTCCACTCAGGAT 0.383 17 23 --- --- --- --- PASS TMEM82 388595 broad.mit.edu 37 1 16074105 16074105 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:16074105C>T uc001axc.2 + 6 1148 c.1010C>T c.(1009-1011)TCC>TTC p.S337F NM_001013641 NP_001013663 A0PJX8 TMM82_HUMAN transmembrane protein 82 337 integral to membrane breast(1)|central_nervous_system(1) 2 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCACCCCAGTCCCAGAGTTCG 0.602 9 31 --- --- --- --- PASS SPEN 23013 broad.mit.edu 37 1 16261660 16261660 + Silent SNP G A A rs150393064 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:16261660G>A uc001axk.1 + 11 9129 c.8925G>A c.(8923-8925)CCG>CCA p.P2975P SPEN_uc010obp.1_Silent_p.P2934P NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 2975 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TCCTTCAGCCGGCCAACCTGG 0.597 6 25 --- --- --- --- PASS SPEN 23013 broad.mit.edu 37 1 16261661 16261661 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:16261661G>A uc001axk.1 + 11 9130 c.8926G>A c.(8926-8928)GCC>ACC p.A2976T SPEN_uc010obp.1_Missense_Mutation_p.A2935T NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 2976 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CCTTCAGCCGGCCAACCTGGG 0.602 6 23 --- --- --- --- PASS SPEN 23013 broad.mit.edu 37 1 16261936 16261936 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:16261936C>T uc001axk.1 + 11 9405 c.9201C>T c.(9199-9201)TTC>TTT p.F3067F SPEN_uc010obp.1_Silent_p.F3026F NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 3067 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TGCCCCAGTTCATCTCCAGCA 0.607 8 32 --- --- --- --- PASS EPHA2 1969 broad.mit.edu 37 1 16456870 16456870 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:16456870C>T uc001aya.1 - 15 2657 c.2520G>A c.(2518-2520)ATG>ATA p.M840I NM_004431 NP_004422 P29317 EPHA2_HUMAN ephrin receptor EphA2 precursor 840 Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential). activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding lung(3)|central_nervous_system(3)|stomach(2)|ovary(2) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) AGGGGCAGTCCATGGGTGTGG 0.622 7 7 --- --- --- --- PASS FBXO42 54455 broad.mit.edu 37 1 16577480 16577480 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:16577480G>A uc001ayg.2 - 10 2055 c.1839C>T c.(1837-1839)TCC>TCT p.S613S FBXO42_uc001aye.3_Silent_p.S331S|FBXO42_uc001ayf.2_Silent_p.S520S NM_018994 NP_061867 Q6P3S6 FBX42_HUMAN F-box protein 42 613 upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) TGGGAGGTAAGGAATGTCCAT 0.577 8 55 --- --- --- --- PASS NBPF1 55672 broad.mit.edu 37 1 16895700 16895700 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:16895700G>A uc009vos.1 - 23 3370 c.2482C>T c.(2482-2484)CCC>TCC p.P828S NBPF1_uc009vot.1_Missense_Mutation_p.P286S|NBPF1_uc001ayz.1_Missense_Mutation_p.P286S|NBPF1_uc010oce.1_Missense_Mutation_p.P557S NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 828 NBPF 4. cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GACTCCTGGGGGACTTCCTCC 0.478 14 148 --- --- --- --- PASS CROCC 9696 broad.mit.edu 37 1 17257888 17257888 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:17257888G>A uc001azt.2 + 8 1021 c.952G>A c.(952-954)GAG>AAG p.E318K CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_Missense_Mutation_p.E81K NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 318 Potential. cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GATGTTCACTGAGAGGTGAGG 0.587 7 16 --- --- --- --- PASS IGSF21 84966 broad.mit.edu 37 1 18661419 18661419 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:18661419C>T uc001bau.1 + 4 722 c.339C>T c.(337-339)CCC>CCT p.P113P NM_032880 NP_116269 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 precursor 113 Ig-like 1. extracellular region ovary(2)|large_intestine(1)|skin(1) 4 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) ACAATGGTCCCTATGAGTGCC 0.617 7 24 --- --- --- --- PASS IGSF21 84966 broad.mit.edu 37 1 18691905 18691905 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:18691905G>T uc001bau.1 + 6 1112 c.729G>T c.(727-729)ACG>ACT p.T243T IGSF21_uc001bav.1_Silent_p.T64T NM_032880 NP_116269 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 precursor 243 extracellular region ovary(2)|large_intestine(1)|skin(1) 4 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) GACCCTACACGGAGCGCCCCT 0.637 18 43 --- --- --- --- PASS IGSF21 84966 broad.mit.edu 37 1 18692001 18692001 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:18692001C>T uc001bau.1 + 6 1208 c.825C>T c.(823-825)CCC>CCT p.P275P IGSF21_uc001bav.1_Silent_p.P96P NM_032880 NP_116269 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 precursor 275 extracellular region ovary(2)|large_intestine(1)|skin(1) 4 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) GTGAGTTTCCCCGCTGGGTCC 0.657 16 54 --- --- --- --- PASS TMCO4 255104 broad.mit.edu 37 1 20009544 20009544 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:20009544C>T uc001bcn.2 - 16 2136 c.1894G>A c.(1894-1896)GGG>AGG p.G632R TMCO4_uc001bcm.2_Missense_Mutation_p.G463R|TMCO4_uc001bco.1_Intron|TMCO4_uc001bcp.1_Intron NM_181719 NP_859070 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 632 integral to membrane 0 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) CAGTCCAGCCCCGTGCTGGGG 0.642 20 26 --- --- --- --- PASS PINK1 65018 broad.mit.edu 37 1 20970992 20970992 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:20970992G>A uc001bdm.2 + 4 880 c.786G>A c.(784-786)AAG>AAA p.K262K NM_032409 NP_115785 Q9BXM7 PINK1_HUMAN PTEN induced putative kinase 1 precursor 262 Protein kinase.|Cytoplasmic (Potential). cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress cytosol|integral to membrane|mitochondrial outer membrane ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding ovary(2)|central_nervous_system(1) 3 all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GAAAATCCAAGAGAGGTCCCA 0.552 22 69 --- --- --- --- PASS KIF17 57576 broad.mit.edu 37 1 21014322 21014322 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:21014322C>T uc001bdr.3 - 8 1615 c.1497G>A c.(1495-1497)AAG>AAA p.K499K KIF17_uc001bdp.3_5'Flank|KIF17_uc001bdq.3_5'Flank|KIF17_uc009vpx.2_Intron|KIF17_uc001bds.3_Silent_p.K499K NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 499 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) TGGAGAAGACCTTGGGTTTCA 0.557 30 47 --- --- --- --- PASS ALPL 249 broad.mit.edu 37 1 21889736 21889736 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:21889736G>A uc001bet.2 + 5 688 c.431G>A c.(430-432)GGG>GAG p.G144E ALPL_uc010odn.1_Missense_Mutation_p.G92E|ALPL_uc010odo.1_Missense_Mutation_p.G89E|ALPL_uc010odp.1_Missense_Mutation_p.G67E|ALPL_uc001beu.3_Missense_Mutation_p.G144E NM_000478 NP_000469 P05186 PPBT_HUMAN tissue-nonspecific alkaline phosphatase 144 response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) ACCACCCAGGGGAACGAGGTC 0.572 9 34 --- --- --- --- PASS ALPL 249 broad.mit.edu 37 1 21889737 21889737 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:21889737G>A uc001bet.2 + 5 689 c.432G>A c.(430-432)GGG>GGA p.G144G ALPL_uc010odn.1_Silent_p.G92G|ALPL_uc010odo.1_Silent_p.G89G|ALPL_uc010odp.1_Silent_p.G67G|ALPL_uc001beu.3_Silent_p.G144G NM_000478 NP_000469 P05186 PPBT_HUMAN tissue-nonspecific alkaline phosphatase 144 response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) CCACCCAGGGGAACGAGGTCA 0.567 10 34 --- --- --- --- PASS HSPG2 3339 broad.mit.edu 37 1 22179315 22179315 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:22179315G>A uc001bfj.2 - 52 6642 c.6602C>T c.(6601-6603)TCG>TTG p.S2201L HSPG2_uc009vqd.2_Missense_Mutation_p.S2202L NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 2201 Ig-like C2-type 7. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CCGCAGCAGCGAGCCGTGGGT 0.682 4 14 --- --- --- --- PASS EPHA8 2046 broad.mit.edu 37 1 22924242 22924242 + Silent SNP C T T rs145768889 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:22924242C>T uc001bfx.1 + 11 2129 c.2004C>T c.(2002-2004)GCC>GCT p.A668A NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 668 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCATCAAGGCCCTCAAAGCCG 0.662 17 23 --- --- --- --- PASS C1QA 712 broad.mit.edu 37 1 22965797 22965797 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:22965797G>A uc001bfy.2 + 3 720 c.635G>A c.(634-636)GGT>GAT p.G212D C1QA_uc001bfz.2_Missense_Mutation_p.G212D NM_015991 NP_057075 P02745 C1QA_HUMAN complement component 1, q subcomponent, A chain 212 C1q. cell-cell signaling|complement activation, classical pathway|innate immune response collagen|complement component C1 complex 0 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CTGCAGCAGGGTGACCAGGTC 0.597 8 37 --- --- --- --- PASS C1QB 713 broad.mit.edu 37 1 22987772 22987772 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:22987772G>A uc001bgd.2 + 3 787 c.655G>A c.(655-657)GGG>AGG p.G219R NM_000491 NP_000482 P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 219 C1q. complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GCTGGAGCAGGGGGAGAACGT 0.582 21 27 --- --- --- --- PASS EPHB2 2048 broad.mit.edu 37 1 23107970 23107970 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:23107970C>T uc009vqj.1 + 2 263 c.118C>T c.(118-120)CCA>TCA p.P40S EPHB2_uc001bge.2_Missense_Mutation_p.P40S|EPHB2_uc001bgf.2_Missense_Mutation_p.P40S|EPHB2_uc010odu.1_Missense_Mutation_p.P40S NM_017449 NP_059145 P29323 EPHB2_HUMAN ephrin receptor EphB2 isoform 1 precursor 40 Extracellular (Potential). axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity ovary(3)|lung(1)|pancreas(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GGTGCATCCTCCATCAGGGGT 0.597 Hereditary_Prostate_Cancer 16 15 --- --- --- --- PASS CNR2 1269 broad.mit.edu 37 1 24201817 24201817 + Silent SNP G A A rs144279977 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:24201817G>A uc001bif.2 - 2 418 c.291C>T c.(289-291)TTC>TTT p.F97F NM_001841 NP_001832 P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 97 Extracellular (Potential). behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity skin(2)|central_nervous_system(1) 3 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) CCACACCATGGAAAACATGGA 0.547 24 39 --- --- --- --- PASS MYOM3 127294 broad.mit.edu 37 1 24401903 24401903 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:24401903G>A uc001bin.3 - 22 2927 c.2764C>T c.(2764-2766)CCT>TCT p.P922S MYOM3_uc001bim.3_Missense_Mutation_p.P579S|MYOM3_uc001bio.2_Missense_Mutation_p.P922S NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 922 skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GGGGCTTCAGGGGCTTCAAAA 0.463 9 36 --- --- --- --- PASS IL22RA1 58985 broad.mit.edu 37 1 24448054 24448054 + Silent SNP G A A rs151086369 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:24448054G>A uc001biq.1 - 7 1005 c.966C>T c.(964-966)TCC>TCT p.S322S IL22RA1_uc010oeg.1_Silent_p.S254S|IL22RA1_uc009vrb.1_Silent_p.S186S|IL22RA1_uc010oeh.1_Silent_p.S322S NM_021258 NP_067081 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 precursor 322 Cytoplasmic (Potential). 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) AGGTGATCTCGGACAGGCTAT 0.637 8 21 --- --- --- --- PASS GRHL3 57822 broad.mit.edu 37 1 24663599 24663599 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:24663599C>T uc001biy.2 + 5 705 c.659C>T c.(658-660)TCC>TTC p.S220F GRHL3_uc001bix.2_Missense_Mutation_p.S215F|GRHL3_uc001biz.2_Missense_Mutation_p.S122F NM_021180 NP_067003 Q8TE85 GRHL3_HUMAN sister-of-mammalian grainyhead protein isoform 215 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) CTGAAAACCTCCCCGGAACCC 0.537 7 19 --- --- --- --- PASS RCAN3 11123 broad.mit.edu 37 1 24861622 24861622 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:24861622C>T uc001bjj.2 + 5 894 c.581C>T c.(580-582)CCC>CTC p.P194L RCAN3_uc009vrd.2_Missense_Mutation_p.P184L|RCAN3_uc009vre.2_Missense_Mutation_p.P136L|RCAN3_uc009vrf.2_Missense_Mutation_p.P137S|RCAN3_uc009vrg.2_Missense_Mutation_p.P79S NM_013441 NP_038469 Q9UKA8 RCAN3_HUMAN Down syndrome critical region gene 1-like 2 194 anatomical structure morphogenesis|calcium-mediated signaling nucleotide binding|RNA binding|troponin I binding 0 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14) GAGTCGACACCCAGCGTGGTG 0.473 6 26 --- --- --- --- PASS SRRM1 10250 broad.mit.edu 37 1 24993329 24993329 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:24993329C>T uc001bjm.2 + 13 1876 c.1652C>T c.(1651-1653)TCC>TTC p.S551F SRRM1_uc010oel.1_Missense_Mutation_p.S563F|SRRM1_uc009vrh.1_Missense_Mutation_p.S524F|SRRM1_uc009vri.1_Missense_Mutation_p.S480F|SRRM1_uc010oem.1_RNA NM_005839 NP_005830 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 551 Pro-rich.|Necessary for speckles and matrix localization.|Arg-rich.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) AGAAGTCCATCCCCACCACCC 0.413 5 17 --- --- --- --- PASS C1orf63 57035 broad.mit.edu 37 1 25572955 25572955 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:25572955G>A uc001bjw.2 - 2 752 c.500C>T c.(499-501)CCC>CTC p.P167L NM_020317 NP_064713 Q9BUV0 CA063_HUMAN hypothetical protein LOC57035 167 Arg-rich. pancreas(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TAAGCGAAAGGGGGTTCTGCT 0.547 8 77 --- --- --- --- PASS PAQR7 164091 broad.mit.edu 37 1 26189845 26189845 + Silent SNP G A A rs146982273 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:26189845G>A uc001bkx.2 - 2 1153 c.486C>T c.(484-486)ATC>ATT p.I162I NM_178422 NP_848509 Q86WK9 MPRA_HUMAN progestin and adipoQ receptor family member VII 162 Extracellular (Potential). cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding breast(3) 3 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649) AGGCGGGCTCGATAGCATAGT 0.547 12 65 --- --- --- --- PASS SLC30A2 7780 broad.mit.edu 37 1 26369942 26369942 + Silent SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:26369942A>G uc001blh.1 - 3 589 c.372T>C c.(370-372)ATT>ATC p.I124I SLC30A2_uc001blg.1_Silent_p.I173I NM_032513 NP_115902 Q9BRI3 ZNT2_HUMAN solute carrier family 30, member 2 isoform 2 124 Vacuolar (Potential). positive regulation of sequestering of zinc ion|zinc ion transport integral to membrane|late endosome|lysosomal membrane cation transmembrane transporter activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649) TCCCCCCGTCAATTTCATAGT 0.612 5 22 --- --- --- --- PASS CCDC21 64793 broad.mit.edu 37 1 26596025 26596025 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:26596025C>T uc001bls.1 + 9 1700 c.1569C>T c.(1567-1569)ACC>ACT p.T523T CCDC21_uc001blr.2_Silent_p.T523T|CCDC21_uc010ofa.1_Silent_p.T472T|CCDC21_uc001blt.1_5'UTR NM_022778 NP_073615 Q6P2H3 CEP85_HUMAN coiled-coil domain containing 21 523 Potential. centrosome|nucleolus|spindle pole 0 all_cancers(24;7e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.6e-26)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;9.48e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00917)|READ - Rectum adenocarcinoma(331;0.0649) TGGAGGAGACCCAGGCAATCT 0.488 7 30 --- --- --- --- PASS ARID1A 8289 broad.mit.edu 37 1 27056296 27056296 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:27056296C>A uc001bmv.1 + 2 1665 c.1292C>A c.(1291-1293)CCG>CAG p.P431Q ARID1A_uc001bmt.1_Missense_Mutation_p.P431Q|ARID1A_uc001bmu.1_Missense_Mutation_p.P431Q|ARID1A_uc001bmw.1_Missense_Mutation_p.P48Q NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 431 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CAGCGGTACCCGATGACCATG 0.602 Mis|N|F|S|D clear cell ovarian carcinoma|RCC 3 14 --- --- --- --- PASS ARID1A 8289 broad.mit.edu 37 1 27100302 27100302 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:27100302C>T uc001bmv.1 + 17 4387 c.4014C>T c.(4012-4014)TCC>TCT p.S1338S ARID1A_uc001bmt.1_Silent_p.S1337S|ARID1A_uc001bmu.1_Silent_p.S1338S|ARID1A_uc001bmw.1_Silent_p.S955S|ARID1A_uc001bmx.1_Silent_p.S184S|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1338 Gln-rich. androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.S1338fs*106(2) ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GACATGATTCCTATGGCAATC 0.532 Mis|N|F|S|D clear cell ovarian carcinoma|RCC 79 98 --- --- --- --- PASS ARID1A 8289 broad.mit.edu 37 1 27106700 27106700 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:27106700C>T uc001bmv.1 + 20 6684 c.6311C>T c.(6310-6312)TCC>TTC p.S2104F ARID1A_uc001bmu.1_Missense_Mutation_p.S1887F|ARID1A_uc001bmx.1_Missense_Mutation_p.S950F|ARID1A_uc009vsm.1_Missense_Mutation_p.S432F|ARID1A_uc009vsn.1_Missense_Mutation_p.S346F NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 2104 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GACCCCTTTTCCACCCTGGGC 0.577 Mis|N|F|S|D clear cell ovarian carcinoma|RCC 25 57 --- --- --- --- PASS GPATCH3 63906 broad.mit.edu 37 1 27217599 27217599 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:27217599G>A uc001bne.2 - 7 1509 c.1480C>T c.(1480-1482)CTC>TTC p.L494F GPN2_uc001bnd.1_5'Flank|GPATCH3_uc009vsp.1_Missense_Mutation_p.L305F NM_022078 NP_071361 Q96I76 GPTC3_HUMAN G patch domain containing 3 494 intracellular nucleic acid binding 0 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) TGGCGGCGGAGCAGTGACTCC 0.572 8 10 --- --- --- --- PASS C1orf172 126695 broad.mit.edu 37 1 27278630 27278630 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:27278630C>T uc001bni.1 - 2 331 c.242G>A c.(241-243)TGG>TAG p.W81* NM_152365 NP_689578 Q8NAX2 CA172_HUMAN hypothetical protein LOC126695 81 Cys-rich. large_intestine(1)|ovary(1) 2 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) CTCCCACACCCAGGGTCGCCA 0.672 6 8 --- --- --- --- PASS SLC9A1 6548 broad.mit.edu 37 1 27427075 27427075 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:27427075G>T uc001bnm.2 - 12 2797 c.2171C>A c.(2170-2172)CCG>CAG p.P724Q SLC9A1_uc001bnl.2_Missense_Mutation_p.P228Q|SLC9A1_uc010ofk.1_Missense_Mutation_p.P385Q NM_003047 NP_003038 P19634 SL9A1_HUMAN solute carrier family 9, isoform A1 724 Cytoplasmic (Potential). regulation of pH integral to membrane sodium:hydrogen antiporter activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) GGGTGACTGCGGGGAAGCCGG 0.607 5 131 --- --- --- --- PASS PUM1 9698 broad.mit.edu 37 1 31437699 31437699 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:31437699G>A uc001bsi.1 - 14 2258 c.2145C>T c.(2143-2145)GAC>GAT p.D715D PUM1_uc001bsf.1_Silent_p.D381D|PUM1_uc001bsg.1_Intron|PUM1_uc001bsh.1_Silent_p.D715D|PUM1_uc001bsj.1_Silent_p.D689D|PUM1_uc010oga.1_Silent_p.D571D|PUM1_uc001bsk.1_Silent_p.D751D|PUM1_uc010ogb.1_Silent_p.D656D NM_014676 NP_055491 Q14671 PUM1_HUMAN pumilio 1 isoform 2 715 Ser-rich. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) TCTTATAAAGGTCACTGCTGC 0.507 5 29 --- --- --- --- PASS TINAGL1 64129 broad.mit.edu 37 1 32051059 32051059 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:32051059G>A uc001bta.2 + 9 1192 c.1066G>A c.(1066-1068)GAG>AAG p.E356K TINAGL1_uc001bsz.2_Missense_Mutation_p.E211K|TINAGL1_uc010ogj.1_Missense_Mutation_p.E325K|TINAGL1_uc010ogk.1_Missense_Mutation_p.E356K NM_022164 NP_071447 Q9GZM7 TINAL_HUMAN tubulointerstitial nephritis antigen-like 1 356 endosome transport|immune response|proteolysis extracellular region cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity 0 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145) GATCATGAAGGAGCTGATGGA 0.577 37 66 --- --- --- --- PASS KPNA6 23633 broad.mit.edu 37 1 32626221 32626221 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:32626221C>T uc001bug.2 + 7 652 c.564C>T c.(562-564)GTC>GTT p.V188V KPNA6_uc001buh.2_5'UTR|KPNA6_uc010ogx.1_Silent_p.V185V|KPNA6_uc010ogy.1_Silent_p.V193V|KPNA6_uc009vtz.2_Silent_p.V83V NM_012316 NP_036448 O60684 IMA7_HUMAN karyopherin alpha 6 188 ARM 3.|NLS binding site (major) (By similarity). NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) TTCAGGCAGTCTGGGCACTGG 0.438 8 14 --- --- --- --- PASS DCDC2B 149069 broad.mit.edu 37 1 32680440 32680440 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:32680440G>A uc001bun.2 + 7 757 c.757G>A c.(757-759)GAA>AAA p.E253K C1orf91_uc001buo.3_RNA|C1orf91_uc001bup.3_RNA NM_001099434 NP_001092904 A2VCK2 DCD2B_HUMAN doublecortin domain containing 2B 253 intracellular signal transduction 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CTCTCCAAAGGAACCAGACCG 0.557 24 42 --- --- --- --- PASS RBBP4 5928 broad.mit.edu 37 1 33134917 33134917 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:33134917C>T uc001bvr.2 + 7 1006 c.847C>T c.(847-849)CCT>TCT p.P283S RBBP4_uc001bvs.2_Missense_Mutation_p.P282S|RBBP4_uc010ohj.1_Missense_Mutation_p.P31S|RBBP4_uc010ohk.1_Missense_Mutation_p.P248S NM_005610 NP_005601 Q09028 RBBP4_HUMAN retinoblastoma binding protein 4 isoform a 283 WD 4. cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex histone binding|histone deacetylase binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) TTCTTTCAATCCTTATAGTGA 0.368 16 39 --- --- --- --- PASS KIAA1522 57648 broad.mit.edu 37 1 33236902 33236902 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:33236902C>T uc001bvv.2 + 6 2081 c.1945C>T c.(1945-1947)CCC>TCC p.P649S KIAA1522_uc001bvu.1_Missense_Mutation_p.P708S|KIAA1522_uc010ohm.1_Missense_Mutation_p.P660S|KIAA1522_uc010ohn.1_Intron NM_020888 NP_065939 Q9P206 K1522_HUMAN hypothetical protein LOC57648 649 Pro-rich. 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) TCAGTCCCCTCCCACTCCCCA 0.622 16 21 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34066511 34066511 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:34066511G>T uc001bxn.1 - 45 6845 c.6816C>A c.(6814-6816)TTC>TTA p.F2272L CSMD2_uc001bxm.1_Missense_Mutation_p.F2270L|CSMD2_uc001bxo.1_Missense_Mutation_p.F1143L NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2272 Extracellular (Potential).|CUB 13. integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CATCACGGTGGAACTTGAGCA 0.448 32 32 --- --- --- --- PASS HMGB4 127540 broad.mit.edu 37 1 34330140 34330140 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:34330140G>A uc001bxp.2 + 2 2091 c.348G>A c.(346-348)CCG>CCA p.P116P CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxq.2_Silent_p.P42P NM_145205 NP_660206 Q8WW32 HMGB4_HUMAN HMG2 like isoform 1 116 nucleus DNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GGGAGAACCCGAACTGGTCGG 0.567 16 41 --- --- --- --- PASS GJB4 127534 broad.mit.edu 37 1 35227199 35227199 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:35227199C>T uc001bxv.1 + 2 714 c.344C>T c.(343-345)TCC>TTC p.S115F GJB4_uc001bxw.3_Missense_Mutation_p.S115F NM_153212 NP_694944 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4 115 Cytoplasmic (Potential). cell communication connexon complex|integral to membrane gap junction channel activity ovary(2)|central_nervous_system(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) AATGCCCCGTCCCTGTACGAC 0.617 8 22 --- --- --- --- PASS EIF2C3 192669 broad.mit.edu 37 1 36439031 36439031 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:36439031C>T uc001bzp.2 + 5 833 c.577C>T c.(577-579)CTG>TTG p.L193L EIF2C3_uc001bzn.1_Silent_p.L193L|EIF2C3_uc001bzo.2_RNA|EIF2C3_uc001bzq.2_Intron NM_024852 NP_079128 Q9H9G7 AGO3_HUMAN eukaryotic translation initiation factor 2C, 3 193 mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TGACCACCCTCTGGGAGGGGG 0.463 35 62 --- --- --- --- PASS C1orf113 79729 broad.mit.edu 37 1 36785735 36785735 + Missense_Mutation SNP T G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:36785735T>G uc010oia.1 + 14 1499 c.1471T>G c.(1471-1473)TCT>GCT p.S491A C1orf113_uc010oib.1_Missense_Mutation_p.S380A|C1orf113_uc010oic.1_RNA|C1orf113_uc009vuz.1_Missense_Mutation_p.S137A NM_001162530 NP_001156002 A4FU49 SH321_HUMAN SH3 domain-containing protein C1orf113 isoform 375 0 Myeloproliferative disorder(586;0.0393) CCCAGAGCTTTCTGAAGAAGA 0.512 9 48 --- --- --- --- PASS INPP5B 3633 broad.mit.edu 37 1 38409561 38409561 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:38409561A>T uc001ccg.1 - 4 251 c.157T>A c.(157-159)TTC>ATC p.F53I INPP5B_uc009vvk.1_5'UTR|INPP5B_uc001cch.2_5'UTR NM_005540 NP_005531 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 53 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding urinary_tract(1) 1 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GTATAGAGGAAGAGACTAAGG 0.602 7 46 --- --- --- --- PASS RHBDL2 54933 broad.mit.edu 37 1 39361688 39361688 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:39361688C>T uc001ccu.1 - 5 790 c.562G>A c.(562-564)GGA>AGA p.G188R RHBDL2_uc010oin.1_Missense_Mutation_p.G188R|RHBDL2_uc010oio.1_Missense_Mutation_p.G268R NM_017821 NP_060291 Q9NX52 RHBL2_HUMAN rhomboid protease 2 188 Helical; (Potential). proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity 0 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) TAGACTCCTCCTGAAGCTCCC 0.443 14 14 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39800237 39800237 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:39800237G>A uc010oiu.1 + 1 3428 c.3297G>A c.(3295-3297)GTG>GTA p.V1099V 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 2664 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) AAGATGGGGTGAGCGACAAAG 0.403 7 24 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39903523 39903523 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:39903523C>T uc010oiu.1 + 36 13523 c.13392C>T c.(13390-13392)ATC>ATT p.I4464I MACF1_uc010ois.1_Silent_p.I3962I NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) CACCACTGATCCCTGCTGAAG 0.463 14 88 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39927685 39927685 + Silent SNP C A A rs116271948 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:39927685C>A uc010oiu.1 + 58 17114 c.16983C>A c.(16981-16983)ACC>ACA p.T5661T MACF1_uc010ois.1_Silent_p.T5159T|MACF1_uc001cde.1_Silent_p.T36T|MACF1_uc001cdf.1_Silent_p.T36T NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 7117 C-terminal tail (By similarity).|GAR. 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) GACCAACAACCGATGCAGATA 0.408 4 72 --- --- --- --- PASS NT5C1A 84618 broad.mit.edu 37 1 40131857 40131857 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:40131857G>A uc001cdq.1 - 2 187 c.187C>T c.(187-189)CGC>TGC p.R63C NM_032526 NP_115915 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 63 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding ovary(1) 1 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TCGTCCATGCGAAACAAGGCT 0.597 17 22 --- --- --- --- PASS ZNF643 65243 broad.mit.edu 37 1 40929061 40929061 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:40929061C>T uc001cfn.1 + 5 1702 c.1405C>T c.(1405-1407)CAT>TAT p.H469Y ZNF643_uc001cfl.1_Missense_Mutation_p.H367Y|ZNF643_uc001cfm.1_Missense_Mutation_p.H335Y NM_023070 NP_075558 Q9UJL9 ZN643_HUMAN zinc finger protein 643 469 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.25e-18) TCAGAGAGTCCATACTGGAGT 0.393 15 22 --- --- --- --- PASS KCNQ4 9132 broad.mit.edu 37 1 41285134 41285134 + Missense_Mutation SNP G T T rs28937589 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:41285134G>T uc001cgh.1 + 5 906 c.824G>T c.(823-825)TGG>TTG p.W275L KCNQ4_uc001cgi.1_Missense_Mutation_p.W275L NM_004700 NP_004691 P56696 KCNQ4_HUMAN potassium voltage-gated channel KQT-like protein 275 sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1) 1 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) GACTCGCTCTGGTGGGGGACG 0.617 25 44 --- --- --- --- PASS HIVEP3 59269 broad.mit.edu 37 1 42047565 42047565 + Silent SNP G C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:42047565G>C uc001cgz.3 - 4 4117 c.2904C>G c.(2902-2904)CCC>CCG p.P968P HIVEP3_uc001cha.3_Silent_p.P968P|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 968 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CCAGGGGTTTGGGGCGCATGT 0.602 6 42 --- --- --- --- PASS HIVEP3 59269 broad.mit.edu 37 1 42047975 42047975 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:42047975G>A uc001cgz.3 - 4 3707 c.2494C>T c.(2494-2496)CCA>TCA p.P832S HIVEP3_uc001cha.3_Missense_Mutation_p.P832S|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 832 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGGGCAGGTGGGGGTGATGGG 0.572 10 51 --- --- --- --- PASS ERMAP 114625 broad.mit.edu 37 1 43300733 43300733 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:43300733C>T uc001cic.1 + 5 728 c.458C>T c.(457-459)CCC>CTC p.P153L ERMAP_uc010ojw.1_Missense_Mutation_p.P214L|ERMAP_uc001cid.1_RNA|ERMAP_uc001cie.1_Missense_Mutation_p.P153L|ERMAP_uc001cif.1_Missense_Mutation_p.P63L NM_001017922 NP_001017922 Q96PL5 ERMAP_HUMAN erythroblast membrane-associated protein 153 Extracellular (Potential). Missing (in Sc-3 allele). integral to membrane|plasma membrane ovary(1) 1 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AGTCTCTCCCCCTCAGCAGTG 0.532 24 44 --- --- --- --- PASS TIE1 7075 broad.mit.edu 37 1 43778105 43778105 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:43778105G>A uc001ciu.2 + 12 1839 c.1760G>A c.(1759-1761)GGG>GAG p.G587E TIE1_uc010okd.1_Missense_Mutation_p.G587E|TIE1_uc010oke.1_Missense_Mutation_p.G542E|TIE1_uc009vwq.2_Missense_Mutation_p.G543E|TIE1_uc010okf.1_Missense_Mutation_p.G232E|TIE1_uc010okg.1_Missense_Mutation_p.G232E NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 587 Fibronectin type-III 2.|Extracellular (Potential). mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTGTGGGACGGGACACGGGGG 0.692 7 10 --- --- --- --- PASS KIAA0467 23334 broad.mit.edu 37 1 43898414 43898414 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:43898414C>T uc001cjk.1 + 24 3311 c.2849C>T c.(2848-2850)CCC>CTC p.P950L NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 1849 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CAGCCTGGGCCCAGCCGGGGA 0.572 4 13 --- --- --- --- PASS IPO13 9670 broad.mit.edu 37 1 44422081 44422081 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:44422081C>T uc001ckx.2 + 3 1706 c.911C>T c.(910-912)ACC>ATC p.T304I NM_014652 NP_055467 O94829 IPO13_HUMAN importin 13 304 HEAT 4. protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) GACATGGAGACCTCCCATGGC 0.587 9 15 --- --- --- --- PASS IPO13 9670 broad.mit.edu 37 1 44422082 44422082 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:44422082C>T uc001ckx.2 + 3 1707 c.912C>T c.(910-912)ACC>ACT p.T304T NM_014652 NP_055467 O94829 IPO13_HUMAN importin 13 304 HEAT 4. protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) ACATGGAGACCTCCCATGGCA 0.587 9 15 --- --- --- --- PASS B4GALT2 8704 broad.mit.edu 37 1 44446940 44446940 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:44446940C>T uc001clg.2 + 2 478 c.108C>T c.(106-108)GCC>GCT p.A36A B4GALT2_uc001clh.2_5'UTR|B4GALT2_uc010okl.1_Silent_p.A65A|B4GALT2_uc001cli.2_Silent_p.A36A NM_003780 NP_003771 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 36 Helical; Signal-anchor for type II membrane protein; (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) ACGTCTACGCCCAGCACCTGG 0.587 9 32 --- --- --- --- PASS KIF2C 11004 broad.mit.edu 37 1 45213357 45213357 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:45213357C>T uc001cmg.3 + 4 416 c.301C>T c.(301-303)CCT>TCT p.P101S KIF2C_uc010olb.1_Missense_Mutation_p.P101S|KIF2C_uc010olc.1_5'UTR|KIF2C_uc001cmh.3_Missense_Mutation_p.P47S NM_006845 NP_006836 Q99661 KIF2C_HUMAN kinesin family member 2C 101 Microtubule tip localization signal.|Globular (Potential). IP->NN: Loss of interaction with MAPRE1 and association with microtubule growing ends. blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) CTCCAAAATTCCTGCTCCAAA 0.398 4 14 --- --- --- --- PASS RPS8 6202 broad.mit.edu 37 1 45243440 45243440 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:45243440C>T uc001cmi.2 + 4 389 c.366C>T c.(364-366)GGC>GGT p.G122G SNORD38A_uc009vxi.2_5'Flank|SNORD38B_uc001cml.2_5'Flank NM_001012 NP_001003 P62241 RS8_HUMAN ribosomal protein S8 122 endocrine pancreas development|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|structural constituent of ribosome ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) TGCCCCTGGGCCGCAAGAAGG 0.577 4 25 --- --- --- --- PASS RPS8 6202 broad.mit.edu 37 1 45243441 45243441 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:45243441C>T uc001cmi.2 + 4 390 c.367C>T c.(367-369)CGC>TGC p.R123C SNORD38A_uc009vxi.2_5'Flank|SNORD38B_uc001cml.2_5'Flank NM_001012 NP_001003 P62241 RS8_HUMAN ribosomal protein S8 123 endocrine pancreas development|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|structural constituent of ribosome ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) GCCCCTGGGCCGCAAGAAGGG 0.582 4 26 --- --- --- --- PASS BEST4 266675 broad.mit.edu 37 1 45250841 45250841 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:45250841G>T uc001cmm.2 - 6 900 c.851C>A c.(850-852)CCG>CAG p.P284Q NM_153274 NP_695006 Q8NFU0 BEST4_HUMAN bestrophin 4 284 Extracellular (Potential). chloride channel complex|plasma membrane chloride channel activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) GTACATGTCCGGGTCTCCCAG 0.622 4 40 --- --- --- --- PASS EIF2B3 8891 broad.mit.edu 37 1 45347342 45347342 + Silent SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:45347342T>A uc001cmt.1 - 7 853 c.726A>T c.(724-726)TCA>TCT p.S242S EIF2B3_uc001cmu.1_Silent_p.S242S|EIF2B3_uc001cmv.1_Silent_p.S242S|EIF2B3_uc001cmw.2_Silent_p.S242S NM_020365 NP_065098 Q9NR50 EI2BG_HUMAN eukaryotic translation initiation factor 2B, 242 negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex nucleotidyltransferase activity|protein binding|translation initiation factor activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) GTCCCTGTTGTGAGGAAGCTG 0.413 35 45 --- --- --- --- PASS MAST2 23139 broad.mit.edu 37 1 46290251 46290251 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:46290251G>T uc001cov.2 + 2 607 c.324G>T c.(322-324)TCG>TCT p.S108S MAST2_uc001cow.2_Silent_p.S108S NM_015112 NP_055927 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 108 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity ovary(5)|lung(3)|stomach(2)|breast(1) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) GCTCTCTATCGGGTAAATATC 0.373 4 97 --- --- --- --- PASS MAST2 23139 broad.mit.edu 37 1 46497954 46497954 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:46497954C>T uc001cov.2 + 25 3575 c.3292C>T c.(3292-3294)CTT>TTT p.L1098F MAST2_uc001cow.2_Missense_Mutation_p.L1098F|MAST2_uc001cpa.2_Intron NM_015112 NP_055927 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 1098 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity ovary(5)|lung(3)|stomach(2)|breast(1) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CTTGCCAGCCCTTGGCAGCAT 0.597 21 35 --- --- --- --- PASS LRRC41 10489 broad.mit.edu 37 1 46746910 46746910 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:46746910G>A uc001cpn.2 - 5 1687 c.1643C>T c.(1642-1644)CCC>CTC p.P548L LRRC41_uc010omb.1_Missense_Mutation_p.P548L NM_006369 NP_006360 Q15345 LRC41_HUMAN MUF1 protein 548 LRR 3. ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(166;0.155) CCGTAGCAGGGGCAGTGCTCG 0.612 7 18 --- --- --- --- PASS CYP4X1 260293 broad.mit.edu 37 1 47504382 47504382 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:47504382G>A uc001cqt.2 + 7 1076 c.826G>A c.(826-828)GAT>AAT p.D276N CYP4X1_uc001cqr.2_Missense_Mutation_p.D275N|CYP4X1_uc001cqs.2_Missense_Mutation_p.D211N NM_178033 NP_828847 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, 276 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1)|skin(1) 2 GGTAAAGCAGGATAACACTCC 0.393 25 40 --- --- --- --- PASS SLC5A9 200010 broad.mit.edu 37 1 48703480 48703480 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:48703480C>T uc001cro.2 + 11 1474 c.1422C>T c.(1420-1422)CTC>CTT p.L474L SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Silent_p.L499L|SLC5A9_uc010omt.1_Silent_p.L488L|SLC5A9_uc001crp.2_Silent_p.L141L|SLC5A9_uc010omu.1_Silent_p.L141L|SLC5A9_uc009vyt.1_5'Flank NM_001011547 NP_001011547 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/glucose 474 Helical; (Potential). integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity ovary(3) 3 TCACCGCTCTCTTCCTGCTGG 0.502 15 19 --- --- --- --- PASS SLC5A9 200010 broad.mit.edu 37 1 48713068 48713068 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:48713068G>A uc001cro.2 + 14 1951 c.1899G>A c.(1897-1899)CCG>CCA p.P633P SLC5A9_uc001crn.2_Silent_p.P658P|SLC5A9_uc010omt.1_Silent_p.P647P|SLC5A9_uc001crp.2_Silent_p.P300P|SLC5A9_uc010omu.1_Silent_p.P300P|SLC5A9_uc009vyt.1_RNA NM_001011547 NP_001011547 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/glucose 633 Cytoplasmic (Potential). integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity ovary(3) 3 CTGGAACACCGGAGCAGGCCC 0.517 12 9 --- --- --- --- PASS ZFYVE9 9372 broad.mit.edu 37 1 52769498 52769498 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:52769498C>T uc001cto.2 + 13 3511 c.3339C>T c.(3337-3339)TTC>TTT p.F1113F ZFYVE9_uc001ctp.2_Silent_p.F1054F NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 1113 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 CCCAGGACTTCAGAAATTACC 0.353 18 40 --- --- --- --- PASS PODN 127435 broad.mit.edu 37 1 53544160 53544160 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:53544160G>A uc001cuv.2 + 8 1129 c.1122G>A c.(1120-1122)GCG>GCA p.A374A PODN_uc001cuw.2_Silent_p.A355A|PODN_uc010onr.1_Silent_p.A355A|PODN_uc010ons.1_Silent_p.A232A NM_153703 NP_714914 Q7Z5L7 PODN_HUMAN podocan 326 LRR 10. negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding ovary(1)|pancreas(1) 2 GCGTGGACGCGAATGTGCTGA 0.612 4 23 --- --- --- --- PASS PODN 127435 broad.mit.edu 37 1 53547779 53547779 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:53547779G>A uc001cuv.2 + 10 1939 c.1932G>A c.(1930-1932)GGG>GGA p.G644G PODN_uc001cuw.2_Silent_p.G625G|PODN_uc010onr.1_Silent_p.G625G|PODN_uc010ons.1_Silent_p.G502G NM_153703 NP_714914 Q7Z5L7 PODN_HUMAN podocan 596 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding ovary(1)|pancreas(1) 2 GCCGCTTggggaaggaaaagg 0.398 6 12 --- --- --- --- PASS C1orf83 127428 broad.mit.edu 37 1 54534537 54534537 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:54534537C>T uc001cwt.1 + 3 411 c.211C>T c.(211-213)CCC>TCC p.P71S C1orf83_uc001cwu.1_Intron NM_153035 NP_694580 Q96MN5 TEAN2_HUMAN hypothetical protein LOC127428 71 TFIIS N-terminal. transcription, DNA-dependent nucleus DNA binding 0 GAAGAAAATACCCTCCAGGGA 0.333 4 29 --- --- --- --- PASS MRPL37 51253 broad.mit.edu 37 1 54670798 54670798 + Missense_Mutation SNP G A A rs112294124 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:54670798G>A uc001cxa.3 + 2 531 c.454G>A c.(454-456)GAG>AAG p.E152K MRPL37_uc009vzp.2_Intron|MRPL37_uc001cxb.1_Missense_Mutation_p.E152K|MRPL37_uc001cxc.3_5'UTR|MRPL37_uc010oob.1_RNA NM_016491 NP_057575 Q9BZE1 RM37_HUMAN mitochondrial ribosomal protein L37 precursor 152 translation mitochondrial ribosome structural constituent of ribosome 0 GAACCAAGACGAGTGCGTTCT 0.507 30 39 --- --- --- --- PASS C1orf175 374977 broad.mit.edu 37 1 55145664 55145664 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:55145664C>T uc010ooe.1 + 13 2651 c.2327C>T c.(2326-2328)TCC>TTC p.S776F C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Missense_Mutation_p.S344F|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.S294F|C1orf175_uc010oof.1_Intron|C1orf175_uc001cxr.1_Intron|C1orf175_uc010oog.1_Missense_Mutation_p.S776F|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_5'Flank NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN hypothetical protein LOC374977 776 Helical; (Potential). integral to membrane binding 0 CTGGCTAGCTCCTTCATGACC 0.602 15 77 --- --- --- --- PASS PPAP2B 8613 broad.mit.edu 37 1 56962296 56962296 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:56962296G>A uc001cyj.1 - 7 1364 c.863C>T c.(862-864)GCC>GTC p.A288V NM_177414 NP_803133 O14495 LPP3_HUMAN phosphatidic acid phosphatase type 2B 288 Cytoplasmic (Potential). canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process adherens junction|Golgi apparatus|integral to membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity 0 GATAGCAGGGGCAGGCAGGGA 0.493 15 25 --- --- --- --- PASS C1orf87 127795 broad.mit.edu 37 1 60499186 60499186 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:60499186C>T uc001czs.1 - 7 1083 c.991G>A c.(991-993)GAA>AAA p.E331K NM_152377 NP_689590 Q8N0U7 CA087_HUMAN hypothetical protein LOC127795 331 calcium ion binding ovary(1)|breast(1) 2 GAGCGATCTTCTTTTCGAAAA 0.443 18 41 --- --- --- --- PASS INADL 10207 broad.mit.edu 37 1 62545165 62545165 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:62545165C>T uc001dab.2 + 32 4283 c.4169C>T c.(4168-4170)TCC>TTC p.S1390F INADL_uc009waf.1_Missense_Mutation_p.S1390F|INADL_uc001daa.2_Missense_Mutation_p.S1390F|INADL_uc001dad.3_Missense_Mutation_p.S1087F|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Missense_Mutation_p.S174F|INADL_uc009wag.2_Missense_Mutation_p.S174F|INADL_uc010oou.1_Missense_Mutation_p.S63F|hsa-mir-3116-2|MI0014129_5'Flank NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 1390 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 ACAAAAGTCTCCTTCAGTTCA 0.373 39 51 --- --- --- --- PASS INADL 10207 broad.mit.edu 37 1 62550229 62550229 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:62550229C>T uc001dab.2 + 33 4400 c.4286C>T c.(4285-4287)CCC>CTC p.P1429L INADL_uc009waf.1_Missense_Mutation_p.P1429L|INADL_uc001daa.2_Missense_Mutation_p.P1429L|INADL_uc001dad.3_Missense_Mutation_p.P1126L|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Missense_Mutation_p.P213L|INADL_uc009wag.2_Missense_Mutation_p.P213L|INADL_uc010oou.1_Missense_Mutation_p.P102L NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 1429 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 GCAACGTGTCCCATTGTCCCT 0.507 21 20 --- --- --- --- PASS KANK4 163782 broad.mit.edu 37 1 62747221 62747221 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:62747221C>T uc001dah.3 - 2 393 c.16G>A c.(16-18)GCC>ACC p.A6T KANK4_uc001dai.3_Missense_Mutation_p.E6K NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN ankyrin repeat domain 38 6 ovary(3)|skin(2)|lung(1) 6 GCTTGCCTACCATCTGTCTTC 0.478 63 80 --- --- --- --- PASS DOCK7 85440 broad.mit.edu 37 1 62943401 62943401 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:62943401G>A uc001daq.2 - 43 5605 c.5571C>T c.(5569-5571)ACC>ACT p.T1857T DOCK7_uc001dan.2_Silent_p.T1720T|DOCK7_uc001dao.2_Silent_p.T1718T|DOCK7_uc001dap.2_Silent_p.T1837T|DOCK7_uc001dam.2_Silent_p.T1039T|DOCK7_uc010oov.1_Silent_p.T598T|DOCK7_uc001dar.1_Silent_p.T31T NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1868 DHR-2. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 CTGCAAGTTTGGTTATTGCAG 0.388 36 64 --- --- --- --- PASS DOCK7 85440 broad.mit.edu 37 1 63113907 63113907 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:63113907G>A uc001daq.2 - 6 636 c.602C>T c.(601-603)TCA>TTA p.S201L DOCK7_uc001dan.2_Missense_Mutation_p.S93L|DOCK7_uc001dao.2_Missense_Mutation_p.S93L|DOCK7_uc001dap.2_Missense_Mutation_p.S201L|DOCK7_uc009wah.1_Missense_Mutation_p.S201L NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 201 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 ATCAGGAAGTGAATTTTTCAA 0.393 23 40 --- --- --- --- PASS ITGB3BP 23421 broad.mit.edu 37 1 63920139 63920139 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:63920139C>T uc001dba.1 - 6 370 c.339G>A c.(337-339)TTG>TTA p.L113L ITGB3BP_uc001dbb.1_Silent_p.L152L|ITGB3BP_uc001dbc.1_RNA|ITGB3BP_uc001dbd.1_RNA|ITGB3BP_uc009wak.1_Silent_p.L135L|ITGB3BP_uc001dbe.1_Silent_p.L26L NM_014288 NP_055103 Q13352 CENPR_HUMAN integrin beta 3 binding protein 113 Potential. apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm protein C-terminus binding|signal transducer activity 0 TACTGCCCTCCAAAGCCTACA 0.343 15 21 --- --- --- --- PASS CACHD1 57685 broad.mit.edu 37 1 65131840 65131840 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:65131840C>T uc001dbo.1 + 16 2329 c.2224C>T c.(2224-2226)CAT>TAT p.H742Y CACHD1_uc001dbp.1_Missense_Mutation_p.H497Y|CACHD1_uc001dbq.1_Missense_Mutation_p.H497Y|CACHD1_uc010opa.1_5'UTR NM_020925 NP_065976 Q5VU97 CAHD1_HUMAN cache domain containing 1 793 Extracellular (Potential).|Cache 2. calcium ion transport integral to membrane ovary(2) 2 TCACACAATTCATTCATCCAG 0.328 12 25 --- --- --- --- PASS JAK1 3716 broad.mit.edu 37 1 65310570 65310570 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:65310570C>T uc001dbu.1 - 16 2367 c.2118G>A c.(2116-2118)GAG>GAA p.E706E JAK1_uc009wam.1_Silent_p.E694E|JAK1_uc009wal.1_5'UTR NM_002227 NP_002218 P23458 JAK1_HUMAN janus kinase 1 706 Protein kinase 1. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1) 61 BRCA - Breast invasive adenocarcinoma(111;0.0485) GGTCTTTATCCTCCTGCAGAG 0.507 Mis ALL 5 36 --- --- --- --- PASS WDR78 79819 broad.mit.edu 37 1 67292639 67292639 + Nonsense_Mutation SNP C A A rs145334513 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:67292639C>A uc001dcx.2 - 15 2259 c.2203G>T c.(2203-2205)GAG>TAG p.E735* WDR78_uc009waw.2_Nonsense_Mutation_p.E448*|WDR78_uc009wax.2_RNA NM_024763 NP_079039 Q5VTH9 WDR78_HUMAN WD repeat domain 78 isoform 1 735 WD 4. ovary(2) 2 TTGACATTCTCCTGTTGCCAT 0.378 27 85 --- --- --- --- PASS IL12RB2 3595 broad.mit.edu 37 1 67792445 67792445 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:67792445C>T uc001ddu.2 + 4 1032 c.392C>T c.(391-393)TCC>TTC p.S131F IL12RB2_uc010oqi.1_Missense_Mutation_p.S131F|IL12RB2_uc010oqj.1_Missense_Mutation_p.S131F|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.S131F|IL12RB2_uc010oqm.1_Missense_Mutation_p.S131F|IL12RB2_uc010oqn.1_RNA NM_001559 NP_001550 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 precursor 131 Extracellular (Potential).|Fibronectin type-III 1. positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity ovary(2)|central_nervous_system(1) 3 CAAAATTTATCCTGCATACAG 0.428 5 9 --- --- --- --- PASS IL12RB2 3595 broad.mit.edu 37 1 67833507 67833507 + Splice_Site SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:67833507G>A uc001ddu.2 + 10 1899 c.1259_splice c.e10-1 p.G420_splice IL12RB2_uc010oqi.1_Splice_Site_p.G420_splice|IL12RB2_uc010oqj.1_Splice_Site_p.G420_splice|IL12RB2_uc010oqk.1_Splice_Site|IL12RB2_uc010oql.1_Splice_Site_p.G420_splice|IL12RB2_uc010oqm.1_Splice_Site_p.G420_splice|IL12RB2_uc010oqn.1_Splice_Site NM_001559 NP_001550 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 precursor positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity ovary(2)|central_nervous_system(1) 3 GTCCGATAAAGGGTTGCTGGC 0.443 24 75 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70505069 70505069 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:70505069G>A uc001dep.2 + 19 3478 c.3448G>A c.(3448-3450)GGA>AGA p.G1150R LRRC7_uc009wbg.2_Missense_Mutation_p.G434R|LRRC7_uc001deq.2_Missense_Mutation_p.G391R NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1150 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 CCCATATAGGGGAGGGCTGGA 0.522 18 29 --- --- --- --- PASS NEGR1 257194 broad.mit.edu 37 1 72076747 72076747 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:72076747C>T uc001dfw.2 - 5 850 c.750G>A c.(748-750)GTG>GTA p.V250V NEGR1_uc001dfv.2_Silent_p.V122V|NEGR1_uc010oqs.1_Silent_p.V206V NM_173808 NP_776169 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 precursor 250 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane ovary(1) 1 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) CTGGAGGCGGCACACCTGCAC 0.463 11 49 --- --- --- --- PASS LRRIQ3 127255 broad.mit.edu 37 1 74492584 74492584 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:74492584G>A uc001dfy.3 - 8 1980 c.1788C>T c.(1786-1788)GCC>GCT p.A596A LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 596 Potential. ovary(2) 2 GTCTTTCACAGGCTTTTTCAA 0.303 9 16 --- --- --- --- PASS FPGT 8790 broad.mit.edu 37 1 74670360 74670360 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:74670360C>T uc001dgb.1 + 4 666 c.629C>T c.(628-630)CCT>CTT p.P210L TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron NM_003838 NP_003829 O14772 FPGT_HUMAN fucose-1-phosphate guanyltransferase 210 fucose metabolic process cytoplasm fucose-1-phosphate guanylyltransferase activity|GTP binding skin(1) 1 GTCTTAGATCCTTTTGATGAT 0.373 11 43 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75072544 75072544 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:75072544C>T uc001dgg.2 - 10 1449 c.1230G>A c.(1228-1230)CCG>CCA p.P410P uc001dgh.2_Intron|C1orf173_uc001dgi.3_Silent_p.P204P NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 410 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TCCTAGATTTCGGCAAAGACG 0.413 12 63 --- --- --- --- PASS MSH4 4438 broad.mit.edu 37 1 76344772 76344772 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:76344772A>T uc001dhd.1 + 12 1677 c.1636A>T c.(1636-1638)ATA>TTA p.I546L NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 546 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 TACAGATTGTATAGCCCTACC 0.338 MMR 14 29 --- --- --- --- PASS MSH4 4438 broad.mit.edu 37 1 76365359 76365359 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:76365359G>A uc001dhd.1 + 19 2628 c.2587G>A c.(2587-2589)GAA>AAA p.E863K NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 863 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 GGATGCCAAGGAAATCACAAC 0.294 MMR 16 37 --- --- --- --- PASS ST6GALNAC3 256435 broad.mit.edu 37 1 76877855 76877855 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:76877855C>T uc001dhh.2 + 3 539 c.376C>T c.(376-378)CGA>TGA p.R126* ST6GALNAC3_uc001dhg.3_Nonsense_Mutation_p.R126*|ST6GALNAC3_uc010orh.1_Nonsense_Mutation_p.R61* NM_152996 NP_694541 Q8NDV1 SIA7C_HUMAN sialyltransferase 7C isoform 1 126 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity ovary(3)|skin(2) 5 GACCATGATTCGAGTTGTGTC 0.433 18 44 --- --- --- --- PASS ST6GALNAC3 256435 broad.mit.edu 37 1 76877969 76877969 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:76877969G>A uc001dhh.2 + 3 653 c.490G>A c.(490-492)GAT>AAT p.D164N ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.D164N|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.D99N NM_152996 NP_694541 Q8NDV1 SIA7C_HUMAN sialyltransferase 7C isoform 1 164 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity ovary(3)|skin(2) 5 TATGAGGAAAGATGGCAATGG 0.393 20 61 --- --- --- --- PASS USP33 23032 broad.mit.edu 37 1 78184286 78184286 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:78184286G>A uc001dht.2 - 17 2172 c.1825C>T c.(1825-1827)CCT>TCT p.P609S USP33_uc001dhs.2_Missense_Mutation_p.P330S|USP33_uc001dhu.2_Missense_Mutation_p.P578S|USP33_uc001dhv.2_Missense_Mutation_p.P414S|USP33_uc001dhw.2_Missense_Mutation_p.P601S NM_015017 NP_055832 Q8TEY7 UBP33_HUMAN ubiquitin specific protease 33 isoform 1 609 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(2)|ovary(1) 3 CATACCTCAGGAAAGTTTTGT 0.284 9 20 --- --- --- --- PASS IFI44L 10964 broad.mit.edu 37 1 79107150 79107150 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:79107150C>T uc010oro.1 + 8 1359 c.1180C>T c.(1180-1182)CCT>TCT p.P394S IFI44L_uc010orp.1_Missense_Mutation_p.P131S|IFI44L_uc010orq.1_Missense_Mutation_p.P131S NM_006820 NP_006811 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 394 cytoplasm 0 GCTAGGCATTCCTATTTCCAA 0.353 13 41 --- --- --- --- PASS IFI44 10561 broad.mit.edu 37 1 79128453 79128453 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:79128453C>T uc001dip.3 + 8 1302 c.1178C>T c.(1177-1179)TCC>TTC p.S393F NM_006417 NP_006408 Q8TCB0 IFI44_HUMAN interferon-induced, hepatitis C-associated 393 response to virus cytoplasm ovary(1)|central_nervous_system(1) 2 AGCAATTATTCCTCTGAGTGG 0.413 18 29 --- --- --- --- PASS ELTD1 64123 broad.mit.edu 37 1 79470895 79470895 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:79470895G>A uc001diq.3 - 2 188 c.32C>T c.(31-33)TCC>TTC p.S11F NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 11 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) CAACAAAGTGGAAAAAACCAC 0.323 12 10 --- --- --- --- PASS DNASE2B 58511 broad.mit.edu 37 1 84880230 84880230 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:84880230G>A uc001djt.1 + 6 798 c.765G>A c.(763-765)ATG>ATA p.M255I DNASE2B_uc001dju.1_Missense_Mutation_p.M47I|DNASE2B_uc009wch.1_Missense_Mutation_p.M47I NM_021233 NP_067056 Q8WZ79 DNS2B_HUMAN deoxyribonuclease II beta isoform 1 precursor 255 DNA metabolic process lysosome deoxyribonuclease II activity 0 all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808) CAGCCTGGATGGCTCAACGGC 0.418 Direct_reversal_of_damage 7 30 --- --- --- --- PASS DNASE2B 58511 broad.mit.edu 37 1 84880305 84880305 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:84880305C>T uc001djt.1 + 6 873 c.840C>T c.(838-840)TCC>TCT p.S280S DNASE2B_uc001dju.1_Silent_p.S72S|DNASE2B_uc009wch.1_Silent_p.S72S NM_021233 NP_067056 Q8WZ79 DNS2B_HUMAN deoxyribonuclease II beta isoform 1 precursor 280 DNA metabolic process lysosome deoxyribonuclease II activity 0 all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808) CAAACTGCTCCCTTCCTTACC 0.418 Direct_reversal_of_damage 12 33 --- --- --- --- PASS CTBS 1486 broad.mit.edu 37 1 85029067 85029067 + Missense_Mutation SNP C A A rs148118320 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:85029067C>A uc001dka.2 - 6 895 c.830G>T c.(829-831)CGG>CTG p.R277L SPATA1_uc001djz.1_Intron|CTBS_uc001dkc.2_Missense_Mutation_p.R186L|CTBS_uc001dkd.2_Missense_Mutation_p.R71L|CTBS_uc001dkb.2_Missense_Mutation_p.R71L NM_004388 NP_004379 Q01459 DIAC_HUMAN chitobiase, di-N-acetyl- precursor 277 lysosome cation binding 0 all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166) AGGAGCCCCCCGGAAAGGGAC 0.388 3 29 --- --- --- --- PASS MCOLN3 55283 broad.mit.edu 37 1 85486956 85486956 + Missense_Mutation SNP G A A rs139077973 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:85486956G>A uc001dkp.2 - 12 1417 c.1324C>T c.(1324-1326)CGT>TGT p.R442C MCOLN3_uc001dko.2_Missense_Mutation_p.R61C|MCOLN3_uc001dkq.2_Missense_Mutation_p.R386C NM_018298 NP_060768 Q8TDD5 MCLN3_HUMAN mucolipin 3 442 integral to membrane ion channel activity skin(1) 1 all cancers(265;0.00957)|Epithelial(280;0.0254) TTCAGAGAACGAAACTGGAAA 0.368 17 36 --- --- --- --- PASS COL24A1 255631 broad.mit.edu 37 1 86590982 86590982 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:86590982T>A uc001dlj.2 - 3 1079 c.1037A>T c.(1036-1038)AAT>ATT p.N346I COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.N346I NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 346 cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) CAGGCTGAAATTTGTCTGAGT 0.413 20 33 --- --- --- --- PASS HFM1 164045 broad.mit.edu 37 1 91843989 91843989 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:91843989G>A uc001doa.3 - 10 1307 c.1207C>T c.(1207-1209)CAG>TAG p.Q403* HFM1_uc010osu.1_Nonsense_Mutation_p.Q82*|HFM1_uc010osv.1_Nonsense_Mutation_p.Q87*|HFM1_uc001doc.1_Nonsense_Mutation_p.Q403* NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 403 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) CGAACCAGCTGAACCAAAGAG 0.328 17 48 --- --- --- --- PASS TGFBR3 7049 broad.mit.edu 37 1 92185653 92185653 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:92185653G>A uc001doh.2 - 9 1676 c.1210C>T c.(1210-1212)CCT>TCT p.P404S TGFBR3_uc009wde.2_Missense_Mutation_p.P181S|TGFBR3_uc010osy.1_Missense_Mutation_p.P362S|TGFBR3_uc001doi.2_Missense_Mutation_p.P403S|TGFBR3_uc001doj.2_Missense_Mutation_p.P403S NM_003243 NP_003234 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 404 Extracellular (Potential). BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding ovary(3) 3 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) TCTGGGAAAGGAAACGGAAGG 0.587 19 17 --- --- --- --- PASS BRDT 676 broad.mit.edu 37 1 92442942 92442942 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:92442942A>G uc001dok.3 + 6 1310 c.961A>G c.(961-963)ACT>GCT p.T321A BRDT_uc001dol.3_Missense_Mutation_p.T321A|BRDT_uc010osz.1_Missense_Mutation_p.T325A|BRDT_uc009wdf.2_Missense_Mutation_p.T248A|BRDT_uc010ota.1_Missense_Mutation_p.T275A|BRDT_uc010otb.1_Missense_Mutation_p.T275A|BRDT_uc001dom.3_Missense_Mutation_p.T321A NM_207189 NP_997072 Q58F21 BRDT_HUMAN testis-specific bromodomain protein 321 Bromo 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity stomach(2)|ovary(1)|lung(1) 4 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) GGATCTTGGAACTATTAAGGT 0.244 20 35 --- --- --- --- PASS EPHX4 253152 broad.mit.edu 37 1 92498145 92498145 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:92498145C>T uc001don.2 + 2 419 c.315C>T c.(313-315)TTC>TTT p.F105F NM_173567 NP_775838 Q8IUS5 EPHX4_HUMAN abhydrolase domain containing 7 105 integral to membrane hydrolase activity central_nervous_system(1) 1 TTCCAGAATTCTGGTAAGCTT 0.289 17 33 --- --- --- --- PASS EVI5 7813 broad.mit.edu 37 1 92979373 92979373 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:92979373G>A uc001dox.2 - 18 2283 c.2273C>T c.(2272-2274)CCT>CTT p.P758L EVI5_uc010otf.1_Missense_Mutation_p.P769L NM_005665 NP_005656 O60447 EVI5_HUMAN ecotropic viral integration site 5 758 Targeting to the centrosomes.|Interaction with AURKB and INCENP. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity ovary(1)|breast(1) 2 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) TCCGTGCAAAGGAAAACCAAC 0.438 28 34 --- --- --- --- PASS CCDC18 343099 broad.mit.edu 37 1 93724345 93724345 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:93724345C>T uc001dpq.2 + 26 4109 c.3941C>T c.(3940-3942)TCT>TTT p.S1314F CCDC18_uc001dpr.1_Missense_Mutation_p.S109F NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 1195 Potential. ovary(2)|breast(2)|pancreas(1) 5 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) CTGGGGGCTTCTAAAGTACGT 0.343 22 31 --- --- --- --- PASS DPYD 1806 broad.mit.edu 37 1 97547898 97547898 + Silent SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:97547898A>G uc001drv.2 - 22 3032 c.2895T>C c.(2893-2895)GAT>GAC p.D965D NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 965 4Fe-4S ferredoxin-type 2. 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GGTAGCCAGAATCATTACAGG 0.383 29 57 --- --- --- --- PASS DPYD 1806 broad.mit.edu 37 1 98015267 98015267 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:98015267C>T uc001drv.2 - 12 1510 c.1373G>A c.(1372-1374)AGA>AAA p.R458K NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 458 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GAGACCCCATCTGTTAAATTT 0.373 8 23 --- --- --- --- PASS DPYD 1806 broad.mit.edu 37 1 98058779 98058779 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:98058779C>T uc001drv.2 - 10 1260 c.1123G>A c.(1123-1125)GAG>AAG p.E375K NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 375 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TTTACCTCCTCAGGGACAGCT 0.403 29 34 --- --- --- --- PASS SNX7 51375 broad.mit.edu 37 1 99150492 99150492 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:99150492C>T uc010ouc.1 + 2 284 c.232C>T c.(232-234)CCT>TCT p.P78S SNX7_uc001dsa.2_Missense_Mutation_p.P14S|SNX7_uc010oud.1_Missense_Mutation_p.P78S NM_015976 NP_057060 Q9UNH6 SNX7_HUMAN sorting nexin 7 isoform a 14 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) GCCAACATCCCCTTTATCAAT 0.338 13 25 --- --- --- --- PASS PALMD 54873 broad.mit.edu 37 1 100111912 100111912 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:100111912C>T uc001dsg.2 + 1 482 c.39C>T c.(37-39)GCC>GCT p.A13A PALMD_uc001dsf.2_Silent_p.A13A NM_017734 NP_060204 Q9NP74 PALMD_HUMAN palmdelphin 13 Potential. regulation of cell shape cytoplasm|membrane ovary(2)|pancreas(1) 3 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) GACTCCAGGCCATCACAGTAA 0.517 24 34 --- --- --- --- PASS SASS6 163786 broad.mit.edu 37 1 100587028 100587028 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:100587028G>A uc001dsu.2 - 5 530 c.389C>T c.(388-390)CCT>CTT p.P130L SASS6_uc009wdz.2_5'UTR NM_194292 NP_919268 Q6UVJ0 SAS6_HUMAN spindle assembly abnormal protein 6 130 centriole replication centriole upper_aerodigestive_tract(1)|ovary(1) 2 all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197) ATGCTTAAAAGGATTTGTCTC 0.348 7 17 --- --- --- --- PASS OLFM3 118427 broad.mit.edu 37 1 102270080 102270080 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:102270080C>T uc001duf.2 - 6 1222 c.1151G>A c.(1150-1152)AGC>AAC p.S384N OLFM3_uc001dug.2_Missense_Mutation_p.S364N|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.S289N|OLFM3_uc001due.2_RNA NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 384 Olfactomedin-like. extracellular region ovary(2)|skin(1) 3 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) AGTGCTCCAGCTCTTCATCAC 0.488 5 31 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103400031 103400031 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:103400031C>T uc001dul.2 - 46 3892 c.3574G>A c.(3574-3576)GGA>AGA p.G1192R COL11A1_uc001duk.2_Missense_Mutation_p.G388R|COL11A1_uc001dum.2_Missense_Mutation_p.G1204R|COL11A1_uc001dun.2_Missense_Mutation_p.G1153R|COL11A1_uc009weh.2_Missense_Mutation_p.G1076R NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1192 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CCAGGAGGTCCAGGGAAGCCT 0.483 6 20 --- --- --- --- PASS AMY1A 276 broad.mit.edu 37 1 104297236 104297236 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:104297236G>A uc001duy.2 + 7 1208 c.994G>A c.(994-996)GAT>AAT p.D332N AMY1A_uc001duz.2_Missense_Mutation_p.D332N NM_001008221 NP_001008222 P04745 AMY1_HUMAN salivary amylase alpha 1A precursor 332 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding|protein binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) TACCTTCTGGGATGCTAGGTA 0.383 32 587 --- --- --- --- PASS CELSR2 1952 broad.mit.edu 37 1 109793891 109793891 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:109793891C>T uc001dxa.3 + 1 1251 c.1190C>T c.(1189-1191)CCC>CTC p.P397L NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 397 Cadherin 2.|Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GATAATGCCCCCCAGTTTAGT 0.592 9 28 --- --- --- --- PASS FAM40A 85369 broad.mit.edu 37 1 110589365 110589365 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:110589365C>T uc001dza.1 + 13 1499 c.1480C>T c.(1480-1482)CTC>TTC p.L494F FAM40A_uc001dyz.1_Missense_Mutation_p.L399F|FAM40A_uc009wfp.1_Missense_Mutation_p.L318F NM_033088 NP_149079 Q5VSL9 FA40A_HUMAN hypothetical protein LOC85369 494 nucleus protein binding ovary(3)|large_intestine(1) 4 all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137) CCGCTCCCCTCTCTCAGGGGT 0.358 20 69 --- --- --- --- PASS SLC6A17 388662 broad.mit.edu 37 1 110717573 110717573 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:110717573C>T uc009wfq.2 + 5 1205 c.744C>T c.(742-744)TCC>TCT p.S248S NM_001010898 NP_001010898 Q9H1V8 S6A17_HUMAN solute carrier family 6, member 17 248 Cytoplasmic (Potential). alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity ovary(1)|pancreas(1) 2 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) GCATCCAGTCCTCGGGGAAGG 0.612 6 20 --- --- --- --- PASS CD53 963 broad.mit.edu 37 1 111439345 111439345 + Missense_Mutation SNP G A A rs150734121 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:111439345G>A uc001dzw.2 + 7 665 c.494G>A c.(493-495)CGA>CAA p.R165Q CD53_uc001dzx.2_Missense_Mutation_p.R165Q|CD53_uc010owa.1_Intron|CD53_uc001dzy.2_Intron NM_001040033 NP_001035122 P19397 CD53_HUMAN CD53 antigen 165 Extracellular (Potential). signal transduction integral to membrane|plasma membrane 0 all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144) CCCTCAGATCGAAAAGTGGAG 0.443 22 50 --- --- --- --- PASS CD53 963 broad.mit.edu 37 1 111440442 111440442 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:111440442G>A uc001dzw.2 + 8 687 c.516G>A c.(514-516)GCG>GCA p.A172A CD53_uc001dzx.2_Silent_p.A172A|CD53_uc010owa.1_Silent_p.A113A|CD53_uc001dzy.2_Intron NM_001040033 NP_001035122 P19397 CD53_HUMAN CD53 antigen 172 Extracellular (Potential). signal transduction integral to membrane|plasma membrane 0 all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144) GTTGCTATGCGAAAGCAAGAC 0.328 15 35 --- --- --- --- PASS C1orf103 55791 broad.mit.edu 37 1 111490704 111490704 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:111490704G>A uc001eaa.2 - 4 2443 c.2187C>T c.(2185-2187)TTC>TTT p.F729F C1orf103_uc001dzz.2_Silent_p.F193F|C1orf103_uc001eab.2_Silent_p.F193F|C1orf103_uc001eac.1_Silent_p.F192F NM_018372 NP_060842 Q5T3J3 LRIF1_HUMAN receptor-interacting factor 1 isoform 1 729 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding 0 all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451) Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134) GTGTCACTGGGAAAATATCTT 0.368 18 62 --- --- --- --- PASS CHIA 27159 broad.mit.edu 37 1 111860303 111860303 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:111860303G>A uc001eas.2 + 7 584 c.481G>A c.(481-483)GAA>AAA p.E161K CHIA_uc001ear.2_Missense_Mutation_p.E53K|CHIA_uc001eaq.2_Missense_Mutation_p.E53K|CHIA_uc009wgc.2_Missense_Mutation_p.E53K|CHIA_uc001eat.2_5'UTR|CHIA_uc001eav.2_5'UTR|CHIA_uc001eau.2_5'UTR|CHIA_uc009wgd.2_5'UTR NM_201653 NP_970615 Q9BZP6 CHIA_HUMAN acidic chitinase isoform c 161 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding ovary(1) 1 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) TATTCTGTAGGAAATGCGTGA 0.358 10 45 --- --- --- --- PASS MOV10 4343 broad.mit.edu 37 1 113238187 113238187 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:113238187G>A uc001eck.2 + 11 2040 c.1770G>A c.(1768-1770)GAG>GAA p.E590E MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Silent_p.E590E|MOV10_uc001ecm.2_Silent_p.E530E|MOV10_uc009wgj.1_Silent_p.E530E NM_001130079 NP_001123551 Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog 590 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding ovary(4)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) TGGTACCTGAGGACATCAAGG 0.542 12 17 --- --- --- --- PASS MOV10 4343 broad.mit.edu 37 1 113238188 113238188 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:113238188G>A uc001eck.2 + 11 2041 c.1771G>A c.(1771-1773)GAC>AAC p.D591N MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.D591N|MOV10_uc001ecm.2_Missense_Mutation_p.D531N|MOV10_uc009wgj.1_Missense_Mutation_p.D531N NM_001130079 NP_001123551 Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog 591 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding ovary(4)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) GGTACCTGAGGACATCAAGGT 0.542 12 17 --- --- --- --- PASS DCLRE1B 64858 broad.mit.edu 37 1 114454061 114454061 + Missense_Mutation SNP C T T rs145569979 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:114454061C>T uc001eeg.2 + 4 1018 c.847C>T c.(847-849)CGT>TGT p.R283C DCLRE1B_uc001eeh.2_Missense_Mutation_p.R157C|DCLRE1B_uc001eei.2_Missense_Mutation_p.R157C NM_022836 NP_073747 Q9H816 DCR1B_HUMAN DNA cross-link repair 1B (PSO2 homolog, S. 283 cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding 0 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTCCGAGCTTCGTGCCTTTGT 0.562 Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 16 50 --- --- --- --- PASS HIPK1 204851 broad.mit.edu 37 1 114515898 114515898 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:114515898T>A uc001eem.2 + 16 3558 c.3397T>A c.(3397-3399)TTC>ATC p.F1133I HIPK1_uc001een.2_Missense_Mutation_p.F1133I|HIPK1_uc001eeo.2_Missense_Mutation_p.F759I|HIPK1_uc001eep.2_Missense_Mutation_p.F739I|HIPK1_uc001eeq.2_Missense_Mutation_p.F425I NM_198268 NP_938009 Q86Z02 HIPK1_HUMAN homeodomain-interacting protein kinase 1 isoform 1133 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity ovary(4) 4 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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) TGCTCATCTTTTCTCCCCACA 0.597 46 72 --- --- --- --- PASS DENND2C 163259 broad.mit.edu 37 1 115137115 115137115 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:115137115G>A uc001efd.1 - 18 3112 c.2410C>T c.(2410-2412)CAG>TAG p.Q804* DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Nonsense_Mutation_p.Q747* NM_198459 NP_940861 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 804 skin(3) 3 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTCTGCTCCTGAGTCAAGATT 0.373 17 48 --- --- --- --- PASS VANGL1 81839 broad.mit.edu 37 1 116226635 116226635 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:116226635C>T uc001efv.1 + 6 1288 c.1017C>T c.(1015-1017)AGC>AGT p.S339S VANGL1_uc009wgy.1_Silent_p.S337S NM_138959 NP_620409 Q8TAA9 VANG1_HUMAN vang-like 1 339 Cytoplasmic (Potential). multicellular organismal development integral to membrane protein binding central_nervous_system(1) 1 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) GGGACTCAAGCCACAACGAGT 0.537 16 22 --- --- --- --- PASS TRIM45 80263 broad.mit.edu 37 1 117663382 117663382 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:117663382G>T uc001egz.2 - 1 1030 c.442C>A c.(442-444)CAG>AAG p.Q148K TRIM45_uc009whe.2_Missense_Mutation_p.Q148K|TRIM45_uc001eha.2_Missense_Mutation_p.Q44K NM_025188 NP_079464 Q9H8W5 TRI45_HUMAN tripartite motif-containing 45 isoform 1 148 B box-type 1. cytoplasm|nucleus zinc ion binding central_nervous_system(1) 1 Lung SC(450;0.225) all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389) Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187) TTGCAGGTCTGACACCTCTTC 0.547 8 31 --- --- --- --- PASS WDR3 10885 broad.mit.edu 37 1 118483498 118483498 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:118483498C>T uc010oxe.1 + 7 790 c.724C>T c.(724-726)CCT>TCT p.P242S WDR3_uc001ehi.2_Intron|WDR3_uc001ehh.2_Missense_Mutation_p.P71S NM_006784 NP_006775 Q9UNX4 WDR3_HUMAN WD repeat-containing protein 3 242 nuclear membrane|nucleolus upper_aerodigestive_tract(1) 1 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) AGGATCTTCTCCTGGAATACA 0.388 52 113 --- --- --- --- PASS WDR3 10885 broad.mit.edu 37 1 118483499 118483499 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:118483499C>T uc010oxe.1 + 7 791 c.725C>T c.(724-726)CCT>CTT p.P242L WDR3_uc001ehi.2_Intron|WDR3_uc001ehh.2_Missense_Mutation_p.P71L NM_006784 NP_006775 Q9UNX4 WDR3_HUMAN WD repeat-containing protein 3 242 nuclear membrane|nucleolus upper_aerodigestive_tract(1) 1 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) GGATCTTCTCCTGGAATACAA 0.388 50 114 --- --- --- --- PASS SPAG17 200162 broad.mit.edu 37 1 118538995 118538995 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:118538995G>A uc001ehk.2 - 34 5119 c.5051C>T c.(5050-5052)CCA>CTA p.P1684L NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1684 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TCCTCTACCTGGCTGTTCCTG 0.428 26 74 --- --- --- --- PASS SPAG17 200162 broad.mit.edu 37 1 118548057 118548057 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:118548057G>A uc001ehk.2 - 32 4824 c.4756C>T c.(4756-4758)CCT>TCT p.P1586S NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1586 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TTTCCCTCAGGATCCAGAACC 0.438 32 57 --- --- --- --- PASS SPAG17 200162 broad.mit.edu 37 1 118574470 118574470 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:118574470C>T uc001ehk.2 - 25 3522 c.3454G>A c.(3454-3456)GAA>AAA p.E1152K NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1152 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) AATATTGTTTCTAAATCAGGA 0.328 9 44 --- --- --- --- PASS SPAG17 200162 broad.mit.edu 37 1 118581951 118581951 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:118581951C>T uc001ehk.2 - 23 3351 c.3283G>A c.(3283-3285)GAA>AAA p.E1095K NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1095 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CCTTCTTCTTCCTCTTCTAAA 0.388 15 27 --- --- --- --- PASS HSD3B1 3283 broad.mit.edu 37 1 120056657 120056657 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:120056657G>A uc001ehv.1 + 4 656 c.511G>A c.(511-513)GGG>AGG p.G171R HSD3B1_uc001ehw.2_Missense_Mutation_p.G173R NM_000862 NP_000853 P14060 3BHS1_HUMAN 3 beta-hydroxysteroid dehydrogenase 1 171 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) GGCGGCTAACGGGTGGAATCT 0.507 36 42 --- --- --- --- PASS ADAM30 11085 broad.mit.edu 37 1 120437686 120437686 + Missense_Mutation SNP C T T rs145317971 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:120437686C>T uc001eij.2 - 1 1428 c.1274G>A c.(1273-1275)CGG>CAG p.R425Q NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 preproprotein 425 Disintegrin.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) TTGGCAACACCGATCTTTCTG 0.453 19 86 --- --- --- --- PASS NOTCH2 4853 broad.mit.edu 37 1 120510184 120510184 + Missense_Mutation SNP C G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:120510184C>G uc001eik.2 - 8 1581 c.1325G>C c.(1324-1326)TGT>TCT p.C442S NOTCH2_uc001eil.2_Missense_Mutation_p.C442S|NOTCH2_uc001eim.3_Missense_Mutation_p.C359S NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 442 Extracellular (Potential).|EGF-like 11; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CAGACACTCACAGTGGAAGGC 0.473 N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 19 55 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144952248 144952248 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:144952248G>A uc001elw.3 - 4 762 c.471C>T c.(469-471)GAC>GAT p.D157D NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.D223D|PDE4DIP_uc001emc.1_Silent_p.D157D|PDE4DIP_uc001emd.1_Silent_p.D157D|PDE4DIP_uc001emg.1_Silent_p.D157D|PDE4DIP_uc001emh.2_Silent_p.D294D NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 157 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GCTTGACCTGGTCTCCTGGTA 0.547 T PDGFRB MPD 4 63 --- --- --- --- PASS HFE2 148738 broad.mit.edu 37 1 145416841 145416841 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:145416841C>T uc001eni.2 + 4 1511 c.1186C>T c.(1186-1188)CTC>TTC p.L396F NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Missense_Mutation_p.L170F|HFE2_uc001enk.2_Missense_Mutation_p.L283F|HFE2_uc001enl.2_Missense_Mutation_p.L170F NM_213653 NP_998818 Q6ZVN8 RGMC_HUMAN hemojuvelin isoform a precursor 396 axon guidance anchored to membrane ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GAAGCTGCATCTCTTCCCCTC 0.517 16 24 --- --- --- --- PASS PIAS3 10401 broad.mit.edu 37 1 145579331 145579331 + Missense_Mutation SNP C T T rs140039049 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:145579331C>T uc001eoc.1 + 5 759 c.668C>T c.(667-669)CCG>CTG p.P223L NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_Missense_Mutation_p.P214L|PIAS3_uc001eod.1_5'Flank NM_006099 NP_006090 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 223 PINIT. positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TGCCCCCTGCCGGTAAATGCT 0.428 18 65 --- --- --- --- PASS FMO5 2330 broad.mit.edu 37 1 146658808 146658808 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:146658808G>T uc001epi.2 - 9 1662 c.1273C>A c.(1273-1275)CGC>AGC p.R425S FMO5_uc001eph.3_Intron|FMO5_uc001epj.2_3'UTR NM_001461 NP_001452 P49326 FMO5_HUMAN flavin containing monooxygenase 5 isoform 1 425 integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding ovary(3) 3 all_hematologic(923;0.0487) ATGGTATGGCGTTGGCTCTCC 0.378 7 23 --- --- --- --- PASS CHD1L 9557 broad.mit.edu 37 1 146757105 146757105 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:146757105G>A uc001epm.3 + 17 2022 c.1959G>A c.(1957-1959)AAG>AAA p.K653K uc001epp.2_Intron|CHD1L_uc001epn.3_Silent_p.K540K|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Silent_p.K559K|CHD1L_uc010ozp.1_Silent_p.K372K|CHD1L_uc001epo.3_Silent_p.K449K|CHD1L_uc010ozq.1_Silent_p.K226K|CHD1L_uc009wji.2_Silent_p.K372K NM_004284 NP_004275 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 653 Potential. chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(3)|lung(2)|upper_aerodigestive_tract(1) 6 all_hematologic(923;0.0487) CAGCTGCCAAGAGAAGGAGAC 0.493 37 132 --- --- --- --- PASS GJA8 2703 broad.mit.edu 37 1 147380281 147380281 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:147380281G>A uc001epu.1 + 2 262 c.199G>A c.(199-201)GAC>AAC p.D67N NM_005267 NP_005258 P48165 CXA8_HUMAN connexin 50 67 Extracellular (Potential). cell communication|visual perception connexon complex|integral to plasma membrane channel activity ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.0276) CGTCTGCTACGACGAGGCCTT 0.612 29 43 --- --- --- --- PASS SV2A 9900 broad.mit.edu 37 1 149884930 149884930 + Missense_Mutation SNP T G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:149884930T>G uc001etg.2 - 2 954 c.463A>C c.(463-465)ATC>CTC p.I155L SV2A_uc001eth.2_Missense_Mutation_p.I155L NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2 155 Cytoplasmic (Potential). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(6)|pancreas(1) 7 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) TCCCGTAGGATGGCTTCATAC 0.607 16 19 --- --- --- --- PASS MTMR11 10903 broad.mit.edu 37 1 149902774 149902774 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:149902774G>A uc001etl.3 - 14 1625 c.1374C>T c.(1372-1374)TTC>TTT p.F458F SF3B4_uc001etk.1_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.1_Silent_p.F386F|MTMR11_uc010pbm.1_3'UTR|MTMR11_uc010pbn.1_3'UTR NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN myotubularin related protein 11 isoform a 458 Myotubularin phosphatase. phosphatase activity central_nervous_system(1) 1 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) GAGCAAGAAGGAAAAACTCAG 0.493 16 15 --- --- --- --- PASS ARNT 405 broad.mit.edu 37 1 150784532 150784532 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:150784532G>A uc001evr.1 - 22 2478 c.2335C>T c.(2335-2337)CCT>TCT p.P779S ARNT_uc010pck.1_Missense_Mutation_p.P267S|ARNT_uc001evs.1_Missense_Mutation_p.P764S|ARNT_uc009wmb.1_Missense_Mutation_p.P765S|ARNT_uc009wmc.1_Missense_Mutation_p.P777S|ARNT_uc009wmd.1_Missense_Mutation_p.P763S NM_001668 NP_001659 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 779 positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity skin(4)|lung(3)|central_nervous_system(1)|kidney(1) 9 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) GTTAGATCAGGGAATTCTTCA 0.403 T ETV6 AML 13 35 --- --- --- --- PASS ARNT 405 broad.mit.edu 37 1 150790443 150790443 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:150790443G>A uc001evr.1 - 15 1601 c.1458C>T c.(1456-1458)CCC>CCT p.P486P ARNT_uc010pck.1_5'Flank|ARNT_uc001evs.1_Silent_p.P471P|ARNT_uc009wmb.1_Silent_p.P472P|ARNT_uc009wmc.1_Silent_p.P486P|ARNT_uc009wmd.1_Silent_p.P471P|ARNT_uc009wme.1_3'UTR NM_001668 NP_001659 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 486 positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity skin(4)|lung(3)|central_nervous_system(1)|kidney(1) 9 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) AATTAGCTGTGGGACCTAGTT 0.522 T ETV6 AML 6 13 --- --- --- --- PASS ANXA9 8416 broad.mit.edu 37 1 150958867 150958867 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:150958867G>A uc001ewa.2 + 8 998 c.528G>A c.(526-528)CAG>CAA p.Q176Q NM_003568 NP_003559 O76027 ANXA9_HUMAN annexin A9 176 Annexin 2. cell-cell adhesion cell surface|cytosol acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity 0 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GCATCTTGCAGGACCTGCTGT 0.572 18 13 --- --- --- --- PASS FAM63A 55793 broad.mit.edu 37 1 150971880 150971880 + Nonsense_Mutation SNP G A A rs150431391 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:150971880G>A uc001ewf.2 - 8 2630 c.946C>T c.(946-948)CGA>TGA p.R316* FAM63A_uc001ewc.2_Nonsense_Mutation_p.R174*|FAM63A_uc010pcm.1_Nonsense_Mutation_p.R221*|FAM63A_uc001ewd.2_Nonsense_Mutation_p.R174*|FAM63A_uc001ewe.2_Nonsense_Mutation_p.R150*|FAM63A_uc010pcn.1_Nonsense_Mutation_p.R364*|FAM63A_uc001ewg.2_Nonsense_Mutation_p.R316* NM_018379 NP_001156731 Q8N5J2 FA63A_HUMAN hypothetical protein LOC55793 isoform 1 316 protein binding ovary(1) 1 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TGGTTGTTTCGGAAAAAGACG 0.547 53 101 --- --- --- --- PASS FAM63A 55793 broad.mit.edu 37 1 150971965 150971965 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:150971965C>T uc001ewf.2 - 8 2545 c.861G>A c.(859-861)CTG>CTA p.L287L FAM63A_uc001ewc.2_Silent_p.L145L|FAM63A_uc010pcm.1_Silent_p.L192L|FAM63A_uc001ewd.2_Silent_p.L145L|FAM63A_uc001ewe.2_Silent_p.L121L|FAM63A_uc010pcn.1_Silent_p.L335L|FAM63A_uc001ewg.2_Silent_p.L287L NM_018379 NP_001156731 Q8N5J2 FA63A_HUMAN hypothetical protein LOC55793 isoform 1 287 L -> P (in Ref. 2; BAA92104). protein binding ovary(1) 1 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CGGTGGTCTCCAGGAACTGCT 0.552 47 62 --- --- --- --- PASS FAM63A 55793 broad.mit.edu 37 1 150971968 150971968 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:150971968G>A uc001ewf.2 - 8 2542 c.858C>T c.(856-858)TTC>TTT p.F286F FAM63A_uc001ewc.2_Silent_p.F144F|FAM63A_uc010pcm.1_Silent_p.F191F|FAM63A_uc001ewd.2_Silent_p.F144F|FAM63A_uc001ewe.2_Silent_p.F120F|FAM63A_uc010pcn.1_Silent_p.F334F|FAM63A_uc001ewg.2_Silent_p.F286F NM_018379 NP_001156731 Q8N5J2 FA63A_HUMAN hypothetical protein LOC55793 isoform 1 286 protein binding ovary(1) 1 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TGGTCTCCAGGAACTGCTCTG 0.557 19 89 --- --- --- --- PASS BNIPL 149428 broad.mit.edu 37 1 151015542 151015542 + Nonsense_Mutation SNP C T T rs141131792 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:151015542C>T uc001ewl.2 + 5 717 c.544C>T c.(544-546)CGA>TGA p.R182* BNIPL_uc009wmi.2_Nonsense_Mutation_p.R100*|BNIPL_uc009wmj.2_RNA NM_138278 NP_612122 Q7Z465 BNIPL_HUMAN BCL2/adenovirus E1B 19kD interacting protein 182 apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate cytosol|nucleus identical protein binding 0 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GAGGGTGTTCCGAATGGGACC 0.542 12 33 --- --- --- --- PASS SCNM1 79005 broad.mit.edu 37 1 151141495 151141495 + Missense_Mutation SNP G T T rs139584849 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:151141495G>T uc001ewz.2 + 7 739 c.627G>T c.(625-627)TGG>TGT p.W209C SCNM1_uc009wmn.2_RNA NM_024041 NP_076946 Q9BWG6 SCNM1_HUMAN sodium channel modifier 1 209 mRNA processing|RNA splicing nucleus metal ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GAGGTCGATGGGTAAAAGATG 0.393 5 78 --- --- --- --- PASS PIP5K1A 8394 broad.mit.edu 37 1 151209235 151209235 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:151209235G>A uc001exj.2 + 9 1593 c.1141G>A c.(1141-1143)GAC>AAC p.D381N PIP5K1A_uc001exi.2_Missense_Mutation_p.D368N|PIP5K1A_uc010pcu.1_Missense_Mutation_p.D369N|PIP5K1A_uc001exk.2_Missense_Mutation_p.D368N|PIP5K1A_uc010pcv.1_Missense_Mutation_p.D138N NM_001135638 NP_001129110 Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 381 PIPK. phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) GGAGACTGATGACCAGTAAGT 0.443 5 15 --- --- --- --- PASS PI4KB 5298 broad.mit.edu 37 1 151278830 151278830 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:151278830G>A uc001ext.2 - 5 1607 c.1192C>T c.(1192-1194)CTG>TTG p.L398L PI4KB_uc001exr.2_Silent_p.L410L|PI4KB_uc001exs.2_Silent_p.L383L|PI4KB_uc001exu.2_Silent_p.L383L|PI4KB_uc010pcw.1_Silent_p.L66L NM_002651 NP_002642 Q9UBF8 PI4KB_HUMAN catalytic phosphatidylinositol 4-kinase beta 398 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding ovary(2)|skin(2) 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) ACATAAATCAGGTAGGGAGCC 0.493 5 21 --- --- --- --- PASS CGN 57530 broad.mit.edu 37 1 151502589 151502589 + Missense_Mutation SNP G A A rs41272459 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:151502589G>A uc009wmw.2 + 12 2455 c.2311G>A c.(2311-2313)GAG>AAG p.E771K NM_020770 NP_065821 Q9P2M7 CING_HUMAN cingulin 765 Glu-rich.|Potential. myosin complex|tight junction actin binding|motor activity ovary(2)|pancreas(1) 3 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GCAGCGGCTGGAGGTCAGTGG 0.582 8 22 --- --- --- --- PASS TUFT1 7286 broad.mit.edu 37 1 151553518 151553518 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:151553518G>T uc001eyl.2 + 12 1171 c.1109G>T c.(1108-1110)AGT>ATT p.S370I TUFT1_uc001eym.2_Missense_Mutation_p.S345I|TUFT1_uc010pdf.1_Missense_Mutation_p.S389I|TUFT1_uc010pdg.1_Missense_Mutation_p.S318I NM_020127 NP_064512 Q9NNX1 TUFT1_HUMAN tuftelin 1 isoform 1 370 bone mineralization|odontogenesis cytoplasm|extracellular region structural constituent of tooth enamel 0 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) AACCCGGGCAGGTGAGTGAGC 0.527 4 31 --- --- --- --- PASS CELF3 11189 broad.mit.edu 37 1 151677575 151677575 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:151677575C>T uc001eys.1 - 12 2134 c.1340G>A c.(1339-1341)GGC>GAC p.G447D CELF3_uc010pdh.1_Missense_Mutation_p.G233D|CELF3_uc001eyr.2_Missense_Mutation_p.G446D|CELF3_uc009wmy.2_Missense_Mutation_p.G397D|CELF3_uc009wmx.1_Missense_Mutation_p.G446D NM_007185 NP_009116 Q5SZQ8 CELF3_HUMAN trinucleotide repeat containing 4 447 RRM 3. nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding ovary(1)|central_nervous_system(1) 2 GCGCTTCATGCCGATCTGGAA 0.642 11 20 --- --- --- --- PASS TCHHL1 126637 broad.mit.edu 37 1 152058447 152058447 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:152058447C>T uc001ezo.1 - 3 1776 c.1711G>A c.(1711-1713)GGG>AGG p.G571R NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 571 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TGGGAGTCCCCTTGCACAGGC 0.522 22 59 --- --- --- --- PASS TCHHL1 126637 broad.mit.edu 37 1 152058776 152058776 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:152058776C>T uc001ezo.1 - 3 1447 c.1382G>A c.(1381-1383)GGA>GAA p.G461E NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 461 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) GACTGCTGTTCCTTCAAGTTC 0.458 21 73 --- --- --- --- PASS HRNR 388697 broad.mit.edu 37 1 152188180 152188180 + Silent SNP G A A rs148177357 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:152188180G>A uc001ezt.1 - 3 6001 c.5925C>T c.(5923-5925)TCC>TCT p.S1975S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 1975 22. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGCCACGGCTGGAAGACCACC 0.597 20 498 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152276621 152276621 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:152276621G>A uc001ezu.1 - 3 10777 c.10741C>T c.(10741-10743)CAT>TAT p.H3581Y NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3581 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTTCGTGATGGGACGTGGGG 0.557 Ichthyosis 52 162 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152278894 152278894 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:152278894C>T uc001ezu.1 - 3 8504 c.8468G>A c.(8467-8469)GGA>GAA p.G2823E NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2823 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATCAGACCTTCCCTGGGATGT 0.587 Ichthyosis 63 101 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152283957 152283957 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:152283957C>T uc001ezu.1 - 3 3441 c.3405G>A c.(3403-3405)AGG>AGA p.R1135R uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1135 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CAGTGCTGGTCCTGGTCCGCC 0.602 Ichthyosis 91 118 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152285383 152285383 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:152285383G>T uc001ezu.1 - 3 2015 c.1979C>A c.(1978-1980)CCC>CAC p.P660H uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 660 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGGGACCTGGGGTGTCTGGA 0.542 Ichthyosis 7 218 --- --- --- --- PASS FLG2 388698 broad.mit.edu 37 1 152325569 152325569 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:152325569C>T uc001ezw.3 - 3 4766 c.4693G>A c.(4693-4695)GGG>AGG p.G1565R uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1565 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCCTGGACCCTGTCTGTGTG 0.488 46 97 --- --- --- --- PASS S100A7A 338324 broad.mit.edu 37 1 153390678 153390678 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:153390678C>T uc001fbt.1 + 2 177 c.120C>T c.(118-120)TTC>TTT p.F40F NM_176823 NP_789793 Q86SG5 S1A7A_HUMAN S100 calcium binding protein A7-like 1 40 EF-hand 1. cytoplasm calcium ion binding skin(1) 1 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) AGGAGAACTTCCCCAATTTCC 0.438 19 52 --- --- --- --- PASS NPR1 4881 broad.mit.edu 37 1 153659802 153659802 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:153659802G>A uc001fcs.3 + 13 2483 c.2062G>A c.(2062-2064)GAC>AAC p.D688N NPR1_uc010pdz.1_Missense_Mutation_p.D434N|NPR1_uc010pea.1_Missense_Mutation_p.D166N NM_000906 NP_000897 P16066 ANPRA_HUMAN natriuretic peptide receptor 1 precursor 688 Cytoplasmic (Potential).|Protein kinase. body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity ovary(3)|lung(2)|stomach(1)|breast(1) 7 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) CAGGGACCTGGACCCAGAGCA 0.557 19 19 --- --- --- --- PASS SLC39A1 27173 broad.mit.edu 37 1 153933221 153933221 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:153933221G>A uc001fdh.2 - 4 497 c.328C>T c.(328-330)CCA>TCA p.P110S CRTC2_uc010ped.1_5'Flank|SLC39A1_uc001fdi.2_Missense_Mutation_p.P110S|SLC39A1_uc001fdj.2_Missense_Mutation_p.P110S|SLC39A1_uc001fdk.2_Missense_Mutation_p.P110S|SLC39A1_uc010pee.1_Missense_Mutation_p.P8S|SLC39A1_uc001fdl.2_Missense_Mutation_p.P110S NM_014437 NP_055252 Q9NY26 S39A1_HUMAN solute carrier family 39 (zinc transporter), 110 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane zinc ion transmembrane transporter activity 0 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Colorectal(1306;0.019) TCTTGCAGTGGGAACTGGAGC 0.537 13 13 --- --- --- --- PASS HAX1 10456 broad.mit.edu 37 1 154246318 154246318 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:154246318A>G uc001fes.2 + 3 546 c.385A>G c.(385-387)ATG>GTG p.M129V HAX1_uc001fet.2_Missense_Mutation_p.M81V|HAX1_uc010peo.1_Missense_Mutation_p.M137V|HAX1_uc009wou.2_Missense_Mutation_p.M54V|HAX1_uc009wov.2_Missense_Mutation_p.M103V NM_006118 NP_006109 O00165 HAX1_HUMAN HCLS1 associated protein X-1 isoform a 129 Involved in HCLS1 binding. actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding 0 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TCGGGACTCAATGCTTAAGTA 0.552 Kostmann_syndrome 27 53 --- --- --- --- PASS ATP8B2 57198 broad.mit.edu 37 1 154315615 154315615 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:154315615C>A uc001fex.2 + 16 1579 c.1579C>A c.(1579-1581)CCA>ACA p.P527T NM_020452 NP_065185 P98198 AT8B2_HUMAN ATPase, class I, type 8B, member 2 isoform a 513 Cytoplasmic (Potential). ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(1)|skin(1) 2 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AGCTCAGTCCCCAGATGAGGG 0.582 4 23 --- --- --- --- PASS LENEP 55891 broad.mit.edu 37 1 154966201 154966201 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:154966201C>T uc001fgi.2 + 1 140 c.118C>T c.(118-120)CAG>TAG p.Q40* NM_018655 NP_061125 Q9Y5L5 LENEP_HUMAN lens epithelial protein 40 multicellular organismal development DNA binding 0 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGAGGGCTTCCAGCGGACCCT 0.607 9 21 --- --- --- --- PASS ZBTB7B 51043 broad.mit.edu 37 1 154988918 154988918 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:154988918C>T uc001fgk.3 + 4 1535 c.1377C>T c.(1375-1377)ACC>ACT p.T459T ZBTB7B_uc009wpa.2_Silent_p.T459T|ZBTB7B_uc001fgj.3_Silent_p.T493T|ZBTB7B_uc010peq.1_Silent_p.T493T|ZBTB7B_uc001fgl.3_Silent_p.T459T NM_015872 NP_056956 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 459 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding 0 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) AGGTGCGCACCCGACGGCGCC 0.667 10 11 --- --- --- --- PASS ADAM15 8751 broad.mit.edu 37 1 155029676 155029676 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:155029676C>T uc001fgr.1 + 12 1262 c.1161C>T c.(1159-1161)GGC>GGT p.G387G ADAM15_uc001fgq.1_Silent_p.G72G|ADAM15_uc010pet.1_Silent_p.G371G|ADAM15_uc010peu.1_Silent_p.G404G|ADAM15_uc001fgt.1_Silent_p.G387G|ADAM15_uc010pev.1_Silent_p.G397G|ADAM15_uc001fgs.1_Silent_p.G387G|ADAM15_uc001fgu.1_Silent_p.G387G|ADAM15_uc001fgw.1_Silent_p.G387G|ADAM15_uc001fgv.1_Silent_p.G387G|ADAM15_uc001fgx.1_Silent_p.G387G|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'Flank NM_207197 NP_997080 Q13444 ADA15_HUMAN a disintegrin and metalloproteinase domain 15 387 Peptidase M12B.|Extracellular (Potential). angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding central_nervous_system(3)|skin(2)|ovary(1) 6 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) TCCTACCAGGCCTGAACTTCA 0.642 9 18 --- --- --- --- PASS THBS3 7059 broad.mit.edu 37 1 155168253 155168253 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:155168253G>A uc001fix.2 - 17 2044 c.2021C>T c.(2020-2022)CCT>CTT p.P674L RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Missense_Mutation_p.P665L|THBS3_uc001fiz.2_Missense_Mutation_p.P637L|THBS3_uc001fiy.2_Missense_Mutation_p.P203L|THBS3_uc010pfu.1_Missense_Mutation_p.P554L|THBS3_uc010pfv.1_RNA NM_007112 NP_009043 P49746 TSP3_HUMAN thrombospondin 3 precursor 674 TSP type-3 7. cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(3)|ovary(2) 5 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) ATCGGGACCAGGAGGCACATA 0.537 23 41 --- --- --- --- PASS ASH1L 55870 broad.mit.edu 37 1 155449538 155449538 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:155449538C>T uc009wqq.2 - 3 3603 c.3123G>A c.(3121-3123)AAG>AAA p.K1041K ASH1L_uc001fkt.2_Silent_p.K1041K|ASH1L_uc009wqr.1_Silent_p.K1041K NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 1041 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TGGTTCCTTTCTTGCTGACAT 0.398 24 30 --- --- --- --- PASS ASH1L 55870 broad.mit.edu 37 1 155450362 155450362 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:155450362G>A uc009wqq.2 - 3 2779 c.2299C>T c.(2299-2301)CCT>TCT p.P767S ASH1L_uc001fkt.2_Missense_Mutation_p.P767S|ASH1L_uc009wqr.1_Missense_Mutation_p.P767S NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 767 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) ACAAATGAAGGGGGTCCAATG 0.388 31 70 --- --- --- --- PASS YY1AP1 55249 broad.mit.edu 37 1 155644852 155644852 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:155644852G>A uc001fln.2 - 6 582 c.558C>T c.(556-558)GCC>GCT p.A186A YY1AP1_uc010pgg.1_Intron|YY1AP1_uc010pgh.1_Silent_p.A109A|YY1AP1_uc010pgi.1_Silent_p.A258A|YY1AP1_uc001flh.2_Silent_p.A258A|YY1AP1_uc009wqt.2_Silent_p.A109A|YY1AP1_uc001flk.2_Silent_p.A109A|YY1AP1_uc001fll.2_Silent_p.A120A|YY1AP1_uc009wqv.2_5'UTR|YY1AP1_uc001flm.2_Silent_p.A109A|YY1AP1_uc001fli.2_Silent_p.A120A|YY1AP1_uc009wqu.2_5'UTR|YY1AP1_uc001flj.2_Silent_p.A120A|YY1AP1_uc009wqw.2_Silent_p.A109A|YY1AP1_uc001flo.2_Silent_p.A54A|YY1AP1_uc001flp.2_Silent_p.A120A|YY1AP1_uc010pgj.1_Silent_p.A186A|YY1AP1_uc009wqx.2_Silent_p.A258A|YY1AP1_uc010pgk.1_Silent_p.A258A NM_139118 NP_620829 Q9H869 YYAP1_HUMAN YY1-associated protein isoform 2 186 regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) GGTTGCAGGTGGCAAGAAGGT 0.428 18 14 --- --- --- --- PASS KIAA0907 22889 broad.mit.edu 37 1 155883947 155883947 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:155883947C>T uc001fmi.1 - 14 1834 c.1810G>A c.(1810-1812)GCT>ACT p.A604T RIT1_uc001fmh.1_5'Flank|RIT1_uc010pgr.1_5'Flank|KIAA0907_uc001fmj.1_3'UTR|KIAA0907_uc009wrk.1_Missense_Mutation_p.A461T NM_014949 NP_055764 Q7Z7F0 K0907_HUMAN hypothetical protein LOC22889 604 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TGTTGTTTAGCTCGTGGTTGT 0.428 22 21 --- --- --- --- PASS SSR2 6746 broad.mit.edu 37 1 155989841 155989841 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:155989841G>A uc001fmx.2 - 2 198 c.118C>T c.(118-120)CTG>TTG p.L40L SSR2_uc001fmw.2_RNA|SSR2_uc001fmy.2_RNA|SSR2_uc010pgv.1_Silent_p.L59L|SSR2_uc010pgw.1_Silent_p.L59L NM_003145 NP_003136 P43308 SSRB_HUMAN signal sequence receptor, beta precursor 40 Lumenal (Potential). cotranslational protein targeting to membrane endoplasmic reticulum membrane|integral to membrane signal sequence binding 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) TGCAAGGTCAGGTCTCGTCCC 0.478 8 32 --- --- --- --- PASS UBQLN4 56893 broad.mit.edu 37 1 156011382 156011382 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:156011382G>A uc001fna.2 - 10 1571 c.1547C>T c.(1546-1548)TCC>TTC p.S516F UBQLN4_uc010pgx.1_Missense_Mutation_p.S496F NM_020131 NP_064516 Q9NRR5 UBQL4_HUMAN ataxin-1 ubiquitin-like interacting protein 516 cytosol|endoplasmic reticulum membrane|nucleus identical protein binding pancreas(1)|skin(1) 2 Hepatocellular(266;0.133)|all_neural(408;0.195) GGCTGGTGAGGAAGTGGGGGC 0.607 7 19 --- --- --- --- PASS IQGAP3 128239 broad.mit.edu 37 1 156526478 156526478 + Silent SNP G A A rs141039819 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:156526478G>A uc001fpf.2 - 12 1212 c.1137C>T c.(1135-1137)CAC>CAT p.H379H IQGAP3_uc009wsb.1_Silent_p.H336H NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 379 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCTGCACAGCGTGGAGCACTG 0.612 11 20 --- --- --- --- PASS BCAN 63827 broad.mit.edu 37 1 156617450 156617450 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:156617450G>A uc001fpp.2 + 4 953 c.617G>A c.(616-618)GGC>GAC p.G206D BCAN_uc001fpo.2_Missense_Mutation_p.G206D NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 206 Link 1. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGTGATGCTGGCTGGCTGTCG 0.657 16 36 --- --- --- --- PASS NES 10763 broad.mit.edu 37 1 156640228 156640228 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:156640228C>T uc001fpq.2 - 4 3885 c.3752G>A c.(3751-3753)GGG>GAG p.G1251E NM_006617 NP_006608 P48681 NEST_HUMAN nestin 1251 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTCAGCCCTCCCCTGCACCCC 0.657 34 63 --- --- --- --- PASS NTRK1 4914 broad.mit.edu 37 1 156834541 156834541 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:156834541C>T uc001fqh.1 + 3 365 c.309C>T c.(307-309)CTC>CTT p.L103L NTRK1_uc001fqf.1_Silent_p.L73L|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Silent_p.L103L|NTRK1_uc009wsk.1_Silent_p.L103L NM_002529 NP_002520 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 103 LRR 1.|Extracellular (Potential). activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(9)|ovary(6)|stomach(1)|central_nervous_system(1) 17 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) AGAGTGGTCTCCGTTTCGTGG 0.642 T TPM3|TPR|TFG papillary thyroid TSP Lung(10;0.080) 6 19 --- --- --- --- PASS NTRK1 4914 broad.mit.edu 37 1 156846359 156846359 + Silent SNP C T T rs139606876 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:156846359C>T uc001fqh.1 + 14 1856 c.1800C>T c.(1798-1800)TTC>TTT p.F600F NTRK1_uc001fqf.1_Silent_p.F564F|NTRK1_uc009wsi.1_Silent_p.F299F|NTRK1_uc001fqi.1_Silent_p.F594F|NTRK1_uc009wsk.1_Silent_p.F597F NM_002529 NP_002520 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 600 Cytoplasmic (Potential).|Protein kinase. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(9)|ovary(6)|stomach(1)|central_nervous_system(1) 17 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) TCAACCGCTTCCTCCGGTACC 0.637 T TPM3|TPR|TFG papillary thyroid TSP Lung(10;0.080) 7 1 --- --- --- --- PASS FCRL5 83416 broad.mit.edu 37 1 157504586 157504586 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:157504586G>A uc001fqu.2 - 8 1657 c.1499C>T c.(1498-1500)TCC>TTC p.S500F FCRL5_uc009wsm.2_Missense_Mutation_p.S500F|FCRL5_uc010phv.1_Missense_Mutation_p.S500F|FCRL5_uc010phw.1_Missense_Mutation_p.S415F|FCRL5_uc001fqv.1_Missense_Mutation_p.S500F|FCRL5_uc010phx.1_Missense_Mutation_p.S251F NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 500 Extracellular (Potential).|Ig-like C2-type 5. integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GATTTGTGGGGAACCTCTCTG 0.522 12 19 --- --- --- --- PASS FCRL4 83417 broad.mit.edu 37 1 157548574 157548574 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:157548574G>A uc001fqw.2 - 9 1482 c.1346C>T c.(1345-1347)TCG>TTG p.S449L FCRL4_uc010phy.1_Intron NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 precursor 449 Cytoplasmic (Potential).|ITIM motif 1. integral to membrane|plasma membrane receptor activity ovary(2)|kidney(1)|skin(1) 4 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) AACATACAACGACTGAAGCTC 0.552 5 3 --- --- --- --- PASS FCRL2 79368 broad.mit.edu 37 1 157740377 157740377 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:157740377C>T uc001fre.2 - 3 191 c.132G>A c.(130-132)TGG>TGA p.W44* FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Nonsense_Mutation_p.W44*|FCRL2_uc009wsp.2_Nonsense_Mutation_p.W44*|FCRL2_uc010pia.1_Nonsense_Mutation_p.W44* NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 44 Ig-like C2-type 1.|Extracellular (Potential). cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity ovary(1)|pancreas(1) 2 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TCTGAATTTTCCAGTTCTGTT 0.428 19 28 --- --- --- --- PASS CD1E 913 broad.mit.edu 37 1 158326590 158326590 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:158326590C>T uc001fse.2 + 6 1310 c.1071C>T c.(1069-1071)ACC>ACT p.T357T CD1E_uc001fsd.2_3'UTR|CD1E_uc001fsk.2_Silent_p.T267T|CD1E_uc001fsj.2_Silent_p.T200T|CD1E_uc001fsc.2_Silent_p.T168T|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Silent_p.T113T|CD1E_uc001fsf.2_Silent_p.T345T|CD1E_uc001fry.2_Silent_p.T290T|CD1E_uc001fsg.2_3'UTR|CD1E_uc001fsh.2_Silent_p.T156T|CD1E_uc001fsi.2_3'UTR|CD1E_uc009wsv.2_Silent_p.T258T|CD1E_uc001frz.2_Silent_p.T255T|CD1E_uc009wsw.2_Missense_Mutation_p.P72L NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 357 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) CTCAGGACACCAAGAATTCAA 0.438 13 51 --- --- --- --- PASS OR10K2 391107 broad.mit.edu 37 1 158390148 158390148 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:158390148G>A uc010pii.1 - 1 509 c.509C>T c.(508-510)TCC>TTC p.S170F NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, 170 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) TTGATTGGAGGAATAAAAAGG 0.473 22 52 --- --- --- --- PASS OR10K2 391107 broad.mit.edu 37 1 158390491 158390491 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:158390491G>A uc010pii.1 - 1 166 c.166C>T c.(166-168)CAT>TAT p.H56Y NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, 56 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) ATGGGGATATGAAGGGCCCTG 0.498 51 71 --- --- --- --- PASS OR10K1 391109 broad.mit.edu 37 1 158435712 158435712 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:158435712G>A uc010pij.1 + 1 361 c.361G>A c.(361-363)GAT>AAT p.D121N NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, 121 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) CATGGGCTATGATCGCTATAT 0.532 22 74 --- --- --- --- PASS OR10R2 343406 broad.mit.edu 37 1 158449910 158449910 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:158449910C>T uc010pik.1 + 1 243 c.243C>T c.(241-243)TTC>TTT p.F81F uc001fso.1_RNA NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, 81 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) CAATGTACTTCTTCCTTGGCA 0.413 31 99 --- --- --- --- PASS OR6Y1 391112 broad.mit.edu 37 1 158517431 158517431 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:158517431G>A uc010pil.1 - 1 465 c.465C>T c.(463-465)TTC>TTT p.F155F NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, 155 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TGAGTCCACAGAACCAGCATC 0.468 9 17 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158583513 158583513 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:158583513C>T uc001fst.1 - 50 7186 c.6987G>A c.(6985-6987)GGG>GGA p.G2329G NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2329 EF-hand 2.|2 (Potential). 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) GTTCCTACCTCCCTGGATCCA 0.493 12 30 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158644457 158644457 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:158644457C>T uc001fst.1 - 9 1320 c.1121G>A c.(1120-1122)CGA>CAA p.R374Q NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 374 Spectrin 5. 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) AGATGAAAATCGATGGTACCT 0.448 45 76 --- --- --- --- PASS PYHIN1 149628 broad.mit.edu 37 1 158908261 158908261 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:158908261C>T uc001ftb.2 + 3 585 c.340C>T c.(340-342)CCT>TCT p.P114S PYHIN1_uc001fta.3_Missense_Mutation_p.P114S|PYHIN1_uc001ftc.2_Missense_Mutation_p.P105S|PYHIN1_uc001ftd.2_Missense_Mutation_p.P114S|PYHIN1_uc001fte.2_Missense_Mutation_p.P105S NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 alpha 1 114 cell cycle nuclear speck ovary(3)|pancreas(1) 4 all_hematologic(112;0.0378) AGAAGTGTATCCTGCTACACC 0.433 33 30 --- --- --- --- PASS PYHIN1 149628 broad.mit.edu 37 1 158913695 158913695 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:158913695G>A uc001ftb.2 + 6 1363 c.1118G>A c.(1117-1119)CGA>CAA p.R373Q PYHIN1_uc001ftc.2_Missense_Mutation_p.R364Q|PYHIN1_uc001ftd.2_Missense_Mutation_p.R373Q|PYHIN1_uc001fte.2_Missense_Mutation_p.R364Q NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 alpha 1 373 HIN-200. cell cycle nuclear speck ovary(3)|pancreas(1) 4 all_hematologic(112;0.0378) GATAAGCTTCGACTCTTCTGC 0.368 23 28 --- --- --- --- PASS CRP 1401 broad.mit.edu 37 1 159683901 159683901 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:159683901G>A uc001ftw.2 - 2 193 c.89C>T c.(88-90)CCC>CTC p.P30L CRP_uc001ftx.1_Missense_Mutation_p.P30L|CRP_uc001fty.1_5'Flank NM_000567 NP_000558 P02741 CRP_HUMAN C-reactive protein, pentraxin-related precursor 30 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) CGACTCTTTGGGAAACACAAA 0.468 15 59 --- --- --- --- PASS CRP 1401 broad.mit.edu 37 1 159683902 159683902 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:159683902G>A uc001ftw.2 - 2 192 c.88C>T c.(88-90)CCC>TCC p.P30S CRP_uc001ftx.1_Missense_Mutation_p.P30S|CRP_uc001fty.1_5'Flank NM_000567 NP_000558 P02741 CRP_HUMAN C-reactive protein, pentraxin-related precursor 30 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) GACTCTTTGGGAAACACAAAA 0.468 15 57 --- --- --- --- PASS FCRL6 343413 broad.mit.edu 37 1 159778967 159778967 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:159778967G>A uc001fud.3 + 4 578 c.536G>A c.(535-537)TGG>TAG p.W179* FCRL6_uc010pix.1_3'UTR|FCRL6_uc001fuc.2_Nonsense_Mutation_p.W186*|FCRL6_uc009wsz.1_Intron|FCRL6_uc009wta.2_Nonsense_Mutation_p.W179* NM_001004310 NP_001004310 Q6DN72 FCRL6_HUMAN Fc receptor-like 6 precursor 179 Ig-like C2-type 2.|Extracellular (Potential). integral to membrane ovary(2)|skin(1) 3 all_hematologic(112;0.0597) GGGCTTTACTGGTGTGAGGTG 0.632 10 25 --- --- --- --- PASS CCDC19 25790 broad.mit.edu 37 1 159857720 159857720 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:159857720C>T uc001fui.2 - 5 517 c.499G>A c.(499-501)GAG>AAG p.E167K CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.E82K|CCDC19_uc001ful.2_Missense_Mutation_p.E82K|CCDC19_uc009wtc.1_Missense_Mutation_p.E167K NM_012337 NP_036469 Q9UL16 CCD19_HUMAN nasopharyngeal epithelium specific protein 1 167 Potential. mitochondrion|soluble fraction ovary(1) 1 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) TTGGCCACCTCCTCCAGGTCA 0.547 55 86 --- --- --- --- PASS SLAMF9 89886 broad.mit.edu 37 1 159923180 159923180 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:159923180C>T uc001fus.2 - 2 427 c.310G>A c.(310-312)GAT>AAT p.D104N SLAMF9_uc009wtd.2_Missense_Mutation_p.D104N|SLAMF9_uc001fut.2_Intron NM_033438 NP_254273 Q96A28 SLAF9_HUMAN SLAM family member 9 isoform 1 104 Extracellular (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AGCCCTGAATCCTCCCAGCTC 0.502 32 43 --- --- --- --- PASS PIGM 93183 broad.mit.edu 37 1 160001449 160001449 + Silent SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:160001449T>A uc001fuv.1 - 1 335 c.81A>T c.(79-81)CTA>CTT p.L27L NM_145167 NP_660150 Q9H3S5 PIGM_HUMAN phosphatidylinositol glycan anchor biosynthesis, 27 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane ovary(2)|skin(1) 3 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CGACTCTGGCTAGAAAGGCCA 0.607 37 53 --- --- --- --- PASS KCNJ10 3766 broad.mit.edu 37 1 160012275 160012275 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:160012275T>A uc001fuw.1 - 2 198 c.48A>T c.(46-48)GAA>GAT p.E16D NM_002241 NP_002232 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily 16 Cytoplasmic (By similarity). integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity ovary(1) 1 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGGGCCGGCTTTCTGTCTGAG 0.537 14 29 --- --- --- --- PASS IGSF8 93185 broad.mit.edu 37 1 160062267 160062267 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:160062267G>A uc001fva.2 - 5 1576 c.1531C>T c.(1531-1533)CGG>TGG p.R511W IGSF8_uc001fuz.2_Missense_Mutation_p.R511W|IGSF8_uc009wtf.2_Missense_Mutation_p.R511W NM_052868 NP_443100 Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 511 Ig-like C2-type 4.|Extracellular (Potential). cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding 0 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CCTCCAGGCCGGACTCCCAGC 0.667 5 8 --- --- --- --- PASS ATP1A4 480 broad.mit.edu 37 1 160124859 160124859 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:160124859G>A uc001fve.3 + 3 711 c.232G>A c.(232-234)GAA>AAA p.E78K ATP1A4_uc001fvf.3_RNA NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 78 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AAGGGCAAAGGAAATCCTGAC 0.507 26 96 --- --- --- --- PASS NCSTN 23385 broad.mit.edu 37 1 160322955 160322955 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:160322955C>T uc001fvx.2 + 10 1231 c.1107C>T c.(1105-1107)GCC>GCT p.A369A NCSTN_uc001fvy.2_Silent_p.A349A|NCSTN_uc010pjf.1_Silent_p.A231A|NCSTN_uc001fvz.2_Silent_p.A149A|NCSTN_uc010pjg.1_Silent_p.A111A NM_015331 NP_056146 Q92542 NICA_HUMAN nicastrin precursor 369 Extracellular (Potential). amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding ovary(1)|lung(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCCAGGTGGCCTTAAGAACTT 0.493 4 31 --- --- --- --- PASS SLAMF1 6504 broad.mit.edu 37 1 160589610 160589610 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:160589610C>T uc001fwl.3 - 5 1166 c.820G>A c.(820-822)GAA>AAA p.E274K SLAMF1_uc010pjk.1_Intron|SLAMF1_uc010pjl.1_Intron|SLAMF1_uc010pjm.1_Intron NM_003037 NP_003028 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family 274 Cytoplasmic (Potential).|Ig-like V-type. interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity ovary(1)|breast(1) 2 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CTTTTTTTTTCCACTGTTGTC 0.433 23 68 --- --- --- --- PASS PVRL4 81607 broad.mit.edu 37 1 161043560 161043560 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:161043560C>T uc001fxo.2 - 7 1482 c.1183G>A c.(1183-1185)GAG>AAG p.E395K PVRL4_uc010pjy.1_Missense_Mutation_p.E74K|PVRL4_uc010pjz.1_Missense_Mutation_p.E129K NM_030916 NP_112178 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 precursor 395 Cytoplasmic (Potential). adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane ovary(2) 2 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) ATGGAGTTCTCCCTGGTCAGG 0.612 14 25 --- --- --- --- PASS KLHDC9 126823 broad.mit.edu 37 1 161068494 161068494 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:161068494G>A uc001fxr.2 + 1 341 c.169G>A c.(169-171)GAT>AAT p.D57N KLHDC9_uc001fxq.2_5'UTR|KLHDC9_uc001fxs.2_Missense_Mutation_p.D57N NM_152366 NP_689579 Q8NEP7 KLDC9_HUMAN kelch/ankyrin repeat containing cyclin A1 57 Kelch 1. 0 all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GCCCAGCAGCGATACGGTGGT 0.657 5 4 --- --- --- --- PASS UFC1 51506 broad.mit.edu 37 1 161127061 161127061 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:161127061G>T uc001fyd.3 + 3 463 c.209G>T c.(208-210)TGG>TTG p.W70L USP21_uc010pkc.1_5'Flank|USP21_uc010pkd.1_5'Flank|USP21_uc010pke.1_5'Flank|USP21_uc010pkf.1_5'Flank NM_016406 NP_057490 Q9Y3C8 UFC1_HUMAN ubiquitin-fold modifier conjugating enzyme 1 70 protein ufmylation protein binding|UFM1 conjugating enzyme activity 0 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GGAAAATGCTGGTATATCCAT 0.433 5 107 --- --- --- --- PASS ADAMTS4 9507 broad.mit.edu 37 1 161161863 161161863 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:161161863C>T uc001fyt.3 - 8 2507 c.2079G>A c.(2077-2079)AGG>AGA p.R693R NM_005099 NP_005090 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 693 Spacer. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding ovary(4)|central_nervous_system(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) ACCTGAATTTCCTGAAGGAGC 0.383 OREG0013940 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 45 --- --- --- --- PASS ADAMTS4 9507 broad.mit.edu 37 1 161164011 161164011 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:161164011C>T uc001fyt.3 - 5 1690 c.1262G>A c.(1261-1263)GGG>GAG p.G421E NM_005099 NP_005090 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 421 Peptidase M12B. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding ovary(4)|central_nervous_system(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GAGACAGTGCCCTGGGAAGGG 0.587 11 36 --- --- --- --- PASS UHMK1 127933 broad.mit.edu 37 1 162482360 162482360 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:162482360C>T uc001gcc.1 + 5 1055 c.919C>T c.(919-921)CCT>TCT p.P307S UHMK1_uc001gcb.1_Missense_Mutation_p.P233S|UHMK1_uc009wuu.1_Missense_Mutation_p.P307S NM_175866 NP_787062 Q8TAS1 UHMK1_HUMAN kinase interacting stathmin 307 cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus axon|dendrite cytoplasm|neuronal RNA granule|nucleus protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding 0 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) CTTTAGCATTCCTTTTGGTAA 0.353 33 50 --- --- --- --- PASS DDR2 4921 broad.mit.edu 37 1 162745458 162745458 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:162745458G>A uc001gcf.2 + 16 2338 c.1873G>A c.(1873-1875)GAG>AAG p.E625K DDR2_uc001gcg.2_Missense_Mutation_p.E625K NM_001014796 NP_001014796 Q16832 DDR2_HUMAN discoidin domain receptor family, member 2 625 Cytoplasmic (Potential).|Protein kinase. cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(2)|central_nervous_system(2)|ovary(1)|kidney(1) 6 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) TTTTCTTAAGGAGATAAAGAT 0.418 12 52 --- --- --- --- PASS NUF2 83540 broad.mit.edu 37 1 163318799 163318799 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:163318799G>A uc001gcq.1 + 13 1489 c.1189G>A c.(1189-1191)GAA>AAA p.E397K NUF2_uc001gcr.1_Missense_Mutation_p.E397K|NUF2_uc009wvc.1_Missense_Mutation_p.E350K NM_145697 NP_663735 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 397 Interaction with the C-terminus of NDC80 and the SPBC24-SPBC25 subcomplex.|Potential. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding p.E397D(1) ovary(3)|skin(1) 4 all_hematologic(923;0.101) AATTAATCAAGAAATCCAAAA 0.333 12 25 --- --- --- --- PASS DUSP27 92235 broad.mit.edu 37 1 167095388 167095388 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:167095388C>T uc001geb.1 + 5 1020 c.1020C>T c.(1018-1020)ACC>ACT p.T340T NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 340 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 AGCCCCTCACCCTCATAGACG 0.652 5 2 --- --- --- --- PASS DUSP27 92235 broad.mit.edu 37 1 167097050 167097050 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:167097050G>A uc001geb.1 + 5 2682 c.2682G>A c.(2680-2682)GGG>GGA p.G894G NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 894 Ser-rich. protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 GTGCCATAGGGAGCTTCCGAT 0.507 11 33 --- --- --- --- PASS TBX19 9095 broad.mit.edu 37 1 168262467 168262467 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:168262467C>T uc001gfl.2 + 3 605 c.554C>T c.(553-555)TCC>TTC p.S185F TBX19_uc001gfj.3_Missense_Mutation_p.S116F NM_005149 NP_005140 O60806 TBX19_HUMAN T-box 19 185 T-box. anatomical structure morphogenesis nucleus DNA binding 0 all_hematologic(923;0.215) ACAAACTGCTCCTTCCCTGAA 0.368 8 16 --- --- --- --- PASS TBX19 9095 broad.mit.edu 37 1 168262468 168262468 + Silent SNP C T T rs142365505 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:168262468C>T uc001gfl.2 + 3 606 c.555C>T c.(553-555)TCC>TCT p.S185S TBX19_uc001gfj.3_Silent_p.S116S NM_005149 NP_005140 O60806 TBX19_HUMAN T-box 19 185 T-box. anatomical structure morphogenesis nucleus DNA binding 0 all_hematologic(923;0.215) CAAACTGCTCCTTCCCTGAAA 0.363 8 15 --- --- --- --- PASS NME7 29922 broad.mit.edu 37 1 169267909 169267909 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:169267909G>A uc001gfu.2 - 6 771 c.533C>T c.(532-534)CCT>CTT p.P178L NME7_uc010plq.1_RNA|NME7_uc001gft.2_Missense_Mutation_p.P142L|NME7_uc001gfv.1_Missense_Mutation_p.P178L NM_013330 NP_037462 Q9Y5B8 NDK7_HUMAN nucleoside diphosphate kinase 7 isoform a 178 CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process centrosome ATP binding|metal ion binding|nucleoside diphosphate kinase activity central_nervous_system(1) 1 all_hematologic(923;0.208) AGAGTTTGCAGGTCCCAGCAG 0.433 23 38 --- --- --- --- PASS F5 2153 broad.mit.edu 37 1 169510270 169510270 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:169510270C>T uc001ggg.1 - 13 4203 c.4058G>A c.(4057-4059)GGT>GAT p.G1353D NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 1353 2-19.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GGGCATCTGACCGAGGGCTGG 0.517 71 130 --- --- --- --- PASS SELP 6403 broad.mit.edu 37 1 169586359 169586359 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:169586359C>T uc001ggi.3 - 3 453 c.388G>A c.(388-390)GAC>AAC p.D130N SELP_uc001ggh.2_5'UTR|SELP_uc009wvr.2_Missense_Mutation_p.D130N NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 130 Extracellular (Potential).|C-type lectin. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) TCCACGCAGTCCTCGTTGTTC 0.483 27 80 --- --- --- --- PASS SELP 6403 broad.mit.edu 37 1 169586483 169586483 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:169586483G>T uc001ggi.3 - 3 329 c.264C>A c.(262-264)TCC>TCA p.S88S SELP_uc001ggh.2_5'UTR|SELP_uc009wvr.2_Silent_p.S88S NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 88 Extracellular (Potential).|C-type lectin. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) TCCAGTAGTAGGAGCTGTAGT 0.443 5 127 --- --- --- --- PASS GORAB 92344 broad.mit.edu 37 1 170521499 170521499 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:170521499C>T uc001gha.2 + 5 1108 c.1081C>T c.(1081-1083)CCA>TCA p.P361S GORAB_uc009wvx.2_Missense_Mutation_p.P181S|GORAB_uc001ghb.2_Missense_Mutation_p.P181S|GORAB_uc001ghc.2_Missense_Mutation_p.P181S|GORAB_uc001ghd.2_Missense_Mutation_p.P154S NM_152281 NP_689494 Q5T7V8 GORAB_HUMAN golgin, RAB6-interacting isoform a 361 Necessary for interaction with RCHY1. Golgi apparatus|nucleus 0 AGCTGTTTCCCCAAAGGTAGA 0.453 26 46 --- --- --- --- PASS C1orf129 80133 broad.mit.edu 37 1 170940962 170940962 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:170940962C>T uc001ghg.2 + 8 684 c.554C>T c.(553-555)TCG>TTG p.S185L C1orf129_uc009wvy.2_5'UTR|C1orf129_uc010plz.1_Missense_Mutation_p.S185L NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 185 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GAAGATCCCTCGATTGTAAAA 0.443 54 93 --- --- --- --- PASS FMO4 2329 broad.mit.edu 37 1 171293368 171293368 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:171293368C>T uc001gho.2 + 5 630 c.413C>T c.(412-414)GCT>GTT p.A138V NM_002022 NP_002013 P31512 FMO4_HUMAN flavin containing monooxygenase 4 138 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding kidney(2)|skin(1) 3 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) CAAAATAGAGCTGTCTTTGAT 0.473 106 187 --- --- --- --- PASS C1orf9 51430 broad.mit.edu 37 1 172538220 172538220 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:172538220C>T uc001giq.3 + 7 1110 c.794C>T c.(793-795)CCA>CTA p.P265L C1orf9_uc010pmm.1_Missense_Mutation_p.P265L|C1orf9_uc009wwd.2_Missense_Mutation_p.P228L|C1orf9_uc010pmn.1_Missense_Mutation_p.P228L|C1orf9_uc010pmo.1_RNA NM_014283 NP_055098 Q9UBS9 OSPT_HUMAN chromosome 1 open reading frame 9 protein 265 multicellular organismal development|ossification integral to membrane|rough endoplasmic reticulum membrane ovary(2) 2 Breast(1374;0.212) Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544) CCCAAAGATCCAGAAGATATA 0.318 22 65 --- --- --- --- PASS FASLG 356 broad.mit.edu 37 1 172634791 172634791 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:172634791G>A uc001gis.2 + 4 638 c.481G>A c.(481-483)GAA>AAA p.E161K FASLG_uc001git.2_3'UTR NM_000639 NP_000630 P48023 TNFL6_HUMAN fas ligand 161 Extracellular (Potential). activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity lung(2)|breast(1) 3 CATGCCTCTGGAATGGGAAGA 0.418 17 59 --- --- --- --- PASS SLC9A11 284525 broad.mit.edu 37 1 173526526 173526526 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:173526526G>A uc001giz.2 - 10 1591 c.1168C>T c.(1168-1170)CCT>TCT p.P390S SLC9A11_uc009wwe.2_5'UTR|SLC9A11_uc010pmq.1_RNA NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 390 Helical; (Potential). sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 TAAACATCAGGAGCCCAGAGT 0.343 44 49 --- --- --- --- PASS ZBTB37 84614 broad.mit.edu 37 1 173839578 173839578 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:173839578C>T uc009wwp.1 + 3 491 c.215C>T c.(214-216)TCA>TTA p.S72L GAS5_uc001gjj.2_5'Flank|GAS5_uc001gjk.2_5'Flank|SNORD74_uc001gjo.1_5'Flank|ZBTB37_uc001gjp.1_Missense_Mutation_p.S72L|ZBTB37_uc001gjq.3_Missense_Mutation_p.S72L|ZBTB37_uc001gjr.2_Missense_Mutation_p.S72L NM_001122770 NP_001116242 Q5TC79 ZBT37_HUMAN zinc finger and BTB domain containing 37 isoform 72 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTCTCCATTTCAGTCATCAAG 0.483 12 46 --- --- --- --- PASS SERPINC1 462 broad.mit.edu 37 1 173878828 173878828 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:173878828A>T uc001gjt.2 - 5 1134 c.1015T>A c.(1015-1017)TGG>AGG p.W339R NM_000488 NP_000479 P01008 ANT3_HUMAN serpin peptidase inhibitor, clade C, member 1 339 blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(1) 1 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) TCATCCAGCCACTCTTGCAGC 0.552 23 44 --- --- --- --- PASS RC3H1 149041 broad.mit.edu 37 1 173930262 173930262 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:173930262G>A uc001gju.3 - 12 2410 c.2323C>T c.(2323-2325)CCT>TCT p.P775S RC3H1_uc010pms.1_Missense_Mutation_p.P775S|RC3H1_uc001gjv.2_Missense_Mutation_p.P775S|RC3H1_uc010pmt.1_Missense_Mutation_p.P775S NM_172071 NP_742068 Q5TC82 RC3H1_HUMAN roquin 775 Pro-rich. cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 GGTGCAAAAGGAGGTGGAGAG 0.413 24 30 --- --- --- --- PASS RABGAP1L 9910 broad.mit.edu 37 1 174363266 174363266 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:174363266C>T uc001gjx.2 + 13 1888 c.1693C>T c.(1693-1695)CGA>TGA p.R565* RABGAP1L_uc009wwq.1_Nonsense_Mutation_p.R577*|RABGAP1L_uc001gjw.2_Nonsense_Mutation_p.R528*|RABGAP1L_uc001gjy.2_Nonsense_Mutation_p.R233*|RABGAP1L_uc001gjz.2_Nonsense_Mutation_p.R212* NM_014857 NP_055672 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like isoform A 565 Rab-GAP TBC. regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity ovary(2)|lung(1)|kidney(1) 4 GGATAGATACCGAATTCTTAT 0.408 11 46 --- --- --- --- PASS RABGAP1L 9910 broad.mit.edu 37 1 174363272 174363272 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:174363272C>T uc001gjx.2 + 13 1894 c.1699C>T c.(1699-1701)CTT>TTT p.L567F RABGAP1L_uc009wwq.1_Missense_Mutation_p.L579F|RABGAP1L_uc001gjw.2_Missense_Mutation_p.L530F|RABGAP1L_uc001gjy.2_Missense_Mutation_p.L235F|RABGAP1L_uc001gjz.2_Missense_Mutation_p.L214F NM_014857 NP_055672 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like isoform A 567 Rab-GAP TBC. regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity ovary(2)|lung(1)|kidney(1) 4 ATACCGAATTCTTATCACAAA 0.403 24 34 --- --- --- --- PASS GPR52 9293 broad.mit.edu 37 1 174417516 174417516 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:174417516C>T uc001gka.1 + 1 305 c.267C>T c.(265-267)TTC>TTT p.F89F RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron NM_005684 NP_005675 Q9Y2T5 GPR52_HUMAN G protein-coupled receptor 52 89 Helical; Name=2; (Potential). integral to plasma membrane G-protein coupled receptor activity skin(1) 1 CTGATCTTTTCGTTGGAGTTA 0.423 40 107 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175375791 175375791 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:175375791G>A uc001gkp.1 - 1 141 c.60C>T c.(58-60)ATC>ATT p.I20I TNR_uc009wwu.1_Silent_p.I20I|TNR_uc010pmz.1_Silent_p.I20I NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 20 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) AGCCCAGAAGGATCAGGTTGA 0.552 29 43 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176525760 176525760 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:176525760G>A uc001gkz.2 + 2 1466 c.302G>A c.(301-303)GGA>GAA p.G101E PAPPA2_uc001gky.1_Missense_Mutation_p.G101E|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 101 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GACACTGAAGGAAATGCTGTG 0.567 45 80 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176526002 176526002 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:176526002G>A uc001gkz.2 + 2 1708 c.544G>A c.(544-546)GAA>AAA p.E182K PAPPA2_uc001gky.1_Missense_Mutation_p.E182K|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 182 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 AACCCTGAACGAACCCAAACC 0.587 24 56 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176640121 176640121 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:176640121G>A uc001gkz.2 + 4 3171 c.2007G>A c.(2005-2007)GTG>GTA p.V669V PAPPA2_uc001gky.1_Silent_p.V669V|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 669 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 ACATGAGTGTGAAGGAGCTGA 0.483 29 124 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176661375 176661375 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:176661375C>T uc001gkz.2 + 6 3709 c.2545C>T c.(2545-2547)CCA>TCA p.P849S PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 849 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CATCCCCATTCCACCTATGGT 0.512 57 90 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176709183 176709183 + Silent SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:176709183T>A uc001gkz.2 + 14 5166 c.4002T>A c.(4000-4002)CTT>CTA p.L1334L PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1334 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 AGAATGTCCTTTTCCACCATA 0.483 21 76 --- --- --- --- PASS ASTN1 460 broad.mit.edu 37 1 176992577 176992577 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:176992577G>A uc001glc.2 - 7 1613 c.1401C>T c.(1399-1401)CTC>CTT p.L467L ASTN1_uc001glb.1_Silent_p.L467L|ASTN1_uc001gld.1_Silent_p.L467L|ASTN1_uc009wwx.1_Silent_p.L467L|ASTN1_uc001gle.3_RNA NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 467 EGF-like 1. cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 AGGGGTCCAGGAGCCGCCGGG 0.612 4 14 --- --- --- --- PASS ANGPTL1 9068 broad.mit.edu 37 1 178820370 178820370 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:178820370C>T uc001gma.2 - 6 1846 c.1370G>A c.(1369-1371)GGA>GAA p.G457E RALGPS2_uc001gly.1_Intron|RALGPS2_uc001glz.2_Intron|RALGPS2_uc010pnb.1_Intron|ANGPTL1_uc001gmb.2_Missense_Mutation_p.G457E NM_004673 NP_004664 O95841 ANGL1_HUMAN angiopoietin-like 1 precursor 457 Fibrinogen C-terminal. extracellular space receptor binding 0 GTAATGGCCTCCTCTGTACCA 0.453 26 36 --- --- --- --- PASS ANGPTL1 9068 broad.mit.edu 37 1 178820371 178820371 + Nonsense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:178820371C>A uc001gma.2 - 6 1845 c.1369G>T c.(1369-1371)GGA>TGA p.G457* RALGPS2_uc001gly.1_Intron|RALGPS2_uc001glz.2_Intron|RALGPS2_uc010pnb.1_Intron|ANGPTL1_uc001gmb.2_Nonsense_Mutation_p.G457* NM_004673 NP_004664 O95841 ANGL1_HUMAN angiopoietin-like 1 precursor 457 Fibrinogen C-terminal. extracellular space receptor binding 0 TAATGGCCTCCTCTGTACCAT 0.453 26 36 --- --- --- --- PASS ANGPTL1 9068 broad.mit.edu 37 1 178822871 178822871 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:178822871C>T uc001gma.2 - 4 1351 c.875G>A c.(874-876)GGG>GAG p.G292E RALGPS2_uc001gly.1_Intron|RALGPS2_uc001glz.2_Intron|RALGPS2_uc010pnb.1_Intron|ANGPTL1_uc001gmb.2_Missense_Mutation_p.G292E|ANGPTL1_uc010pnc.1_Missense_Mutation_p.G214E NM_004673 NP_004664 O95841 ANGL1_HUMAN angiopoietin-like 1 precursor 292 Fibrinogen C-terminal. extracellular space receptor binding 0 CATATAAATCCCACTGACCGA 0.373 17 40 --- --- --- --- PASS ABL2 27 broad.mit.edu 37 1 179087825 179087825 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:179087825G>A uc001gmj.3 - 7 1407 c.1120C>T c.(1120-1122)CGA>TGA p.R374* ABL2_uc010pnf.1_Nonsense_Mutation_p.R374*|ABL2_uc010png.1_Nonsense_Mutation_p.R353*|ABL2_uc010pnh.1_Nonsense_Mutation_p.R353*|ABL2_uc009wxe.2_Nonsense_Mutation_p.R353*|ABL2_uc001gmg.3_Nonsense_Mutation_p.R359*|ABL2_uc001gmi.3_Nonsense_Mutation_p.R359*|ABL2_uc001gmh.3_Nonsense_Mutation_p.R338*|ABL2_uc010pne.1_Nonsense_Mutation_p.R338*|ABL2_uc009wxf.1_Nonsense_Mutation_p.R359*|ABL2_uc001gmk.2_Nonsense_Mutation_p.R338* NM_007314 NP_009298 P42684 ABL2_HUMAN arg tyrosine kinase isoform b 374 Protein kinase. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(8)|breast(3)|ovary(2)|central_nervous_system(1) 14 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) TTGCATTCTCGGAGGTAATCC 0.428 T ETV6 AML 16 64 --- --- --- --- PASS C1orf125 126859 broad.mit.edu 37 1 179414223 179414223 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:179414223A>T uc001gmo.2 + 16 1809 c.1682A>T c.(1681-1683)AAT>ATT p.N561I C1orf125_uc009wxg.2_Intron|C1orf125_uc001gmn.1_Missense_Mutation_p.N349I|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.N561I NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN hypothetical protein LOC126859 isoform 1 561 0 GGGATATTTAATCGGCATAAA 0.363 19 55 --- --- --- --- PASS NPHS2 7827 broad.mit.edu 37 1 179520325 179520325 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:179520325C>T uc001gmq.3 - 8 1220 c.1135G>A c.(1135-1137)GAC>AAC p.D379N C1orf125_uc009wxg.2_Intron|C1orf125_uc001gmo.2_Intron|C1orf125_uc001gmp.2_Intron|C1orf125_uc009wxh.2_Intron|NPHS2_uc009wxi.2_Missense_Mutation_p.D311N|C1orf125_uc001gmr.2_RNA NM_014625 NP_055440 Q9NP85 PODO_HUMAN podocin 379 Cytoplasmic (Potential). excretion integral to plasma membrane protein binding 0 ATGGGAGAGTCTTTCTTTTTA 0.493 9 20 --- --- --- --- PASS TDRD5 163589 broad.mit.edu 37 1 179659939 179659939 + Nonsense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:179659939T>A uc001gnf.1 + 17 3057 c.2807T>A c.(2806-2808)TTG>TAG p.L936* TDRD5_uc010pnp.1_Nonsense_Mutation_p.L990*|TDRD5_uc001gnh.1_Nonsense_Mutation_p.L491* NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 936 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 TCTTTGATTTTGTCTTATGAG 0.458 11 33 --- --- --- --- PASS QSOX1 5768 broad.mit.edu 37 1 180166160 180166160 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:180166160C>T uc001gnz.2 + 12 2307 c.2232C>T c.(2230-2232)CAC>CAT p.H744H QSOX1_uc001gny.2_Intron|QSOX1_uc001goa.2_Intron|QSOX1_uc001goc.2_Intron|FLJ23867_uc001god.3_5'Flank NM_002826 NP_002817 O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 isoform a 744 cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity ovary(1)|central_nervous_system(1) 2 ATGCTGGCCACCCTGCAGCCT 0.642 6 9 --- --- --- --- PASS CACNA1E 777 broad.mit.edu 37 1 181479711 181479711 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:181479711G>A uc001gow.2 + 2 530 c.365G>A c.(364-366)CGA>CAA p.R122Q CACNA1E_uc009wxr.2_Missense_Mutation_p.R29Q|CACNA1E_uc009wxs.2_Missense_Mutation_p.R29Q NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 122 I.|Extracellular (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 CCCATGTCCCGAAGACTGGTA 0.527 9 17 --- --- --- --- PASS CACNA1E 777 broad.mit.edu 37 1 181702138 181702138 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:181702138G>A uc001gow.2 + 20 3081 c.2916G>A c.(2914-2916)ACG>ACA p.T972T CACNA1E_uc009wxs.2_Silent_p.T860T|CACNA1E_uc001gox.1_Silent_p.T198T|CACNA1E_uc009wxt.2_Silent_p.T198T NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 972 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 AGGAGCCAACGATCCAAGAAG 0.552 9 15 --- --- --- --- PASS CACNA1E 777 broad.mit.edu 37 1 181753905 181753905 + Splice_Site SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:181753905G>A uc001gow.2 + 41 5743 c.5578_splice c.e41+1 p.A1860_splice CACNA1E_uc009wxs.2_Splice_Site_p.A1748_splice|CACNA1E_uc009wxt.2_Splice_Site_p.A1086_splice NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 ATGCCCAAAGGTTTGGGTCTT 0.522 4 6 --- --- --- --- PASS RGS8 85397 broad.mit.edu 37 1 182636100 182636100 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:182636100C>T uc010pnw.1 - 4 293 c.35G>A c.(34-36)GGG>GAG p.G12E RGS8_uc001gpn.1_Missense_Mutation_p.G12E|RGS8_uc001gpm.1_Missense_Mutation_p.G30E NM_001102450 NP_001095920 P57771 RGS8_HUMAN regulator of G-protein signalling 8 isoform 2 12 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(1) 1 AGTCCTCATCCCTTTGTTCCT 0.537 15 48 --- --- --- --- PASS LAMC1 3915 broad.mit.edu 37 1 183087213 183087213 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:183087213C>T uc001gpy.3 + 11 2179 c.1922C>T c.(1921-1923)CCT>CTT p.P641L NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 641 Laminin IV type A. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCTCTTACCCCTTTTGAATTT 0.423 13 40 --- --- --- --- PASS RGL1 23179 broad.mit.edu 37 1 183852930 183852930 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:183852930C>T uc001gqo.2 + 6 778 c.621C>T c.(619-621)CCC>CCT p.P207P RGL1_uc010pof.1_Silent_p.P12P|RGL1_uc001gqm.2_Silent_p.P242P|RGL1_uc010pog.1_Silent_p.P205P|RGL1_uc010poh.1_Silent_p.P205P|RGL1_uc010poi.1_Silent_p.P207P NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation 207 cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|ovary(4)|lung(2) 11 ATGGGCTTCCCAACACGATCT 0.458 15 39 --- --- --- --- PASS GLT25D2 23127 broad.mit.edu 37 1 183944313 183944313 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:183944313G>T uc001gqr.2 - 3 782 c.410C>A c.(409-411)CCA>CAA p.P137Q GLT25D2_uc010poj.1_Missense_Mutation_p.P137Q|GLT25D2_uc001gqs.2_Missense_Mutation_p.P17Q NM_015101 NP_055916 Q8IYK4 GT252_HUMAN glycosyltransferase 25 domain containing 2 137 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity ovary(1)|breast(1) 2 CCGGGAGGTTGGCCAGTGCTT 0.328 15 22 --- --- --- --- PASS FAM129A 116496 broad.mit.edu 37 1 184765127 184765127 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:184765127C>A uc001gra.2 - 14 1965 c.1771G>T c.(1771-1773)GGG>TGG p.G591W FAM129A_uc001grb.1_Missense_Mutation_p.G354W NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN niban protein isoform 2 591 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane ovary(3)|skin(1) 4 TGGTTTGACCCTGTGGGGGGC 0.498 25 33 --- --- --- --- PASS FAM129A 116496 broad.mit.edu 37 1 184853813 184853813 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:184853813C>T uc001gra.2 - 5 749 c.555G>A c.(553-555)AAG>AAA p.K185K FAM129A_uc009wyh.1_Intron|FAM129A_uc009wyi.1_Intron NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN niban protein isoform 2 185 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane ovary(3)|skin(1) 4 CACTAAACCTCTTCTGGTCAG 0.607 14 17 --- --- --- --- PASS IVNS1ABP 10625 broad.mit.edu 37 1 185267192 185267192 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:185267192G>A uc001grl.2 - 15 2527 c.1904C>T c.(1903-1905)CCC>CTC p.P635L IVNS1ABP_uc001gri.2_Missense_Mutation_p.P295L|IVNS1ABP_uc001grj.2_Missense_Mutation_p.P295L|IVNS1ABP_uc009wyj.2_Missense_Mutation_p.P417L|IVNS1ABP_uc009wyk.2_RNA NM_006469 NP_006460 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 635 Kelch 6. interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex ovary(4)|central_nervous_system(1) 5 CTTTGTATAGGGGCTCCATTC 0.383 21 72 --- --- --- --- PASS HMCN1 83872 broad.mit.edu 37 1 186039829 186039829 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:186039829C>T uc001grq.1 + 52 8308 c.8079C>T c.(8077-8079)ACC>ACT p.T2693T NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 2693 Ig-like C2-type 25. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 ACACTCTGACCTTGGAATGTG 0.423 24 35 --- --- --- --- PASS PRG4 10216 broad.mit.edu 37 1 186277347 186277347 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:186277347G>A uc001gru.3 + 7 2547 c.2496G>A c.(2494-2496)AAG>AAA p.K832K PRG4_uc001grt.3_Silent_p.K791K|PRG4_uc009wyl.2_Silent_p.K739K|PRG4_uc009wym.2_Silent_p.K698K|PRG4_uc010poo.1_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 832 59 X 8 AA repeats of K-X-P-X-P-T-T-X.|57. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CTACCCCCAAGGAGCCTGCAC 0.582 62 165 --- --- --- --- PASS TPR 7175 broad.mit.edu 37 1 186300714 186300714 + Splice_Site SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:186300714C>T uc001grv.2 - 39 5902 c.5605_splice c.e39-1 p.E1869_splice NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TAACTTCTTCCTGTATCATAA 0.343 T NTRK1 papillary thyroid 9 32 --- --- --- --- PASS RGS13 6003 broad.mit.edu 37 1 192628569 192628569 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:192628569G>A uc001gsj.2 + 7 677 c.396G>A c.(394-396)ATG>ATA p.M132I RGS13_uc001gsk.2_Missense_Mutation_p.M132I NM_002927 NP_002918 O14921 RGS13_HUMAN regulator of G-protein signalling 13 132 RGS. plasma membrane GTPase activator activity|signal transducer activity 0 ATATGCATATGGAAAGGGATT 0.363 10 27 --- --- --- --- PASS RGS13 6003 broad.mit.edu 37 1 192628570 192628570 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:192628570G>A uc001gsj.2 + 7 678 c.397G>A c.(397-399)GAA>AAA p.E133K RGS13_uc001gsk.2_Missense_Mutation_p.E133K NM_002927 NP_002918 O14921 RGS13_HUMAN regulator of G-protein signalling 13 133 RGS. plasma membrane GTPase activator activity|signal transducer activity 0 TATGCATATGGAAAGGGATTC 0.363 10 28 --- --- --- --- PASS TROVE2 6738 broad.mit.edu 37 1 193051315 193051315 + Splice_Site SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:193051315G>T uc001gss.2 + 7 1379 c.1204_splice c.e7-1 p.V402_splice TROVE2_uc001gst.1_Splice_Site_p.V127_splice|TROVE2_uc001gsu.1_Splice_Site_p.V127_splice|TROVE2_uc001gsv.1_Splice_Site_p.V402_splice|TROVE2_uc001gsw.2_Splice_Site_p.V402_splice|TROVE2_uc009wyp.2_Splice_Site_p.V402_splice|TROVE2_uc009wyq.2_Splice_Site_p.V402_splice|TROVE2_uc001gsx.1_Splice_Site_p.V402_splice NM_004600 NP_004591 P10155 RO60_HUMAN TROVE domain family, member 2 isoform 2 transcription from RNA polymerase III promoter cytoplasm|nucleus|ribonucleoprotein complex protein binding|RNA binding 0 GAATTTTTCAGGTTGTCACAC 0.323 4 48 --- --- --- --- PASS GLRX2 51022 broad.mit.edu 37 1 193070287 193070287 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:193070287G>T uc001gsz.1 - 2 211 c.167C>A c.(166-168)CCT>CAT p.P56H GLRX2_uc001gta.1_Missense_Mutation_p.P57H NM_197962 NP_932066 Q9NS18 GLRX2_HUMAN glutaredoxin 2 isoform 2 56 apoptosis|cell differentiation|cell redox homeostasis|DNA protection|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport mitochondrion|nucleus 2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity 0 Glutathione(DB00143) CTGGTTCACAGGCGCCGTCGC 0.333 4 38 --- --- --- --- PASS CFH 3075 broad.mit.edu 37 1 196658568 196658568 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:196658568C>T uc001gtj.3 + 8 1223 c.983C>T c.(982-984)CCA>CTA p.P328L CFH_uc001gti.3_Missense_Mutation_p.P328L|CFH_uc009wyw.2_Intron|CFH_uc009wyx.2_Missense_Mutation_p.P264L NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 328 Sushi 6. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 TGTGATTATCCAGACATTAAA 0.269 6 18 --- --- --- --- PASS CFH 3075 broad.mit.edu 37 1 196706613 196706613 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:196706613C>T uc001gtj.3 + 17 2845 c.2605C>T c.(2605-2607)CCA>TCA p.P869S NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 869 Sushi 15. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 AGAAAAAATTCCATGTTCACA 0.294 8 10 --- --- --- --- PASS CFHR2 3080 broad.mit.edu 37 1 196920100 196920100 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:196920100G>A uc001gtq.1 + 3 449 c.372G>A c.(370-372)GAG>GAA p.E124E CFHR2_uc001gtr.1_Intron NM_005666 NP_005657 P36980 FHR2_HUMAN H factor (complement)-like 3 precursor 124 Sushi 2. extracellular region skin(2)|ovary(1) 3 AAAACAATGAGAACAACATTT 0.393 9 37 --- --- --- --- PASS ASPM 259266 broad.mit.edu 37 1 197059368 197059368 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:197059368A>T uc001gtu.2 - 24 10044 c.9787T>A c.(9787-9789)TAT>AAT p.Y3263N ASPM_uc001gtv.2_Missense_Mutation_p.Y1678N|ASPM_uc001gtw.3_Missense_Mutation_p.Y1111N NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 3263 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 AGGTGCTTATATGTCAAAAGG 0.333 12 46 --- --- --- --- PASS ASPM 259266 broad.mit.edu 37 1 197099062 197099062 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:197099062G>A uc001gtu.2 - 8 2869 c.2612C>T c.(2611-2613)CCT>CTT p.P871L ASPM_uc001gtv.2_Missense_Mutation_p.P871L|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 871 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 ATACAGGTGAGGAACAGTGGG 0.279 17 46 --- --- --- --- PASS ASPM 259266 broad.mit.edu 37 1 197099063 197099063 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:197099063G>A uc001gtu.2 - 8 2868 c.2611C>T c.(2611-2613)CCT>TCT p.P871S ASPM_uc001gtv.2_Missense_Mutation_p.P871S|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 871 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TACAGGTGAGGAACAGTGGGG 0.279 17 46 --- --- --- --- PASS CRB1 23418 broad.mit.edu 37 1 197297777 197297777 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:197297777C>T uc001gtz.2 + 2 431 c.296C>T c.(295-297)CCT>CTT p.P99L CRB1_uc010poz.1_Missense_Mutation_p.P30L|CRB1_uc001gty.1_Missense_Mutation_p.P99L|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.P99L|CRB1_uc010ppb.1_Missense_Mutation_p.P99L NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 99 Extracellular (Potential).|EGF-like 2. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 TGCAAATGTCCTCCTGGGTAC 0.488 8 25 --- --- --- --- PASS CRB1 23418 broad.mit.edu 37 1 197390651 197390651 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:197390651G>A uc001gtz.2 + 6 1828 c.1693G>A c.(1693-1695)GGA>AGA p.G565R CRB1_uc010poz.1_Missense_Mutation_p.G496R|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.G453R|CRB1_uc010ppb.1_Missense_Mutation_p.G565R|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.G46R|CRB1_uc001gub.1_Missense_Mutation_p.G214R NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 565 Extracellular (Potential).|Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 CACCAGCGATGGAGAGTGGCA 0.463 32 60 --- --- --- --- PASS CRB1 23418 broad.mit.edu 37 1 197404159 197404159 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:197404159G>A uc001gtz.2 + 9 3301 c.3166G>A c.(3166-3168)GAC>AAC p.D1056N CRB1_uc010poz.1_Missense_Mutation_p.D1032N|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.D944N|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.D537N|CRB1_uc001gub.1_Missense_Mutation_p.D705N NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 1056 Extracellular (Potential).|Laminin G-like 3. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 AATGGAAGTGGACAACGAAAC 0.458 19 50 --- --- --- --- PASS DENND1B 163486 broad.mit.edu 37 1 197479786 197479786 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:197479786G>A uc010ppe.1 - 22 2410 c.2072C>T c.(2071-2073)TCA>TTA p.S691L DENND1B_uc010ppf.1_RNA NM_001142795 NP_001136267 Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B isoform 1 Error:Variant_position_missing_in_Q6P3S1_after_alignment clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity 0 CAGATCATCTGAAATCTGGCT 0.443 16 42 --- --- --- --- PASS DENND1B 163486 broad.mit.edu 37 1 197479927 197479927 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:197479927T>C uc010ppe.1 - 22 2269 c.1931A>G c.(1930-1932)AAA>AGA p.K644R DENND1B_uc010ppf.1_RNA NM_001142795 NP_001136267 Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B isoform 1 Error:Variant_position_missing_in_Q6P3S1_after_alignment clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity 0 GTTTTCCTCTTTCAGGATAAA 0.493 20 32 --- --- --- --- PASS PTPRC 5788 broad.mit.edu 37 1 198723441 198723441 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:198723441C>T uc001gur.1 + 32 3727 c.3547C>T c.(3547-3549)CTC>TTC p.L1183F PTPRC_uc001gus.1_Missense_Mutation_p.L1135F|PTPRC_uc001gut.1_Missense_Mutation_p.L1022F NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1183 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 TTTGTTAAATCTCTTAGAAAG 0.373 12 40 --- --- --- --- PASS KIF14 9928 broad.mit.edu 37 1 200569565 200569565 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:200569565C>T uc010ppk.1 - 12 2658 c.2219G>A c.(2218-2220)CGA>CAA p.R740Q KIF14_uc010ppj.1_Missense_Mutation_p.R249Q NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 740 Potential. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 GAGCCTGTATCGTTCAGGGTC 0.388 37 55 --- --- --- --- PASS CACNA1S 779 broad.mit.edu 37 1 201061124 201061124 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:201061124G>T uc001gvv.2 - 4 744 c.517C>A c.(517-519)CTC>ATC p.L173I NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 173 Helical; Name=S4 of repeat I; (Potential).|I. axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) ACCAGCCGGAGGGGTCTGAGC 0.612 4 38 --- --- --- --- PASS GPR37L1 9283 broad.mit.edu 37 1 202092462 202092462 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:202092462C>T uc001gxj.2 + 1 434 c.371C>T c.(370-372)ACC>ATC p.T124I NM_004767 NP_004758 O60883 ETBR2_HUMAN G-protein coupled receptor 37 like 1 precursor 124 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|central_nervous_system(1) 2 TATCCGGTGACCGAGAGCTCC 0.602 7 27 --- --- --- --- PASS KDM5B 10765 broad.mit.edu 37 1 202705412 202705412 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:202705412C>T uc001gyf.2 - 21 3309 c.3193G>A c.(3193-3195)GAG>AAG p.E1065K KDM5B_uc009xag.2_Missense_Mutation_p.E1101K|KDM5B_uc001gyg.1_Missense_Mutation_p.E907K NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 1065 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 GCCTGAACCTCAGCTACTAGG 0.433 7 39 --- --- --- --- PASS FMOD 2331 broad.mit.edu 37 1 203317278 203317278 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:203317278G>A uc001gzr.2 - 2 257 c.121C>T c.(121-123)CCC>TCC p.P41S FMOD_uc010pqi.1_RNA NM_002023 NP_002014 Q06828 FMOD_HUMAN fibromodulin precursor 41 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix ovary(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.171) GGGTCATAGGGATCGTAGTAG 0.597 9 39 --- --- --- --- PASS RBBP5 5929 broad.mit.edu 37 1 205068920 205068920 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:205068920G>A uc001hbu.1 - 9 1057 c.927C>T c.(925-927)ATC>ATT p.I309I RBBP5_uc010prd.1_Silent_p.I344I|RBBP5_uc001hbv.1_Silent_p.I309I|RBBP5_uc010pre.1_Silent_p.I176I NM_005057 NP_005048 Q15291 RBBP5_HUMAN retinoblastoma binding protein 5 309 WD 6. histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent MLL1 complex|Set1C/COMPASS complex methylated histone residue binding|transcription regulatory region DNA binding lung(1) 1 Breast(84;0.0505) BRCA - Breast invasive adenocarcinoma(75;0.0923) TGGATGCTATGATGGGTCGAA 0.353 28 60 --- --- --- --- PASS RBBP5 5929 broad.mit.edu 37 1 205068922 205068922 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:205068922T>A uc001hbu.1 - 9 1055 c.925A>T c.(925-927)ATC>TTC p.I309F RBBP5_uc010prd.1_Missense_Mutation_p.I344F|RBBP5_uc001hbv.1_Missense_Mutation_p.I309F|RBBP5_uc010pre.1_Missense_Mutation_p.I176F NM_005057 NP_005048 Q15291 RBBP5_HUMAN retinoblastoma binding protein 5 309 WD 6. histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent MLL1 complex|Set1C/COMPASS complex methylated histone residue binding|transcription regulatory region DNA binding lung(1) 1 Breast(84;0.0505) BRCA - Breast invasive adenocarcinoma(75;0.0923) GATGCTATGATGGGTCGAACA 0.353 29 59 --- --- --- --- PASS NUAK2 81788 broad.mit.edu 37 1 205272892 205272892 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:205272892C>T uc001hce.2 - 7 1700 c.1573G>A c.(1573-1575)GAT>AAT p.D525N NM_030952 NP_112214 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 525 actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|stomach(1)|breast(1) 5 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) GCGAGTTCATCCAGGGAGCCG 0.642 12 12 --- --- --- --- PASS CDK18 5129 broad.mit.edu 37 1 205499823 205499823 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:205499823C>T uc001hcr.2 + 15 1689 c.1470C>T c.(1468-1470)TTC>TTT p.F490F CDK18_uc001hcp.2_Silent_p.F460F|CDK18_uc001hcq.2_Silent_p.F460F|CDK18_uc010prj.1_Silent_p.F371F|CDK18_uc001hcs.2_Silent_p.F371F|CDK18_uc001hct.2_RNA NM_212503 NP_997668 Q07002 CDK18_HUMAN PCTAIRE protein kinase 3 isoform a 458 ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity stomach(2) 2 GCTTGGCCTTCCAGCAGCCAG 0.637 5 18 --- --- --- --- PASS SLC45A3 85414 broad.mit.edu 37 1 205632640 205632640 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:205632640G>A uc001hda.1 - 3 618 c.279C>T c.(277-279)TCC>TCT p.S93S SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'UTR|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron NM_033102 NP_149093 Q96JT2 S45A3_HUMAN prostein 93 Helical; Name=3; (Potential). transmembrane transport integral to membrane SLC45A3/BRAF(2) ovary(2)|prostate(2) 4 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) GGATGCCCAAGGACAGTGCCC 0.672 T ETV1|ETV5|ELK4|ERG prostate 8 13 --- --- --- --- PASS SRGAP2 23380 broad.mit.edu 37 1 206634422 206634422 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:206634422G>T uc001hdy.2 + 20 2945 c.2612G>T c.(2611-2613)CGG>CTG p.R871L SRGAP2_uc010pru.1_Missense_Mutation_p.R794L NM_015326 NP_056141 O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 958 Potential. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding 0 Breast(84;0.137) AATGAGCTACGGGAACTAGAA 0.557 4 46 --- --- --- --- PASS PIGR 5284 broad.mit.edu 37 1 207110615 207110615 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:207110615G>A uc001hez.2 - 4 1054 c.870C>T c.(868-870)GCC>GCT p.A290A PIGR_uc009xbz.2_Silent_p.A290A NM_002644 NP_002635 P01833 PIGR_HUMAN polymeric immunoglobulin receptor precursor 290 Ig-like V-type 3.|Extracellular (Potential). extracellular region|integral to plasma membrane protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 CAAAGGCTGGGGCCCTCTTCC 0.607 17 28 --- --- --- --- PASS FCAMR 83953 broad.mit.edu 37 1 207140980 207140980 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:207140980C>T uc001hfa.3 - 2 556 c.56G>A c.(55-57)GGA>GAA p.G19E FCAMR_uc001hfb.2_Missense_Mutation_p.G19E|FCAMR_uc009xca.1_Missense_Mutation_p.G19E|FCAMR_uc001hfc.2_Intron NM_001122980 NP_001116452 Q8WWV6 FCAMR_HUMAN Fc receptor, IgA, IgM, high affinity isoform 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment integral to membrane|plasma membrane receptor activity ovary(1) 1 CACTTCTCTTCCTCTCCTCAC 0.249 20 79 --- --- --- --- PASS C4BPA 722 broad.mit.edu 37 1 207307914 207307914 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:207307914C>T uc001hfo.2 + 9 1444 c.1250C>T c.(1249-1251)CCC>CTC p.P417L NM_000715 NP_000706 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 417 Sushi 6. complement activation, classical pathway|innate immune response extracellular region protein binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 ACGTGGAGTCCCCGAACACCA 0.393 24 61 --- --- --- --- PASS CR1 1378 broad.mit.edu 37 1 207791529 207791529 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:207791529G>A uc001hfy.2 + 34 5793 c.5653G>A c.(5653-5655)GGA>AGA p.G1885R CR1_uc001hfx.2_Missense_Mutation_p.G2335R NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 1885 Sushi 29.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 CCTGTTAGTGGGAAAGGGCTT 0.443 29 102 --- --- --- --- PASS PLXNA2 5362 broad.mit.edu 37 1 208212981 208212981 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:208212981G>A uc001hgz.2 - 24 5243 c.4485C>T c.(4483-4485)ATC>ATT p.I1495I NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 1495 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) TCTTGTACTCGATCTGCTGCC 0.587 23 40 --- --- --- --- PASS MIR205 406988 broad.mit.edu 37 1 209605512 209605512 + RNA SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:209605512C>T hsa-mir-205|MI0000285 + c.35C>T LOC642587_uc009xcn.2_Intron|LOC642587_uc010psk.1_RNA 0 CTTCTCTTGTCCTTCATTCCA 0.463 15 35 --- --- --- --- PASS TRAF3IP3 80342 broad.mit.edu 37 1 209935985 209935985 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:209935985G>A uc001hho.2 + 4 761 c.471G>A c.(469-471)AAG>AAA p.K157K TRAF3IP3_uc001hhl.2_Silent_p.K137K|TRAF3IP3_uc001hhm.1_Silent_p.K157K|TRAF3IP3_uc001hhn.2_Silent_p.K137K|TRAF3IP3_uc009xcr.2_Silent_p.K157K NM_025228 NP_079504 Q9Y228 T3JAM_HUMAN TRAF3-interacting JNK-activating modulator 157 Cytoplasmic (Potential). integral to membrane protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.045) CTCCCATCAAGAAGCCACCCA 0.597 13 33 --- --- --- --- PASS LPGAT1 9926 broad.mit.edu 37 1 211961039 211961039 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:211961039G>A uc001hiu.2 - 4 1201 c.388C>T c.(388-390)CAT>TAT p.H130Y LPGAT1_uc001hiv.2_Missense_Mutation_p.H130Y NM_014873 NP_055688 Q92604 LGAT1_HUMAN lysophosphatidylglycerol acyltransferase 1 130 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114) TTAAAAATATGATCCATCAAC 0.348 10 28 --- --- --- --- PASS PROX1 5629 broad.mit.edu 37 1 214171001 214171001 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:214171001C>T uc001hkh.2 + 2 1395 c.1123C>T c.(1123-1125)CCC>TCC p.P375S PROX1_uc001hkg.1_Missense_Mutation_p.P375S NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 375 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) TTCGGCCAAGCCCTCCCGCCA 0.542 12 48 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215821889 215821889 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:215821889G>A uc001hku.1 - 66 14950 c.14563C>T c.(14563-14565)CCC>TCC p.P4855S NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4855 Extracellular (Potential).|Fibronectin type-III 34. 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) ACACCATTGGGGAACATGGGG 0.493 HNSCC(13;0.011) 25 33 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215955428 215955428 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:215955428G>A uc001hku.1 - 54 11083 c.10696C>T c.(10696-10698)CAG>TAG p.Q3566* NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3566 Extracellular (Potential).|Fibronectin type-III 20. 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) GCTTTCAGCTGATATGAATAT 0.433 HNSCC(13;0.011) 13 44 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215960216 215960216 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:215960216C>T uc001hku.1 - 52 10570 c.10183G>A c.(10183-10185)GAA>AAA p.E3395K NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3395 Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCTTTGGTTTCCTGAGTCAAG 0.433 HNSCC(13;0.011) 5 14 --- --- --- --- PASS RAB3GAP2 25782 broad.mit.edu 37 1 220384317 220384317 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:220384317G>A uc010puk.1 - 5 578 c.414C>T c.(412-414)ATC>ATT p.I138I RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_5'UTR|RAB3GAP2_uc010pum.1_Silent_p.I138I NM_012414 NP_036546 Q9H2M9 RBGPR_HUMAN rab3 GTPase-activating protein, non-catalytic 138 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(131;0.0443) TTGCTAGTGGGATACATAGAG 0.313 5 17 --- --- --- --- PASS HHIPL2 79802 broad.mit.edu 37 1 222712088 222712088 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:222712088G>A uc001hnh.1 - 5 1537 c.1479C>T c.(1477-1479)GGC>GGT p.G493G NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 493 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) CCACTGCATGGCCATAAGCAT 0.473 8 36 --- --- --- --- PASS TAF1A 9015 broad.mit.edu 37 1 222742992 222742992 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:222742992C>T uc009xdz.1 - 7 943 c.754G>A c.(754-756)GAT>AAT p.D252N TAF1A_uc001hni.1_Missense_Mutation_p.D138N|TAF1A_uc001hnj.2_Missense_Mutation_p.D252N|TAF1A_uc001hnk.2_Missense_Mutation_p.D138N|TAF1A_uc010pur.1_Missense_Mutation_p.D252N NM_139352 NP_647603 Q15573 TAF1A_HUMAN TBP-associated factor 1A isoform 2 252 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) CCATCTCGATCCCCATAGAAT 0.333 11 17 --- --- --- --- PASS TAF1A 9015 broad.mit.edu 37 1 222742994 222742994 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:222742994C>T uc009xdz.1 - 7 941 c.752G>A c.(751-753)GGG>GAG p.G251E TAF1A_uc001hni.1_Missense_Mutation_p.G137E|TAF1A_uc001hnj.2_Missense_Mutation_p.G251E|TAF1A_uc001hnk.2_Missense_Mutation_p.G137E|TAF1A_uc010pur.1_Missense_Mutation_p.G251E NM_139352 NP_647603 Q15573 TAF1A_HUMAN TBP-associated factor 1A isoform 2 251 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) ATCTCGATCCCCATAGAATTC 0.333 12 17 --- --- --- --- PASS DISP1 84976 broad.mit.edu 37 1 223178588 223178588 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:223178588C>T uc001hnu.1 + 8 3996 c.3849C>T c.(3847-3849)GGC>GGT p.G1283G NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 1283 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) TGAACTATGGCCCACACTCTT 0.532 36 59 --- --- --- --- PASS LBR 3930 broad.mit.edu 37 1 225607146 225607146 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:225607146G>A uc001hoy.2 - 5 602 c.459C>T c.(457-459)TTC>TTT p.F153F LBR_uc001hoz.2_Silent_p.F153F|LBR_uc001hpa.1_Silent_p.F153F NM_002296 NP_002287 Q14739 LBR_HUMAN lamin B receptor 153 Nucleoplasmic (Potential). cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity ovary(1)|skin(1) 2 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) GTGACAAACTGAATTTTTCCT 0.294 7 22 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228402727 228402727 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:228402727C>T uc009xez.1 + 5 1800 c.1756C>T c.(1756-1758)CAG>TAG p.Q586* OBSCN_uc001hsn.2_Nonsense_Mutation_p.Q586*|uc001hsm.1_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 586 Fibronectin type-III 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GGGGAACTTCCAGTTCCGAGT 0.587 8 16 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228479641 228479641 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:228479641C>T uc009xez.1 + 39 10426 c.10382C>T c.(10381-10383)GCC>GTC p.A3461V OBSCN_uc001hsn.2_Missense_Mutation_p.A3461V|OBSCN_uc001hsq.1_Missense_Mutation_p.A717V NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 3461 Ig-like 35. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) AATGAAGAGGCCGTGGAAGGG 0.587 17 34 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228509746 228509746 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:228509746C>T uc009xez.1 + 55 15248 c.15204C>T c.(15202-15204)GCC>GCT p.A5068A OBSCN_uc001hsn.2_Silent_p.A5068A NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 5068 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) TCACTGAGGCCCGCCAGGCGG 0.607 5 10 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228553854 228553854 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:228553854G>A uc009xez.1 + 83 19187 c.19143G>A c.(19141-19143)GAG>GAA p.E6381E OBSCN_uc001hsr.1_Silent_p.E1010E NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 6381 Ig-like 54. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CTATCATTGAGGGCGACCCAC 0.652 8 28 --- --- --- --- PASS HIST3H2A 92815 broad.mit.edu 37 1 228645439 228645439 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:228645439G>A uc001hsy.2 - 1 122 c.80C>T c.(79-81)CCC>CTC p.P27L HIST3H2BB_uc001hsz.2_5'Flank NM_033445 NP_254280 Q7L7L0 H2A3_HUMAN histone cluster 3, H2a 27 nucleosome assembly nucleosome|nucleus DNA binding ovary(1) 1 Prostate(94;0.183) GCGGCCCACGGGGAACTGCAG 0.667 5 15 --- --- --- --- PASS ABCB10 23456 broad.mit.edu 37 1 229663027 229663027 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:229663027G>A uc001htp.3 - 9 1717 c.1674C>T c.(1672-1674)ATC>ATT p.I558I NM_012089 NP_036221 Q9NRK6 ABCBA_HUMAN ATP-binding cassette, sub-family B, member 10 558 Mitochondrial intermembrane (Potential).|ABC transporter.|Mitochondrial matrix (Potential). IRQLNP -> NPSAKPS (in Ref. 6; AAA84438). integral to mitochondrial membrane|mitochondrial inner membrane ATP binding|oligopeptide-transporting ATPase activity breast(2) 2 Breast(184;0.143)|Ovarian(103;0.249) Prostate(94;0.167) TTAGCTGACGGATGTCATGGC 0.428 29 63 --- --- --- --- PASS ABCB10 23456 broad.mit.edu 37 1 229676480 229676480 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:229676480C>T uc001htp.3 - 5 1119 c.1076G>A c.(1075-1077)GGA>GAA p.G359E NM_012089 NP_036221 Q9NRK6 ABCBA_HUMAN ATP-binding cassette, sub-family B, member 10 359 Mitochondrial intermembrane (Potential).|Mitochondrial matrix (Potential).|ABC transmembrane type-1. integral to mitochondrial membrane|mitochondrial inner membrane ATP binding|oligopeptide-transporting ATPase activity breast(2) 2 Breast(184;0.143)|Ovarian(103;0.249) Prostate(94;0.167) TCTTACATTTCCAATACGTTC 0.388 12 36 --- --- --- --- PASS ABCB10 23456 broad.mit.edu 37 1 229676481 229676481 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:229676481C>T uc001htp.3 - 5 1118 c.1075G>A c.(1075-1077)GGA>AGA p.G359R NM_012089 NP_036221 Q9NRK6 ABCBA_HUMAN ATP-binding cassette, sub-family B, member 10 359 Mitochondrial intermembrane (Potential).|Mitochondrial matrix (Potential).|ABC transmembrane type-1. integral to mitochondrial membrane|mitochondrial inner membrane ATP binding|oligopeptide-transporting ATPase activity breast(2) 2 Breast(184;0.143)|Ovarian(103;0.249) Prostate(94;0.167) CTTACATTTCCAATACGTTCC 0.388 12 34 --- --- --- --- PASS ABCB10 23456 broad.mit.edu 37 1 229685173 229685173 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:229685173C>T uc001htp.3 - 2 569 c.526G>A c.(526-528)GGA>AGA p.G176R NM_012089 NP_036221 Q9NRK6 ABCBA_HUMAN ATP-binding cassette, sub-family B, member 10 176 Mitochondrial intermembrane (Potential).|ABC transmembrane type-1.|Helical; (Potential). integral to mitochondrial membrane|mitochondrial inner membrane ATP binding|oligopeptide-transporting ATPase activity breast(2) 2 Breast(184;0.143)|Ovarian(103;0.249) Prostate(94;0.167) GTGAGAAATCCAACCGCAGCT 0.498 4 11 --- --- --- --- PASS COG2 22796 broad.mit.edu 37 1 230827218 230827218 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:230827218C>T uc001htw.2 + 17 2174 c.2023C>T c.(2023-2025)CCC>TCC p.P675S COG2_uc001htx.2_Missense_Mutation_p.P674S|COG2_uc010pwc.1_Missense_Mutation_p.P548S NM_007357 NP_031383 Q14746 COG2_HUMAN component of oligomeric golgi complex 2 isoform 675 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity 0 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) AAAAACCACTCCCGCCAACCC 0.498 7 36 --- --- --- --- PASS TTC13 79573 broad.mit.edu 37 1 231069594 231069594 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:231069594G>A uc001huf.3 - 9 945 c.914C>T c.(913-915)TCC>TTC p.S305F TTC13_uc009xfi.2_Missense_Mutation_p.S252F|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.S252F|TTC13_uc009xfk.1_Missense_Mutation_p.S195F NM_024525 NP_078801 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 isoform a 305 TPR 4. binding ovary(1)|skin(1) 2 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) TTCTTTGAAGGATTCAATAGC 0.289 16 18 --- --- --- --- PASS PCNXL2 80003 broad.mit.edu 37 1 233150490 233150490 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:233150490G>A uc001hvl.2 - 28 5108 c.4873C>T c.(4873-4875)CCC>TCC p.P1625S PCNXL2_uc001hvk.1_Missense_Mutation_p.P277S|PCNXL2_uc001hvm.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 1625 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) GTCACCAAGGGAGAGTCCTCG 0.527 16 28 --- --- --- --- PASS LYST 1130 broad.mit.edu 37 1 235967923 235967923 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:235967923G>A uc001hxj.2 - 7 3611 c.3436C>T c.(3436-3438)CTT>TTT p.L1146F LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.L1146F NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 1146 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GACTGGGAAAGATGGTCCCTC 0.333 Chediak-Higashi_syndrome 20 39 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237540665 237540665 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:237540665G>A uc001hyl.1 + 8 626 c.506G>A c.(505-507)CGA>CAA p.R169Q NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 169 Cytoplasmic (By similarity). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TCTAAGCAGCGATCAGAAGGA 0.418 20 25 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237659980 237659980 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:237659980G>A uc001hyl.1 + 20 2251 c.2131G>A c.(2131-2133)GAA>AAA p.E711K NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 711 Cytoplasmic (By similarity).|B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGGAGGGGGCGAAGAGTGGGG 0.522 24 52 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237777985 237777985 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:237777985G>A uc001hyl.1 + 37 5677 c.5557G>A c.(5557-5559)GAA>AAA p.E1853K NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1853 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGTGTTTAAAGAAGCTGCCAC 0.517 6 23 --- --- --- --- PASS CHRM3 1131 broad.mit.edu 37 1 240071961 240071961 + Missense_Mutation SNP A C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:240071961A>C uc001hyp.2 + 5 1989 c.1210A>C c.(1210-1212)AAA>CAA p.K404Q NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 404 Cytoplasmic (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) CTTGGAGAGGAAAGCCGACAA 0.577 12 11 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240370099 240370099 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:240370099G>A uc010pyd.1 + 5 2212 c.1987G>A c.(1987-1989)GAA>AAA p.E663K FMN2_uc010pye.1_Missense_Mutation_p.E667K NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 663 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CGCCCTTCAGGAAGTTGTTGA 0.393 6 20 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240371850 240371850 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:240371850C>T uc010pyd.1 + 5 3963 c.3738C>T c.(3736-3738)CTC>CTT p.L1246L FMN2_uc010pye.1_Silent_p.L1250L NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1246 Pro-rich.|FH1. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CTCCACTCCTCCCACAAGTTG 0.567 8 26 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240371851 240371851 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:240371851C>T uc010pyd.1 + 5 3964 c.3739C>T c.(3739-3741)CCA>TCA p.P1247S FMN2_uc010pye.1_Missense_Mutation_p.P1251S NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1247 Pro-rich.|FH1. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TCCACTCCTCCCACAAGTTGG 0.562 9 27 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240497239 240497239 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:240497239T>A uc010pyd.1 + 12 4862 c.4637T>A c.(4636-4638)TTT>TAT p.F1546Y FMN2_uc010pye.1_Missense_Mutation_p.F1550Y|FMN2_uc010pyf.1_Missense_Mutation_p.F192Y|FMN2_uc010pyg.1_Missense_Mutation_p.F142Y NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1546 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CTCCGAAATTTTGATGAGGTA 0.294 7 19 --- --- --- --- PASS WDR64 128025 broad.mit.edu 37 1 241886653 241886653 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:241886653G>A uc001hze.1 + 9 1286 c.1079G>A c.(1078-1080)GGG>GAG p.G360E WDR64_uc001hzf.1_Missense_Mutation_p.G80E B1ANS9 WDR64_HUMAN RecName: Full=WD repeat-containing protein 64; 360 WD 3. skin(1) 1 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) AAGCCAGTAGGGAAACTTGTA 0.448 9 34 --- --- --- --- PASS WDR64 128025 broad.mit.edu 37 1 241953957 241953957 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:241953957G>A uc001hzf.1 + 14 1738 c.1585G>A c.(1585-1587)GAA>AAA p.E529K WDR64_uc001hzg.1_Missense_Mutation_p.E442K NM_144625 NP_653226 B1ANS9 WDR64_HUMAN WD repeat domain 64 976 skin(1) 1 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) CTTTGAAGTGGAACAGGATTT 0.348 13 72 --- --- --- --- PASS EXO1 9156 broad.mit.edu 37 1 242042543 242042543 + Missense_Mutation SNP A C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:242042543A>C uc001hzh.2 + 13 2547 c.2007A>C c.(2005-2007)GAA>GAC p.E669D EXO1_uc001hzi.2_Missense_Mutation_p.E669D|EXO1_uc001hzj.2_Missense_Mutation_p.E669D|EXO1_uc009xgq.2_Missense_Mutation_p.E668D NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 669 Interaction with MSH2. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) CCTTACGAGAAGAGGCATGTT 0.468 Direct_reversal_of_damage|Editing_and_processing_nucleases 20 38 --- --- --- --- PASS PLD5 200150 broad.mit.edu 37 1 242253243 242253243 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:242253243C>T uc001hzn.1 - 10 1651 c.1524G>A c.(1522-1524)CCG>CCA p.P508P PLD5_uc001hzl.3_Silent_p.P446P|PLD5_uc001hzm.3_Silent_p.P298P|PLD5_uc001hzo.1_Silent_p.P416P Q8N7P1 PLD5_HUMAN RecName: Full=Inactive phospholipase D5; Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc; 508 integral to membrane catalytic activity ovary(6) 6 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) TTGAGCAGTTCGGCTGTTTGG 0.453 30 78 --- --- --- --- PASS AKT3 10000 broad.mit.edu 37 1 243809233 243809233 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:243809233C>T uc001iab.1 - 4 472 c.391G>A c.(391-393)GAA>AAA p.E131K AKT3_uc001hzz.1_Missense_Mutation_p.E131K NM_005465 NP_005456 Q9Y243 AKT3_HUMAN AKT3 kinase isoform 1 131 signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) TCCATCTCTTCCTCTCCTATA 0.388 10 19 --- --- --- --- PASS SCCPDH 51097 broad.mit.edu 37 1 246922380 246922380 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:246922380C>T uc001ibr.2 + 7 1087 c.740C>T c.(739-741)CCT>CTT p.P247L NM_016002 NP_057086 Q8NBX0 SCPDH_HUMAN saccharopine dehydrogenase (putative) 247 midbody binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity ovary(1) 1 all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618) all_cancers(173;0.0343) OV - Ovarian serous cystadenocarcinoma(106;0.00323) GBM - Glioblastoma multiforme(49;0.0896) TATTCCATTCCTTTTATGGGA 0.363 26 71 --- --- --- --- PASS ZNF669 79862 broad.mit.edu 37 1 247264612 247264612 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:247264612G>A uc001ice.2 - 4 632 c.459C>T c.(457-459)ATC>ATT p.I153I ZNF669_uc001icf.2_Silent_p.I67I NM_024804 NP_079080 Q96BR6 ZN669_HUMAN zinc finger protein 669 isoform 1 153 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00427) GTCTCTGTACGATATGATTTC 0.328 25 36 --- --- --- --- PASS NLRP3 114548 broad.mit.edu 37 1 247588388 247588388 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:247588388G>A uc001icr.2 + 5 1781 c.1643G>A c.(1642-1644)GGG>GAG p.G548E NLRP3_uc001ics.2_Missense_Mutation_p.G548E|NLRP3_uc001icu.2_Missense_Mutation_p.G548E|NLRP3_uc001icw.2_Missense_Mutation_p.G548E|NLRP3_uc001icv.2_Missense_Mutation_p.G548E|NLRP3_uc010pyw.1_Missense_Mutation_p.G546E|NLRP3_uc001ict.1_Missense_Mutation_p.G546E NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 548 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) AACGTTCCAGGGAGTCGTTTG 0.463 3 17 --- --- --- --- PASS NLRP3 114548 broad.mit.edu 37 1 247607969 247607969 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:247607969C>T uc001icr.2 + 10 2995 c.2857C>T c.(2857-2859)CTC>TTC p.L953F NLRP3_uc001ics.2_Missense_Mutation_p.L896F|NLRP3_uc001icu.2_Missense_Mutation_p.L953F|NLRP3_uc001icw.2_Missense_Mutation_p.L896F|NLRP3_uc001icv.2_Missense_Mutation_p.L839F|NLRP3_uc010pyw.1_Missense_Mutation_p.L931F NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 953 LRR 8. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CAACTGCAACCTCACGTCACA 0.522 8 16 --- --- --- --- PASS OR2G2 81470 broad.mit.edu 37 1 247752441 247752441 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:247752441C>T uc010pyy.1 + 1 780 c.780C>T c.(778-780)TTC>TTT p.F260F NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 260 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) ccatcatcttcatgtatctgc 0.373 45 61 --- --- --- --- PASS OR1C1 26188 broad.mit.edu 37 1 247920818 247920818 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:247920818C>T uc010pza.1 - 1 891 c.891G>A c.(889-891)ATG>ATA p.M297I NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 297 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GTCCCCTCTTCATATCCCTGT 0.428 19 57 --- --- --- --- PASS OR1C1 26188 broad.mit.edu 37 1 247921615 247921615 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:247921615G>A uc010pza.1 - 1 94 c.94C>T c.(94-96)CTC>TTC p.L32F NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 32 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TACATACAGAGAAAGAGCACA 0.463 5 26 --- --- --- --- PASS OR14A16 284532 broad.mit.edu 37 1 247978121 247978121 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:247978121C>T uc001idm.1 - 1 911 c.911G>A c.(910-912)GGA>GAA p.G304E NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, 304 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GGTGAGCTTTCCCTTTATCAA 0.343 6 15 --- --- --- --- PASS OR14A16 284532 broad.mit.edu 37 1 247978721 247978721 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:247978721G>A uc001idm.1 - 1 311 c.311C>T c.(310-312)TCT>TTT p.S104F NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, 104 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGATGCTGAAGAAAGCAACAA 0.463 39 44 --- --- --- --- PASS OR2W3 343171 broad.mit.edu 37 1 248058951 248058951 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:248058951C>T uc001idp.1 + 3 332 c.63C>T c.(61-63)CCC>CCT p.P21P OR2W3_uc010pzb.1_Silent_p.P21P NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 21 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CTGACCGACCCCATCTGGAGA 0.527 21 36 --- --- --- --- PASS OR2L8 391190 broad.mit.edu 37 1 248112162 248112162 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:248112162G>A uc001idt.1 + 1 3 c.3G>A c.(1-3)ATG>ATA p.M1I OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 1 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) AATGCTCCATGGAAAATTACA 0.279 7 35 --- --- --- --- PASS OR2L8 391190 broad.mit.edu 37 1 248112240 248112240 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:248112240C>T uc001idt.1 + 1 81 c.81C>T c.(79-81)TTC>TTT p.F27F OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 27 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TTTTCTTCTTCATTCTCATTG 0.388 33 78 --- --- --- --- PASS OR2L8 391190 broad.mit.edu 37 1 248112840 248112840 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:248112840G>A uc001idt.1 + 1 681 c.681G>A c.(679-681)ATG>ATA p.M227I OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 227 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TCTACCACATGAAATCTGCAG 0.448 23 66 --- --- --- --- PASS OR2L2 26246 broad.mit.edu 37 1 248202092 248202092 + Missense_Mutation SNP C T T rs140243044 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:248202092C>T uc001idw.2 + 1 619 c.523C>T c.(523-525)CAT>TAT p.H175Y OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 175 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) AGCCATCAATCATTTTTTCTG 0.433 20 93 --- --- --- --- PASS OR2L3 391192 broad.mit.edu 37 1 248224130 248224130 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:248224130C>T uc001idx.1 + 1 147 c.147C>T c.(145-147)TTC>TTT p.F49F OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 49 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TTCTCATCTTCTTGGACACCC 0.418 47 155 --- --- --- --- PASS OR2L3 391192 broad.mit.edu 37 1 248224427 248224427 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:248224427G>A uc001idx.1 + 1 444 c.444G>A c.(442-444)TGG>TGA p.W148* OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 148 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CAGGGTCTTGGATCATAGGCT 0.433 44 106 --- --- --- --- PASS OR2L13 284521 broad.mit.edu 37 1 248263533 248263533 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:248263533C>T uc001ids.2 + 3 1193 c.856C>T c.(856-858)CCC>TCC p.P286S NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 286 Helical; Name=7; (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) CATGCTCAATCCCATTATCTA 0.488 24 38 --- --- --- --- PASS OR2M2 391194 broad.mit.edu 37 1 248343802 248343802 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:248343802G>A uc010pzf.1 + 1 515 c.515G>A c.(514-516)CGG>CAG p.R172Q NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 172 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TGTGGGTCTCGGGAAATAGCC 0.418 59 94 --- --- --- --- PASS OR2M3 127062 broad.mit.edu 37 1 248366433 248366433 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:248366433C>T uc010pzg.1 + 1 64 c.64C>T c.(64-66)CCC>TCC p.P22S NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CAATCACAGCCCCACCCACAC 0.498 61 86 --- --- --- --- PASS OR2T33 391195 broad.mit.edu 37 1 248436733 248436733 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:248436733G>A uc010pzi.1 - 1 384 c.384C>T c.(382-384)CTC>CTT p.L128L NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 128 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TGGGATATCGGAGTGGGTGGC 0.597 9 75 --- --- --- --- PASS OR2T33 391195 broad.mit.edu 37 1 248436828 248436828 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:248436828C>T uc010pzi.1 - 1 289 c.289G>A c.(289-291)GTG>ATG p.V97M NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 97 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) AAGATCTGCACACCACAGCCA 0.572 8 111 --- --- --- --- PASS OR2T33 391195 broad.mit.edu 37 1 248437113 248437113 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:248437113C>T uc010pzi.1 - 1 4 c.4G>A c.(4-6)GAG>AAG p.E2K NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 2 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TTTCTCATCTCCATAATTTCC 0.428 19 25 --- --- --- --- PASS OR2T12 127064 broad.mit.edu 37 1 248458687 248458687 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:248458687G>A uc010pzj.1 - 1 194 c.194C>T c.(193-195)TCC>TTC p.S65F NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 65 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(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) OV - Ovarian serous cystadenocarcinoma(106;0.0201) GTCCATGAGGGAAAGTTGGCT 0.552 37 23 --- --- --- --- PASS OR2M7 391196 broad.mit.edu 37 1 248486965 248486965 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:248486965C>T uc010pzk.1 - 1 906 c.906G>A c.(904-906)ATG>ATA p.M302I NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 302 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTAAGATTTTCATTAATGCTC 0.403 23 37 --- --- --- --- PASS OR14C36 127066 broad.mit.edu 37 1 248512233 248512233 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:248512233C>T uc010pzl.1 + 1 157 c.157C>T c.(157-159)CTT>TTT p.L53F NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, 53 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 TGACAGCAGCCTTCACATGCC 0.438 28 79 --- --- --- --- PASS OR2T4 127074 broad.mit.edu 37 1 248525368 248525368 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:248525368C>T uc001ieh.1 + 1 486 c.486C>T c.(484-486)CTC>CTT p.L162L NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 162 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(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) GCCATCCTCTCCGTTACCCTG 0.527 45 110 --- --- --- --- PASS OR2T2 401992 broad.mit.edu 37 1 248616386 248616386 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:248616386G>A uc001iek.1 + 1 288 c.288G>A c.(286-288)CTG>CTA p.L96L NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, 96 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) TTTCCTTCCTGGGCTGTGCAG 0.532 21 176 --- --- --- --- PASS OR2G6 391211 broad.mit.edu 37 1 248685273 248685273 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:248685273C>T uc001ien.1 + 1 326 c.326C>T c.(325-327)TCG>TTG p.S109L NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 109 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) GGGTTGGGCTCGTCTGAGTGT 0.547 15 49 --- --- --- --- PASS OR2T11 127077 broad.mit.edu 37 1 248789647 248789647 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:248789647G>A uc001ier.1 - 1 783 c.783C>T c.(781-783)TCC>TCT p.S261S NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(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) GGGTGTGGAAGGACTGGGGCA 0.512 17 7 --- --- --- --- PASS OR2T11 127077 broad.mit.edu 37 1 248789953 248789953 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:248789953G>A uc001ier.1 - 1 477 c.477C>T c.(475-477)ATC>ATT p.I159I NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, 159 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(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) CATTCATGGTGATGGGAGTGA 0.522 23 4 --- --- --- --- PASS PXDN 7837 broad.mit.edu 37 2 1648443 1648443 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:1648443G>A uc002qxa.2 - 18 3754 c.3690C>T c.(3688-3690)CCC>CCT p.P1230P NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1230 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) ACATCAGGGTGGGGCCCAGCC 0.572 16 26 --- --- --- --- PASS PXDN 7837 broad.mit.edu 37 2 1652238 1652238 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:1652238G>A uc002qxa.2 - 17 3378 c.3314C>T c.(3313-3315)CCC>CTC p.P1105L NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1105 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) AATCCGGAAGGGAGAGAAGAA 0.582 13 14 --- --- --- --- PASS PXDN 7837 broad.mit.edu 37 2 1677562 1677562 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:1677562C>T uc002qxa.2 - 9 935 c.871G>A c.(871-873)GAT>AAT p.D291N PXDN_uc002qxb.1_Missense_Mutation_p.D291N|PXDN_uc002qxc.1_Missense_Mutation_p.D108N NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 291 Ig-like C2-type 1. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) AGGCGGGAATCTGTCTTCATG 0.507 26 68 --- --- --- --- PASS MYT1L 23040 broad.mit.edu 37 2 1891377 1891377 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:1891377T>C uc002qxe.2 - 17 3352 c.2525A>G c.(2524-2526)GAA>GGA p.E842G MYT1L_uc002qxd.2_Missense_Mutation_p.E840G|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 842 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GTCCAAGTCTTCTGGCTGTGG 0.562 48 105 --- --- --- --- PASS MYT1L 23040 broad.mit.edu 37 2 1906880 1906880 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:1906880C>T uc002qxe.2 - 14 2831 c.2004G>A c.(2002-2004)AGG>AGA p.R668R MYT1L_uc002qxd.2_Silent_p.R666R|MYT1L_uc010ewl.1_Intron NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 668 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GGGATATATCCCTGGTTTGCA 0.438 25 40 --- --- --- --- PASS ALLC 55821 broad.mit.edu 37 2 3744989 3744989 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:3744989C>T uc010ewt.2 + 10 954 c.793C>T c.(793-795)CGA>TGA p.R265* ALLC_uc002qyf.2_Nonsense_Mutation_p.R36* NM_018436 NP_060906 Q8N6M5 ALLC_HUMAN allantoicase isoform a 284 allantoicase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) GGCAGTTTTCCGATTGGCACA 0.373 HNSCC(21;0.051) 26 74 --- --- --- --- PASS RNF144A 9781 broad.mit.edu 37 2 7160794 7160794 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:7160794C>T uc002qys.2 + 6 934 c.492C>T c.(490-492)TTC>TTT p.F164F RNF144A_uc002qyt.2_5'UTR NM_014746 NP_055561 P50876 R144A_HUMAN ring finger protein 144 164 Golgi apparatus|integral to membrane ligase activity|zinc ion binding ovary(1)|kidney(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) CGATCACCTTCCTCCCCGGGG 0.592 11 25 --- --- --- --- PASS KIDINS220 57498 broad.mit.edu 37 2 8890323 8890323 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:8890323G>A uc002qzc.2 - 24 3515 c.3333C>T c.(3331-3333)TTC>TTT p.F1111F KIDINS220_uc010yiv.1_Silent_p.F877F|KIDINS220_uc002qzd.2_Silent_p.F1069F|KIDINS220_uc010yiw.1_Silent_p.F1112F|KIDINS220_uc002qzb.2_5'UTR|KIDINS220_uc002qze.2_Silent_p.F116F NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate of 220 kDa 1111 Cytoplasmic (Potential). activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CTCCACCTGCGAAGGGCCCAT 0.612 26 49 --- --- --- --- PASS NBAS 51594 broad.mit.edu 37 2 15415806 15415806 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:15415806G>A uc002rcc.1 - 44 5552 c.5526C>T c.(5524-5526)TCC>TCT p.S1842S NBAS_uc010exl.1_Silent_p.S914S|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1842 ovary(2)|liver(1)|skin(1) 4 GAGAGCTTGGGGAAAGCATCT 0.453 27 31 --- --- --- --- PASS NBAS 51594 broad.mit.edu 37 2 15679377 15679377 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:15679377G>T uc002rcc.1 - 7 509 c.483C>A c.(481-483)CTC>CTA p.L161L NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 161 WD 1. ovary(2)|liver(1)|skin(1) 4 CACTTCCCATGAGATCAAACA 0.428 16 52 --- --- --- --- PASS MYCN 4613 broad.mit.edu 37 2 16082519 16082519 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:16082519C>T uc002rci.2 + 2 633 c.333C>T c.(331-333)ATC>ATT p.I111I MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.1_Silent_p.I103I NM_005378 NP_005369 P04198 MYCN_HUMAN v-myc myelocytomatosis viral related oncogene, 111 regulation of transcription from RNA polymerase II promoter chromatin|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(3;0.000332) ACCCGGTCATCCTCCAGGACT 0.706 A neuroblastoma 6 4 --- --- --- --- PASS RAD51AP2 729475 broad.mit.edu 37 2 17698866 17698866 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:17698866C>T uc002rcl.1 - 1 841 c.817G>A c.(817-819)GTC>ATC p.V273I RAD51AP2_uc010exn.1_Missense_Mutation_p.V264I NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 273 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TTTAAATAGACAGAGGACATT 0.378 14 40 --- --- --- --- PASS SDC1 6382 broad.mit.edu 37 2 20403882 20403882 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:20403882G>A uc002rdo.1 - 3 618 c.319C>T c.(319-321)CTG>TTG p.L107L SDC1_uc002rdp.1_Silent_p.L107L|SDC1_uc010exv.2_Silent_p.L107L|SDC1_uc010exw.1_RNA NM_002997 NP_002988 P18827 SDC1_HUMAN syndecan 1 precursor 107 Extracellular (Potential). lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development cytoplasm|extracellular region|focal adhesion|integral to plasma membrane cytoskeletal protein binding|protein C-terminus binding ovary(4)|skin(1) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) OV - Ovarian serous cystadenocarcinoma(76;0.221) ACTTCTGGCAGGACTACAGCC 0.677 20 26 --- --- --- --- PASS SDC1 6382 broad.mit.edu 37 2 20403883 20403883 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:20403883G>A uc002rdo.1 - 3 617 c.318C>T c.(316-318)GTC>GTT p.V106V SDC1_uc002rdp.1_Silent_p.V106V|SDC1_uc010exv.2_Silent_p.V106V|SDC1_uc010exw.1_RNA NM_002997 NP_002988 P18827 SDC1_HUMAN syndecan 1 precursor 106 Extracellular (Potential). lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development cytoplasm|extracellular region|focal adhesion|integral to plasma membrane cytoskeletal protein binding|protein C-terminus binding ovary(4)|skin(1) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) OV - Ovarian serous cystadenocarcinoma(76;0.221) CTTCTGGCAGGACTACAGCCT 0.677 20 27 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21225418 21225418 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:21225418G>A uc002red.2 - 29 13004 c.12876C>T c.(12874-12876)ACC>ACT p.T4292T NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 4292 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GCACCTCTGTGGTCTTGAGAG 0.328 26 78 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21232203 21232203 + Nonsense_Mutation SNP G A A rs146538280 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:21232203G>A uc002red.2 - 26 7665 c.7537C>T c.(7537-7539)CGA>TGA p.R2513* NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2513 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.R2513*(1) ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AGGGTCTCTCGGAATTTGGCC 0.438 23 32 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21232524 21232524 + Nonsense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:21232524C>A uc002red.2 - 26 7344 c.7216G>T c.(7216-7218)GAA>TAA p.E2406* NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2406 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AAAGATAATTCATTAAGCTTC 0.294 8 25 --- --- --- --- PASS ATAD2B 54454 broad.mit.edu 37 2 24011440 24011440 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:24011440A>T uc002rek.3 - 20 3012 c.2718T>A c.(2716-2718)TTT>TTA p.F906L ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Missense_Mutation_p.F151L|ATAD2B_uc002rej.3_Missense_Mutation_p.F74L NM_017552 NP_060022 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 906 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATTCTTGAAAAAATTTTCTTC 0.363 16 30 --- --- --- --- PASS ITSN2 50618 broad.mit.edu 37 2 24432886 24432886 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:24432886G>A uc002rfe.2 - 35 4532 c.4274C>T c.(4273-4275)TCT>TTT p.S1425F ITSN2_uc002rff.2_Missense_Mutation_p.S1398F NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 1425 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTTGGTGAGAGAGTTGAAAAT 0.483 47 57 --- --- --- --- PASS POMC 5443 broad.mit.edu 37 2 25387536 25387536 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:25387536C>T uc002rfy.1 - 3 369 c.106G>A c.(106-108)GAC>AAC p.D36N POMC_uc002rfz.1_Missense_Mutation_p.D36N|POMC_uc002rga.1_Missense_Mutation_p.D36N NM_001035256 NP_001030333 P01189 COLI_HUMAN proopiomelanocortin preproprotein 36 cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) GTGGTGAGGTCCTGACACTGG 0.592 23 55 --- --- --- --- PASS OTOF 9381 broad.mit.edu 37 2 26706345 26706345 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:26706345G>A uc002rhk.2 - 13 1504 c.1377C>T c.(1375-1377)TTC>TTT p.F459F NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 459 Cytoplasmic (Potential).|C2 2. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCCAGCAAAGAAGACTTGCA 0.577 21 39 --- --- --- --- PASS CIB4 130106 broad.mit.edu 37 2 26864147 26864147 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:26864147C>T uc002rhm.2 - 1 65 c.36G>A c.(34-36)GAG>GAA p.E12E NM_001029881 NP_001025052 A0PJX0 CIB4_HUMAN calcium and integrin binding family member 4 12 calcium ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTTCCAGGTCCTCCCAGTGCA 0.552 40 80 --- --- --- --- PASS DPYSL5 56896 broad.mit.edu 37 2 27156166 27156166 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:27156166C>T uc002rhu.3 + 7 913 c.755C>T c.(754-756)TCG>TTG p.S252L DPYSL5_uc002rhv.3_Missense_Mutation_p.S252L NM_020134 NP_064519 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 252 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCAGTATCTCGGCTGGTGAC 0.517 9 30 --- --- --- --- PASS ABHD1 84696 broad.mit.edu 37 2 27351984 27351984 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:27351984G>A uc002rit.2 + 3 607 c.447G>A c.(445-447)AGG>AGA p.R149R ABHD1_uc002riu.2_RNA|ABHD1_uc002riv.2_RNA NM_032604 NP_115993 Q96SE0 ABHD1_HUMAN abhydrolase domain-containing protein 1 149 integral to membrane carboxylesterase activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGCTCTGAGGGATGGCTACC 0.517 11 29 --- --- --- --- PASS SLC5A6 8884 broad.mit.edu 37 2 27430445 27430445 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:27430445G>A uc002rjd.2 - 3 465 c.74C>T c.(73-75)TCC>TTC p.S25F SLC5A6_uc010eyv.1_Missense_Mutation_p.S25F|SLC5A6_uc002rje.1_Missense_Mutation_p.S25F NM_021095 NP_066918 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium-dependent 25 Helical; (Potential). biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) GTCCATGATGGAGAAGGTAGA 0.567 10 25 --- --- --- --- PASS CAD 790 broad.mit.edu 37 2 27446793 27446793 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:27446793T>C uc002rji.2 + 8 1166 c.1004T>C c.(1003-1005)TTT>TCT p.F335S CAD_uc010eyw.2_Missense_Mutation_p.F335S NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 335 Glutamine amidotransferase type-1.|GATase (Glutamine amidotransferase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) AGTGTCCAGTTTCACCCAGAG 0.537 66 138 --- --- --- --- PASS DNAJC5G 285126 broad.mit.edu 37 2 27499703 27499703 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:27499703C>T uc002rjl.1 + 3 525 c.107C>T c.(106-108)TCC>TTC p.S36F SLC30A3_uc010ylh.1_5'Flank|DNAJC5G_uc010yli.1_Missense_Mutation_p.S36F|DNAJC5G_uc002rjm.1_Missense_Mutation_p.S36F NM_173650 NP_775921 Q8N7S2 DNJ5G_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 36 J. protein folding membrane heat shock protein binding|unfolded protein binding skin(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTCAAAAAATCCTACAGGTTC 0.423 12 21 --- --- --- --- PASS GTF3C2 2976 broad.mit.edu 37 2 27566409 27566409 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:27566409C>A uc002rjv.1 - 3 376 c.13G>T c.(13-15)GGG>TGG p.G5W GTF3C2_uc002rju.1_Missense_Mutation_p.G16W|GTF3C2_uc002rjw.1_Missense_Mutation_p.G5W|GTF3C2_uc010eyz.1_Missense_Mutation_p.G5W NM_001521 NP_001512 Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 5 transcription factor TFIIIC complex ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TAGCCGACCCCGCAGGTATCC 0.517 4 60 --- --- --- --- PASS PLB1 151056 broad.mit.edu 37 2 28802539 28802539 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:28802539G>A uc002rmb.1 + 23 1531 c.1531G>A c.(1531-1533)GGC>AGC p.G511S PLB1_uc010ezj.1_Missense_Mutation_p.G522S|PLB1_uc002rmc.2_Missense_Mutation_p.G199S|PLB1_uc002rmd.1_Missense_Mutation_p.G21S NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN phospholipase B1 precursor 511 4 X 308-326 AA approximate repeats.|2.|Extracellular (Potential). lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity ovary(4)|large_intestine(2)|skin(2)|breast(1) 9 Acute lymphoblastic leukemia(172;0.155) CCTGTTTATAGGCGGCAATGA 0.453 12 44 --- --- --- --- PASS ALK 238 broad.mit.edu 37 2 29416491 29416491 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:29416491C>T uc002rmy.2 - 29 5369 c.4462G>A c.(4462-4464)GAG>AAG p.E1488K ALK_uc010ymo.1_Missense_Mutation_p.E420K NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 1488 Cytoplasmic (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) TTGTGCAACTCCGAAGGAGGG 0.542 T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 49 74 --- --- --- --- PASS YPEL5 51646 broad.mit.edu 37 2 30379532 30379532 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:30379532C>T uc002rna.3 + 4 576 c.15C>T c.(13-15)TTC>TTT p.F5F YPEL5_uc002rnb.3_Silent_p.F5F|YPEL5_uc002rnc.3_Silent_p.F5F|YPEL5_uc002rmz.3_Silent_p.F5F|YPEL5_uc010ezn.2_Intron|YPEL5_uc002rnd.2_Silent_p.F5F NM_001127401 NP_001120873 P62699 YPEL5_HUMAN yippee-like 5 5 peptide-methionine-(S)-S-oxide reductase activity 0 Acute lymphoblastic leukemia(172;0.155) GCAGAATTTTCCTTGATCATA 0.418 44 53 --- --- --- --- PASS CAPN13 92291 broad.mit.edu 37 2 30973992 30973992 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:30973992G>A uc002rnn.2 - 11 1389 c.1213C>T c.(1213-1215)CCA>TCA p.P405S CAPN13_uc002rnp.1_Missense_Mutation_p.P405S NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN calpain 13 405 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity large_intestine(1)|ovary(1) 2 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) AAATCGAGTGGAAATTTTGCA 0.463 15 30 --- --- --- --- PASS XDH 7498 broad.mit.edu 37 2 31562393 31562393 + Missense_Mutation SNP G A A rs142329784 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:31562393G>A uc002rnv.1 - 34 3815 c.3736C>T c.(3736-3738)CGC>TGC p.R1246C NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 1246 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GGGCAGTCGCGGAGCAGGGAC 0.607 30 58 --- --- --- --- PASS SRD5A2 6716 broad.mit.edu 37 2 31758810 31758810 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:31758810C>T uc002rnw.1 - 3 379 c.308G>A c.(307-309)CGA>CAA p.R103Q NM_000348 NP_000339 P31213 S5A2_HUMAN 3-oxo-5 alpha-steroid 4-dehydrogenase 2 103 androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity 0 Acute lymphoblastic leukemia(172;0.155) Azelaic Acid(DB00548)|Dutasteride(DB01126) AGGCCTCCCTCGATTGAGCAG 0.458 8 19 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32768395 32768395 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:32768395G>A uc010ezu.2 + 62 12513 c.12379G>A c.(12379-12381)GAG>AAG p.E4127K NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4127 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) ACAGTCAGGGGAGTTAGTTTA 0.473 78 126 --- --- --- --- PASS VIT 5212 broad.mit.edu 37 2 37041424 37041424 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:37041424G>A uc002rpl.2 + 16 2223 c.2002G>A c.(2002-2004)GAG>AAG p.E668K VIT_uc002rpm.2_Missense_Mutation_p.E646K|VIT_uc010ezv.2_Missense_Mutation_p.E624K|VIT_uc010ezw.2_Missense_Mutation_p.E625K NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN vitrin 653 VWFA 2. proteinaceous extracellular matrix ovary(1)|pancreas(1) 2 all_hematologic(82;0.248) CTTTGTGGACGAGTTTGACAA 0.527 17 27 --- --- --- --- PASS HEATR5B 54497 broad.mit.edu 37 2 37230716 37230716 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:37230716C>T uc002rpp.1 - 31 5115 c.5019G>A c.(5017-5019)CAG>CAA p.Q1673Q HEATR5B_uc002rpo.1_5'Flank|HEATR5B_uc010ezy.1_Silent_p.Q257Q NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1673 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) GCAAATAATCCTGAGCAGCTC 0.353 16 32 --- --- --- --- PASS CEBPZ 10153 broad.mit.edu 37 2 37450511 37450511 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:37450511G>A uc002rpz.2 - 3 1713 c.1683C>T c.(1681-1683)TCC>TCT p.S561S NM_005760 NP_005751 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein zeta 561 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding pancreas(1) 1 all_hematologic(82;0.21) TAGCTTGCTTGGAACACGTCA 0.398 23 35 --- --- --- --- PASS CEBPZ 10153 broad.mit.edu 37 2 37450512 37450512 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:37450512G>A uc002rpz.2 - 3 1712 c.1682C>T c.(1681-1683)TCC>TTC p.S561F NM_005760 NP_005751 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein zeta 561 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding pancreas(1) 1 all_hematologic(82;0.21) AGCTTGCTTGGAACACGTCAT 0.398 23 35 --- --- --- --- PASS C2orf56 55471 broad.mit.edu 37 2 37468858 37468858 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:37468858C>T uc002rqa.3 + 5 621 c.546C>T c.(544-546)TCC>TCT p.S182S C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Intron|C2orf56_uc010ynk.1_Intron|C2orf56_uc010ynl.1_Silent_p.S155S|C2orf56_uc010fah.2_Intron NM_144736 NP_653337 Q7L592 MIDA_HUMAN hypothetical protein LOC55471 isoform 1 182 mitochondrial respiratory chain complex I assembly mitochondrion enzyme binding|methyltransferase activity central_nervous_system(1) 1 all_hematologic(82;0.21) ATGCTGGATCCCCAGTGTATA 0.408 18 47 --- --- --- --- PASS PRKD3 23683 broad.mit.edu 37 2 37543586 37543586 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:37543586G>A uc002rqd.2 - 1 637 c.82C>T c.(82-84)CCG>TCG p.P28S PRKD3_uc002rqf.1_Missense_Mutation_p.P28S NM_005813 NP_005804 O94806 KPCD3_HUMAN protein kinase D3 28 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity lung(2)|ovary(1)|central_nervous_system(1) 4 all_hematologic(82;0.21) CTTGAACACGGAGAAGCAGCT 0.488 21 56 --- --- --- --- PASS FAM82A1 151393 broad.mit.edu 37 2 38231187 38231187 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:38231187G>T uc002rql.2 + 9 1221 c.1098G>T c.(1096-1098)AAG>AAT p.K366N FAM82A1_uc002rqn.1_Missense_Mutation_p.K544N|FAM82A1_uc002rqm.2_Missense_Mutation_p.K221N NM_144713 NP_653314 Q96LZ7 RMD2_HUMAN family with sequence similarity 82, member A1 366 cytoplasm|integral to membrane|microtubule|spindle pole binding ovary(1) 1 ACTTAGCAAAGGTAATGAAGA 0.333 4 42 --- --- --- --- PASS CYP1B1 1545 broad.mit.edu 37 2 38301667 38301667 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:38301667G>A uc002rqo.2 - 3 1268 c.865C>T c.(865-867)CCC>TCC p.P289S NM_000104 NP_000095 Q16678 CP1B1_HUMAN cytochrome P450, family 1, subfamily B, 289 visual perception|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding ovary(1)|central_nervous_system(1) 2 all_hematologic(82;0.21) Estrone(DB00655) ATGTcgcggggggcggccccg 0.512 6 8 --- --- --- --- PASS DHX57 90957 broad.mit.edu 37 2 39088781 39088781 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:39088781G>A uc002rrf.2 - 5 870 c.771C>T c.(769-771)TCC>TCT p.S257S DHX57_uc002rre.2_5'UTR|DHX57_uc002rrg.2_Silent_p.S257S NM_198963 NP_945314 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 257 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 all_hematologic(82;0.248) CTCCACAGATGGACTTGAGAG 0.433 27 59 --- --- --- --- PASS MAP4K3 8491 broad.mit.edu 37 2 39487864 39487864 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:39487864G>A uc002rro.2 - 29 2282 c.2191C>T c.(2191-2193)CCT>TCT p.P731S MAP4K3_uc002rrp.2_Missense_Mutation_p.P710S|MAP4K3_uc010yns.1_Missense_Mutation_p.P284S NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase 731 CNH. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(3)|lung(3)|stomach(1)|pancreas(1) 8 all_hematologic(82;0.211) TCCTGTTCAGGAACTACCAGC 0.378 21 34 --- --- --- --- PASS TMEM178 130733 broad.mit.edu 37 2 39944150 39944150 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:39944150G>A uc002rrt.2 + 4 678 c.653G>A c.(652-654)GGG>GAG p.G218E TMEM178_uc010fam.1_Missense_Mutation_p.R172Q NM_152390 NP_689603 Q8NBL3 TM178_HUMAN transmembrane protein 178 precursor 218 Helical; (Potential). integral to membrane 0 all_hematologic(82;0.248) TTATTTATAGGGATATTTTGC 0.408 77 29 --- --- --- --- PASS SLC8A1 6546 broad.mit.edu 37 2 40655928 40655928 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:40655928A>T uc002rrx.2 - 1 1517 c.1493T>A c.(1492-1494)GTC>GAC p.V498D SLC8A1_uc002rry.2_Missense_Mutation_p.V498D|SLC8A1_uc002rrz.2_Missense_Mutation_p.V498D|SLC8A1_uc002rsa.2_Missense_Mutation_p.V498D|SLC8A1_uc002rsd.3_Missense_Mutation_p.V498D|SLC8A1_uc002rsb.1_Missense_Mutation_p.V498D|SLC8A1_uc010fan.1_Missense_Mutation_p.V498D|SLC8A1_uc002rsc.1_Missense_Mutation_p.V498D NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 498 Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AGATACTTTGACATTGCTGAG 0.428 20 32 --- --- --- --- PASS THADA 63892 broad.mit.edu 37 2 43520065 43520065 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:43520065C>T uc002rsw.3 - 32 5078 c.4726G>A c.(4726-4728)GGA>AGA p.G1576R THADA_uc010far.2_Missense_Mutation_p.G771R|THADA_uc002rsx.3_Missense_Mutation_p.G1576R|THADA_uc002rsy.3_RNA NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 1576 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) CCCTTCTCTCCAAGTCCAGAG 0.493 13 27 --- --- --- --- PASS THADA 63892 broad.mit.edu 37 2 43798883 43798883 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:43798883G>A uc002rsw.3 - 13 2379 c.2027C>T c.(2026-2028)CCA>CTA p.P676L THADA_uc010far.2_5'Flank|THADA_uc002rsx.3_Missense_Mutation_p.P676L|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.P386L|THADA_uc010fat.1_5'Flank|THADA_uc002rta.2_Missense_Mutation_p.P386L|THADA_uc002rtb.1_Missense_Mutation_p.P676L|THADA_uc002rtc.3_Missense_Mutation_p.P676L|THADA_uc002rtd.2_Missense_Mutation_p.P676L NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 676 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) CCGCACTCCTGGAGACTGGCT 0.398 43 78 --- --- --- --- PASS EPAS1 2034 broad.mit.edu 37 2 46607560 46607560 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:46607560C>T uc002ruv.2 + 12 2237 c.1749C>T c.(1747-1749)TTC>TTT p.F583F EPAS1_uc002ruw.2_Silent_p.F49F NM_001430 NP_001421 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 583 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding ovary(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) ACAGTCCCTTCCTCCTGGACA 0.597 24 39 --- --- --- --- PASS SOCS5 9655 broad.mit.edu 37 2 46986423 46986423 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:46986423C>T uc002rvf.2 + 2 918 c.754C>T c.(754-756)CCA>TCA p.P252S SOCS5_uc010yoe.1_Missense_Mutation_p.P221S|SOCS5_uc002rvg.2_Missense_Mutation_p.P252S NM_014011 NP_054730 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 252 cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth ovary(1)|lung(1)|central_nervous_system(1) 3 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) TACATTTGATCCATCTTTGGT 0.423 13 36 --- --- --- --- PASS SOCS5 9655 broad.mit.edu 37 2 46987060 46987060 + Missense_Mutation SNP C T T rs149307689 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:46987060C>T uc002rvf.2 + 2 1555 c.1391C>T c.(1390-1392)TCG>TTG p.S464L SOCS5_uc010yoe.1_Missense_Mutation_p.S433L|SOCS5_uc002rvg.2_Missense_Mutation_p.S464L NM_014011 NP_054730 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 464 SH2. cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth ovary(1)|lung(1)|central_nervous_system(1) 3 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) GATCCCAGTTCGTGCATGTTT 0.438 20 54 --- --- --- --- PASS KLRAQ1 129285 broad.mit.edu 37 2 48681800 48681800 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:48681800C>T uc002rwm.2 + 3 378 c.193C>T c.(193-195)CGA>TGA p.R65* KLRAQ1_uc002rwi.1_Nonsense_Mutation_p.R65*|KLRAQ1_uc002rwj.2_Nonsense_Mutation_p.R65*|KLRAQ1_uc002rwl.2_Nonsense_Mutation_p.R19*|KLRAQ1_uc002rwk.2_Nonsense_Mutation_p.R65*|KLRAQ1_uc010yok.1_Nonsense_Mutation_p.R65* NM_001135629 NP_001129101 Q6ZMI0 KLRAQ_HUMAN KLRAQ motif containing 1 isoform 1 65 Potential. ovary(1) 1 TTTGACATTTCGAAATCTGCA 0.403 19 42 --- --- --- --- PASS KLRAQ1 129285 broad.mit.edu 37 2 48698265 48698265 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:48698265C>T uc002rwm.2 + 10 1122 c.937C>T c.(937-939)CCT>TCT p.P313S KLRAQ1_uc002rwi.1_Missense_Mutation_p.P313S|KLRAQ1_uc002rwj.2_Missense_Mutation_p.P313S|KLRAQ1_uc002rwl.2_Missense_Mutation_p.P267S|KLRAQ1_uc002rwk.2_Missense_Mutation_p.P313S|KLRAQ1_uc010yok.1_Missense_Mutation_p.P313S NM_001135629 NP_001129101 Q6ZMI0 KLRAQ_HUMAN KLRAQ motif containing 1 isoform 1 313 ovary(1) 1 CTATGTCCGCCCTCTTGAGGA 0.373 11 21 --- --- --- --- PASS STON1-GTF2A1L 286749 broad.mit.edu 37 2 48808054 48808054 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:48808054C>T uc010yol.1 + 1 329 c.282C>T c.(280-282)ATC>ATT p.I94I STON1_uc002rwo.3_Silent_p.I94I|STON1_uc010fbm.2_Silent_p.I94I|STON1-GTF2A1L_uc002rwp.1_Silent_p.I94I|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Silent_p.I94I NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 94 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTCCTGGCATCCCCAAAGCAG 0.473 34 64 --- --- --- --- PASS STON1-GTF2A1L 286749 broad.mit.edu 37 2 48873632 48873632 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:48873632G>A uc010yol.1 + 5 2447 c.2400G>A c.(2398-2400)GAG>GAA p.E800E STON1-GTF2A1L_uc002rwp.1_Silent_p.E847E|GTF2A1L_uc002rws.1_Silent_p.E143E|GTF2A1L_uc010yom.1_Silent_p.E109E|GTF2A1L_uc002rwt.2_Silent_p.E143E NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 800 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TGGTGACAGAGACTTCTGGAA 0.353 16 28 --- --- --- --- PASS STON1-GTF2A1L 286749 broad.mit.edu 37 2 48898743 48898743 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:48898743C>T uc010yol.1 + 7 3271 c.3224C>T c.(3223-3225)TCT>TTT p.S1075F STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.S1122F|GTF2A1L_uc002rws.1_Missense_Mutation_p.S418F|GTF2A1L_uc010yom.1_Missense_Mutation_p.S384F|GTF2A1L_uc002rwt.2_Missense_Mutation_p.S418F NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 1075 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CCTTTAAATTCTGGAGATGAT 0.328 19 40 --- --- --- --- PASS LHCGR 3973 broad.mit.edu 37 2 48936160 48936160 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:48936160C>T uc002rwu.3 - 8 677 c.607G>A c.(607-609)GAG>AAG p.E203K GTF2A1L_uc002rwt.2_Intron|LHCGR_uc002rwv.2_RNA NM_000233 NP_000224 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 203 Extracellular (Potential).|LRR 5. male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity ovary(3)|lung(2)|breast(2)|skin(1) 8 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) TCCTTTAGCTCCCTGTGGGGA 0.493 Familial_Male-Limited_Precocious_Puberty 19 33 --- --- --- --- PASS FSHR 2492 broad.mit.edu 37 2 49191091 49191091 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:49191091G>T uc002rww.2 - 10 943 c.869C>A c.(868-870)CCA>CAA p.P290Q FSHR_uc002rwx.2_Missense_Mutation_p.P228Q|FSHR_uc010fbn.2_Missense_Mutation_p.P264Q NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 290 Extracellular (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) GTTGCAAATTGGATGAAGCTC 0.388 Gonadal_Dysgenesis_46_XX 7 130 --- --- --- --- PASS NRXN1 9378 broad.mit.edu 37 2 50280573 50280573 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:50280573C>T uc010fbp.2 - 4 1576 c.769G>A c.(769-771)GGA>AGA p.G257R NRXN1_uc002rxb.3_Missense_Mutation_p.G994R|NRXN1_uc010fbq.2_Missense_Mutation_p.G1362R|NRXN1_uc002rxe.3_Missense_Mutation_p.G1292R NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 257 Extracellular (Potential).|Laminin G-like. 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) CTCACATTTCCCACTATGGCG 0.507 17 35 --- --- --- --- PASS VRK2 7444 broad.mit.edu 37 2 58386588 58386588 + Silent SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:58386588T>C uc002rzo.2 + 16 2032 c.1287T>C c.(1285-1287)TTT>TTC p.F429F VRK2_uc010fcb.2_3'UTR|VRK2_uc002rzs.2_3'UTR|VRK2_uc002rzr.2_3'UTR|VRK2_uc010fcc.2_Silent_p.F311F|VRK2_uc002rzv.2_Silent_p.F429F|VRK2_uc010fcd.2_Silent_p.F406F|VRK2_uc002rzp.2_Silent_p.F429F|VRK2_uc010ypg.1_Silent_p.F429F|VRK2_uc002rzq.2_3'UTR|VRK2_uc002rzu.2_3'UTR|VRK2_uc002rzt.2_Silent_p.F311F|FANCL_uc002rzw.3_3'UTR|FANCL_uc002rzx.3_3'UTR|FANCL_uc010fce.2_3'UTR NM_001130482 NP_001123954 Q86Y07 VRK2_HUMAN vaccinia related kinase 2 isoform 2 429 integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 CAAACTCATTTTATGAGCCTC 0.383 19 36 --- --- --- --- PASS PAPOLG 64895 broad.mit.edu 37 2 61014149 61014149 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:61014149C>T uc002sai.2 + 14 1465 c.1234C>T c.(1234-1236)CTT>TTT p.L412F PAPOLG_uc002saj.2_Missense_Mutation_p.L101F|PAPOLG_uc002sak.2_5'UTR|PAPOLG_uc010fch.2_Missense_Mutation_p.L101F NM_022894 NP_075045 Q9BWT3 PAPOG_HUMAN poly(A) polymerase gamma 412 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding ovary(1)|central_nervous_system(1) 2 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) ATTTATTACTCTTGCCCATGT 0.303 17 33 --- --- --- --- PASS FAM161A 84140 broad.mit.edu 37 2 62069296 62069296 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:62069296G>A uc010ypo.1 - 2 485 c.383C>T c.(382-384)CCA>CTA p.P128L FAM161A_uc002sbm.3_Missense_Mutation_p.P128L|FAM161A_uc002sbn.3_5'UTR|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Missense_Mutation_p.P19L NM_032180 NP_115556 Q3B820 F161A_HUMAN hypothetical protein LOC84140 128 response to stimulus|visual perception centrosome large_intestine(2)|ovary(1) 3 GATGACCACTGGCTGAACTTC 0.348 25 68 --- --- --- --- PASS C2orf86 51057 broad.mit.edu 37 2 63605587 63605587 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:63605587G>A uc002sch.2 - 12 2128 c.1682C>T c.(1681-1683)TCC>TTC p.S561F C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.S402F|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.S369F|C2orf86_uc002sci.1_Missense_Mutation_p.S537F NM_015910 NP_056994 O95876 FRITZ_HUMAN hypothetical protein LOC51057 isoform 2 561 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane 0 CAATATAGTGGAATCCAGAAG 0.403 21 39 --- --- --- --- PASS PELI1 57162 broad.mit.edu 37 2 64322102 64322102 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:64322102G>A uc002scs.3 - 6 5030 c.991C>T c.(991-993)CGT>TGT p.R331C PELI1_uc002sct.3_Missense_Mutation_p.R331C|PELI1_uc002scr.3_Missense_Mutation_p.R152C NM_020651 NP_065702 Q96FA3 PELI1_HUMAN pellino protein 331 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ovary(1) 1 GGACATTCACGATCTTTTCCA 0.463 42 96 --- --- --- --- PASS HSPC159 29094 broad.mit.edu 37 2 64682722 64682722 + Splice_Site SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:64682722G>A uc002scy.3 + 3 462 c.109_splice c.e3-1 p.I37_splice NM_014181 NP_054900 Q3ZCW2 LEGL_HUMAN galectin-related protein intracellular sugar binding 0 ACCCTTTTCAGATAGTTCCAT 0.468 9 22 --- --- --- --- PASS AFTPH 54812 broad.mit.edu 37 2 64812640 64812640 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:64812640G>A uc002sdc.2 + 8 2656 c.2624G>A c.(2623-2625)AGA>AAA p.R875K AFTPH_uc002scz.2_Missense_Mutation_p.R875K|AFTPH_uc002sda.2_Missense_Mutation_p.R847K|AFTPH_uc002sdb.2_Missense_Mutation_p.R847K NM_203437 NP_982261 Q6ULP2 AFTIN_HUMAN aftiphilin protein isoform a 875 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding ovary(2) 2 GCATTTGCAAGACTCATGTCT 0.383 38 103 --- --- --- --- PASS PLEK 5341 broad.mit.edu 37 2 68607526 68607526 + Nonsense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:68607526A>T uc002sen.3 + 2 271 c.109A>T c.(109-111)AAG>TAG p.K37* PLEK_uc010fde.2_Nonsense_Mutation_p.K37* NM_002664 NP_002655 P08567 PLEK_HUMAN pleckstrin 37 PH 1. actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding ovary(1) 1 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) TGAATTCTATAAGAAGAAAAG 0.443 21 42 --- --- --- --- PASS MPHOSPH10 10199 broad.mit.edu 37 2 71360531 71360531 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:71360531C>T uc002sht.1 + 2 945 c.593C>T c.(592-594)TCC>TTC p.S198F MPHOSPH10_uc010feb.1_Missense_Mutation_p.S198F NM_005791 NP_005782 O00566 MPP10_HUMAN M-phase phosphoprotein 10 198 RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding skin(2)|ovary(1) 3 AGAGAAAAGTCCATAGTAGAT 0.378 29 81 --- --- --- --- PASS ZNF638 27332 broad.mit.edu 37 2 71591282 71591282 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:71591282C>T uc002shx.2 + 5 1936 c.1617C>T c.(1615-1617)TCC>TCT p.S539S ZNF638_uc010fec.2_Silent_p.S645S|ZNF638_uc010yqw.1_Silent_p.S118S|ZNF638_uc002shw.2_Silent_p.S539S|ZNF638_uc002shy.2_Silent_p.S539S|ZNF638_uc002shz.2_Silent_p.S539S|ZNF638_uc002sia.2_Silent_p.S539S|ZNF638_uc002sib.1_Silent_p.S539S|ZNF638_uc010fed.2_5'Flank NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 539 Arg-rich. RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 GATCCAGATCCCGTTCACCAT 0.438 24 35 --- --- --- --- PASS ZNF638 27332 broad.mit.edu 37 2 71654208 71654208 + Missense_Mutation SNP G A A rs4479447 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:71654208G>A uc002shx.2 + 24 5528 c.5209G>A c.(5209-5211)GAT>AAT p.D1737N ZNF638_uc002shy.2_Missense_Mutation_p.D1737N|ZNF638_uc002shz.2_Missense_Mutation_p.D1737N|ZNF638_uc002sia.2_Missense_Mutation_p.D1737N|ZNF638_uc002sib.1_3'UTR|ZNF638_uc010fed.2_Intron|ZNF638_uc002sic.2_Missense_Mutation_p.D834N|ZNF638_uc002sid.2_Missense_Mutation_p.D106N NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 1737 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 AGTTACTGTAGATGAAATACA 0.383 24 64 --- --- --- --- PASS CYP26B1 56603 broad.mit.edu 37 2 72361913 72361913 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:72361913C>T uc002sih.1 - 4 838 c.838G>A c.(838-840)GAG>AAG p.E280K CYP26B1_uc010yra.1_Missense_Mutation_p.E263K|CYP26B1_uc010yrb.1_Missense_Mutation_p.E205K NM_019885 NP_063938 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily b, 280 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding skin(2) 2 ATGGTCATCTCCTTCCCGTGC 0.617 15 27 --- --- --- --- PASS EMX1 2016 broad.mit.edu 37 2 73160999 73160999 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:73160999G>A uc002sin.1 + 3 1167 c.789G>A c.(787-789)AAG>AAA p.K263K EMX1_uc002sim.1_3'UTR NM_004097 NP_004088 Q04741 EMX1_HUMAN empty spiracles homolog 1 230 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 AGCAGAAGAAGAAGGGCTCCC 0.582 10 24 --- --- --- --- PASS ALMS1 7840 broad.mit.edu 37 2 73800511 73800511 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:73800511C>T uc002sje.1 + 18 11621 c.11510C>T c.(11509-11511)CCC>CTC p.P3837L ALMS1_uc002sjf.1_Missense_Mutation_p.P3793L|ALMS1_uc002sjg.2_Missense_Mutation_p.P3223L|ALMS1_uc002sjh.1_Missense_Mutation_p.P3223L NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3835 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 ACAGGTCATCCCCTAGTGACT 0.458 10 32 --- --- --- --- PASS C2orf78 388960 broad.mit.edu 37 2 74043295 74043295 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:74043295G>A uc002sjr.1 + 3 2066 c.1945G>A c.(1945-1947)GGA>AGA p.G649R NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN hypothetical protein LOC388960 649 ovary(2) 2 TATGAAAACTGGATTCTCTTC 0.502 21 69 --- --- --- --- PASS SLC4A5 57835 broad.mit.edu 37 2 74480165 74480165 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:74480165G>A uc002sko.1 - 10 1206 c.1204C>T c.(1204-1206)CCT>TCT p.P402S SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.P402S|SLC4A5_uc010ffc.1_Missense_Mutation_p.P402S|SLC4A5_uc002skp.1_Missense_Mutation_p.P338S|SLC4A5_uc002sks.1_Missense_Mutation_p.P402S NM_021196 NP_067019 Q9BY07 S4A5_HUMAN sodium bicarbonate transporter 4 isoform a 402 Cytoplasmic (Potential). apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 9 CATTCTCCAGGAGGAAGGACG 0.527 19 17 --- --- --- --- PASS MOGS 7841 broad.mit.edu 37 2 74688726 74688726 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:74688726G>A uc010ffj.2 - 4 2353 c.2190C>T c.(2188-2190)TCC>TCT p.S730S MOGS_uc010ffh.2_Silent_p.S455S|MOGS_uc010yrt.1_Silent_p.S611S|MOGS_uc010ffi.2_Silent_p.S624S NM_006302 NP_006293 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase isoform 1 730 Lumenal (Potential). oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity 0 AGGCTGCAAGGGAGCGTAAAC 0.607 19 37 --- --- --- --- PASS MOGS 7841 broad.mit.edu 37 2 74688727 74688727 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:74688727G>T uc010ffj.2 - 4 2352 c.2189C>A c.(2188-2190)TCC>TAC p.S730Y MOGS_uc010ffh.2_Missense_Mutation_p.S455Y|MOGS_uc010yrt.1_Missense_Mutation_p.S611Y|MOGS_uc010ffi.2_Missense_Mutation_p.S624Y NM_006302 NP_006293 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase isoform 1 730 Lumenal (Potential). oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity 0 GGCTGCAAGGGAGCGTAAACC 0.602 20 37 --- --- --- --- PASS C2orf65 130951 broad.mit.edu 37 2 74789505 74789505 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:74789505C>T uc002smy.2 - 8 1237 c.1120G>A c.(1120-1122)GGA>AGA p.G374R C2orf65_uc010ysa.1_Missense_Mutation_p.G374R|C2orf65_uc010ffp.2_Intron|C2orf65_uc002smx.2_Missense_Mutation_p.G130R NM_138804 NP_620159 Q8TC57 CB065_HUMAN hypothetical protein LOC130951 374 chromatin assembly|female gamete generation|RNA processing|spermatogenesis integral to membrane ovary(1)|pancreas(1) 2 TGGCTGTGTCCTGGGCCCGGT 0.527 23 39 --- --- --- --- PASS HK2 3099 broad.mit.edu 37 2 75104379 75104379 + Missense_Mutation SNP G T T rs36066402 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:75104379G>T uc002snd.2 + 8 2888 c.962G>T c.(961-963)GGG>GTG p.G321V NM_000189 NP_000180 P52789 HXK2_HUMAN hexokinase 2 321 Regulatory. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity ovary(1)|lung(1) 2 CTGCTCTTTGGGGGGAAGCTC 0.547 6 165 --- --- --- --- PASS C2orf3 6936 broad.mit.edu 37 2 75933713 75933713 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:75933713C>T uc002sno.2 - 2 460 c.330G>A c.(328-330)AAG>AAA p.K110K C2orf3_uc002snn.2_5'UTR|C2orf3_uc010fft.2_5'UTR|C2orf3_uc002snp.3_Silent_p.K110K NM_003203 NP_003194 P16383 GCF_HUMAN hypothetical protein LOC6936 110 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 CCTGATCATCCTTACTTTCTG 0.338 16 45 --- --- --- --- PASS REG1B 5968 broad.mit.edu 37 2 79313613 79313613 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:79313613C>T uc002sny.2 - 4 313 c.201G>A c.(199-201)ATG>ATA p.M67I REG1B_uc010ffv.1_Missense_Mutation_p.M67I|REG1B_uc010ffw.2_3'UTR NM_006507 NP_006498 P48304 REG1B_HUMAN regenerating islet-derived 1 beta precursor 67 C-type lectin. cell proliferation extracellular region sugar binding central_nervous_system(1)|skin(1) 2 TGCCTGAATTCATGTTCTGGC 0.498 31 57 --- --- --- --- PASS REG1A 5967 broad.mit.edu 37 2 79348738 79348738 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:79348738G>A uc002snz.2 + 3 218 c.115G>A c.(115-117)GGC>AGC p.G39S REG1A_uc010ffx.1_Missense_Mutation_p.G39S|REG1A_uc010ysd.1_Missense_Mutation_p.G39S NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 39 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 CTGCCCAGAAGGCACCAATGC 0.532 83 117 --- --- --- --- PASS REG1A 5967 broad.mit.edu 37 2 79349168 79349168 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:79349168G>A uc002snz.2 + 4 341 c.238G>A c.(238-240)GAG>AAG p.E80K REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Missense_Mutation_p.E80K NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 80 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 CACCCAGGCCGAGGGTGCCTT 0.522 38 45 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80096945 80096945 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:80096945G>A uc010ysh.1 + 4 474 c.469G>A c.(469-471)GAA>AAA p.E157K CTNNA2_uc010yse.1_Missense_Mutation_p.E157K|CTNNA2_uc010ysf.1_Missense_Mutation_p.E157K|CTNNA2_uc010ysg.1_Missense_Mutation_p.E157K NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 157 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 ACTGCAGGTGGAAGAGGCCCT 0.358 16 47 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80846328 80846328 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:80846328G>A uc010ysh.1 + 17 2554 c.2549G>A c.(2548-2550)GGG>GAG p.G850E CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysi.1_Intron|CTNNA2_uc010ysj.1_Intron NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 850 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 GCTCCGATCGGGAGTGGAAGC 0.453 6 12 --- --- --- --- PASS ELMOD3 84173 broad.mit.edu 37 2 85598247 85598247 + Silent SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:85598247C>A uc002spf.3 + 10 1064 c.399C>A c.(397-399)GCC>GCA p.A133A ELMOD3_uc010fgg.2_RNA|ELMOD3_uc002spg.3_Silent_p.A133A|ELMOD3_uc002sph.3_Silent_p.A133A|ELMOD3_uc010ysn.1_Silent_p.A133A|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_RNA NM_001135021 NP_001128493 Q96FG2 ELMD3_HUMAN ELMO/CED-12 domain containing 3 isoform b 133 phagocytosis cytoskeleton ovary(2) 2 CTGGGCTCGCCGCCCTCCGAC 0.542 4 102 --- --- --- --- PASS MAT2A 4144 broad.mit.edu 37 2 85769398 85769398 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:85769398G>A uc002spr.2 + 6 793 c.670G>A c.(670-672)GAG>AAG p.E224K MAT2A_uc010ysr.1_Missense_Mutation_p.E224K|MAT2A_uc010fgk.2_Missense_Mutation_p.E198K|MAT2A_uc010fgl.2_Missense_Mutation_p.E161K|MAT2A_uc010fgm.1_3'UTR NM_005911 NP_005902 P31153 METK2_HUMAN methionine adenosyltransferase II, alpha 224 methylation|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity 0 L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) TGCCCTAAAGGAGAAAGTCAT 0.458 21 43 --- --- --- --- PASS POLR1A 25885 broad.mit.edu 37 2 86258525 86258525 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:86258525G>A uc002sqs.2 - 30 4885 c.4506C>T c.(4504-4506)GTC>GTT p.V1502V POLR1A_uc010ytb.1_Silent_p.V868V NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 1502 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 GCACAGCCTGGACCCGGCGCT 0.677 37 48 --- --- --- --- PASS POLR1A 25885 broad.mit.edu 37 2 86258607 86258607 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:86258607G>A uc002sqs.2 - 30 4803 c.4424C>T c.(4423-4425)TCC>TTC p.S1475F POLR1A_uc010ytb.1_Missense_Mutation_p.S841F NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 1475 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 GGCGGGAAGGGACGGGTCCTC 0.592 26 42 --- --- --- --- PASS REEP1 65055 broad.mit.edu 37 2 86459855 86459855 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:86459855C>T uc002srh.3 - 6 632 c.488G>A c.(487-489)GGC>GAC p.G163D REEP1_uc010ytg.1_Missense_Mutation_p.G142D|REEP1_uc010yth.1_Missense_Mutation_p.G136D|REEP1_uc010yti.1_Missense_Mutation_p.A85T NM_022912 NP_075063 Q9H902 REEP1_HUMAN receptor accessory protein 1 isoform 2 163 cell death|protein insertion into membrane integral to membrane|mitochondrial membrane olfactory receptor binding 0 AGCAGGGGCGCCGTCTCCCCT 0.657 5 27 --- --- --- --- PASS REEP1 65055 broad.mit.edu 37 2 86459856 86459856 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:86459856C>T uc002srh.3 - 6 631 c.487G>A c.(487-489)GGC>AGC p.G163S REEP1_uc010ytg.1_Missense_Mutation_p.G142S|REEP1_uc010yth.1_Missense_Mutation_p.G136S|REEP1_uc010yti.1_Silent_p.T84T NM_022912 NP_075063 Q9H902 REEP1_HUMAN receptor accessory protein 1 isoform 2 163 cell death|protein insertion into membrane integral to membrane|mitochondrial membrane olfactory receptor binding 0 GCAGGGGCGCCGTCTCCCCTG 0.657 7 26 --- --- --- --- PASS RNF103 7844 broad.mit.edu 37 2 86831609 86831609 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:86831609G>A uc002srn.2 - 4 2384 c.1415C>T c.(1414-1416)TCT>TTT p.S472F VPS24_uc010ytl.1_Intron|RNF103_uc002srm.2_Missense_Mutation_p.S333F|uc002sro.2_Intron NM_005667 NP_005658 O00237 RN103_HUMAN ring finger protein 103 472 central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1) 1 GTTCTGAAAAGAAGCAATCGG 0.458 23 39 --- --- --- --- PASS CD8B 926 broad.mit.edu 37 2 87042750 87042750 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:87042750G>A uc002srw.2 - 6 762 c.712C>T c.(712-714)CCA>TCA p.P238S RMND5A_uc002srs.3_Intron|CD8B_uc002srx.2_3'UTR|CD8B_uc002sry.2_Missense_Mutation_p.P208S|CD8B_uc010fgt.2_Silent_p.T195T NM_172213 NP_757362 P10966 CD8B_HUMAN CD8b antigen isoform 2 precursor Error:Variant_position_missing_in_P10966_after_alignment immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction early endosome|extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding upper_aerodigestive_tract(1)|skin(1) 2 AGGATCCATGGGTTAAGCAGC 0.483 98 231 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90212096 90212096 + RNA SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:90212096C>T uc010fhm.2 + 26 c.3520C>T Parts of antibodies, mostly variable regions. CCTGGCCAGGCTCCCAGGCTC 0.592 34 49 --- --- --- --- PASS MAL 4118 broad.mit.edu 37 2 95713853 95713853 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:95713853G>A uc002stx.1 + 2 302 c.243G>A c.(241-243)GAG>GAA p.E81E MAL_uc002sty.1_Intron|MAL_uc002stz.1_Silent_p.E81E|MAL_uc002sua.1_Intron NM_002371 NP_002362 P21145 MAL_HUMAN T-lymphocyte maturation-associated protein 81 Cytoplasmic (Potential).|MARVEL. apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath 0 STAD - Stomach adenocarcinoma(1183;0.18) ACGGTGGAGAGACTTCCTGGG 0.602 15 28 --- --- --- --- PASS KCNIP3 30818 broad.mit.edu 37 2 96040136 96040136 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:96040136G>A uc002sup.2 + 3 389 c.274G>A c.(274-276)GAG>AAG p.E92K KCNIP3_uc002suq.2_Missense_Mutation_p.E66K NM_013434 NP_038462 Q9Y2W7 CSEN_HUMAN Kv channel interacting protein 3 isoform 1 92 EF-hand 1; degenerate. apoptosis|signal transduction|transcription, DNA-dependent endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity breast(2)|ovary(1) 3 READ - Rectum adenocarcinoma(193;0.13) CACCAAGAAGGAGCTGCAGTC 0.602 12 37 --- --- --- --- PASS GPAT2 150763 broad.mit.edu 37 2 96690582 96690582 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:96690582C>T uc002svf.2 - 14 1590 c.1367G>A c.(1366-1368)GGG>GAG p.G456E GPAT2_uc002svd.2_Missense_Mutation_p.G269E|GPAT2_uc002sve.2_Missense_Mutation_p.G258E|GPAT2_uc002svg.2_Missense_Mutation_p.G329E|GPAT2_uc010yuh.1_Missense_Mutation_p.G385E|GPAT2_uc002svh.2_Missense_Mutation_p.G456E NM_207328 NP_997211 Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, 456 Helical; (Potential). glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity 0 CGCAGAGCTCCCTACACTGGC 0.617 26 63 --- --- --- --- PASS ARID5A 10865 broad.mit.edu 37 2 97216904 97216904 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:97216904G>A uc002swe.2 + 7 739 c.639G>A c.(637-639)AGG>AGA p.R213R ARID5A_uc010yuq.1_Silent_p.R161R|ARID5A_uc002swf.2_Silent_p.R49R|ARID5A_uc002swg.2_Silent_p.R161R NM_212481 NP_997646 Q03989 ARI5A_HUMAN AT rich interactive domain 5A 213 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding 0 AGCCCCCCAGGAACAGCACAG 0.587 29 49 --- --- --- --- PASS ANKRD23 200539 broad.mit.edu 37 2 97505485 97505485 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:97505485G>A uc002sxa.2 - 8 830 c.801C>T c.(799-801)GCC>GCT p.A267A ANKRD23_uc002sxb.2_RNA|ANKRD23_uc002sxc.2_Silent_p.A225A NM_144994 NP_659431 Q86SG2 ANR23_HUMAN diabetes related ankyrin repeat protein 267 ANK 4. nucleus ovary(1) 1 CCCCCAGCTCGGCCCCATAGA 0.672 9 17 --- --- --- --- PASS ZAP70 7535 broad.mit.edu 37 2 98340855 98340855 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:98340855G>A uc002syd.1 + 3 563 c.356G>A c.(355-357)CGA>CAA p.R119Q ZAP70_uc010yvf.1_Missense_Mutation_p.R119Q|ZAP70_uc002sye.1_5'Flank NM_001079 NP_001070 P43403 ZAP70_HUMAN zeta-chain associated protein kinase 70kDa 119 Interdomain A. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 GACTGCCTGCGAGACGCCATG 0.716 3 1 --- --- --- --- PASS TMEM131 23505 broad.mit.edu 37 2 98411486 98411486 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:98411486G>A uc002syh.3 - 29 3522 c.3293C>T c.(3292-3294)TCC>TTC p.S1098F NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 1098 Helical; (Potential). integral to membrane ovary(4)|central_nervous_system(2) 6 GTAAGGAAGGGATGCATTCAA 0.398 12 31 --- --- --- --- PASS VWA3B 200403 broad.mit.edu 37 2 98846523 98846523 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:98846523G>A uc002syo.2 + 16 2425 c.2161G>A c.(2161-2163)GAA>AAA p.E721K VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.E240K|VWA3B_uc002sym.2_Missense_Mutation_p.E721K|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.E378K|VWA3B_uc002syp.1_Missense_Mutation_p.E113K|VWA3B_uc002syq.1_5'UTR|VWA3B_uc002syr.1_Missense_Mutation_p.E38K NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 721 ovary(3)|large_intestine(2)|skin(1) 6 GCATCAAAAGGAAATCTGTTC 0.358 21 33 --- --- --- --- PASS VWA3B 200403 broad.mit.edu 37 2 98852942 98852942 + Splice_Site SNP T G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:98852942T>G uc002syo.2 + 18 2780 c.2516_splice c.e18+2 p.D839_splice VWA3B_uc002syk.1_Splice_Site|VWA3B_uc002syl.1_Splice_Site_p.D358_splice|VWA3B_uc002sym.2_Splice_Site_p.D839_splice|VWA3B_uc002syn.1_Splice_Site|VWA3B_uc010yvi.1_Splice_Site_p.D496_splice|VWA3B_uc002syp.1_Splice_Site_p.D231_splice|VWA3B_uc002syq.1_Splice_Site_p.D115_splice|VWA3B_uc002syr.1_Splice_Site_p.D156_splice|VWA3B_uc010fih.1_5'Flank NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B ovary(3)|large_intestine(2)|skin(1) 6 TGACCACGAGTGAGTTCTTTA 0.428 26 56 --- --- --- --- PASS VWA3B 200403 broad.mit.edu 37 2 98916627 98916627 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:98916627A>G uc002syo.2 + 25 3632 c.3368A>G c.(3367-3369)AAG>AGG p.K1123R VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.K780R|VWA3B_uc002syp.1_Missense_Mutation_p.K515R|VWA3B_uc002syq.1_Missense_Mutation_p.K399R|VWA3B_uc002syr.1_Missense_Mutation_p.K440R|VWA3B_uc002sys.2_RNA NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1123 ovary(3)|large_intestine(2)|skin(1) 6 CTTCCCAATAAGCATGTGGCC 0.413 30 48 --- --- --- --- PASS CNGA3 1261 broad.mit.edu 37 2 98996811 98996811 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:98996811G>A uc002syt.2 + 4 806 c.389G>A c.(388-390)GGG>GAG p.G130E CNGA3_uc002syu.2_Missense_Mutation_p.G130E|CNGA3_uc010fij.2_Missense_Mutation_p.G134E NM_001298 NP_001289 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 isoform 130 signal transduction|visual perception integral to membrane cGMP binding ovary(5)|upper_aerodigestive_tract(1) 6 GCAGACAGAGGGAGAAGGTAA 0.572 8 12 --- --- --- --- PASS MGAT4A 11320 broad.mit.edu 37 2 99251711 99251711 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:99251711C>T uc002sze.2 - 14 1756 c.1442G>A c.(1441-1443)CGA>CAA p.R481Q C2orf64_uc002sza.2_Intron|MGAT4A_uc010yvm.1_Missense_Mutation_p.R353Q|MGAT4A_uc010fil.2_Missense_Mutation_p.R235Q NM_012214 NP_036346 Q9UM21 MGT4A_HUMAN alpha-1,3-mannosyl-glycoprotein 481 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding skin(1) 1 ATCTTCTAATCGTTTGTCTTT 0.274 13 22 --- --- --- --- PASS REV1 51455 broad.mit.edu 37 2 100055666 100055666 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:100055666C>T uc002tad.2 - 6 822 c.610G>A c.(610-612)GAG>AAG p.E204K REV1_uc002tac.2_Missense_Mutation_p.E204K|REV1_uc002tae.1_Missense_Mutation_p.E183K NM_016316 NP_057400 Q9UBZ9 REV1_HUMAN REV1-like isoform 1 204 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding ovary(2) 2 GAGGTCTGCTCCAGATCCACA 0.413 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 14 34 --- --- --- --- PASS AFF3 3899 broad.mit.edu 37 2 100623893 100623893 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:100623893C>T uc002tag.2 - 5 440 c.204G>A c.(202-204)CGG>CGA p.R68R AFF3_uc002taf.2_Silent_p.R93R|AFF3_uc010fiq.1_Silent_p.R68R|AFF3_uc010yvr.1_Silent_p.R222R|AFF3_uc002tah.1_Silent_p.R93R|AFF3_uc010fir.1_Silent_p.R145R|AFF3_uc002tai.2_5'UTR NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 68 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 TGTTCTGGATCCGGTTGGAGA 0.433 31 56 --- --- --- --- PASS SLC9A4 389015 broad.mit.edu 37 2 103128667 103128667 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:103128667G>A uc002tbz.3 + 7 1951 c.1494G>A c.(1492-1494)ATG>ATA p.M498I NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 498 Cytoplasmic (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 GGCAGCTGATGGATCACTTAA 0.448 29 57 --- --- --- --- PASS SLC9A2 6549 broad.mit.edu 37 2 103322321 103322321 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:103322321C>T uc002tca.2 + 11 2136 c.1994C>T c.(1993-1995)TCC>TTC p.S665F NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN solute carrier family 9 (sodium/hydrogen 665 Cytoplasmic (Potential). integral to membrane|plasma membrane sodium:hydrogen antiporter activity central_nervous_system(3)|skin(3)|breast(2) 8 ACTTCAACCTCCCGATATTTA 0.308 5 32 --- --- --- --- PASS ST6GAL2 84620 broad.mit.edu 37 2 107460166 107460166 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:107460166G>A uc002tdq.2 - 2 387 c.268C>T c.(268-270)CAT>TAT p.H90Y ST6GAL2_uc002tdr.2_Missense_Mutation_p.H90Y|ST6GAL2_uc002tds.3_Missense_Mutation_p.H90Y NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 90 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 GGCCCCGCATGAAAGGAACCG 0.627 9 31 --- --- --- --- PASS SULT1C3 442038 broad.mit.edu 37 2 108872116 108872116 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:108872116A>G uc010ywo.1 + 4 488 c.488A>G c.(487-489)AAC>AGC p.N163S NM_001008743 NP_001008743 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 163 cytoplasm alcohol sulfotransferase activity skin(1) 1 GATCCTCAGAACTTAGAGGAA 0.428 22 32 --- --- --- --- PASS SULT1C2 6819 broad.mit.edu 37 2 108910229 108910229 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:108910229G>A uc002tdy.2 + 2 559 c.106G>A c.(106-108)GAG>AAG p.E36K SULT1C2_uc010ywp.1_5'UTR|SULT1C2_uc002tdx.2_Missense_Mutation_p.E36K|SULT1C2_uc010ywq.1_Missense_Mutation_p.E36K NM_001056 NP_001047 O00338 ST1C2_HUMAN sulfotransferase family, cytosolic, 1C, member 1 36 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process cytosol|microtubule cytoskeleton sulfotransferase activity ovary(1) 1 CCAGAGCTTCGAGGCCAAACC 0.557 23 37 --- --- --- --- PASS SULT1C4 27233 broad.mit.edu 37 2 108998307 108998307 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:108998307C>T uc002tea.1 + 2 632 c.259C>T c.(259-261)CCT>TCT p.P87S SULT1C4_uc002tdz.2_Missense_Mutation_p.P87S|SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Missense_Mutation_p.P87S NM_006588 NP_006579 O75897 ST1C4_HUMAN sulfotransferase family, cytosolic, 1C, member 87 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol sulfotransferase activity 0 TCAACGATTTCCTTTCCTCGA 0.403 20 37 --- --- --- --- PASS POLR1B 84172 broad.mit.edu 37 2 113304673 113304673 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:113304673C>T uc002thw.2 + 2 842 c.262C>T c.(262-264)CCA>TCA p.P88S POLR1B_uc010fkn.2_Intron|POLR1B_uc002thx.2_5'UTR|POLR1B_uc010fko.2_Missense_Mutation_p.P88S|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Missense_Mutation_p.P126S|POLR1B_uc002thy.2_5'UTR|POLR1B_uc010yxo.1_Intron NM_019014 NP_061887 Q9H9Y6 RPA2_HUMAN RNA polymerase I polypeptide B isoform 1 88 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding ovary(1) 1 ACCTACAGTTCCAAAAGGGAC 0.453 29 43 --- --- --- --- PASS POLR1B 84172 broad.mit.edu 37 2 113308538 113308538 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:113308538C>T uc002thw.2 + 5 1301 c.721C>T c.(721-723)CGA>TGA p.R241* POLR1B_uc010fkn.2_Nonsense_Mutation_p.R185*|POLR1B_uc002thx.2_Nonsense_Mutation_p.R102*|POLR1B_uc010fko.2_Nonsense_Mutation_p.R241*|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Nonsense_Mutation_p.R279*|POLR1B_uc002thy.2_Nonsense_Mutation_p.R102*|POLR1B_uc010yxo.1_Nonsense_Mutation_p.R18* NM_019014 NP_061887 Q9H9Y6 RPA2_HUMAN RNA polymerase I polypeptide B isoform 1 241 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding ovary(1) 1 CTTTATTTACCGAAAAGAACT 0.378 16 70 --- --- --- --- PASS PAX8 7849 broad.mit.edu 37 2 113977710 113977710 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:113977710G>A uc010yxt.1 - 11 1401 c.1235C>T c.(1234-1236)TCC>TTC p.S412F PAX8_uc010yxu.1_Missense_Mutation_p.P386S|PAX8_uc010yxv.1_Missense_Mutation_p.S349F|PAX8_uc002tjm.2_Missense_Mutation_p.P309S|PAX8_uc002tjn.2_Missense_Mutation_p.P275S NM_003466 NP_003457 Q06710 PAX8_HUMAN paired box 8 isoform PAX8A 412 branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity ovary(1)|lung(1) 2 CTCGCTGTAGGAGGAGTAGGG 0.627 T PPARG follicular thyroid Thyroid dysgenesis 7 11 --- --- --- --- PASS RABL2A 11159 broad.mit.edu 37 2 114399678 114399678 + Missense_Mutation SNP C T T rs141631881 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:114399678C>T uc002tkn.3 + 9 873 c.659C>T c.(658-660)TCA>TTA p.S220L RABL2A_uc010flb.2_Missense_Mutation_p.S220L|RABL2A_uc002tkl.3_Missense_Mutation_p.S139L|RABL2A_uc002tkm.3_Missense_Mutation_p.S157L|RABL2A_uc002tks.3_Missense_Mutation_p.S221L|RABL2A_uc002tkr.2_Missense_Mutation_p.S221L|RABL2A_uc002tkp.3_Missense_Mutation_p.S221L NM_007082 NP_009013 Q9UBK7 RBL2A_HUMAN RAB, member of RAS oncogene family-like 2A 220 small GTPase mediated signal transduction GTP binding|GTPase activity skin(1) 1 GAGACCCCATCAGAGGAGGTG 0.587 8 22 --- --- --- --- PASS DPP10 57628 broad.mit.edu 37 2 116535395 116535395 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:116535395G>A uc002tla.1 + 15 1803 c.1346G>A c.(1345-1347)GGA>GAA p.G449E DPP10_uc002tlb.1_Missense_Mutation_p.G399E|DPP10_uc002tlc.1_Missense_Mutation_p.G445E|DPP10_uc002tle.2_Missense_Mutation_p.G453E|DPP10_uc002tlf.1_Missense_Mutation_p.G442E NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 449 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 TCTCCCAGAGGAAGGCAGCTG 0.403 28 28 --- --- --- --- PASS DPP10 57628 broad.mit.edu 37 2 116548737 116548737 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:116548737C>T uc002tla.1 + 18 2069 c.1612C>T c.(1612-1614)CTT>TTT p.L538F DPP10_uc002tlb.1_Missense_Mutation_p.L488F|DPP10_uc002tlc.1_Missense_Mutation_p.L534F|DPP10_uc002tle.2_Missense_Mutation_p.L542F|DPP10_uc002tlf.1_Missense_Mutation_p.L531F NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 538 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 AATTAAAATCCTTCATATTGA 0.338 12 24 --- --- --- --- PASS DPP10 57628 broad.mit.edu 37 2 116548746 116548746 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:116548746G>A uc002tla.1 + 18 2078 c.1621G>A c.(1621-1623)GAC>AAC p.D541N DPP10_uc002tlb.1_Missense_Mutation_p.D491N|DPP10_uc002tlc.1_Missense_Mutation_p.D537N|DPP10_uc002tle.2_Missense_Mutation_p.D545N|DPP10_uc002tlf.1_Missense_Mutation_p.D534N NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 541 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 CCTTCATATTGACGACTATGG 0.318 10 24 --- --- --- --- PASS MARCO 8685 broad.mit.edu 37 2 119750054 119750054 + Splice_Site SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:119750054T>C uc002tln.1 + 15 1384 c.1252_splice c.e15+2 p.G418_splice MARCO_uc010yyf.1_Splice_Site_p.G340_splice NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity ovary(3)|skin(2)|central_nervous_system(1) 6 GTGAAAGAGGTAATCACTATT 0.408 18 29 --- --- --- --- PASS PTPN4 5775 broad.mit.edu 37 2 120684190 120684190 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:120684190C>T uc002tmf.1 + 13 1789 c.1018C>T c.(1018-1020)CAA>TAA p.Q340* PTPN4_uc010flj.1_Nonsense_Mutation_p.Q53* NM_002830 NP_002821 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 340 cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity ovary(2) 2 Alendronate(DB00630) AACTGAAGTCCAATCAGTTCA 0.299 34 60 --- --- --- --- PASS GLI2 2736 broad.mit.edu 37 2 121712845 121712845 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:121712845G>A uc010flp.2 + 4 512 c.482G>A c.(481-483)AGG>AAG p.R161K GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_Missense_Mutation_p.R36K|GLI2_uc002tmw.1_Missense_Mutation_p.R161K NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 161 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) CTTAAGGAGAGGGGACTGTTT 0.597 17 20 --- --- --- --- PASS GLI2 2736 broad.mit.edu 37 2 121712846 121712846 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:121712846G>A uc010flp.2 + 4 513 c.483G>A c.(481-483)AGG>AGA p.R161R GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_Silent_p.R36R|GLI2_uc002tmw.1_Silent_p.R161R NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 161 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) TTAAGGAGAGGGGACTGTTTG 0.597 17 20 --- --- --- --- PASS GPR17 2840 broad.mit.edu 37 2 128408678 128408678 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:128408678C>T uc010yzn.1 + 4 1064 c.453C>T c.(451-453)ACC>ACT p.T151T LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Silent_p.T151T|GPR17_uc010yzo.1_Silent_p.T123T|GPR17_uc002tpd.2_Silent_p.T123T NM_001161415 NP_001154887 Q13304 GPR17_HUMAN G protein-coupled receptor 17 isoform a 151 Helical; Name=3; (Potential). integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled 0 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) ACTTCCTCACCTGCATCAGCG 0.597 29 45 --- --- --- --- PASS WDR33 55339 broad.mit.edu 37 2 128526523 128526523 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:128526523G>A uc002tpg.1 - 3 440 c.257C>T c.(256-258)GCA>GTA p.A86V WDR33_uc002tph.1_Missense_Mutation_p.A86V|WDR33_uc002tpi.1_Missense_Mutation_p.A86V NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN WD repeat domain 33 isoform 1 86 postreplication repair|spermatogenesis collagen|nucleus protein binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GTAATAACCTGCATCAGGCTG 0.303 17 46 --- --- --- --- PASS HS6ST1 9394 broad.mit.edu 37 2 129026283 129026283 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:129026283C>T uc002tpt.3 - 2 723 c.689G>A c.(688-690)TGG>TAG p.W230* NM_004807 NP_004798 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 230 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity pancreas(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) GCAGCCCGACCAGTCCGTGCC 0.652 14 19 --- --- --- --- PASS TUBA3E 112714 broad.mit.edu 37 2 130949436 130949436 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:130949436C>T uc002tqv.2 - 5 1422 c.1321G>A c.(1321-1323)GAA>AAA p.E441K NM_207312 NP_997195 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 441 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 Colorectal(110;0.1) GCCTCAGCTTCCACGGAATCC 0.567 27 45 --- --- --- --- PASS TUBA3E 112714 broad.mit.edu 37 2 130949526 130949526 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:130949526C>T uc002tqv.2 - 5 1332 c.1231G>A c.(1231-1233)GAA>AAA p.E411K NM_207312 NP_997195 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 411 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 Colorectal(110;0.1) TCCATGCCTTCGCCCACGTAC 0.602 41 65 --- --- --- --- PASS FAM123C 205147 broad.mit.edu 37 2 131520089 131520089 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:131520089G>A uc002trw.2 + 2 634 c.444G>A c.(442-444)AGG>AGA p.R148R FAM123C_uc010fmv.2_Silent_p.R148R|FAM123C_uc010fms.1_Silent_p.R148R|FAM123C_uc010fmt.1_Silent_p.R148R|FAM123C_uc010fmu.1_Silent_p.R148R NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 148 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GCATCCCGAGGAAGAGGATTT 0.607 21 39 --- --- --- --- PASS FAM123C 205147 broad.mit.edu 37 2 131521887 131521887 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:131521887C>T uc002trw.2 + 2 2432 c.2242C>T c.(2242-2244)CGT>TGT p.R748C FAM123C_uc010fmv.2_Missense_Mutation_p.R748C|FAM123C_uc010fms.1_Missense_Mutation_p.R748C|FAM123C_uc010fmt.1_Missense_Mutation_p.R748C|FAM123C_uc010fmu.1_Missense_Mutation_p.R748C NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 748 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GTGTCGAGATCGTGTCCAGGA 0.632 11 21 --- --- --- --- PASS POTEE 445582 broad.mit.edu 37 2 132021837 132021837 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:132021837G>A uc002tsn.2 + 15 2861 c.2809G>A c.(2809-2811)GAG>AAG p.E937K PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.E537K|POTEE_uc002tsl.2_Missense_Mutation_p.E519K|POTEE_uc010fmy.1_Missense_Mutation_p.E401K NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 937 Actin-like. ATP binding 0 CTCCTCCCTAGAGAAGAGCTA 0.627 7 157 --- --- --- --- PASS NCKAP5 344148 broad.mit.edu 37 2 133541729 133541729 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:133541729G>A uc002ttp.2 - 14 3029 c.2655C>T c.(2653-2655)GTC>GTT p.V885V NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 885 protein binding 0 TGGGGCACTGGACCCAGTCCC 0.582 24 38 --- --- --- --- PASS MGAT5 4249 broad.mit.edu 37 2 135012198 135012198 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:135012198G>T uc002ttv.1 + 1 369 c.224G>T c.(223-225)GGA>GTA p.G75V NM_002410 NP_002401 Q09328 MGT5A_HUMAN N-acetylglucosaminyltransferase V 75 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0964) CCATACGCTGGAGTCATGACA 0.517 15 47 --- --- --- --- PASS MGAT5 4249 broad.mit.edu 37 2 135075138 135075138 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:135075138C>T uc002ttv.1 + 3 590 c.445C>T c.(445-447)CCT>TCT p.P149S NM_002410 NP_002401 Q09328 MGT5A_HUMAN N-acetylglucosaminyltransferase V 149 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0964) TGTATTGCCTCCTATGGACGG 0.418 13 15 --- --- --- --- PASS MGAT5 4249 broad.mit.edu 37 2 135075139 135075139 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:135075139C>T uc002ttv.1 + 3 591 c.446C>T c.(445-447)CCT>CTT p.P149L NM_002410 NP_002401 Q09328 MGT5A_HUMAN N-acetylglucosaminyltransferase V 149 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0964) GTATTGCCTCCTATGGACGGC 0.418 13 15 --- --- --- --- PASS YSK4 80122 broad.mit.edu 37 2 135745407 135745407 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:135745407C>T uc002tue.1 - 7 1066 c.1035G>A c.(1033-1035)AGG>AGA p.R345R YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.R232R|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Silent_p.R73R|YSK4_uc002tui.3_Silent_p.R362R NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 345 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) TATCCTCTTCCCTAACTGCAG 0.363 9 19 --- --- --- --- PASS ZRANB3 84083 broad.mit.edu 37 2 135966512 135966512 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:135966512C>T uc002tum.2 - 18 2649 c.2532G>A c.(2530-2532)ATG>ATA p.M844I ZRANB3_uc002tuk.2_Missense_Mutation_p.M387I|ZRANB3_uc002tul.2_Missense_Mutation_p.M842I NM_032143 NP_115519 Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 844 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.135) TCACTTTGTCCATTGAGGCTA 0.383 20 38 --- --- --- --- PASS DARS 1615 broad.mit.edu 37 2 136701011 136701011 + Silent SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:136701011C>A uc002tux.1 - 5 544 c.360G>T c.(358-360)GTG>GTT p.V120V DARS_uc010fnj.1_Silent_p.V20V NM_001349 NP_001340 P14868 SYDC_HUMAN aspartyl-tRNA synthetase 120 aspartyl-tRNA aminoacylation|protein complex assembly cytosol|nuclear membrane|plasma membrane|soluble fraction aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.168) L-Aspartic Acid(DB00128) TCACTTTTCTCACAACACCTT 0.368 29 70 --- --- --- --- PASS THSD7B 80731 broad.mit.edu 37 2 138330102 138330102 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:138330102G>A uc002tva.1 + 16 3312 c.3312G>A c.(3310-3312)TGG>TGA p.W1104* THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) TGTCTGAGTGGGGACTTTGGA 0.463 15 38 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141607685 141607685 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:141607685G>A uc002tvj.1 - 29 5897 c.4925C>T c.(4924-4926)ACT>ATT p.T1642I LRP1B_uc010fnl.1_Missense_Mutation_p.T824I NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1642 Extracellular (Potential).|LDL-receptor class B 14. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGAAATAACAGTTTCTAACCC 0.303 TSP Lung(27;0.18) 20 40 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141665470 141665470 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:141665470C>T uc002tvj.1 - 22 4468 c.3496G>A c.(3496-3498)GGC>AGC p.G1166S LRP1B_uc010fnl.1_Missense_Mutation_p.G348S NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1166 Extracellular (Potential).|LDL-receptor class A 10. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCATCAGAGCCATCAGGACAA 0.428 TSP Lung(27;0.18) 36 111 --- --- --- --- PASS GTDC1 79712 broad.mit.edu 37 2 144903180 144903180 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:144903180C>T uc002tvp.2 - 5 585 c.306G>A c.(304-306)CAG>CAA p.Q102Q GTDC1_uc002tvo.2_Silent_p.Q102Q|GTDC1_uc002tvq.2_Silent_p.Q102Q|GTDC1_uc002tvr.2_Silent_p.Q102Q|GTDC1_uc010fnn.2_Silent_p.Q102Q|GTDC1_uc002tvs.2_Silent_p.Q70Q|GTDC1_uc010fno.2_5'UTR|GTDC1_uc002tvt.1_Silent_p.Q102Q NM_001006636 NP_001006637 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 102 biosynthetic process transferase activity, transferring glycosyl groups ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.0914) AATCCCTCTCCTGACATTTCT 0.413 21 31 --- --- --- --- PASS ACVR2A 92 broad.mit.edu 37 2 148672787 148672787 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:148672787T>A uc002twg.2 + 6 825 c.556T>A c.(556-558)TTA>ATA p.L186I ACVR2A_uc010zbn.1_Missense_Mutation_p.L78I|ACVR2A_uc002twh.2_Missense_Mutation_p.L186I NM_001616 NP_001607 P27037 AVR2A_HUMAN activin A receptor, type IIA precursor 186 Cytoplasmic (Potential). activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0969) ACCTTCTCCATTACTAGGTTT 0.393 19 42 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152348670 152348670 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:152348670C>T uc010fnx.2 - 145 19622 c.19431G>A c.(19429-19431)CAG>CAA p.Q6477Q NEB_uc002txr.2_Silent_p.Q2807Q|RIF1_uc002txp.2_Intron|NEB_uc010zbz.1_Silent_p.Q246Q|NEB_uc002txq.2_Silent_p.Q356Q|NEB_uc010zca.1_Silent_p.Q308Q|NEB_uc010zcb.1_Silent_p.Q246Q NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 6477 Nebulin 178.|Interaction with SVIL. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CCACTTTCCTCTGAATACCTC 0.443 36 106 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152582017 152582017 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:152582017C>T uc010fnx.2 - 6 543 c.352G>A c.(352-354)GAT>AAT p.D118N NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 118 Nebulin 2. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TCTGGAGTATCTGTTGTGCTG 0.388 30 79 --- --- --- --- PASS PRPF40A 55660 broad.mit.edu 37 2 153515797 153515797 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:153515797G>A uc002tyh.3 - 22 2418 c.2396C>T c.(2395-2397)TCC>TTC p.S799F PRPF40A_uc002tyg.3_Missense_Mutation_p.S255F|PRPF40A_uc010zcd.1_Missense_Mutation_p.S750F NM_017892 NP_060362 O75400 PR40A_HUMAN formin binding protein 3 826 mRNA processing|RNA splicing nuclear matrix|nuclear speck protein binding 0 TCGAGAGCGGGAACGTTTCCT 0.328 9 19 --- --- --- --- PASS GALNT13 114805 broad.mit.edu 37 2 155102469 155102469 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:155102469G>A uc002tyr.3 + 7 1398 c.831G>A c.(829-831)AGG>AGA p.R277R GALNT13_uc002tyt.3_Silent_p.R277R|GALNT13_uc010foc.1_Silent_p.R96R|GALNT13_uc010fod.2_Silent_p.R30R NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 277 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 TGGACAGGAGGAAAGGAGACA 0.378 11 34 --- --- --- --- PASS PKP4 8502 broad.mit.edu 37 2 159519805 159519805 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:159519805C>T uc002tzv.2 + 15 2685 c.2425C>T c.(2425-2427)CCA>TCA p.P809S PKP4_uc002tzu.2_Missense_Mutation_p.P809S|PKP4_uc002tzw.2_Missense_Mutation_p.P809S|PKP4_uc002tzx.2_Missense_Mutation_p.P466S|PKP4_uc002uaa.2_Missense_Mutation_p.P661S|uc002uab.1_Intron|PKP4_uc002uac.2_5'UTR NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a 809 cell adhesion desmosome protein binding ovary(5)|skin(2) 7 TGGTCCTATCCCAGGACTGTC 0.488 HNSCC(62;0.18) 14 28 --- --- --- --- PASS TANC1 85461 broad.mit.edu 37 2 160035121 160035121 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:160035121A>T uc002uag.2 + 14 2231 c.1957A>T c.(1957-1959)AAC>TAC p.N653Y TANC1_uc010fol.1_Missense_Mutation_p.N547Y|TANC1_uc010zcm.1_Missense_Mutation_p.N645Y|TANC1_uc010fom.1_Missense_Mutation_p.N459Y|TANC1_uc002uai.1_RNA NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 653 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 CTTCCCAGACAACAAAGACAT 0.512 17 42 --- --- --- --- PASS TANC1 85461 broad.mit.edu 37 2 160035487 160035487 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:160035487C>T uc002uag.2 + 14 2597 c.2323C>T c.(2323-2325)CAG>TAG p.Q775* TANC1_uc010fol.1_Nonsense_Mutation_p.Q669*|TANC1_uc010zcm.1_Nonsense_Mutation_p.Q767*|TANC1_uc010fom.1_Nonsense_Mutation_p.Q581*|TANC1_uc002uai.1_RNA NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 775 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 GCAGATCTTTCAGGCTATTAA 0.552 49 103 --- --- --- --- PASS BAZ2B 29994 broad.mit.edu 37 2 160287383 160287383 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:160287383G>A uc002uao.2 - 10 2537 c.2185C>T c.(2185-2187)CCA>TCA p.P729S BAZ2B_uc002uap.2_Missense_Mutation_p.P727S|BAZ2B_uc002uaq.1_Intron|BAZ2B_uc002uar.1_Missense_Mutation_p.P302S NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 729 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 CCAGAGTGTGGGCTTGAAGTA 0.408 19 52 --- --- --- --- PASS TBR1 10716 broad.mit.edu 37 2 162274740 162274740 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:162274740C>T uc002ubw.1 + 3 1178 c.876C>T c.(874-876)TCC>TCT p.S292S TBR1_uc010foy.2_Silent_p.S5S NM_006593 NP_006584 Q16650 TBR1_HUMAN T-box, brain, 1 292 T-box. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 ATCCGGATTCCCCCAACACTG 0.463 14 38 --- --- --- --- PASS KCNH7 90134 broad.mit.edu 37 2 163291736 163291736 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:163291736G>A uc002uch.1 - 8 2138 c.1926C>T c.(1924-1926)ATC>ATT p.I642I KCNH7_uc002uci.2_Silent_p.I635I NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 642 Helical; Name=Segment S6; (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) AAATTGAAAAGATTTTCTCCG 0.333 12 31 --- --- --- --- PASS FIGN 55137 broad.mit.edu 37 2 164466956 164466956 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:164466956C>T uc002uck.1 - 3 1697 c.1386G>A c.(1384-1386)AAG>AAA p.K462K NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 462 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 TGTCAGTATTCTTCAGTTGCT 0.552 11 30 --- --- --- --- PASS FIGN 55137 broad.mit.edu 37 2 164468023 164468023 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:164468023C>T uc002uck.1 - 3 630 c.319G>A c.(319-321)GAA>AAA p.E107K NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 107 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 TGCCAGGGTTCACTTTCATTT 0.502 37 72 --- --- --- --- PASS COBLL1 22837 broad.mit.edu 37 2 165557159 165557159 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:165557159G>A uc010zcw.1 - 13 1772 c.1648C>T c.(1648-1650)CCT>TCT p.P550S COBLL1_uc002ucp.2_Missense_Mutation_p.P484S|COBLL1_uc002ucq.2_Missense_Mutation_p.P445S|COBLL1_uc010zcx.1_Missense_Mutation_p.P491S|COBLL1_uc002ucs.1_RNA|COBLL1_uc002ucn.2_5'Flank|COBLL1_uc002uco.2_Missense_Mutation_p.P214S NM_014900 NP_055715 Q53SF7 COBL1_HUMAN COBL-like 1 522 ovary(2)|pancreas(1) 3 GATACAAAAGGAATATCTTGT 0.368 33 69 --- --- --- --- PASS SCN2A 6326 broad.mit.edu 37 2 166152501 166152501 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:166152501G>A uc002udc.2 + 2 458 c.168G>A c.(166-168)TTG>TTA p.L56L SCN2A_uc002udd.2_Silent_p.L56L|SCN2A_uc002ude.2_Silent_p.L56L NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 56 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) ACAGTGACTTGGAAGCAGGAA 0.448 11 26 --- --- --- --- PASS CSRNP3 80034 broad.mit.edu 37 2 166514360 166514360 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:166514360G>A uc002udf.2 + 5 614 c.238G>A c.(238-240)GGC>AGC p.G80S CSRNP3_uc002udg.2_Missense_Mutation_p.G80S NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 80 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 CAGGAGGCAAGGCTTCACAAG 0.517 21 27 --- --- --- --- PASS CSRNP3 80034 broad.mit.edu 37 2 166535936 166535936 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:166535936C>T uc002udf.2 + 7 1807 c.1431C>T c.(1429-1431)TTC>TTT p.F477F CSRNP3_uc002udg.2_Silent_p.F477F NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 477 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 CGGAGCAATTCGTTGACTATG 0.498 9 31 --- --- --- --- PASS TTC21B 79809 broad.mit.edu 37 2 166806105 166806105 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:166806105C>T uc002udk.2 - 2 284 c.151G>A c.(151-153)GGT>AGT p.G51S TTC21B_uc002udl.2_Missense_Mutation_p.G51S|uc002udm.1_RNA NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 51 cilium axoneme|cytoplasm|cytoskeleton binding ovary(2)|pancreas(2)|breast(1) 5 TAACACGTACCTTCCATTAAT 0.338 28 57 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166848822 166848822 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:166848822C>T uc010zcz.1 - 26 4948 c.4930G>A c.(4930-4932)GGG>AGG p.G1644R NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1655 Helical; Voltage-sensor; Name=S4 of repeat IV; (By similarity).|IV. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GTGCGGATCCCCTTTGCTCCT 0.502 57 85 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166850913 166850913 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:166850913C>T uc010zcz.1 - 25 4580 c.4562G>A c.(4561-4563)GGA>GAA p.G1521E NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1532 IV. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AAAGACCATTCCTTGAAATTT 0.348 24 41 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166897752 166897752 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:166897752C>T uc010zcz.1 - 13 2389 c.2371G>A c.(2371-2373)GTA>ATA p.V791I SCN1A_uc002udo.3_Missense_Mutation_p.V671I|SCN1A_uc010fpk.2_Missense_Mutation_p.V643I NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 802 Helical; Name=S2 of repeat II; (By similarity).|II. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AAGTTTCCTACTGTAAGCACA 0.353 18 43 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166905459 166905459 + Missense_Mutation SNP C T T rs121917928 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:166905459C>T uc010zcz.1 - 7 983 c.965G>A c.(964-966)AGA>AAA p.R322K SCN1A_uc002udo.3_Missense_Mutation_p.R191K|SCN1A_uc010fpk.2_Missense_Mutation_p.R191K NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 322 I. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) ATAATGATATCCTGTTTGAAA 0.294 6 24 --- --- --- --- PASS SCN9A 6335 broad.mit.edu 37 2 167055474 167055474 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:167055474G>A uc010fpl.2 - 27 5983 c.5642C>T c.(5641-5643)TCT>TTT p.S1881F uc002udp.2_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1892 IQ. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) GACAGTAGCAGACACATCCTC 0.393 57 72 --- --- --- --- PASS SCN9A 6335 broad.mit.edu 37 2 167060473 167060473 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:167060473G>A uc010fpl.2 - 26 5074 c.4733C>T c.(4732-4734)TCC>TTC p.S1578F uc002udp.2_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1589 Helical; Name=S3 of repeat IV; (Potential).|IV. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) ACCTACAATGGAGATAATCAC 0.323 7 9 --- --- --- --- PASS SCN9A 6335 broad.mit.edu 37 2 167141026 167141026 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:167141026G>A uc010fpl.2 - 12 2252 c.1911C>T c.(1909-1911)CTC>CTT p.L637L uc002udp.2_Intron|SCN9A_uc002udr.1_Silent_p.L508L|SCN9A_uc002uds.1_Silent_p.L508L|SCN9A_uc002udt.1_Silent_p.L508L NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 637 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) TGGGGAGCATGAGGGCTGAGC 0.547 20 35 --- --- --- --- PASS SCN7A 6332 broad.mit.edu 37 2 167300037 167300037 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:167300037C>T uc002udu.1 - 13 1903 c.1776G>A c.(1774-1776)ATG>ATA p.M592I SCN7A_uc010fpm.1_RNA NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 592 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 GAAGAAGAGCCATTCCTGCAA 0.289 4 11 --- --- --- --- PASS SCN7A 6332 broad.mit.edu 37 2 167300157 167300157 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:167300157C>T uc002udu.1 - 13 1783 c.1656G>A c.(1654-1656)ATG>ATA p.M552I SCN7A_uc010fpm.1_RNA NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 552 Helical; Name=S2 of repeat II; (By similarity). muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 TTTTAAAAATCATTTCTGCTG 0.313 3 5 --- --- --- --- PASS SCN7A 6332 broad.mit.edu 37 2 167301432 167301432 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:167301432G>A uc002udu.1 - 12 1593 c.1466C>T c.(1465-1467)CCC>CTC p.P489L SCN7A_uc010fpm.1_RNA NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 489 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 TAACCAACAGGGAGAACAATT 0.308 10 28 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168098389 168098389 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:168098389A>G uc002udx.2 + 7 1163 c.1145A>G c.(1144-1146)AAA>AGA p.K382R XIRP2_uc010fpn.2_Missense_Mutation_p.K415R|XIRP2_uc010fpo.2_Missense_Mutation_p.K382R|XIRP2_uc010fpp.2_Missense_Mutation_p.K382R|XIRP2_uc002udy.2_Missense_Mutation_p.K207R|XIRP2_uc010fpq.2_Missense_Mutation_p.K160R|XIRP2_uc010fpr.2_Missense_Mutation_p.K160R NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 207 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TATTCTGACAAAGAGATGACA 0.363 30 70 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168103270 168103270 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:168103270C>T uc002udx.2 + 8 5386 c.5368C>T c.(5368-5370)CTG>TTG p.L1790L XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.L1615L|XIRP2_uc010fpq.2_Silent_p.L1568L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1615 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AGGTACAAAACTGTTACTGAA 0.393 35 87 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168103905 168103905 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:168103905G>A uc002udx.2 + 8 6021 c.6003G>A c.(6001-6003)ATG>ATA p.M2001I XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.M1826I|XIRP2_uc010fpq.2_Missense_Mutation_p.M1779I|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1826 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GTCAAACTATGGGGAAATCTT 0.453 10 24 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168105874 168105874 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:168105874G>A uc002udx.2 + 8 7990 c.7972G>A c.(7972-7974)GAA>AAA p.E2658K XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E2483K|XIRP2_uc010fpq.2_Missense_Mutation_p.E2436K|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.E4K NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2483 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GATGAAAAAGGAAGTTTTACA 0.403 43 47 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168107429 168107429 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:168107429G>A uc002udx.2 + 8 9545 c.9527G>A c.(9526-9528)AGG>AAG p.R3176K XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R3001K|XIRP2_uc010fpq.2_Missense_Mutation_p.R2954K|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 3001 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TCTCCACCCAGGAGTCGCTCT 0.498 29 68 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168108255 168108255 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:168108255C>T uc002udx.2 + 8 10371 c.10353C>T c.(10351-10353)TTC>TTT p.F3451F XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.F3276F|XIRP2_uc010fpq.2_Silent_p.F3229F|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 3276 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GCTGTGACTTCAAGCATGCCC 0.403 14 21 --- --- --- --- PASS ABCB11 8647 broad.mit.edu 37 2 169830316 169830316 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:169830316C>T uc002ueo.1 - 13 1469 c.1343G>A c.(1342-1344)GGG>GAG p.G448E ABCB11_uc010zda.1_5'Flank|ABCB11_uc010zdb.1_5'Flank NM_003742 NP_003733 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 448 Cytoplasmic (Potential).|ABC transporter 1. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism ovary(2)|large_intestine(2)|breast(1) 5 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) TGTCATTTCCCCTGGTTTAAT 0.438 29 77 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170003310 170003310 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:170003310C>T uc002ues.2 - 69 12963 c.12750G>A c.(12748-12750)AAG>AAA p.K4250K NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 4250 LDL-receptor class B 37.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TAACGTCCTCCTTGAAGTCAC 0.383 13 31 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170063416 170063416 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:170063416G>A uc002ues.2 - 39 7027 c.6814C>T c.(6814-6816)CGT>TGT p.R2272C NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2272 LDL-receptor class B 23.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CTGCCATAACGAATCACTTCA 0.393 41 66 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170136994 170136994 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:170136994C>T uc002ues.2 - 11 1420 c.1207G>A c.(1207-1209)GAT>AAT p.D403N LRP2_uc010zdf.1_Missense_Mutation_p.D403N NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 403 Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ATTAACAAATCCCGACCATTG 0.493 8 28 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170136995 170136995 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:170136995C>T uc002ues.2 - 11 1419 c.1206G>A c.(1204-1206)CGG>CGA p.R402R LRP2_uc010zdf.1_Silent_p.R402R NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 402 Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TTAACAAATCCCGACCATTGG 0.493 8 28 --- --- --- --- PASS GAD1 2571 broad.mit.edu 37 2 171687555 171687555 + Missense_Mutation SNP C T T rs150945113 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:171687555C>T uc002ugi.2 + 5 822 c.400C>T c.(400-402)CGC>TGC p.R134C GAD1_uc002ugh.2_Missense_Mutation_p.R134C NM_000817 NP_000808 Q99259 DCE1_HUMAN glutamate decarboxylase 1 isoform GAD67 134 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(1) 1 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GACATTTGATCGCTCCACCAA 0.542 15 30 --- --- --- --- PASS GAD1 2571 broad.mit.edu 37 2 171716237 171716237 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:171716237G>A uc002ugi.2 + 17 2052 c.1630G>A c.(1630-1632)GCC>ACC p.A544T GAD1_uc010fqc.2_Missense_Mutation_p.A163T NM_000817 NP_000808 Q99259 DCE1_HUMAN glutamate decarboxylase 1 isoform GAD67 544 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(1) 1 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AAAAATCAAAGCCCTGATGAT 0.468 7 25 --- --- --- --- PASS TLK1 9874 broad.mit.edu 37 2 171974367 171974367 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:171974367C>T uc002ugn.2 - 2 612 c.140G>A c.(139-141)GGT>GAT p.G47D TLK1_uc002ugo.2_Missense_Mutation_p.G47D|TLK1_uc002ugp.2_Translation_Start_Site|TLK1_uc002ugq.2_RNA NM_012290 NP_036422 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 isoform 1 47 cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1) 1 ATCCATTGCACCTATTAAGAA 0.269 11 32 --- --- --- --- PASS TLK1 9874 broad.mit.edu 37 2 171974368 171974368 + Splice_Site SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:171974368C>T uc002ugn.2 - 2 612 c.140_splice c.e2-1 p.G47_splice TLK1_uc002ugo.2_Splice_Site_p.G47_splice|TLK1_uc002ugp.2_Splice_Site|TLK1_uc002ugq.2_Splice_Site NM_012290 NP_036422 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 isoform 1 cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1) 1 TCCATTGCACCTATTAAGAAA 0.269 8 32 --- --- --- --- PASS ITGA6 3655 broad.mit.edu 37 2 173352931 173352931 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:173352931G>A uc002uhp.1 + 19 2683 c.2480G>A c.(2479-2481)GGA>GAA p.G827E ITGA6_uc010zdy.1_Missense_Mutation_p.G708E|ITGA6_uc002uho.1_Missense_Mutation_p.G827E|ITGA6_uc010fqm.1_Missense_Mutation_p.G473E NM_001079818 NP_001073286 P23229 ITA6_HUMAN integrin alpha chain, alpha 6 isoform a 866 Extracellular (Potential). blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0979) GATGAAGTGGGAAGTTTAATA 0.378 9 34 --- --- --- --- PASS CHRNA1 1134 broad.mit.edu 37 2 175613498 175613498 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:175613498C>A uc002ujd.2 - 9 1205 c.1127G>T c.(1126-1128)AGA>ATA p.R376I uc002uiw.2_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.R351I NM_001039523 NP_001034612 P02708 ACHA_HUMAN nicotinic cholinergic receptor alpha 1 isoform a 376 Cytoplasmic. muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity ovary(2)|central_nervous_system(1)|skin(1) 4 TCTGGATGGTCTTTTCATTGT 0.393 OREG0015079 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 21 --- --- --- --- PASS KIAA1715 80856 broad.mit.edu 37 2 176812320 176812320 + Silent SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:176812320T>C uc002ukc.1 - 9 787 c.594A>G c.(592-594)CCA>CCG p.P198P KIAA1715_uc010zer.1_Silent_p.P198P|KIAA1715_uc010fqw.1_Silent_p.P264P|KIAA1715_uc010zes.1_Silent_p.P200P|KIAA1715_uc002ukd.1_Silent_p.P75P|KIAA1715_uc010zet.1_RNA NM_030650 NP_085153 Q9C0E8 LNP_HUMAN Lunapark 198 Cytoplasmic (Potential).|Pro-rich. integral to membrane protein binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0793) AACTGTCCTTTGGTGGTCCAG 0.522 13 33 --- --- --- --- PASS EVX2 344191 broad.mit.edu 37 2 176946977 176946977 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:176946977C>T uc010zeu.1 - 2 814 c.628G>A c.(628-630)GAG>AAG p.E210K NM_001080458 NP_001073927 Q03828 EVX2_HUMAN even-skipped homeobox 2 210 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) ACATAGTTCTCCCGGTAGAAC 0.662 3 5 --- --- --- --- PASS EVX2 344191 broad.mit.edu 37 2 176946978 176946978 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:176946978C>T uc010zeu.1 - 2 813 c.627G>A c.(625-627)CGG>CGA p.R209R NM_001080458 NP_001073927 Q03828 EVX2_HUMAN even-skipped homeobox 2 209 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) CATAGTTCTCCCGGTAGAACT 0.662 3 6 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179393301 179393301 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179393301C>T uc010zfg.1 - 309 99697 c.99473G>A c.(99472-99474)AGT>AAT p.S33158N uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S26853N|TTN_uc010zfi.1_Missense_Mutation_p.S26786N|TTN_uc010zfj.1_Missense_Mutation_p.S26661N|TTN_uc002umq.2_Missense_Mutation_p.S175N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 34085 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) TGGCTCGCCACTGATTTCACA 0.363 9 16 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179407953 179407953 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179407953C>T uc010zfg.1 - 296 89267 c.89043G>A c.(89041-89043)TGG>TGA p.W29681* uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.W23376*|TTN_uc010zfi.1_Nonsense_Mutation_p.W23309*|TTN_uc010zfj.1_Nonsense_Mutation_p.W23184* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30608 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) CAACCTTCATCCATCTCTCTG 0.448 64 133 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179408626 179408626 + Missense_Mutation SNP T G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179408626T>G uc010zfg.1 - 295 88765 c.88541A>C c.(88540-88542)AAA>ACA p.K29514T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K23209T|TTN_uc010zfi.1_Missense_Mutation_p.K23142T|TTN_uc010zfj.1_Missense_Mutation_p.K23017T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30441 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) AATTGTGTATTTTCCAGCATC 0.403 24 66 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179425385 179425385 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179425385C>T uc010zfg.1 - 275 77994 c.77770G>A c.(77770-77772)GAA>AAA p.E25924K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E19619K|TTN_uc010zfi.1_Missense_Mutation_p.E19552K|TTN_uc010zfj.1_Missense_Mutation_p.E19427K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 26851 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) TGGCTTGTTTCACGTTTTTCT 0.408 19 37 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179429955 179429955 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179429955G>A uc010zfg.1 - 275 73424 c.73200C>T c.(73198-73200)ATC>ATT p.I24400I uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.I18095I|TTN_uc010zfi.1_Silent_p.I18028I|TTN_uc010zfj.1_Silent_p.I17903I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 25327 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) TTTCTAAAACGATAACACTGA 0.428 24 62 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179430570 179430570 + Silent SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179430570A>G uc010zfg.1 - 275 72809 c.72585T>C c.(72583-72585)TTT>TTC p.F24195F uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.F17890F|TTN_uc010zfi.1_Silent_p.F17823F|TTN_uc010zfj.1_Silent_p.F17698F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 25122 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) CACCAACTCCAAATTCATTTT 0.433 61 141 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179431329 179431329 + Silent SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179431329T>C uc010zfg.1 - 275 72050 c.71826A>G c.(71824-71826)AAA>AAG p.K23942K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.K17637K|TTN_uc010zfi.1_Silent_p.K17570K|TTN_uc010zfj.1_Silent_p.K17445K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24869 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) CATAGATGGGTTTACCCCAGG 0.428 57 103 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179438046 179438046 + Silent SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179438046T>C uc010zfg.1 - 275 65333 c.65109A>G c.(65107-65109)AAA>AAG p.K21703K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.K15398K|TTN_uc010zfi.1_Silent_p.K15331K|TTN_uc010zfj.1_Silent_p.K15206K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22630 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) TTTTGTTGCATTTAATCCAGC 0.408 17 50 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179463551 179463551 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179463551C>T uc010zfg.1 - 240 49406 c.49182G>A c.(49180-49182)CGG>CGA p.R16394R uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.R10089R|TTN_uc010zfi.1_Silent_p.R10022R|TTN_uc010zfj.1_Silent_p.R9897R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17321 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) TTGCATATACCCGGAATTGAT 0.458 32 109 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179466246 179466246 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179466246C>T uc010zfg.1 - 236 47998 c.47774G>A c.(47773-47775)AGG>AAG p.R15925K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R9620K|TTN_uc010zfi.1_Missense_Mutation_p.R9553K|TTN_uc010zfj.1_Missense_Mutation_p.R9428K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16852 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) GCAACTACCCCTTGTGATATC 0.413 46 101 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179466788 179466788 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179466788C>T uc010zfg.1 - 233 47730 c.47506G>A c.(47506-47508)GGA>AGA p.G15836R uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G9531R|TTN_uc010zfi.1_Missense_Mutation_p.G9464R|TTN_uc010zfj.1_Missense_Mutation_p.G9339R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16763 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) GTTGGGCGTCCCTTGATGACA 0.423 31 76 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179479601 179479601 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179479601C>T uc010zfg.1 - 209 41253 c.41029G>A c.(41029-41031)GAG>AAG p.E13677K uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E7372K|TTN_uc010zfi.1_Missense_Mutation_p.E7305K|TTN_uc010zfj.1_Missense_Mutation_p.E7180K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14604 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) TGGATTTCCTCTGTGGGTCTG 0.363 10 4 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179528042 179528042 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179528042C>T uc010zfk.1 - 18 1637 c.1089G>A c.(1087-1089)AAG>AAA p.K363K TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron Q8WZ42 TITIN_HUMAN SubName: Full=Titin; Flags: Fragment; 11575 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) CAGGCAACTTCTTTTCTGGGA 0.378 32 62 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179530162 179530162 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179530162G>A uc010zfk.1 - 10 971 c.423C>T c.(421-423)GTC>GTT p.V141V TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron Q8WZ42 TITIN_HUMAN SubName: Full=Titin; Flags: Fragment; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCATTTCAGGGACAACTTCTT 0.358 38 93 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179552937 179552937 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179552937C>T uc010zfg.1 - 124 28704 c.28480G>A c.(28480-28482)GAA>AAA p.E9494K TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6155K|TTN_uc010fre.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10421 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) TAACTCCATTCCTCCTCTGCA 0.403 27 50 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179572409 179572409 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179572409C>T uc010zfg.1 - 97 25377 c.25153G>A c.(25153-25155)GAA>AAA p.E8385K TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5046K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9312 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) GGCTTTATTTCCCTGCCAGCC 0.498 15 30 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179576847 179576847 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179576847G>A uc010zfg.1 - 93 24202 c.23978C>T c.(23977-23979)TCC>TTC p.S7993F TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4654F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8920 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) TTTATACCAGGATACCCCAAT 0.423 21 40 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179587235 179587235 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179587235C>T uc010zfg.1 - 74 18771 c.18547G>A c.(18547-18549)GAC>AAC p.D6183N TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D2844N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7110 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) TGTTCAATGTCCTTTAATTGT 0.418 47 68 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179594458 179594458 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179594458C>T uc010zfg.1 - 60 15014 c.14790G>A c.(14788-14790)GGG>GGA p.G4930G TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.G1591G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5857 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) ACACATAAGTCCCACTATTTT 0.443 23 71 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179600793 179600793 + Missense_Mutation SNP G C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179600793G>C uc010zfg.1 - 47 10872 c.10648C>G c.(10648-10650)CCA>GCA p.P3550A TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P211A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4477 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) AAGGTTGGTGGATATGCCTCT 0.418 22 49 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179605701 179605701 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179605701C>T uc010zfh.1 - 46 11970 c.11746G>A c.(11746-11748)GAA>AAA p.E3916K TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.E3849K|TTN_uc010zfj.1_Missense_Mutation_p.E3724K|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 3853 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) TGGTTTTCTTCTGTAATTAAA 0.418 29 79 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179611958 179611958 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179611958C>T uc002unb.2 - 46 15393 c.15169G>A c.(15169-15171)GAG>AAG p.E5057K TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 1164 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) TCTAGTGTCTCCCCTGGGGGT 0.498 8 29 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179614163 179614163 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179614163C>T uc002unb.2 - 46 13188 c.12964G>A c.(12964-12966)GAG>AAG p.E4322K TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CGCACCTGCTCTTTCTGGTCT 0.408 23 50 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179621020 179621020 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179621020C>T uc010zfh.1 - 44 10894 c.10670G>A c.(10669-10671)GGA>GAA p.G3557E TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 3571 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) GCTGTATAGTCCTTGGTCTAC 0.398 27 87 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179621106 179621106 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179621106C>T uc010zfh.1 - 44 10808 c.10584G>A c.(10582-10584)AAG>AAA p.K3528K TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTCCTCTATCTTTGCACCTT 0.408 24 52 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179632527 179632527 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179632527C>T uc010zfg.1 - 40 9654 c.9430G>A c.(9430-9432)GGC>AGC p.G3144S TTN_uc010zfh.1_Missense_Mutation_p.G3098S|TTN_uc010zfi.1_Missense_Mutation_p.G3098S|TTN_uc010zfj.1_Missense_Mutation_p.G3098S|TTN_uc002unb.2_Missense_Mutation_p.G3144S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 3144 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) ACATCTCTGCCTTCTACAAAG 0.433 18 50 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179637867 179637867 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179637867T>A uc010zfg.1 - 33 8048 c.7824A>T c.(7822-7824)GAA>GAT p.E2608D TTN_uc010zfh.1_Missense_Mutation_p.E2562D|TTN_uc010zfi.1_Missense_Mutation_p.E2562D|TTN_uc010zfj.1_Missense_Mutation_p.E2562D|TTN_uc002unb.2_Missense_Mutation_p.E2608D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2608 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) ATGTCATATTTTCTCCCGCGT 0.274 10 28 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179640777 179640777 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179640777G>A uc010zfg.1 - 28 6038 c.5814C>T c.(5812-5814)GTC>GTT p.V1938V TTN_uc010zfh.1_Silent_p.V1892V|TTN_uc010zfi.1_Silent_p.V1892V|TTN_uc010zfj.1_Silent_p.V1892V|TTN_uc002unb.2_Silent_p.V1938V|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1938 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) CTCTCCTAAGGACAGACCTAA 0.453 45 86 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179648863 179648863 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179648863C>T uc010zfg.1 - 16 2933 c.2709G>A c.(2707-2709)GGG>GGA p.G903G TTN_uc010zfh.1_Silent_p.G857G|TTN_uc010zfi.1_Silent_p.G857G|TTN_uc010zfj.1_Silent_p.G857G|TTN_uc002unb.2_Silent_p.G903G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 903 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) TGATGCTCACCCCTACTTCCT 0.552 20 40 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179665191 179665191 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179665191C>T uc002und.2 - 4 739 c.514G>A c.(514-516)GGG>AGG p.G172R TTN_uc010zfg.1_Missense_Mutation_p.G172R|TTN_uc010zfh.1_Missense_Mutation_p.G172R|TTN_uc010zfi.1_Missense_Mutation_p.G172R|TTN_uc010zfj.1_Missense_Mutation_p.G172R|TTN_uc002unb.2_Missense_Mutation_p.G172R Q8WZ42 TITIN_HUMAN Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein. 172 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) GAATAGGTCCCTGAGTCCTCA 0.488 50 73 --- --- --- --- PASS CCDC141 285025 broad.mit.edu 37 2 179702390 179702390 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179702390C>T uc002unf.1 - 13 1888 c.1831G>A c.(1831-1833)GAC>AAC p.D611N CCDC141_uc002une.1_Missense_Mutation_p.D61N NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 611 protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CCCTCCTTGTCAGTGGACACC 0.532 30 52 --- --- --- --- PASS CCDC141 285025 broad.mit.edu 37 2 179733849 179733849 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179733849C>T uc002unf.1 - 5 721 c.664G>A c.(664-666)GAA>AAA p.E222K NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 222 protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CTTACCTCTTCCTTGACTTGA 0.318 22 42 --- --- --- --- PASS CCDC141 285025 broad.mit.edu 37 2 179736944 179736944 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:179736944G>A uc002unf.1 - 3 327 c.270C>T c.(268-270)CTC>CTT p.L90L NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 90 Potential. protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CCAGCCGAAGGAGGCTAAGTT 0.458 11 30 --- --- --- --- PASS DNAJC10 54431 broad.mit.edu 37 2 183593710 183593710 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:183593710C>T uc002uow.1 + 7 1037 c.622C>T c.(622-624)CGG>TGG p.R208W DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Missense_Mutation_p.R208W|DNAJC10_uc010fro.1_RNA NM_018981 NP_061854 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 208 Thioredoxin 1. apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding ovary(1)|large_intestine(1)|breast(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) CTTCATTTTTCGGTCTGGAAT 0.363 21 36 --- --- --- --- PASS NCKAP1 10787 broad.mit.edu 37 2 183841674 183841674 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:183841674C>T uc002upc.2 - 15 1831 c.1429G>A c.(1429-1431)GAT>AAT p.D477N NCKAP1_uc002upb.2_Missense_Mutation_p.D483N NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 isoform 1 477 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) ACTTCCCCATCTTCAACTGTA 0.254 6 12 --- --- --- --- PASS ZNF804A 91752 broad.mit.edu 37 2 185803648 185803648 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:185803648C>T uc002uph.2 + 4 4119 c.3525C>T c.(3523-3525)TCC>TCT p.S1175S NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1175 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 TTCCAGCTTCCGTTCTTCATC 0.512 28 80 --- --- --- --- PASS CALCRL 10203 broad.mit.edu 37 2 188247996 188247996 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:188247996C>T uc002upv.3 - 5 636 c.88G>A c.(88-90)GAC>AAC p.D30N CALCRL_uc010frt.2_Missense_Mutation_p.D30N NM_005795 NP_005786 Q16602 CALRL_HUMAN calcitonin receptor-like precursor 30 Extracellular (Potential). integral to plasma membrane lung(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) TGAATTGAGTCCTCAGGACTC 0.338 12 17 --- --- --- --- PASS CALCRL 10203 broad.mit.edu 37 2 188247997 188247997 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:188247997C>A uc002upv.3 - 5 635 c.87G>T c.(85-87)GAG>GAT p.E29D CALCRL_uc010frt.2_Missense_Mutation_p.E29D NM_005795 NP_005786 Q16602 CALRL_HUMAN calcitonin receptor-like precursor 29 Extracellular (Potential). integral to plasma membrane lung(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) GAATTGAGTCCTCAGGACTCT 0.338 12 17 --- --- --- --- PASS COL3A1 1281 broad.mit.edu 37 2 189852823 189852823 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:189852823C>T uc002uqj.1 + 6 662 c.545C>T c.(544-546)CCC>CTC p.P182L NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 182 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CCAGGCCCTCCCGGTCCCCCT 0.398 7 14 --- --- --- --- PASS COL3A1 1281 broad.mit.edu 37 2 189854873 189854873 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:189854873C>T uc002uqj.1 + 9 859 c.742C>T c.(742-744)CCA>TCA p.P248S COL3A1_uc010frw.1_5'Flank NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 248 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GCCTGGACCTCCAGTGAGTCT 0.368 11 26 --- --- --- --- PASS COL3A1 1281 broad.mit.edu 37 2 189870103 189870103 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:189870103G>A uc002uqj.1 + 41 3076 c.2959G>A c.(2959-2961)GGT>AGT p.G987S NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 987 Triple-helical region. ANGLS -> PSGQN (in Ref. 20; AA sequence). axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) AGGAGCTAACGGTCTCAGTGG 0.438 25 53 --- --- --- --- PASS MSTN 2660 broad.mit.edu 37 2 190922314 190922314 + Silent SNP C T T rs35791082 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:190922314C>T uc002urp.2 - 3 931 c.798G>A c.(796-798)AGG>AGA p.R266R NM_005259 NP_005250 O14793 GDF8_HUMAN myostatin precursor 266 muscle organ development|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity lung(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) GACCAAAATCCCTTCTGGATC 0.408 16 39 --- --- --- --- PASS NAB1 4664 broad.mit.edu 37 2 191524442 191524442 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:191524442C>T uc002usb.2 + 4 1112 c.540C>T c.(538-540)TCC>TCT p.S180S NAB1_uc010fsc.2_Silent_p.S180S|NAB1_uc010fsd.2_Silent_p.S180S|NAB1_uc002usc.2_Silent_p.S180S|NAB1_uc010zgh.1_Silent_p.S180S NM_005966 NP_005957 Q13506 NAB1_HUMAN NGFI-A binding protein 1 180 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109) ACCTGGGCTCCCCCGCGTCCC 0.632 10 8 --- --- --- --- PASS STAT4 6775 broad.mit.edu 37 2 192011344 192011344 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:192011344G>A uc002usm.1 - 3 522 c.268C>T c.(268-270)CTT>TTT p.L90F STAT4_uc010zgm.1_RNA|STAT4_uc010zgn.1_RNA|STAT4_uc010zgo.1_RNA|STAT4_uc002usn.1_Missense_Mutation_p.L90F|STAT4_uc002uso.2_Missense_Mutation_p.L90F|STAT4_uc002usp.3_Missense_Mutation_p.L90F|STAT4_uc010zgl.1_Missense_Mutation_p.L90F NM_003151 NP_003142 Q14765 STAT4_HUMAN signal transducer and activator of transcription 90 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) CTTACCTGAAGGACCTTCCTA 0.284 8 18 --- --- --- --- PASS STAT4 6775 broad.mit.edu 37 2 192011345 192011345 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:192011345G>A uc002usm.1 - 3 521 c.267C>T c.(265-267)GTC>GTT p.V89V STAT4_uc010zgm.1_RNA|STAT4_uc010zgn.1_RNA|STAT4_uc010zgo.1_RNA|STAT4_uc002usn.1_Silent_p.V89V|STAT4_uc002uso.2_Silent_p.V89V|STAT4_uc002usp.3_Silent_p.V89V|STAT4_uc010zgl.1_Silent_p.V89V NM_003151 NP_003142 Q14765 STAT4_HUMAN signal transducer and activator of transcription 89 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) TTACCTGAAGGACCTTCCTAA 0.284 8 17 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196671473 196671473 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:196671473C>T uc002utj.3 - 54 10268 c.10167G>A c.(10165-10167)AGG>AGA p.R3389R NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3389 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 CCTTGTCTGGCCTCAAGCAAC 0.408 11 19 --- --- --- --- PASS MARS2 92935 broad.mit.edu 37 2 198570720 198570720 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:198570720C>T uc002uuq.2 + 1 634 c.591C>T c.(589-591)CTC>CTT p.L197L uc002uup.2_Intron NM_138395 NP_612404 Q96GW9 SYMM_HUMAN methionine-tRNA synthetase 2 precursor 197 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 L-Methionine(DB00134) CTGTATCTCTCGAGAGCGGGC 0.587 16 27 --- --- --- --- PASS BOLL 66037 broad.mit.edu 37 2 198640396 198640396 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:198640396C>T uc002uus.2 - 5 655 c.345G>A c.(343-345)GGG>GGA p.G115G BOLL_uc002uur.2_Silent_p.G121G|BOLL_uc002uut.2_Silent_p.G127G|BOLL_uc010zha.1_Intron|BOLL_uc002uuu.1_Silent_p.G121G NM_033030 NP_149019 Q8N9W6 BOLL_HUMAN boule isoform 2 115 cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm nucleotide binding|protein binding|RNA binding|translation activator activity ovary(2) 2 TACGAGGGATCCCTACTTGTT 0.239 7 38 --- --- --- --- PASS PLCL1 5334 broad.mit.edu 37 2 198948736 198948736 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:198948736G>A uc010fsp.2 + 2 786 c.495G>A c.(493-495)GAG>GAA p.E165E PLCL1_uc002uuv.3_Silent_p.E86E NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 165 PH.|Interaction with PPP1C. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) CCATAAAAGAGATCAGACTGG 0.453 21 61 --- --- --- --- PASS MPP4 58538 broad.mit.edu 37 2 202519625 202519625 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:202519625C>T uc002uyk.3 - 18 1524 c.1316G>A c.(1315-1317)GGA>GAA p.G439E MPP4_uc002uyi.3_Missense_Mutation_p.G57E|MPP4_uc010ftj.2_Missense_Mutation_p.G432E|MPP4_uc010zhq.1_Missense_Mutation_p.G408E|MPP4_uc010zhr.1_Missense_Mutation_p.G415E|MPP4_uc010zhs.1_Missense_Mutation_p.G364E|MPP4_uc002uyj.3_Missense_Mutation_p.G404E|MPP4_uc010zht.1_Missense_Mutation_p.G381E|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.G395E NM_033066 NP_149055 Q96JB8 MPP4_HUMAN membrane protein, palmitoylated 4 439 Guanylate kinase-like. cytoplasm protein binding 0 CTCATTTACTCCAACACCAGA 0.353 5 23 --- --- --- --- PASS MPP4 58538 broad.mit.edu 37 2 202519626 202519626 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:202519626C>T uc002uyk.3 - 18 1523 c.1315G>A c.(1315-1317)GGA>AGA p.G439R MPP4_uc002uyi.3_Missense_Mutation_p.G57R|MPP4_uc010ftj.2_Missense_Mutation_p.G432R|MPP4_uc010zhq.1_Missense_Mutation_p.G408R|MPP4_uc010zhr.1_Missense_Mutation_p.G415R|MPP4_uc010zhs.1_Missense_Mutation_p.G364R|MPP4_uc002uyj.3_Missense_Mutation_p.G404R|MPP4_uc010zht.1_Missense_Mutation_p.G381R|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.G395R NM_033066 NP_149055 Q96JB8 MPP4_HUMAN membrane protein, palmitoylated 4 439 Guanylate kinase-like. cytoplasm protein binding 0 TCATTTACTCCAACACCAGAG 0.358 6 22 --- --- --- --- PASS ALS2 57679 broad.mit.edu 37 2 202593787 202593787 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:202593787G>T uc002uyo.2 - 14 3056 c.2700C>A c.(2698-2700)CCC>CCA p.P900P ALS2_uc002uyp.3_Silent_p.P900P|ALS2_uc010ftl.2_RNA NM_020919 NP_065970 Q96Q42 ALS2_HUMAN alsin isoform 1 900 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity skin(5)|lung(1)|breast(1) 7 TCATTTTTCCGGGGAAGGTCT 0.443 5 102 --- --- --- --- PASS ALS2CR8 79800 broad.mit.edu 37 2 203847162 203847162 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:203847162T>A uc002uzo.2 + 15 2337 c.2057T>A c.(2056-2058)CTT>CAT p.L686H ALS2CR8_uc010zia.1_Missense_Mutation_p.L610H|ALS2CR8_uc010zib.1_Missense_Mutation_p.L610H|ALS2CR8_uc010zic.1_Missense_Mutation_p.L598H|ALS2CR8_uc002uzp.2_Missense_Mutation_p.L686H NM_001104586 NP_001098056 Q8N187 AL2S8_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 686 large_intestine(1)|ovary(1) 2 CACTCAGCTCTTAGTAAGTTG 0.353 28 52 --- --- --- --- PASS PARD3B 117583 broad.mit.edu 37 2 206480410 206480410 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:206480410C>T uc002var.1 + 23 3698 c.3491C>T c.(3490-3492)CCC>CTC p.P1164L PARD3B_uc002vao.1_Missense_Mutation_p.P1063L|PARD3B_uc002vap.1_Missense_Mutation_p.P1102L|PARD3B_uc002vaq.1_Missense_Mutation_p.P1095L|uc010fuc.1_5'Flank NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 1164 cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CCTTCCCCTCCCCAGCACCAA 0.632 17 49 --- --- --- --- PASS PARD3B 117583 broad.mit.edu 37 2 206480411 206480411 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:206480411C>T uc002var.1 + 23 3699 c.3492C>T c.(3490-3492)CCC>CCT p.P1164P PARD3B_uc002vao.1_Silent_p.P1063P|PARD3B_uc002vap.1_Silent_p.P1102P|PARD3B_uc002vaq.1_Silent_p.P1095P|uc010fuc.1_5'Flank NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 1164 cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CTTCCCCTCCCCAGCACCAAA 0.627 17 49 --- --- --- --- PASS PLEKHM3 389072 broad.mit.edu 37 2 208841613 208841613 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:208841613G>A uc002vcl.2 - 3 1798 c.1308C>T c.(1306-1308)CTC>CTT p.L436L PLEKHM3_uc002vcm.2_Silent_p.L436L NM_001080475 NP_001073944 Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, 436 PH 2. intracellular signal transduction metal ion binding ovary(1) 1 TCTCAGCTCGGAGGCGAAGGA 0.547 14 26 --- --- --- --- PASS UNC80 285175 broad.mit.edu 37 2 210642019 210642019 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:210642019C>T uc010zjc.1 + 4 416 c.336C>T c.(334-336)CTC>CTT p.L112L UNC80_uc002vdj.1_Silent_p.L112L NM_032504 NP_115893 Q8N2C7 UNC80_HUMAN chromosome 2 open reading frame 21 isoform 1 112 integral to membrane 0 AGACAAAGCTCCTTCACACTC 0.532 28 49 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211513227 211513227 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:211513227G>A uc002vee.3 + 27 3499 c.3367G>A c.(3367-3369)GAC>AAC p.D1123N CPS1_uc010fur.2_Missense_Mutation_p.D1129N|CPS1_uc010fus.2_Missense_Mutation_p.D672N NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 1123 ATP-grasp 2. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AAAGTCTGTGGACTACCCCTG 0.323 21 42 --- --- --- --- PASS ERBB4 2066 broad.mit.edu 37 2 212285228 212285228 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:212285228G>A uc002veg.1 - 25 3171 c.3073C>T c.(3073-3075)CCT>TCT p.P1025S ERBB4_uc002veh.1_Missense_Mutation_p.P1025S|ERBB4_uc010zji.1_Missense_Mutation_p.P1015S|ERBB4_uc010zjj.1_Missense_Mutation_p.P1015S NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 1025 Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) AAAGCCTGAGGGACCAAGTAC 0.403 TSP Lung(8;0.080) 15 19 --- --- --- --- PASS SPAG16 79582 broad.mit.edu 37 2 214878802 214878802 + Splice_Site SNP G A A rs148142146 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:214878802G>A uc002veq.2 + 13 1619 c.1527_splice c.e13+1 p.T509_splice SPAG16_uc010fuz.1_Splice_Site_p.T360_splice|SPAG16_uc002ver.2_Splice_Site_p.T455_splice|SPAG16_uc010zjk.1_Splice_Site_p.T415_splice NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 isoform 1 cilium assembly cilium axoneme|flagellar axoneme ovary(1)|skin(1) 2 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) TGCAAGAACAGTAAGCAAATC 0.383 23 41 --- --- --- --- PASS VWC2L 402117 broad.mit.edu 37 2 215279217 215279217 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:215279217G>A uc002vet.2 + 2 430 c.300G>A c.(298-300)GTG>GTA p.V100V VWC2L_uc010zjl.1_Silent_p.V100V NM_001080500 NP_001073969 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain-containing 100 VWFC 1. extracellular region 0 GTACTAAAGTGGAACACAATG 0.413 9 30 --- --- --- --- PASS ABCA12 26154 broad.mit.edu 37 2 215831648 215831648 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:215831648G>A uc002vew.2 - 39 6028 c.5808C>T c.(5806-5808)TCC>TCT p.S1936S ABCA12_uc002vev.2_Silent_p.S1618S|ABCA12_uc010zjn.1_Silent_p.S863S NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 1936 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AAGCTGGAAGGGAGTGATAGC 0.383 14 23 --- --- --- --- PASS FN1 2335 broad.mit.edu 37 2 216251538 216251538 + Missense_Mutation SNP G A A rs139078629 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:216251538G>A uc002vfa.2 - 28 4752 c.4486C>T c.(4486-4488)CGG>TGG p.R1496W FN1_uc002vfb.2_Missense_Mutation_p.R1405W|FN1_uc002vfc.2_Missense_Mutation_p.R1405W|FN1_uc002vfd.2_Missense_Mutation_p.R1496W|FN1_uc002vfe.2_Missense_Mutation_p.R1405W|FN1_uc002vff.2_Missense_Mutation_p.R1405W|FN1_uc002vfg.2_Missense_Mutation_p.R1405W|FN1_uc002vfh.2_Missense_Mutation_p.R1405W|FN1_uc002vfi.2_Missense_Mutation_p.R1496W|FN1_uc002vfj.2_Missense_Mutation_p.R1496W|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Missense_Mutation_p.R123W NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGGGCACCCGATCTTCTCGA 0.547 16 23 --- --- --- --- PASS XRCC5 7520 broad.mit.edu 37 2 216983789 216983789 + Missense_Mutation SNP A C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:216983789A>C uc002vfy.2 + 5 532 c.392A>C c.(391-393)CAT>CCT p.H131P XRCC5_uc002vfz.2_Missense_Mutation_p.H17P NM_021141 NP_066964 P13010 XRCC5_HUMAN ATP-dependent DNA helicase II 131 double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding lung(1)|kidney(1) 2 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) GAGAAGAGGCATATTGAAATA 0.343 Direct_reversal_of_damage|NHEJ 10 25 --- --- --- --- PASS VIL1 7429 broad.mit.edu 37 2 219292727 219292727 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:219292727G>A uc002via.2 + 5 452 c.387G>A c.(385-387)GTG>GTA p.V129V VIL1_uc010zke.1_Intron|VIL1_uc002vib.2_Silent_p.V129V|VIL1_uc002vic.1_Silent_p.V129V NM_007127 NP_009058 P09327 VILI_HUMAN villin 1 129 Core. GMKHV->AMHKTS: Inhibits actin-severing activity and motility of the S.flexneri, does not inhibit activities regarding actin nucleation, actin capping and actin bundling, lamellipodium or ruffle localization and cell morphology; when associated with 86-N--E-91. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity ovary(1) 1 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGAAGCACGTGGAGACCAACT 0.617 40 89 --- --- --- --- PASS STK36 27148 broad.mit.edu 37 2 219562286 219562286 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:219562286C>T uc002viu.2 + 24 3128 c.2862C>T c.(2860-2862)ATC>ATT p.I954I STK36_uc002viv.2_Silent_p.I933I|STK36_uc002viw.2_Silent_p.I132I|STK36_uc002vix.2_Missense_Mutation_p.P16S NM_015690 NP_056505 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 954 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 11 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) TCATGTCCATCCTGAAGCATC 0.577 20 44 --- --- --- --- PASS TTLL4 9654 broad.mit.edu 37 2 219617859 219617859 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:219617859G>A uc002viy.2 + 18 3579 c.3209G>A c.(3208-3210)TGG>TAG p.W1070* TTLL4_uc010zkl.1_Nonsense_Mutation_p.W905*|TTLL4_uc010fvx.2_Nonsense_Mutation_p.W1006*|TTLL4_uc010zkm.1_3'UTR NM_014640 NP_055455 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 1070 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity ovary(2)|skin(1) 3 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) CTCCGGAGTTGGTGCTACAAA 0.517 81 171 --- --- --- --- PASS PRKAG3 53632 broad.mit.edu 37 2 219692566 219692566 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:219692566C>T uc002vjb.1 - 7 829 c.810G>A c.(808-810)GAG>GAA p.E270E PRKAG3_uc010zkn.1_Intron|PRKAG3_uc010fvy.1_Missense_Mutation_p.R312K NM_017431 NP_059127 Q9UGI9 AAKG3_HUMAN AMP-activated protein kinase, non-catalytic 270 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding ovary(1)|lung(1) 2 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCCTCCAGGTCTCAATCTTAT 0.562 11 18 --- --- --- --- PASS CCDC108 255101 broad.mit.edu 37 2 219888009 219888009 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:219888009C>T uc002vjl.1 - 16 2824 c.2740G>A c.(2740-2742)GAG>AAG p.E914K NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 914 MSP. integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACCCTCCACTCGAACTGCAGG 0.632 5 14 --- --- --- --- PASS CCDC108 255101 broad.mit.edu 37 2 219894862 219894862 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:219894862G>A uc002vjl.1 - 10 1314 c.1230C>T c.(1228-1230)CCC>CCT p.P410P CCDC108_uc010fwa.1_5'UTR|CCDC108_uc010zkp.1_Silent_p.P399P|CCDC108_uc010zkq.1_Silent_p.P345P NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 410 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CATGGGCCGTGGGGCATGAGA 0.552 OREG0015211 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 42 --- --- --- --- PASS CCDC108 255101 broad.mit.edu 37 2 219894863 219894863 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:219894863G>A uc002vjl.1 - 10 1313 c.1229C>T c.(1228-1230)CCC>CTC p.P410L CCDC108_uc010fwa.1_5'UTR|CCDC108_uc010zkp.1_Missense_Mutation_p.P399L|CCDC108_uc010zkq.1_Missense_Mutation_p.P345L NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 410 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ATGGGCCGTGGGGCATGAGAA 0.557 OREG0015211 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 41 --- --- --- --- PASS DNAJB2 3300 broad.mit.edu 37 2 220147635 220147635 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:220147635C>T uc002vkx.1 + 6 666 c.429C>T c.(427-429)TCC>TCT p.S143S DNAJB2_uc002vkw.1_Silent_p.S143S|DNAJB2_uc002vky.2_5'UTR|DNAJB2_uc010zlb.1_5'UTR NM_006736 NP_006727 P25686 DNJB2_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 2 143 ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein inclusion body heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding 0 Renal(207;0.0474) Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCTCTTCCTCCTTCCCTGGGC 0.552 13 42 --- --- --- --- PASS DES 1674 broad.mit.edu 37 2 220286069 220286069 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:220286069C>T uc002vll.2 + 6 1117 c.1031C>T c.(1030-1032)TCC>TTC p.S344F NM_001927 NP_001918 P17661 DESM_HUMAN desmin 344 Rod.|Coil 2B. cytoskeleton organization|muscle filament sliding|regulation of heart contraction cytosol|Z disc protein binding|structural constituent of cytoskeleton central_nervous_system(2) 2 Renal(207;0.0183) Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008) CAGAACGATTCCCTGATGAGG 0.582 19 47 --- --- --- --- PASS ACCN4 55515 broad.mit.edu 37 2 220396842 220396842 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:220396842G>A uc002vma.2 + 3 1242 c.1228G>A c.(1228-1230)GAA>AAA p.E410K ACCN4_uc010fwi.1_Missense_Mutation_p.E410K|ACCN4_uc010fwj.1_Missense_Mutation_p.E410K|ACCN4_uc002vly.1_Missense_Mutation_p.E410K|ACCN4_uc002vlz.2_Missense_Mutation_p.E410K|ACCN4_uc002vmb.2_Missense_Mutation_p.E64K NM_182847 NP_878267 Q96FT7 ACCN4_HUMAN amiloride-sensitive cation channel 4 isoform 2 410 Extracellular (Potential). integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity ovary(2) 2 Renal(207;0.0183) Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156) GTCCTGCCAGGAACAGCGGGT 0.622 18 41 --- --- --- --- PASS OBSL1 23363 broad.mit.edu 37 2 220432668 220432668 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:220432668G>T uc010fwk.2 - 3 1363 c.1306C>A c.(1306-1308)CGG>AGG p.R436R OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Silent_p.R436R|OBSL1_uc002vmj.2_Silent_p.R23R NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 436 cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) TCGAGCTTCCGGGGCAGGCGC 0.642 11 19 --- --- --- --- PASS OBSL1 23363 broad.mit.edu 37 2 220432669 220432669 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:220432669G>A uc010fwk.2 - 3 1362 c.1305C>T c.(1303-1305)CCC>CCT p.P435P OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Silent_p.P435P|OBSL1_uc002vmj.2_Silent_p.P22P NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 435 cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CGAGCTTCCGGGGCAGGCGCT 0.642 11 17 --- --- --- --- PASS MOGAT1 116255 broad.mit.edu 37 2 223559194 223559194 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:223559194G>A uc010fws.1 + 4 640 c.592G>A c.(592-594)GGA>AGA p.G198R MOGAT1_uc010fwt.1_Missense_Mutation_p.G158R NM_058165 NP_477513 Q96PD6 MOGT1_HUMAN monoacylglycerol O-acyltransferase 1 198 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity breast(1) 1 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105) TGCTCATCCTGGAAAGTTCAC 0.448 17 29 --- --- --- --- PASS SCG2 7857 broad.mit.edu 37 2 224463020 224463020 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:224463020C>T uc002vnm.2 - 2 1114 c.981G>A c.(979-981)CAG>CAA p.Q327Q NM_003469 NP_003460 P13521 SCG2_HUMAN secretogranin II precursor 327 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity ovary(1) 1 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) TTTGCCCATTCTGTAACCTCC 0.403 26 72 --- --- --- --- PASS DOCK10 55619 broad.mit.edu 37 2 225662655 225662655 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:225662655G>A uc010fwz.1 - 42 4777 c.4538C>T c.(4537-4539)TCA>TTA p.S1513L DOCK10_uc002vob.2_Missense_Mutation_p.S1507L|DOCK10_uc002voa.2_Missense_Mutation_p.S169L|DOCK10_uc002voc.2_Missense_Mutation_p.S367L NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1513 GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TTTCATCAATGAATTTTGACA 0.343 28 46 --- --- --- --- PASS DOCK10 55619 broad.mit.edu 37 2 225710316 225710316 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:225710316A>G uc010fwz.1 - 20 2518 c.2279T>C c.(2278-2280)ATT>ACT p.I760T DOCK10_uc002vob.2_Missense_Mutation_p.I754T NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 760 DHR-1. GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) AGAAAACAAAATATGGTGTTT 0.388 31 70 --- --- --- --- PASS DOCK10 55619 broad.mit.edu 37 2 225714262 225714262 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:225714262C>T uc010fwz.1 - 19 2436 c.2197G>A c.(2197-2199)GTT>ATT p.V733I DOCK10_uc002vob.2_Missense_Mutation_p.V727I NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 733 DHR-1. GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TGGTGCAGAACTGCTGTGTAG 0.463 3 11 --- --- --- --- PASS KIAA1486 57624 broad.mit.edu 37 2 226447151 226447151 + Missense_Mutation SNP C T T rs138393299 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:226447151C>T uc002voe.2 + 4 1193 c.1018C>T c.(1018-1020)CCC>TCC p.P340S KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.P110S NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 340 Pro-rich. 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) GCTGGTATTTCCCCCCGCCCC 0.632 7 11 --- --- --- --- PASS COL4A3 1285 broad.mit.edu 37 2 228148505 228148505 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:228148505G>A uc002vom.1 + 33 2841 c.2679G>A c.(2677-2679)ATG>ATA p.M893I COL4A3_uc002von.1_Missense_Mutation_p.M893I|COL4A3_uc002voo.1_Missense_Mutation_p.M893I|COL4A3_uc002vop.1_Missense_Mutation_p.M893I|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 893 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) TGATTGGGATGATGGGCTTTC 0.463 18 56 --- --- --- --- PASS COL4A3 1285 broad.mit.edu 37 2 228157944 228157944 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:228157944G>A uc002vom.1 + 38 3410 c.3248G>A c.(3247-3249)GGA>GAA p.G1083E COL4A3_uc002von.1_Missense_Mutation_p.G1083E|COL4A3_uc002voo.1_Missense_Mutation_p.G1083E|COL4A3_uc002vop.1_Missense_Mutation_p.G1083E|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 1083 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGAAAGAAAGGAGAAATGGGG 0.512 13 22 --- --- --- --- PASS COL4A3 1285 broad.mit.edu 37 2 228172619 228172619 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:228172619C>T uc002vom.1 + 48 4608 c.4446C>T c.(4444-4446)GCC>GCT p.A1482A COL4A3_uc002von.1_Silent_p.A1482A|COL4A3_uc002voo.1_Silent_p.A1482A|COL4A3_uc002vop.1_Intron|uc002voq.1_Intron|uc002vor.1_Intron|COL4A3_uc010fxf.1_5'UTR NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 1482 Required for the anti-angiogenic activity of tumstatin.|Collagen IV NC1. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) ATCAACGAGCCCACGGACAAG 0.478 14 33 --- --- --- --- PASS COL4A3 1285 broad.mit.edu 37 2 228175576 228175576 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:228175576C>T uc002vom.1 + 51 5002 c.4840C>T c.(4840-4842)CTA>TTA p.L1614L COL4A3_uc002von.1_Intron|COL4A3_uc002voo.1_Intron|COL4A3_uc002vop.1_Intron|uc002voq.1_Intron|uc002vor.1_Intron|COL4A3_uc010fxf.1_Silent_p.L30L NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 1614 Required for the anti-tumor cell activity of tumstatin.|Collagen IV NC1. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) CAGCCCATTTCTAGAATGTCA 0.473 16 47 --- --- --- --- PASS C2orf83 56918 broad.mit.edu 37 2 228476363 228476363 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:228476363G>A uc002vph.2 - 3 435 c.200C>T c.(199-201)CCA>CTA p.P67L C2orf83_uc010zlu.1_3'UTR NM_020161 NP_064546 Q53S99 CB083_HUMAN hypothetical protein LOC56918 isoform 1 67 membrane folic acid binding|reduced folate carrier activity 0 TTTCTCAGATGGACTTAATAC 0.423 17 35 --- --- --- --- PASS WDR69 164781 broad.mit.edu 37 2 228786214 228786214 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:228786214G>A uc002vpn.1 + 12 1229 c.1150G>A c.(1150-1152)GAG>AAG p.E384K WDR69_uc010zlw.1_Missense_Mutation_p.E369K|WDR69_uc002vpo.1_RNA NM_178821 NP_849143 Q8N136 WDR69_HUMAN WD repeat domain 69 384 WD 7. breast(1) 1 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148) CCAGGTTCTTGAGGGGCACAC 0.438 28 38 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228846570 228846570 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:228846570C>T uc002vpq.2 - 12 5013 c.4966G>A c.(4966-4968)GAT>AAT p.D1656N SPHKAP_uc002vpp.2_Missense_Mutation_p.D1627N|SPHKAP_uc010zlx.1_Silent_p.*1485* NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1656 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TGCACGACATCTAGAAACTAA 0.468 17 33 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228881929 228881929 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:228881929C>T uc002vpq.2 - 7 3688 c.3641G>A c.(3640-3642)CGG>CAG p.R1214Q SPHKAP_uc002vpp.2_Missense_Mutation_p.R1214Q|SPHKAP_uc010zlx.1_Missense_Mutation_p.R1214Q NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1214 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CTGGCTGCTCCGTCTGGAGGA 0.577 22 41 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228882995 228882995 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:228882995C>T uc002vpq.2 - 7 2622 c.2575G>A c.(2575-2577)GGA>AGA p.G859R SPHKAP_uc002vpp.2_Missense_Mutation_p.G859R|SPHKAP_uc010zlx.1_Missense_Mutation_p.G859R NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 859 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GACCTTTGTCCTTCGGAAGAG 0.488 194 440 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228884579 228884579 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:228884579G>A uc002vpq.2 - 7 1038 c.991C>T c.(991-993)CAA>TAA p.Q331* SPHKAP_uc002vpp.2_Nonsense_Mutation_p.Q331*|SPHKAP_uc010zlx.1_Nonsense_Mutation_p.Q331* NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 331 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TTTTCCATTTGACCTTTAAAA 0.428 27 66 --- --- --- --- PASS SP140 11262 broad.mit.edu 37 2 231157413 231157413 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:231157413G>A uc002vql.2 + 20 1993 c.1878G>A c.(1876-1878)ACG>ACA p.T626T SP140_uc010zma.1_RNA|SP140_uc002vqn.2_Silent_p.T512T|SP140_uc002vqm.2_Silent_p.T566T|SP140_uc010fxl.2_Silent_p.T599T NM_007237 NP_009168 Q13342 LY10_HUMAN SP140 nuclear body protein isoform 1 626 SAND. defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TCACCCCCACGGAATTTGAAA 0.507 30 62 --- --- --- --- PASS SP140L 93349 broad.mit.edu 37 2 231256845 231256845 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:231256845C>T uc010fxm.1 + 12 1099 c.1008C>T c.(1006-1008)TTC>TTT p.F336F SP140L_uc010fxo.1_Silent_p.F108F NM_138402 NP_612411 Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 336 SAND. nucleus DNA binding|metal ion binding central_nervous_system(1) 1 GAAAATGGTTCACCCCCATGG 0.527 29 35 --- --- --- --- PASS HTR2B 3357 broad.mit.edu 37 2 231973782 231973782 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:231973782C>T uc002vro.2 - 4 1400 c.895G>A c.(895-897)GAA>AAA p.E299K PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Missense_Mutation_p.E232K NM_000867 NP_000858 P41595 5HT2B_HUMAN 5-hydroxytryptamine (serotonin) receptor 2B 299 Cytoplasmic (By similarity). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction cytoplasm|integral to membrane|plasma membrane calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity 0 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141) Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508) ATAAGTGTTTCATCACCTGAG 0.468 38 74 --- --- --- --- PASS MIR562 693147 broad.mit.edu 37 2 233037446 233037446 + RNA SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:233037446C>T hsa-mir-562|MI0003568 + c.84C>T DIS3L2_uc010fxz.2_Intron|DIS3L2_uc002vsm.3_Intron|DIS3L2_uc002vso.2_Intron 0 catttgcactccctgtggcaa 0.000 6 23 --- --- --- --- PASS CHRNG 1146 broad.mit.edu 37 2 233407197 233407197 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:233407197G>A uc002vsx.1 + 6 592 c.571G>A c.(571-573)GAG>AAG p.E191K CHRNG_uc010fye.1_Missense_Mutation_p.E139K NM_005199 NP_005190 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma 191 Extracellular (Potential). muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity 0 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) CCAGACCATCGAGTGGATTTT 0.572 8 33 --- --- --- --- PASS TRPM8 79054 broad.mit.edu 37 2 234846100 234846100 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:234846100C>T uc002vvh.2 + 4 335 c.295C>T c.(295-297)CCT>TCT p.P99S TRPM8_uc010fyj.2_5'UTR|TRPM8_uc002vvi.3_Missense_Mutation_p.P49S|TRPM8_uc002vvj.3_Missense_Mutation_p.P22S NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, 99 Cytoplasmic (Potential). integral to membrane skin(4) 4 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) CAAGGAATTTCCTACCGACGC 0.468 30 77 --- --- --- --- PASS COL6A3 1293 broad.mit.edu 37 2 238266024 238266024 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:238266024C>T uc002vwl.2 - 23 6833 c.6548G>A c.(6547-6549)GGG>GAG p.G2183E COL6A3_uc002vwo.2_Missense_Mutation_p.G1977E|COL6A3_uc010znj.1_Missense_Mutation_p.G1576E|COL6A3_uc002vwp.1_5'Flank NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 2183 Triple-helical region.|Collagen-like 3. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TCCATCTCTCCCTGGGACACC 0.498 72 157 --- --- --- --- PASS COL6A3 1293 broad.mit.edu 37 2 238289675 238289675 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:238289675C>T uc002vwl.2 - 5 2065 c.1780G>A c.(1780-1782)GAG>AAG p.E594K COL6A3_uc002vwo.2_Missense_Mutation_p.E388K|COL6A3_uc010znj.1_Missense_Mutation_p.E187K|COL6A3_uc002vwq.2_Missense_Mutation_p.E388K|COL6A3_uc002vwr.2_Missense_Mutation_p.E187K|COL6A3_uc010znk.1_Missense_Mutation_p.E594K NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 594 VWFA 3.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AAAGCGATCTCTTCCAGCTCA 0.582 15 25 --- --- --- --- PASS RBM44 375316 broad.mit.edu 37 2 238725710 238725710 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:238725710C>T uc002vxi.3 + 3 283 c.151C>T c.(151-153)CCT>TCT p.P51S NM_001080504 NP_001073973 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 50 nucleotide binding|RNA binding ovary(4) 4 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) ATTGACTTTTCCTGATGATGA 0.294 20 40 --- --- --- --- PASS PER2 8864 broad.mit.edu 37 2 239159302 239159302 + Silent SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:239159302A>T uc002vyc.2 - 21 3594 c.3357T>A c.(3355-3357)ACT>ACA p.T1119T PER2_uc010znv.1_Silent_p.T1119T NM_022817 NP_073728 O15055 PER2_HUMAN period 2 1119 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity upper_aerodigestive_tract(1)|breast(1) 2 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) CTTCCATACCAGTGTTCATTT 0.438 8 26 --- --- --- --- PASS PER2 8864 broad.mit.edu 37 2 239161815 239161815 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:239161815G>A uc002vyc.2 - 19 3086 c.2849C>T c.(2848-2850)CCC>CTC p.P950L PER2_uc010znv.1_Missense_Mutation_p.P950L NM_022817 NP_073728 O15055 PER2_HUMAN period 2 950 Pro-rich. circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity upper_aerodigestive_tract(1)|breast(1) 2 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) GGTCCGGCTGGGGAACTCAGG 0.657 18 22 --- --- --- --- PASS TRAF3IP1 26146 broad.mit.edu 37 2 239257465 239257465 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:239257465C>T uc002vye.2 + 11 1462 c.1343C>T c.(1342-1344)CCT>CTT p.P448L TRAF3IP1_uc002vyf.2_Missense_Mutation_p.P382L NM_015650 NP_056465 Q8TDR0 MIPT3_HUMAN TNF receptor-associated factor 3 interacting 448 DISC1-interaction domain. cytoplasm|cytoskeleton protein binding ovary(1) 1 all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182) Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184) CCAGAAATTCCTAATGAGCTT 0.403 25 75 --- --- --- --- PASS HDAC4 9759 broad.mit.edu 37 2 240078360 240078360 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:240078360G>A uc002vyk.3 - 7 1513 c.721C>T c.(721-723)CTT>TTT p.L241F HDAC4_uc010fyz.1_Missense_Mutation_p.L236F|HDAC4_uc010zoa.1_Missense_Mutation_p.L236F|HDAC4_uc010fza.2_Missense_Mutation_p.L241F|HDAC4_uc010fyy.2_Missense_Mutation_p.L193F|HDAC4_uc010znz.1_Missense_Mutation_p.L124F|HDAC4_uc010fzb.1_5'Flank NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 241 Interaction with MEF2A. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) GTTTTCCTAAGAGGGAAGTCA 0.612 24 46 --- --- --- --- PASS ANKMY1 51281 broad.mit.edu 37 2 241465144 241465144 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:241465144G>A uc002vyz.1 - 6 1255 c.1026C>T c.(1024-1026)TCC>TCT p.S342S ANKMY1_uc002vza.1_Silent_p.S201S|ANKMY1_uc010fzd.1_Silent_p.S431S|ANKMY1_uc002vzb.1_Silent_p.S201S|ANKMY1_uc002vzc.1_Silent_p.S201S|ANKMY1_uc002vzd.1_Silent_p.S201S|ANKMY1_uc010fze.1_Silent_p.S11S|ANKMY1_uc002vze.2_Silent_p.S103S NM_016552 NP_057636 Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 342 zinc ion binding central_nervous_system(1) 1 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) TGGGCTTGAAGGACTGGGCGG 0.582 8 27 --- --- --- --- PASS CAPN10 11132 broad.mit.edu 37 2 241536129 241536129 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:241536129C>T uc002vzk.1 + 9 1697 c.1513C>T c.(1513-1515)CCC>TCC p.P505S CAPN10_uc002vzl.1_Intron|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Missense_Mutation_p.P377S|CAPN10_uc002vzo.1_Intron|CAPN10_uc010fzg.1_Intron|CAPN10_uc002vzp.1_Intron|CAPN10_uc002vzq.1_Intron NM_023083 NP_075571 Q9HC96 CAN10_HUMAN calpain 10 isoform a 505 actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding ovary(3)|large_intestine(2)|lung(1) 6 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) GAACACCACCCCCGGGGCAGC 0.662 5 20 --- --- --- --- PASS CAPN10 11132 broad.mit.edu 37 2 241536287 241536287 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:241536287C>T uc002vzk.1 + 9 1855 c.1671C>T c.(1669-1671)GTC>GTT p.V557V CAPN10_uc002vzl.1_Intron|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Silent_p.V429V|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_Intron|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron NM_023083 NP_075571 Q9HC96 CAN10_HUMAN calpain 10 isoform a 557 Domain III 2. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding ovary(3)|large_intestine(2)|lung(1) 6 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) CCCGCTGCGTCCGCATCACTC 0.672 5 14 --- --- --- --- PASS KIF1A 547 broad.mit.edu 37 2 241689958 241689958 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:241689958G>A uc002vzy.2 - 26 2708 c.2562C>T c.(2560-2562)TTC>TTT p.F854F KIF1A_uc010fzk.2_Silent_p.F955F|KIF1A_uc002vzz.1_Silent_p.F955F NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 854 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) TCAGGTACACGAAGGCCCTGG 0.647 8 18 --- --- --- --- PASS CNTN4 152330 broad.mit.edu 37 3 2908551 2908551 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:2908551G>A uc003bpc.2 + 7 791 c.570G>A c.(568-570)GGG>GGA p.G190G CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Silent_p.G190G NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 190 Ig-like C2-type 2. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) CAGATGTTGGGAATTATACCT 0.408 30 17 --- --- --- --- PASS LRRN1 57633 broad.mit.edu 37 3 3887225 3887225 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:3887225C>T uc003bpt.3 + 2 1661 c.900C>T c.(898-900)CTC>CTT p.L300L SUMF1_uc003bps.1_Intron NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 precursor 300 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) TGGGCGAGCTCGTTTCTGTCG 0.453 42 31 --- --- --- --- PASS GRM7 2917 broad.mit.edu 37 3 7620869 7620869 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:7620869C>T uc003bqm.2 + 8 2550 c.2276C>T c.(2275-2277)TCC>TTC p.S759F GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.S759F|GRM7_uc003bql.2_Missense_Mutation_p.S759F|GRM7_uc003bqn.1_Missense_Mutation_p.S342F|GRM7_uc010hch.1_Missense_Mutation_p.S270F NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 759 Helical; Name=5; (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) ATCATTTGCTCCTTGGGATAT 0.448 37 24 --- --- --- --- PASS SETD5 55209 broad.mit.edu 37 3 9517345 9517345 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:9517345C>T uc003brt.2 + 23 4334 c.3899C>T c.(3898-3900)TCC>TTC p.S1300F SETD5_uc003bru.2_Missense_Mutation_p.S1202F|SETD5_uc003brv.2_Missense_Mutation_p.S1189F|SETD5_uc010hck.2_Missense_Mutation_p.S782F|SETD5_uc003brx.2_Missense_Mutation_p.S969F NM_001080517 NP_001073986 Q9C0A6 SETD5_HUMAN SET domain containing 5 1300 Ser-rich. ovary(2) 2 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) ACGTCCTATTCCAGCCCCGCC 0.552 34 24 --- --- --- --- PASS CRELD1 78987 broad.mit.edu 37 3 9986197 9986197 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:9986197C>T uc003bug.2 + 11 1315 c.1197C>T c.(1195-1197)GCC>GCT p.A399A CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_3'UTR|CRELD1_uc003buh.2_Silent_p.A399A|CRELD1_uc003bui.2_Silent_p.A399A|CRELD1_uc003buj.2_RNA NM_001077415 NP_001070883 Q96HD1 CREL1_HUMAN cysteine-rich with EGF-like domains 1 isoform 3 399 Helical; (Potential). cardiac septum development|endocardial cushion development integral to membrane calcium ion binding ovary(1) 1 CTGTGGCGGCCATGACTGGCT 0.592 33 8 --- --- --- --- PASS C3orf24 115795 broad.mit.edu 37 3 10146192 10146192 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:10146192C>T uc003buz.2 - 2 492 c.267G>A c.(265-267)AGG>AGA p.R89R C3orf24_uc003bva.1_Silent_p.R89R NM_173472 NP_775743 Q96PS1 CC024_HUMAN hypothetical protein LOC115795 89 0 OV - Ovarian serous cystadenocarcinoma(96;0.196) GCTGGGGCTTCCTGACCAGTC 0.532 27 20 --- --- --- --- PASS TATDN2 9797 broad.mit.edu 37 3 10290945 10290945 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:10290945C>A uc003bvg.2 + 2 642 c.61C>A c.(61-63)CGC>AGC p.R21S TATDN2_uc003bvf.2_Missense_Mutation_p.R21S|TATDN2_uc011atr.1_Missense_Mutation_p.R21S|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA NM_014760 NP_055575 Q93075 TATD2_HUMAN TatD DNase domain containing 2 21 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding pancreas(2) 2 AGGGTGTCCCCGCAAGCGCAG 0.682 5 25 --- --- --- --- PASS TATDN2 9797 broad.mit.edu 37 3 10312277 10312277 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:10312277C>T uc003bvg.2 + 4 1992 c.1411C>T c.(1411-1413)CCG>TCG p.P471S TATDN2_uc003bvf.2_Missense_Mutation_p.P471S|TATDN2_uc011atr.1_Missense_Mutation_p.P471S|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA NM_014760 NP_055575 Q93075 TATD2_HUMAN TatD DNase domain containing 2 471 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding pancreas(2) 2 GGAGATGCCTCCGCGTCCTTG 0.527 21 21 --- --- --- --- PASS GHRL 51738 broad.mit.edu 37 3 10331778 10331778 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:10331778G>A uc010hdf.2 - 2 222 c.87C>T c.(85-87)AGC>AGT p.S29S GHRLOS_uc011atx.1_Intron|GHRLOS_uc011aty.1_Intron|GHRLOS_uc011atz.1_Intron|GHRLOS_uc011aua.1_Intron|GHRLOS_uc010hdl.2_Intron|GHRLOS_uc011aub.1_Intron|GHRLOS_uc010hdm.2_Intron|GHRLOS_uc011auc.1_Intron|GHRLOS_uc011aud.1_Intron|GHRLOS_uc011aue.1_Intron|GHRLOS_uc011auf.1_Intron|GHRLOS_uc011aug.1_Intron|GHRLOS_uc011auh.1_Intron|GHRLOS_uc011aui.1_Intron|GHRLOS_uc011auj.1_Intron|GHRLOS_uc010hdn.2_Intron|GHRL_uc010hda.1_5'Flank|GHRL_uc010hdb.1_5'Flank|GHRL_uc003bvj.1_Silent_p.S29S|GHRL_uc003bvk.3_RNA|GHRL_uc010hdk.2_Intron|GHRL_uc010hdc.2_Intron|GHRL_uc010hdd.2_Intron|GHRL_uc010hde.2_Silent_p.S29S|GHRL_uc010hdi.2_Silent_p.S29S|GHRL_uc010hdh.2_Silent_p.S29S|GHRL_uc010hdj.2_Intron|GHRLOS_uc011auk.1_Intron NM_016362 NP_057446 Q9UBU3 GHRL_HUMAN ghrelin/obestatin isoform 1 preproprotein 29 actin polymerization or depolymerization|activation of MAPK activity|adult feeding behavior|cartilage development|cortisol secretion|decidualization|dendrite development|elevation of cytosolic calcium ion concentration|G-protein coupled receptor protein signaling pathway|glucose metabolic process|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of angiogenesis|negative regulation of circadian sleep/wake cycle, REM sleep|negative regulation of endothelial cell proliferation|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of circadian sleep/wake cycle, non-REM sleep|positive regulation of corticotropin secretion|positive regulation of cortisol secretion|positive regulation of growth hormone secretion|positive regulation of insulin secretion|positive regulation of synaptogenesis|response to estrogen stimulus axon|endoplasmic reticulum lumen|extracellular space|stored secretory granule ghrelin receptor binding|growth hormone-releasing hormone activity|protein tyrosine kinase activator activity ovary(1) 1 GGTGTTCAGGGCTCAGGAAGC 0.483 6 6 --- --- --- --- PASS MKRN2 23609 broad.mit.edu 37 3 12611664 12611664 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:12611664C>T uc003bxd.2 + 3 306 c.250C>T c.(250-252)CCT>TCT p.P84S MKRN2_uc003bxe.2_Missense_Mutation_p.P82S|MKRN2_uc011aus.1_Missense_Mutation_p.P41S NM_014160 NP_054879 Q9H000 MKRN2_HUMAN makorin ring finger protein 2 84 intracellular ligase activity|nucleic acid binding|zinc ion binding 0 TCCTCACCCTCCTTCCGAGGT 0.537 15 12 --- --- --- --- PASS MKRN2 23609 broad.mit.edu 37 3 12611665 12611665 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:12611665C>T uc003bxd.2 + 3 307 c.251C>T c.(250-252)CCT>CTT p.P84L MKRN2_uc003bxe.2_Missense_Mutation_p.P82L|MKRN2_uc011aus.1_Missense_Mutation_p.P41L NM_014160 NP_054879 Q9H000 MKRN2_HUMAN makorin ring finger protein 2 84 intracellular ligase activity|nucleic acid binding|zinc ion binding 0 CCTCACCCTCCTTCCGAGGTC 0.532 15 12 --- --- --- --- PASS C3orf20 84077 broad.mit.edu 37 3 14798904 14798904 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:14798904C>T uc003byy.2 + 13 2371 c.1967C>T c.(1966-1968)CCC>CTC p.P656L C3orf20_uc003byz.2_Missense_Mutation_p.P534L|C3orf20_uc003bza.2_Missense_Mutation_p.P534L|C3orf20_uc003bzb.1_Missense_Mutation_p.P157L|C3orf20_uc011avj.1_5'UTR NM_032137 NP_115513 Q8ND61 CC020_HUMAN hypothetical protein LOC84077 656 cytoplasm|integral to membrane ovary(3)|skin(1) 4 GGGCGCAGCCCCACCAGGTGG 0.667 7 11 --- --- --- --- PASS FGD5 152273 broad.mit.edu 37 3 14862877 14862877 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:14862877C>T uc003bzc.2 + 1 2409 c.2299C>T c.(2299-2301)CCC>TCC p.P767S FGD5_uc011avk.1_Missense_Mutation_p.P767S NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 767 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 CATCTCCTTCCCCAGCGCTGA 0.597 81 66 --- --- --- --- PASS NR2C2 7182 broad.mit.edu 37 3 15064743 15064743 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:15064743G>T uc003bzj.3 + 6 810 c.593G>T c.(592-594)CGG>CTG p.R198L NR2C2_uc003bzi.2_Missense_Mutation_p.R217L NM_003298 NP_003289 P49116 NR2C2_HUMAN nuclear receptor subfamily 2, group C, member 2 198 cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding 0 GATGTGCAACGGGAGAAACCA 0.423 4 46 --- --- --- --- PASS ZFYVE20 64145 broad.mit.edu 37 3 15131933 15131933 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:15131933G>A uc003bzm.1 - 5 876 c.262C>T c.(262-264)CCT>TCT p.P88S ZFYVE20_uc010hek.1_Missense_Mutation_p.P88S|ZFYVE20_uc011avn.1_Missense_Mutation_p.P88S NM_022340 NP_071735 Q9H1K0 RBNS5_HUMAN FYVE-finger-containing Rab5 effector protein 88 blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding skin(2) 2 CACATGTAAGGATCAACCCCT 0.333 40 27 --- --- --- --- PASS CAPN7 23473 broad.mit.edu 37 3 15288955 15288955 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:15288955G>T uc003bzn.2 + 19 2465 c.2195G>T c.(2194-2196)CGA>CTA p.R732L NM_014296 NP_055111 Q9Y6W3 CAN7_HUMAN calpain 7 732 Domain N. proteolysis nucleus calcium-dependent cysteine-type endopeptidase activity ovary(1) 1 ATTGAGCTACGAGGACCAAGG 0.294 4 70 --- --- --- --- PASS PLCL2 23228 broad.mit.edu 37 3 17051498 17051498 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:17051498C>T uc011awc.1 + 5 741 c.636C>T c.(634-636)GTC>GTT p.V212V PLCL2_uc010het.1_Silent_p.V94V|PLCL2_uc011awd.1_Silent_p.V94V NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 isoform 1 220 PH. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(2)|ovary(1)|lung(1) 4 CGTTTTCCGTCATATATGGAG 0.413 43 34 --- --- --- --- PASS KAT2B 8850 broad.mit.edu 37 3 20178441 20178441 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:20178441G>T uc003cbq.2 + 12 2203 c.1757G>T c.(1756-1758)GGA>GTA p.G586V hsa-mir-3135|MI0014156_5'Flank NM_003884 NP_003875 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 586 N-acetyltransferase. cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 CAGGGCTATGGAACACACCTG 0.343 18 12 --- --- --- --- PASS THRB 7068 broad.mit.edu 37 3 24164475 24164475 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:24164475C>A uc003ccx.3 - 11 1635 c.1286G>T c.(1285-1287)CGG>CTG p.R429L THRB_uc010hfe.2_Missense_Mutation_p.R429L|THRB_uc003ccy.3_Missense_Mutation_p.R429L|THRB_uc003ccz.3_Missense_Mutation_p.R424L NM_001128176 NP_001121648 P10828 THB_HUMAN thyroid hormone receptor, beta 429 Ligand-binding.|Interaction with NR2F6. R -> Q (in PRTH). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding skin(2)|pancreas(1) 3 Levothyroxine(DB00451)|Liothyronine(DB00279) TCCTATCATCCGCAGATCTGT 0.493 4 49 --- --- --- --- PASS GADL1 339896 broad.mit.edu 37 3 30827866 30827866 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:30827866C>T uc003cep.2 - 13 1330 c.1283G>A c.(1282-1284)GGA>GAA p.G428E NM_207359 NP_997242 Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 428 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding 0 Pyridoxal Phosphate(DB00114) TAACTTGAATCCTTCTCTTTT 0.299 8 12 --- --- --- --- PASS GADL1 339896 broad.mit.edu 37 3 30827867 30827867 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:30827867C>T uc003cep.2 - 13 1329 c.1282G>A c.(1282-1284)GGA>AGA p.G428R NM_207359 NP_997242 Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 428 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding 0 Pyridoxal Phosphate(DB00114) AACTTGAATCCTTCTCTTTTC 0.299 8 13 --- --- --- --- PASS STAC 6769 broad.mit.edu 37 3 36484932 36484932 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:36484932G>A uc003cgh.1 + 2 227 c.188G>A c.(187-189)CGA>CAA p.R63Q STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Missense_Mutation_p.R63Q NM_003149 NP_003140 Q99469 STAC_HUMAN SH3 and cysteine rich domain 63 intracellular signal transduction cytoplasm|soluble fraction metal ion binding skin(2)|ovary(1)|pancreas(1) 4 TTCTTCCAGCGAACCAACAGC 0.512 25 15 --- --- --- --- PASS DCLK3 85443 broad.mit.edu 37 3 36759619 36759619 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:36759619G>A uc003cgi.2 - 4 2126 c.1635C>T c.(1633-1635)ATC>ATT p.I545I NM_033403 NP_208382 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 545 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1) 9 CACACAGCAGGATATAGAGGA 0.572 71 62 --- --- --- --- PASS GOLGA4 2803 broad.mit.edu 37 3 37376547 37376547 + Missense_Mutation SNP C T T rs143296928 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:37376547C>T uc003cgv.2 + 17 6500 c.6196C>T c.(6196-6198)CGT>TGT p.R2066C GOLGA4_uc003cgw.2_Missense_Mutation_p.R2088C|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.R1947C NM_002078 NP_002069 Q13439 GOGA4_HUMAN golgi autoantigen, golgin subfamily a, 4 2066 Potential.|Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 CCTAAAGGCTCGTGAAGAAGA 0.368 9 4 --- --- --- --- PASS PLCD1 5333 broad.mit.edu 37 3 38052853 38052853 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:38052853G>A uc003chn.2 - 5 766 c.642C>T c.(640-642)ATC>ATT p.I214I PLCD1_uc003chm.2_Silent_p.I235I NM_006225 NP_006216 P51178 PLCD1_HUMAN phospholipase C, delta 1 isoform 2 214 intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) AGGTGCGGTCGATCTCCACCC 0.642 16 14 --- --- --- --- PASS XYLB 9942 broad.mit.edu 37 3 38401830 38401830 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:38401830G>A uc003cic.2 + 3 250 c.141G>A c.(139-141)GGG>GGA p.G47G XYLB_uc011ayp.1_Intron|XYLB_uc003cid.1_5'UTR NM_005108 NP_005099 O75191 XYLB_HUMAN xylulokinase 47 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) GTTCTTGCAGGACTCAGGGTG 0.512 28 26 --- --- --- --- PASS EXOG 9941 broad.mit.edu 37 3 38539252 38539252 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:38539252C>T uc003cih.2 + 2 392 c.296C>T c.(295-297)TCC>TTC p.S99F EXOG_uc010hhg.2_Intron|EXOG_uc011ayq.1_Intron|EXOG_uc003cij.2_5'UTR|EXOG_uc010hhd.2_Intron|EXOG_uc010hhe.2_Intron|EXOG_uc003cik.2_5'UTR|EXOG_uc010hhf.2_5'UTR|EXOG_uc003cii.2_Intron NM_005107 NP_005098 Q9Y2C4 EXOG_HUMAN endo/exonuclease (5'-3'), endonuclease G-like 99 mitochondrial inner membrane endonuclease activity|metal ion binding|nucleic acid binding 0 GAACATATTTCCAAAAGCAAG 0.368 29 21 --- --- --- --- PASS EXOG 9941 broad.mit.edu 37 3 38539253 38539253 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:38539253C>T uc003cih.2 + 2 393 c.297C>T c.(295-297)TCC>TCT p.S99S EXOG_uc010hhg.2_Intron|EXOG_uc011ayq.1_Intron|EXOG_uc003cij.2_5'UTR|EXOG_uc010hhd.2_Intron|EXOG_uc010hhe.2_Intron|EXOG_uc003cik.2_5'UTR|EXOG_uc010hhf.2_5'UTR|EXOG_uc003cii.2_Intron NM_005107 NP_005098 Q9Y2C4 EXOG_HUMAN endo/exonuclease (5'-3'), endonuclease G-like 99 mitochondrial inner membrane endonuclease activity|metal ion binding|nucleic acid binding 0 AACATATTTCCAAAAGCAAGA 0.363 28 21 --- --- --- --- PASS SCN5A 6331 broad.mit.edu 37 3 38645521 38645521 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:38645521G>A uc003cio.2 - 12 1766 c.1572C>T c.(1570-1572)TCC>TCT p.S524S SCN5A_uc003cin.2_Silent_p.S524S|SCN5A_uc003cil.3_Silent_p.S524S|SCN5A_uc010hhi.2_Silent_p.S524S|SCN5A_uc010hhk.2_Silent_p.S524S|SCN5A_uc011ayr.1_Silent_p.S524S|SCN5A_uc010hhj.1_Silent_p.S135S NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 524 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TCCCGCGGCTGGAACGTGGCT 0.557 5 2 --- --- --- --- PASS SCN10A 6336 broad.mit.edu 37 3 38768417 38768417 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:38768417G>A uc003ciq.2 - 16 2767 c.2767C>T c.(2767-2769)CGT>TGT p.R923C NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 923 sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGTTTGGTACGATGGCCAAAG 0.587 40 33 --- --- --- --- PASS SCN11A 11280 broad.mit.edu 37 3 38921496 38921496 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:38921496C>T uc011ays.1 - 19 3537 c.3338G>A c.(3337-3339)GGA>GAA p.G1113E SCN11A_uc010hhn.1_Missense_Mutation_p.G191E NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 1113 Helical; Name=S2 of repeat III; (By similarity).|III. response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CTTTCCAAATCCGAAGGCTAC 0.398 8 18 --- --- --- --- PASS SCN11A 11280 broad.mit.edu 37 3 38991823 38991823 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:38991823G>A uc011ays.1 - 1 230 c.31C>T c.(31-33)CCA>TCA p.P11S NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 11 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CGCTCATCTGGAAAGATTACT 0.498 50 24 --- --- --- --- PASS XIRP1 165904 broad.mit.edu 37 3 39228798 39228798 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:39228798G>T uc003cjk.1 - 2 2360 c.2139C>A c.(2137-2139)CCC>CCA p.P713P XIRP1_uc003cji.2_Silent_p.P713P|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 713 actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CGATTACCCGGGGCTCCTGTT 0.572 4 22 --- --- --- --- PASS ENTPD3 956 broad.mit.edu 37 3 40433626 40433626 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:40433626C>T uc003ckd.3 + 3 245 c.153C>T c.(151-153)CTC>CTT p.L51L ENTPD3_uc010hhy.2_Silent_p.L51L|uc003cke.3_RNA NM_001248 NP_001239 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 51 Extracellular (Potential). integral to membrane ATP binding|hydrolase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) AAGAGGTCCTCCCTCCAGGAC 0.448 26 31 --- --- --- --- PASS ENTPD3 956 broad.mit.edu 37 3 40433627 40433627 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:40433627C>T uc003ckd.3 + 3 246 c.154C>T c.(154-156)CCT>TCT p.P52S ENTPD3_uc010hhy.2_Missense_Mutation_p.P52S|uc003cke.3_RNA NM_001248 NP_001239 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 52 Extracellular (Potential). integral to membrane ATP binding|hydrolase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) AGAGGTCCTCCCTCCAGGACT 0.453 25 29 --- --- --- --- PASS CTNNB1 1499 broad.mit.edu 37 3 41275037 41275037 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:41275037C>T uc010hia.1 + 10 1359 c.1203C>T c.(1201-1203)CTC>CTT p.L401L CTNNB1_uc003ckp.2_Silent_p.L401L|CTNNB1_uc003ckq.2_Silent_p.L401L|CTNNB1_uc003ckr.2_Silent_p.L401L|CTNNB1_uc011azf.1_Silent_p.L394L|CTNNB1_uc011azg.1_Silent_p.L329L|CTNNB1_uc003cks.2_Silent_p.L4L|CTNNB1_uc003ckt.1_5'Flank NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 401 ARM 7. adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding CTNNB1/PLAG1(60) liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1) 3166 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) TGGAAGGTCTCCTTGGGACTC 0.408 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of 31 29 --- --- --- --- PASS CTNNB1 1499 broad.mit.edu 37 3 41275038 41275038 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:41275038C>T uc010hia.1 + 10 1360 c.1204C>T c.(1204-1206)CTT>TTT p.L402F CTNNB1_uc003ckp.2_Missense_Mutation_p.L402F|CTNNB1_uc003ckq.2_Missense_Mutation_p.L402F|CTNNB1_uc003ckr.2_Missense_Mutation_p.L402F|CTNNB1_uc011azf.1_Missense_Mutation_p.L395F|CTNNB1_uc011azg.1_Missense_Mutation_p.L330F|CTNNB1_uc003cks.2_Missense_Mutation_p.L5F|CTNNB1_uc003ckt.1_5'Flank NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 402 ARM 7. adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding CTNNB1/PLAG1(60) liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1) 3166 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) GGAAGGTCTCCTTGGGACTCT 0.408 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of 32 28 --- --- --- --- PASS HHATL 57467 broad.mit.edu 37 3 42738546 42738546 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:42738546C>T uc003clw.2 - 9 1104 c.957G>A c.(955-957)CTG>CTA p.L319L HHATL_uc003clx.2_Silent_p.L319L NM_020707 NP_065758 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 319 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm ovary(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.215) GGGGTGGGTCCAGGTGGTCGA 0.622 12 8 --- --- --- --- PASS ZNF197 10168 broad.mit.edu 37 3 44670823 44670823 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:44670823C>T uc003cnm.2 + 2 383 c.177C>T c.(175-177)GCC>GCT p.A59A ZNF197_uc003cnn.2_Silent_p.A59A|ZNF197_uc003cno.2_RNA|ZNF197_uc003cnp.2_Silent_p.A59A NM_006991 NP_008922 O14709 ZN197_HUMAN zinc finger protein 197 isoform 1 59 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) CCCAGGAAGCCCTGAGCCGGC 0.572 36 23 --- --- --- --- PASS LRRC2 79442 broad.mit.edu 37 3 46568959 46568959 + Missense_Mutation SNP C G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:46568959C>G uc010hji.2 - 7 1250 c.886G>C c.(886-888)GTG>CTG p.V296L LRRC2_uc003cpu.3_Missense_Mutation_p.V296L NM_024512 NP_078788 Q9BYS8 LRRC2_HUMAN leucine rich repeat containing 2 296 LRR 8. ovary(1) 1 Ovarian(412;0.0563) OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254) GGGAGCTCCACCAAATGGTCC 0.478 18 16 --- --- --- --- PASS LRRC2 79442 broad.mit.edu 37 3 46568960 46568960 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:46568960C>T uc010hji.2 - 7 1249 c.885G>A c.(883-885)TTG>TTA p.L295L LRRC2_uc003cpu.3_Silent_p.L295L NM_024512 NP_078788 Q9BYS8 LRRC2_HUMAN leucine rich repeat containing 2 295 LRR 8. ovary(1) 1 Ovarian(412;0.0563) OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254) GGAGCTCCACCAAATGGTCCC 0.478 19 16 --- --- --- --- PASS NBEAL2 23218 broad.mit.edu 37 3 47044477 47044477 + Silent SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:47044477C>A uc003cqp.2 + 34 5669 c.5490C>A c.(5488-5490)TCC>TCA p.S1830S NBEAL2_uc010hjm.1_Silent_p.S1207S|NBEAL2_uc010hjn.1_Silent_p.S226S|NBEAL2_uc010hjo.1_5'Flank NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 1830 binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) GGAAACTGTCCAGCGCCGAGA 0.612 7 5 --- --- --- --- PASS SCAP 22937 broad.mit.edu 37 3 47465450 47465450 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:47465450G>A uc003crh.1 - 9 1378 c.1123C>T c.(1123-1125)CTG>TTG p.L375L SCAP_uc011baz.1_Silent_p.L120L|SCAP_uc003crg.2_5'UTR NM_012235 NP_036367 Q12770 SCAP_HUMAN SREBF chaperone protein 375 SSD.|Cytoplasmic (By similarity). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) TTCACCTCCAGGTCTACCGGG 0.567 20 13 --- --- --- --- PASS CELSR3 1951 broad.mit.edu 37 3 48666117 48666117 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:48666117G>A uc003cuf.1 - 51 11845 c.11845C>T c.(11845-11847)CGC>TGC p.R3949C SLC26A6_uc003cug.2_Missense_Mutation_p.R523C|SLC26A6_uc003cuh.2_Missense_Mutation_p.R544C|SLC26A6_uc010hke.2_Missense_Mutation_p.R395C|SLC26A6_uc003cuk.2_Missense_Mutation_p.R437C|SLC26A6_uc003cui.2_Missense_Mutation_p.R544C|SLC26A6_uc003cuj.2_Missense_Mutation_p.R544C|SLC26A6_uc011bbp.1_Missense_Mutation_p.R508C NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 Error:Variant_position_missing_in_Q9NYQ7_after_alignment homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GCCGAGGAGCGGAAGACCTTC 0.602 18 14 --- --- --- --- PASS CELSR3 1951 broad.mit.edu 37 3 48692593 48692593 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:48692593C>T uc003cul.2 - 6 5153 c.4872G>A c.(4870-4872)AAG>AAA p.K1624K CELSR3_uc003cuf.1_Silent_p.K1694K NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 1624 Extracellular (Potential).|Laminin G-like 1. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCACCTTGTCCTTGGAGGGGC 0.607 9 9 --- --- --- --- PASS QRICH1 54870 broad.mit.edu 37 3 49095152 49095152 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:49095152G>A uc010hkq.2 - 4 777 c.481C>T c.(481-483)CCC>TCC p.P161S QRICH1_uc003cvu.2_Missense_Mutation_p.P161S|QRICH1_uc003cvv.2_Missense_Mutation_p.P161S NM_198880 NP_942581 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 161 Gln-rich. ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) AGCTGCGAGGGACTGGGACTC 0.617 40 21 --- --- --- --- PASS DAG1 1605 broad.mit.edu 37 3 49570418 49570418 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:49570418C>T uc003cxc.3 + 3 2892 c.2474C>T c.(2473-2475)CCC>CTC p.P825L NM_004393 NP_004384 Q14118 DAG1_HUMAN dystroglycan 1 preproprotein 825 Pro-rich.|Required for interaction with CAV3.|Cytoplasmic (Potential). cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GAGAAGGCTCCCCTACCCCCT 0.602 20 12 --- --- --- --- PASS BSN 8927 broad.mit.edu 37 3 49690811 49690811 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:49690811C>T uc003cxe.3 + 5 3936 c.3822C>T c.(3820-3822)TCC>TCT p.S1274S NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 1274 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GGCAGGCCTCCTCACGAGACC 0.557 12 13 --- --- --- --- PASS BSN 8927 broad.mit.edu 37 3 49698116 49698116 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:49698116G>A uc003cxe.3 + 6 8952 c.8838G>A c.(8836-8838)CGG>CGA p.R2946R NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 2946 Potential. synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) AGCTGGACCGGGACCTGCGGC 0.642 6 6 --- --- --- --- PASS RNF123 63891 broad.mit.edu 37 3 49753120 49753120 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:49753120C>T uc003cxh.2 + 32 3209 c.3123C>T c.(3121-3123)TTC>TTT p.F1041F RNF123_uc003cxi.2_RNA NM_022064 NP_071347 Q5XPI4 RN123_HUMAN ring finger protein 123 1041 cytoplasm ligase activity|protein binding|zinc ion binding kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) ACTGGGCCTTCTCTGAATTCA 0.607 19 14 --- --- --- --- PASS UBA7 7318 broad.mit.edu 37 3 49848862 49848862 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:49848862C>T uc003cxr.2 - 9 1137 c.966G>A c.(964-966)CTG>CTA p.L322L NM_003335 NP_003326 P41226 UBA7_HUMAN ubiquitin-like modifier activating enzyme 7 322 2 approximate repeats. ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity ovary(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GGTCCCGGGCCAGGCCCACCA 0.522 5 1 --- --- --- --- PASS RBM5 10181 broad.mit.edu 37 3 50153357 50153357 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:50153357C>T uc003cyg.2 + 22 2186 c.2038C>T c.(2038-2040)CGA>TGA p.R680* RBM5_uc011bdj.1_Nonsense_Mutation_p.R624*|RBM5_uc011bdk.1_Nonsense_Mutation_p.R508*|RBM5_uc003cyh.2_Nonsense_Mutation_p.R137* NM_005778 NP_005769 P52756 RBM5_HUMAN RNA binding motif protein 5 680 Required for interaction with U2AF2. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGACATCTATCGACGATCCAG 0.433 24 6 --- --- --- --- PASS DOCK3 1795 broad.mit.edu 37 3 51196713 51196713 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:51196713C>T uc011bds.1 + 11 890 c.867C>T c.(865-867)ATC>ATT p.I289I NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 289 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) ATTTGTATATCGTTGCCCATG 0.358 30 33 --- --- --- --- PASS VPRBP 9730 broad.mit.edu 37 3 51467502 51467502 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:51467502G>A uc003dbe.1 - 10 1618 c.1450C>T c.(1450-1452)CGT>TGT p.R484C NM_014703 NP_055518 Q9Y4B6 VPRBP_HUMAN HIV-1 Vpr binding protein 484 interspecies interaction between organisms cytoplasm|nucleus protein binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) ACCAGACGACGAAGACCATCA 0.488 6 91 --- --- --- --- PASS RAD54L2 23132 broad.mit.edu 37 3 51673510 51673510 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:51673510G>A uc011bdt.1 + 12 2061 c.1936G>A c.(1936-1938)GAA>AAA p.E646K RAD54L2_uc003dbh.2_Missense_Mutation_p.E237K|RAD54L2_uc011bdu.1_Missense_Mutation_p.E340K|RAD54L2_uc003dbj.2_5'UTR NM_015106 NP_055921 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 646 nucleus ATP binding|DNA binding|helicase activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) CCTAGACGTGGAAGAACTTGG 0.552 23 18 --- --- --- --- PASS DNAH1 25981 broad.mit.edu 37 3 52402765 52402765 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:52402765G>A uc011bef.1 + 37 6035 c.5774G>A c.(5773-5775)GGG>GAG p.G1925E NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1925 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AGGACAGACGGGATATTCTCC 0.632 40 39 --- --- --- --- PASS STAB1 23166 broad.mit.edu 37 3 52548474 52548474 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:52548474C>T uc003dej.2 + 34 3714 c.3640C>T c.(3640-3642)CCT>TCT p.P1214S NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 1214 FAS1 4.|Extracellular (Potential). 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) CCTCCTGGGCCCTGCCCACTG 0.647 20 13 --- --- --- --- PASS STAB1 23166 broad.mit.edu 37 3 52551008 52551008 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:52551008C>T uc003dej.2 + 42 4446 c.4372C>T c.(4372-4374)CCC>TCC p.P1458S STAB1_uc003dek.1_5'Flank NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 1458 Extracellular (Potential).|EGF-like 11. 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) AGAGGTGGACCCCTGCGCCCA 0.647 23 11 --- --- --- --- PASS STAB1 23166 broad.mit.edu 37 3 52556435 52556435 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:52556435G>A uc003dej.2 + 60 6629 c.6555G>A c.(6553-6555)TTG>TTA p.L2185L STAB1_uc003dek.1_Silent_p.L200L|STAB1_uc003del.2_Silent_p.L72L NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 2185 Extracellular (Potential). 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) ACCGCTGCTTGGGCCAGCCAC 0.622 21 13 --- --- --- --- PASS NT5DC2 64943 broad.mit.edu 37 3 52563208 52563208 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:52563208C>T uc003deo.2 - 2 688 c.264G>A c.(262-264)GAG>GAA p.E88E NT5DC2_uc003dem.2_5'Flank|NT5DC2_uc003den.2_Silent_p.E125E|NT5DC2_uc010hmi.2_Silent_p.E125E|NT5DC2_uc010hmj.2_5'UTR NM_022908 NP_075059 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 isoform 2 88 hydrolase activity|metal ion binding 0 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) TACTGAAGATCTCGGGGTGCA 0.592 21 21 --- --- --- --- PASS ITIH1 3697 broad.mit.edu 37 3 52820977 52820977 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:52820977G>A uc003dfs.2 + 14 1774 c.1750G>A c.(1750-1752)GAG>AAG p.E584K ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Missense_Mutation_p.E185K|ITIH1_uc010hmo.1_Missense_Mutation_p.E138K|ITIH1_uc003dfu.2_5'Flank NM_002215 NP_002206 P19827 ITIH1_HUMAN inter-alpha (globulin) inhibitor H1 584 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) GGTGGACAGGGAGGAGAGGGC 0.502 17 15 --- --- --- --- PASS ITIH4 3700 broad.mit.edu 37 3 52852089 52852089 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:52852089G>A uc003dfz.2 - 20 2311 c.2275C>T c.(2275-2277)CTG>TTG p.L759L ITIH4_uc011bel.1_Silent_p.L473L|ITIH4_uc003dfy.2_Intron|ITIH4_uc011bem.1_Silent_p.L764L|ITIH4_uc011ben.1_Silent_p.L729L NM_002218 NP_002209 Q14624 ITIH4_HUMAN inter-alpha (globulin) inhibitor H4 759 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) TCTGAGAGCAGGTTCACTGGC 0.647 14 12 --- --- --- --- PASS CACNA1D 776 broad.mit.edu 37 3 53531355 53531355 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:53531355C>A uc003dgv.3 + 2 407 c.244C>A c.(244-246)CAA>AAA p.Q82K CACNA1D_uc003dgu.3_Missense_Mutation_p.Q82K|CACNA1D_uc003dgy.3_Missense_Mutation_p.Q82K NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 82 Cytoplasmic (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) ATCTCTCTCCCAAAGAAAACG 0.522 5 72 --- --- --- --- PASS CHDH 55349 broad.mit.edu 37 3 53852089 53852089 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:53852089G>A uc003dgz.2 - 9 1940 c.1500C>T c.(1498-1500)GCC>GCT p.A500A NM_018397 NP_060867 Q8NE62 CHDH_HUMAN choline dehydrogenase precursor 500 alcohol metabolic process choline dehydrogenase activity|flavin adenine dinucleotide binding ovary(1)|central_nervous_system(1) 2 Hepatocellular(537;0.152) BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) Choline(DB00122) CCCGCACAAAGGCATCTATCT 0.577 20 20 --- --- --- --- PASS CADPS 8618 broad.mit.edu 37 3 62518605 62518605 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:62518605G>A uc003dll.2 - 13 2592 c.2232C>T c.(2230-2232)ATC>ATT p.I744I CADPS_uc003dlk.1_Silent_p.I248I|CADPS_uc003dlm.2_Silent_p.I744I|CADPS_uc003dln.2_Silent_p.I727I NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 744 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) GGGTGGGGTCGATCATGGCGC 0.517 36 21 --- --- --- --- PASS SYNPR 132204 broad.mit.edu 37 3 63594900 63594900 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:63594900G>A uc003dlq.2 + 4 817 c.448G>A c.(448-450)GAA>AAA p.E150K SYNPR_uc003dlp.2_Missense_Mutation_p.E170K|SYNPR_uc011bfk.1_RNA|SYNPR_uc011bfl.1_RNA|SYNPR_uc010hnt.2_Missense_Mutation_p.E159K|SYNPR_uc011bfm.1_RNA NM_144642 NP_653243 Q8TBG9 SYNPR_HUMAN synaptoporin isoform 2 150 MARVEL.|Vesicular (Potential). cell junction|integral to membrane|synaptic vesicle membrane|synaptosome transporter activity 0 BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904) GGATCCCAAGGAAGTATTGCT 0.448 16 12 --- --- --- --- PASS ADAMTS9 56999 broad.mit.edu 37 3 64589744 64589744 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:64589744C>T uc003dmg.2 - 25 3633 c.3601G>A c.(3601-3603)GGT>AGT p.G1201S ADAMTS9_uc011bfo.1_Missense_Mutation_p.G1173S|ADAMTS9_uc003dmh.1_Missense_Mutation_p.G1030S|ADAMTS9_uc011bfp.1_Missense_Mutation_p.G112S NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 1201 TSP type-1 7. 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) ATCCGGGTACCTTTCCCACAA 0.512 19 14 --- --- --- --- PASS ADAMTS9 56999 broad.mit.edu 37 3 64599030 64599030 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:64599030G>A uc003dmg.2 - 22 3377 c.3345C>T c.(3343-3345)CCC>CCT p.P1115P ADAMTS9_uc011bfo.1_Silent_p.P1087P|ADAMTS9_uc003dmh.1_Silent_p.P944P|ADAMTS9_uc011bfp.1_Silent_p.P26P NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 1115 TSP type-1 6. 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) CCTGTCCCCAGGGACCCGCCT 0.463 22 15 --- --- --- --- PASS ADAMTS9 56999 broad.mit.edu 37 3 64599031 64599031 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:64599031G>A uc003dmg.2 - 22 3376 c.3344C>T c.(3343-3345)CCC>CTC p.P1115L ADAMTS9_uc011bfo.1_Missense_Mutation_p.P1087L|ADAMTS9_uc003dmh.1_Missense_Mutation_p.P944L|ADAMTS9_uc011bfp.1_Missense_Mutation_p.P26L NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 1115 TSP type-1 6. 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) CTGTCCCCAGGGACCCGCCTG 0.468 23 15 --- --- --- --- PASS ADAMTS9 56999 broad.mit.edu 37 3 64627562 64627562 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:64627562C>T uc003dmg.2 - 12 1850 c.1818G>A c.(1816-1818)GGG>GGA p.G606G ADAMTS9_uc011bfo.1_Silent_p.G578G|ADAMTS9_uc003dmh.1_Silent_p.G435G|ADAMTS9_uc003dmk.1_Silent_p.G606G NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 606 TSP type-1 1. 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) TTTTGATGCCCCCTCCACATG 0.473 30 17 --- --- --- --- PASS UBA3 9039 broad.mit.edu 37 3 69112186 69112186 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:69112186G>A uc003dno.2 - 9 660 c.640C>T c.(640-642)CTG>TTG p.L214L UBA3_uc003dnq.2_Silent_p.L200L|UBA3_uc011bfy.1_Silent_p.L37L|UBA3_uc011bfz.1_Silent_p.L37L NM_003968 NP_003959 Q8TBC4 UBA3_HUMAN ubiquitin-activating enzyme 3 isoform 1 214 Interaction with UBE2M N-terminus. L->A: Reduces affinity for UBE2M; when associated with A-217. protein neddylation|proteolysis nucleus acid-amino acid ligase activity|ATP binding|protein heterodimerization activity ovary(1) 1 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241) ATTCCAGGCAGAATCACCCGG 0.423 40 32 --- --- --- --- PASS GXYLT2 727936 broad.mit.edu 37 3 73016739 73016739 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:73016739G>A uc003dpg.2 + 6 1018 c.1018G>A c.(1018-1020)GAT>AAT p.D340N NM_001080393 NP_001073862 A0PJZ3 GXLT2_HUMAN glycosyltransferase 8 domain containing 4 340 Lumenal (Potential). O-glycan processing integral to membrane UDP-xylosyltransferase activity 0 CTACCGTCCCGATCACTGCAT 0.498 22 12 --- --- --- --- PASS CNTN3 5067 broad.mit.edu 37 3 74349027 74349027 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:74349027T>C uc003dpm.1 - 16 2238 c.2158A>G c.(2158-2160)ACC>GCC p.T720A NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 720 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) ACATCCCAGGTTATCACAAGT 0.423 21 15 --- --- --- --- PASS EPHA3 2042 broad.mit.edu 37 3 89391077 89391077 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:89391077C>T uc003dqy.2 + 5 1368 c.1143C>T c.(1141-1143)CGC>CGT p.R381R EPHA3_uc003dqx.1_Silent_p.R381R|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 381 Extracellular (Potential).|Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CAAATGTCCGCTTCCTCCCTC 0.483 TSP Lung(6;0.00050) 45 31 --- --- --- --- PASS PROS1 5627 broad.mit.edu 37 3 93615439 93615439 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:93615439G>A uc003drb.3 - 9 1287 c.946C>T c.(946-948)CGT>TGT p.R316C PROS1_uc010hoo.2_Missense_Mutation_p.R185C|PROS1_uc003dqz.3_Missense_Mutation_p.R185C NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 316 Laminin G-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TCTGGCAAACGAAATTTTAAA 0.408 22 73 --- --- --- --- PASS GABRR3 200959 broad.mit.edu 37 3 97705818 97705818 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:97705818C>T uc011bgr.1 - 9 1113 c.1113G>A c.(1111-1113)AGG>AGA p.R371R NM_001105580 NP_001099050 A8MPY1 GBRR3_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 3 371 Cytoplasmic (Potential).|Interaction with SQSTM1 (By similarity). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity 0 TATTGTACATCCTAGAAATCT 0.323 21 32 --- --- --- --- PASS GABRR3 200959 broad.mit.edu 37 3 97711840 97711840 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:97711840G>A uc011bgr.1 - 8 960 c.960C>T c.(958-960)TCC>TCT p.S320S NM_001105580 NP_001099050 A8MPY1 GBRR3_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 3 320 Helical; (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity 0 CCTGGGGCATGGAGGCGCTCA 0.507 52 64 --- --- --- --- PASS OR5AC2 81050 broad.mit.edu 37 3 97806407 97806407 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:97806407C>T uc011bgs.1 + 1 391 c.391C>T c.(391-393)CCC>TCC p.P131S NM_054106 NP_473447 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, 131 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CATATGTAATCCCTTGCTTTA 0.428 41 118 --- --- --- --- PASS OR5H14 403273 broad.mit.edu 37 3 97868733 97868733 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:97868733C>T uc003dsg.1 + 1 504 c.504C>T c.(502-504)TTC>TTT p.F168F NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, 168 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GACTAACCTTCTGTAACTCCA 0.323 31 71 --- --- --- --- PASS OR5H15 403274 broad.mit.edu 37 3 97888478 97888478 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:97888478C>T uc011bgu.1 + 1 935 c.935C>T c.(934-936)TCA>TTA p.S312L NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, 312 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GTTAAGGTTTCATACTAATAT 0.284 16 13 --- --- --- --- PASS OR5H6 79295 broad.mit.edu 37 3 97983680 97983680 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:97983680C>T uc003dsi.1 + 1 552 c.552C>T c.(550-552)TTC>TTT p.F184F NM_001005479 NP_001005479 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, 184 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 GATTAACCTTCTGTAATTCCA 0.313 23 43 --- --- --- --- PASS OR5H6 79295 broad.mit.edu 37 3 97984103 97984103 + Silent SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:97984103T>A uc003dsi.1 + 1 975 c.975T>A c.(973-975)GTT>GTA p.V325V NM_001005479 NP_001005479 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, 325 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 AAAGCAATGTTTAGATCTCAT 0.338 22 48 --- --- --- --- PASS OR5K1 26339 broad.mit.edu 37 3 98189177 98189177 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:98189177G>A uc003dsm.2 + 1 757 c.757G>A c.(757-759)GGA>AGA p.G253R NM_001004736 NP_001004736 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, 253 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1) 1 ATTATTCTATGGATCTCTTTT 0.338 19 62 --- --- --- --- PASS GPR15 2838 broad.mit.edu 37 3 98251939 98251939 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:98251939G>A uc011bgy.1 + 1 1062 c.1062G>A c.(1060-1062)AGG>AGA p.R354R NM_005290 NP_005281 P49685 GPR15_HUMAN G protein-coupled receptor 15 354 Cytoplasmic (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) CCAGGAGGAGGAAGAGGTCTG 0.428 14 44 --- --- --- --- PASS FAM55C 91775 broad.mit.edu 37 3 101520114 101520114 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:101520114C>T uc003dvn.2 + 5 766 c.129C>T c.(127-129)ATC>ATT p.I43I FAM55C_uc010hpn.2_Silent_p.I43I NM_145037 NP_659474 Q969Y0 FA55C_HUMAN hypothetical protein LOC91775 precursor 43 extracellular region ovary(1)|pancreas(1)|skin(1) 3 CCACTTTCATCGACAGCAGTG 0.458 31 73 --- --- --- --- PASS BBX 56987 broad.mit.edu 37 3 107524288 107524288 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:107524288C>T uc010hpr.2 + 18 3137 c.2810C>T c.(2809-2811)TCC>TTC p.S937F BBX_uc003dwk.3_Missense_Mutation_p.S907F|BBX_uc003dwl.3_Missense_Mutation_p.P601S|BBX_uc003dwm.3_Missense_Mutation_p.S907F|BBX_uc003dwo.3_Missense_Mutation_p.P254S NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 937 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) GTACTTATTTCCTGCGCTGAC 0.468 40 92 --- --- --- --- PASS MYH15 22989 broad.mit.edu 37 3 108147687 108147687 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:108147687C>T uc003dxa.1 - 28 3471 c.3414G>A c.(3412-3414)AGG>AGA p.R1138R NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 1138 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 CTCGAGTGGTCCTTTCAGCTT 0.383 29 61 --- --- --- --- PASS MORC1 27136 broad.mit.edu 37 3 108698425 108698425 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:108698425G>A uc003dxl.2 - 24 2501 c.2414C>T c.(2413-2415)TCG>TTG p.S805L MORC1_uc011bhn.1_Missense_Mutation_p.S784L NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 805 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 AGACGCTGGCGAAGAAGCAAC 0.418 28 48 --- --- --- --- PASS DPPA2 151871 broad.mit.edu 37 3 109031461 109031461 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:109031461C>T uc003dxo.2 - 3 359 c.112G>A c.(112-114)GAA>AAA p.E38K NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 38 nucleus nucleic acid binding ovary(2)|upper_aerodigestive_tract(1) 3 TCCATTTGTTCCATATTTGCG 0.418 18 43 --- --- --- --- PASS SLC9A10 285335 broad.mit.edu 37 3 111918267 111918267 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:111918267C>T uc003dyu.2 - 20 2646 c.2424G>A c.(2422-2424)AAG>AAA p.K808K SLC9A10_uc011bhu.1_Silent_p.K71K|SLC9A10_uc010hqc.2_Silent_p.K760K NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN sperm-specific sodium proton exchanger 808 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ovary(3)|breast(2) 5 TAATTTCTTCCTTTGTTTTCA 0.289 13 29 --- --- --- --- PASS CCDC80 151887 broad.mit.edu 37 3 112324331 112324331 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:112324331C>T uc003dzf.2 - 8 3004 c.2786G>A c.(2785-2787)GGA>GAA p.G929E CCDC80_uc011bhv.1_Missense_Mutation_p.G902E|CCDC80_uc003dzg.2_Missense_Mutation_p.G929E NM_199512 NP_955806 Q76M96 CCD80_HUMAN steroid-sensitive protein 1 precursor 929 ovary(2) 2 ATCCTGGTATCCTTGGTGGTA 0.473 23 42 --- --- --- --- PASS BOC 91653 broad.mit.edu 37 3 112997105 112997105 + Splice_Site SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:112997105G>T uc003dzx.2 + 10 2323 c.1702_splice c.e10+1 p.G568_splice BOC_uc003dzy.2_Splice_Site_p.G568_splice|BOC_uc003dzz.2_Splice_Site_p.G569_splice|BOC_uc003eab.2_Splice_Site_p.G269_splice|BOC_uc003eac.2_5'Flank NM_033254 NP_150279 Q9BWV1 BOC_HUMAN brother of CDO precursor cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1) 6 Epithelial(53;0.227) TTCCGAACTGGTGAGAGTCAA 0.562 28 37 --- --- --- --- PASS DRD3 1814 broad.mit.edu 37 3 113890720 113890720 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:113890720G>A uc003ebd.2 - 3 543 c.120C>T c.(118-120)ATC>ATT p.I40I DRD3_uc010hqn.1_Silent_p.I40I|DRD3_uc003ebb.1_Silent_p.I40I|DRD3_uc003ebc.1_Silent_p.I40I NM_000796 NP_000787 P35462 DRD3_HUMAN dopamine receptor D3 isoform a 40 Helical; Name=1. activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) CGATGGCCAGGATGAGCGCGC 0.612 10 38 --- --- --- --- PASS ZNF80 7634 broad.mit.edu 37 3 113955416 113955416 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:113955416G>A uc010hqo.2 - 1 1010 c.506C>T c.(505-507)ACC>ATC p.T169I ZNF80_uc003ebf.2_RNA NM_007136 NP_009067 P51504 ZNF80_HUMAN zinc finger protein 80 169 C2H2-type 5. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(201;0.0233)|all_neural(597;0.0837) GTAGTAAAAGGTTTTTCCACA 0.488 36 35 --- --- --- --- PASS TIGIT 201633 broad.mit.edu 37 3 114014420 114014420 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:114014420G>T uc003ebg.1 + 2 124 c.90G>T c.(88-90)ACG>ACT p.T30T NM_173799 NP_776160 Q495A1 TIGIT_HUMAN T cell immunoreceptor with Ig and ITIM domains 30 Extracellular (Potential).|Ig-like V-type. negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production cell surface|integral to membrane|plasma membrane protein binding central_nervous_system(1) 1 TAGAAACAACGGGGAACATTT 0.507 6 257 --- --- --- --- PASS ZBTB20 26137 broad.mit.edu 37 3 114069570 114069570 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:114069570G>A uc003ebi.2 - 4 1535 c.1355C>T c.(1354-1356)TCC>TTC p.S452F ZBTB20_uc003ebj.2_Missense_Mutation_p.S379F|ZBTB20_uc010hqp.2_Missense_Mutation_p.S379F|ZBTB20_uc003ebk.2_Missense_Mutation_p.S379F|ZBTB20_uc003ebl.2_Missense_Mutation_p.S379F|ZBTB20_uc003ebm.2_Missense_Mutation_p.S379F|ZBTB20_uc003ebn.2_Missense_Mutation_p.S379F|uc003ebo.1_5'Flank NM_015642 NP_056457 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 isoform 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GCTCTTGTCGGAGCTGTTGCT 0.547 36 38 --- --- --- --- PASS LSAMP 4045 broad.mit.edu 37 3 115560810 115560810 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:115560810C>T uc003ebt.2 - 6 1301 c.801G>A c.(799-801)AAG>AAA p.K267K LSAMP_uc011bis.1_Silent_p.K267K NM_002338 NP_002329 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 267 Ig-like C2-type 3. cell adhesion|nervous system development anchored to membrane|plasma membrane 0 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) CCTCCGTGCTCTTAATCTCAA 0.483 36 41 --- --- --- --- PASS IGSF11 152404 broad.mit.edu 37 3 118621729 118621729 + Missense_Mutation SNP T G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:118621729T>G uc003ebw.2 - 7 1181 c.934A>C c.(934-936)ACC>CCC p.T312P IGSF11_uc011biv.1_Missense_Mutation_p.T284P|IGSF11_uc003ebx.2_Missense_Mutation_p.T288P|IGSF11_uc003eby.2_Missense_Mutation_p.T311P|IGSF11_uc003ebz.2_Missense_Mutation_p.T287P|IGSF11_uc010hqs.2_Missense_Mutation_p.T311P NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 isoform b 312 Cytoplasmic (Potential). cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity 0 TTGGAAGAGGTTAGTGTGTTG 0.433 46 69 --- --- --- --- PASS IGSF11 152404 broad.mit.edu 37 3 118648981 118648981 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:118648981G>A uc003ebw.2 - 2 441 c.194C>T c.(193-195)TCC>TTC p.S65F IGSF11_uc011biv.1_Missense_Mutation_p.S65F|IGSF11_uc003ebx.2_Missense_Mutation_p.S65F|IGSF11_uc003eby.2_Missense_Mutation_p.S64F|IGSF11_uc003ebz.2_Missense_Mutation_p.S64F|IGSF11_uc010hqs.2_Missense_Mutation_p.S64F NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 isoform b 65 Ig-like V-type.|Extracellular (Potential). cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity 0 GTTGGCATTGGAGAGAGGAGT 0.507 41 50 --- --- --- --- PASS B4GALT4 8702 broad.mit.edu 37 3 118943002 118943002 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:118943002G>A uc003ecg.2 - 5 1218 c.577C>T c.(577-579)CAC>TAC p.H193Y B4GALT4_uc003ece.1_Missense_Mutation_p.H193Y|B4GALT4_uc003ecf.2_RNA|B4GALT4_uc003ech.2_Missense_Mutation_p.H193Y|B4GALT4_uc003eci.2_Missense_Mutation_p.H193Y|B4GALT4_uc011biy.1_RNA NM_212543 NP_997708 O60513 B4GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 193 Lumenal (Potential). membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding|N-acetyllactosamine synthase activity 0 GBM - Glioblastoma multiforme(114;0.222) N-Acetyl-D-glucosamine(DB00141) TCCACATCGTGGAATATAAAG 0.453 38 40 --- --- --- --- PASS PLA1A 51365 broad.mit.edu 37 3 119336889 119336889 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:119336889C>T uc003ecu.2 + 7 817 c.778C>T c.(778-780)CAC>TAC p.H260Y PLA1A_uc003ecv.2_Missense_Mutation_p.H244Y|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Missense_Mutation_p.H87Y NM_015900 NP_056984 Q53H76 PLA1A_HUMAN phospholipase A1 member A precursor 260 Charge relay system (By similarity). lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 GATCTGTGATCACATGAGGGC 0.463 63 127 --- --- --- --- PASS C3orf15 89876 broad.mit.edu 37 3 119458116 119458116 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:119458116G>A uc003ede.3 + 12 1553 c.1476G>A c.(1474-1476)ATG>ATA p.M492I C3orf15_uc010hqy.1_Missense_Mutation_p.M492I|C3orf15_uc010hqz.2_Missense_Mutation_p.M430I|C3orf15_uc011bjd.1_Missense_Mutation_p.M366I|C3orf15_uc011bje.1_Missense_Mutation_p.M472I|C3orf15_uc010hra.1_Missense_Mutation_p.M253I NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN AAT1-alpha Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment mitochondrion protein binding ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(114;0.186) AAGAAGAAATGGAAATGGCTG 0.428 59 99 --- --- --- --- PASS FSTL1 11167 broad.mit.edu 37 3 120134863 120134863 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:120134863C>T uc003eds.2 - 3 250 c.75G>A c.(73-75)AGG>AGA p.R25R FSTL1_uc011bjh.1_Intron|FSTL1_uc010hrb.2_Silent_p.R25R NM_007085 NP_009016 Q12841 FSTL1_HUMAN follistatin-like 1 precursor 25 BMP signaling pathway extracellular space calcium ion binding|heparin binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(114;0.189) TGGATTTGCTCCTTAGCTCTT 0.463 23 58 --- --- --- --- PASS FSTL1 11167 broad.mit.edu 37 3 120134864 120134864 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:120134864C>T uc003eds.2 - 3 249 c.74G>A c.(73-75)AGG>AAG p.R25K FSTL1_uc011bjh.1_Intron|FSTL1_uc010hrb.2_Missense_Mutation_p.R25K NM_007085 NP_009016 Q12841 FSTL1_HUMAN follistatin-like 1 precursor 25 BMP signaling pathway extracellular space calcium ion binding|heparin binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(114;0.189) GGATTTGCTCCTTAGCTCTTC 0.463 23 60 --- --- --- --- PASS GOLGB1 2804 broad.mit.edu 37 3 121396221 121396221 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:121396221G>A uc003eei.3 - 16 9061 c.8935C>T c.(8935-8937)CAG>TAG p.Q2979* GOLGB1_uc010hrc.2_Nonsense_Mutation_p.Q2984*|GOLGB1_uc003eej.3_Nonsense_Mutation_p.Q2945* NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 2979 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) CTGAGCTGCTGATCTTTATCT 0.418 20 47 --- --- --- --- PASS ILDR1 286676 broad.mit.edu 37 3 121724179 121724179 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:121724179C>T uc003ees.2 - 3 397 c.291G>A c.(289-291)CGG>CGA p.R97R ILDR1_uc003eeq.2_Silent_p.R109R|ILDR1_uc003eer.2_Silent_p.R97R|ILDR1_uc010hrg.2_Silent_p.R97R NM_175924 NP_787120 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 97 Extracellular (Potential).|Ig-like V-type. R -> Q (in DFNB42). cytosol|integral to membrane|plasma membrane receptor activity skin(1) 1 GBM - Glioblastoma multiforme(114;0.156) TGCGAACTTCCCGCTGGTTGT 0.602 12 19 --- --- --- --- PASS CASR 846 broad.mit.edu 37 3 121980931 121980931 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:121980931A>T uc003eev.3 + 4 1421 c.1049A>T c.(1048-1050)GAG>GTG p.E350V CASR_uc003eew.3_Missense_Mutation_p.E350V NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 350 Extracellular (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TTTGCCAAGGAGTTTTGGGAA 0.507 29 35 --- --- --- --- PASS MUC13 56667 broad.mit.edu 37 3 124632524 124632524 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:124632524G>A uc003ehq.1 - 7 990 c.966C>T c.(964-966)ACC>ACT p.T322T NM_033049 NP_149038 Q9H3R2 MUC13_HUMAN mucin 13, epithelial transmembrane 322 EGF-like 2.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane 0 CACACCGAAGGGTCACTGAGA 0.413 22 36 --- --- --- --- PASS ALDH1L1 10840 broad.mit.edu 37 3 125828880 125828880 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:125828880G>A uc003eim.1 - 20 2444 c.2254C>T c.(2254-2256)CAT>TAT p.H752Y ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.H651Y|ALDH1L1_uc003ein.1_Missense_Mutation_p.H287Y NM_012190 NP_036322 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 752 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) AGGTGGGCATGGTGATTCTGC 0.612 14 28 --- --- --- --- PASS ALDH1L1 10840 broad.mit.edu 37 3 125877439 125877439 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:125877439G>A uc003eim.1 - 3 361 c.171C>T c.(169-171)TCC>TCT p.S57S ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Silent_p.S57S|ALDH1L1_uc003eio.2_5'Flank|ALDH1L1_uc010hsf.1_Silent_p.S83S|ALDH1L1_uc003eip.1_5'UTR|ALDH1L1_uc011bkj.1_Intron NM_012190 NP_036322 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 57 GART. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) CACGCCACCGGGAGTACTTGA 0.572 25 35 --- --- --- --- PASS KLF15 28999 broad.mit.edu 37 3 126071359 126071359 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:126071359G>A uc011bkk.1 - 2 589 c.407C>T c.(406-408)CCC>CTC p.P136L NM_014079 NP_054798 Q9UIH9 KLF15_HUMAN Kruppel-like factor 15 136 nucleus DNA binding|zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(114;0.147) AGGCTGGAAGGGCCGTGGGAC 0.612 14 36 --- --- --- --- PASS UROC1 131669 broad.mit.edu 37 3 126202227 126202227 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:126202227C>T uc003eiz.1 - 19 1907 c.1875G>A c.(1873-1875)TGG>TGA p.W625* UROC1_uc010hsi.1_Nonsense_Mutation_p.W685* NM_144639 NP_653240 Q96N76 HUTU_HUMAN urocanase domain containing 1 isoform 1 625 histidine catabolic process cytosol urocanate hydratase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.17) TGGAGACATCCCAGCTGAGCA 0.622 10 15 --- --- --- --- PASS PLXNA1 5361 broad.mit.edu 37 3 126736309 126736309 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:126736309C>T uc003ejg.2 + 17 3253 c.3249C>T c.(3247-3249)GCC>GCT p.A1083A NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 1106 Extracellular (Potential).|IPT/TIG 3. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) TATGCCGCGCCCCGTCTGTGG 0.677 22 25 --- --- --- --- PASS PLXNA1 5361 broad.mit.edu 37 3 126746880 126746880 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:126746880C>T uc003ejg.2 + 23 4395 c.4391C>T c.(4390-4392)TCC>TTC p.S1464F PLXNA1_uc003ejh.2_Missense_Mutation_p.S132F NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 1487 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) GCACGCTACTCCCTGAGTGAG 0.632 27 44 --- --- --- --- PASS PLXNA1 5361 broad.mit.edu 37 3 126751655 126751655 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:126751655C>T uc003ejg.2 + 30 5506 c.5502C>T c.(5500-5502)TCC>TCT p.S1834S PLXNA1_uc003ejh.2_Silent_p.S502S NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 1857 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) AGATCTACTCCTACATCACCA 0.617 27 61 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 3 126916034 126916034 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:126916034C>T uc003eji.1 + 2 746 c.506C>T c.(505-507)GCC>GTC p.A169V RecName: Full=Putative uncharacterized protein C3orf56; CCCAGGGCTGCCGTAGAGGGG 0.642 13 26 --- --- --- --- PASS PODXL2 50512 broad.mit.edu 37 3 127379844 127379844 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:127379844C>T uc003ejq.2 + 3 997 c.973C>T c.(973-975)CCC>TCC p.P325S NM_015720 NP_056535 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 precursor 325 Extracellular (Potential). leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding ovary(1)|central_nervous_system(1) 2 AGATGAAGATCCCCTTGGCTC 0.587 20 46 --- --- --- --- PASS PODXL2 50512 broad.mit.edu 37 3 127387383 127387383 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:127387383C>T uc003ejq.2 + 5 1330 c.1306C>T c.(1306-1308)CTG>TTG p.L436L NM_015720 NP_056535 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 precursor 436 Extracellular (Potential). leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding ovary(1)|central_nervous_system(1) 2 GCACATCTCTCTGAGCAAGCC 0.682 3 7 --- --- --- --- PASS KBTBD12 166348 broad.mit.edu 37 3 127642514 127642514 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:127642514C>T uc010hsr.2 + 1 613 c.610C>T c.(610-612)CAT>TAT p.H204Y KBTBD12_uc003ejy.3_Intron|KBTBD12_uc010hsq.2_Intron|KBTBD12_uc003eka.3_Intron|KBTBD12_uc003ejz.2_Missense_Mutation_p.H204Y NM_207335 NP_997218 Q3ZCT8 KBTBC_HUMAN kelch domain containing 6 204 BACK. ovary(1) 1 ATGGGTAAATCATAACAAAGA 0.358 18 32 --- --- --- --- PASS SEC61A1 29927 broad.mit.edu 37 3 127783795 127783795 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:127783795G>T uc003ekb.2 + 8 876 c.692G>T c.(691-693)CGG>CTG p.R231L RUVBL1_uc003eke.2_3'UTR|RUVBL1_uc003ekf.2_3'UTR|SEC61A1_uc003ekc.2_Missense_Mutation_p.R178L|SEC61A1_uc003ekd.2_Missense_Mutation_p.R111L|SEC61A1_uc003ekg.2_Intron NM_013336 NP_037468 P61619 S61A1_HUMAN Sec61 alpha 1 subunit 231 Lumenal (Potential). protein targeting to ER integral to endoplasmic reticulum membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding ovary(1) 1 CGAGCCCTTCGGGAGGCGTTC 0.507 4 79 --- --- --- --- PASS C3orf37 56941 broad.mit.edu 37 3 129007816 129007816 + Silent SNP C A A rs139766481 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:129007816C>A uc003elt.2 + 3 391 c.303C>A c.(301-303)ACC>ACA p.T101T C3orf37_uc003elu.2_Silent_p.T101T|C3orf37_uc003elv.2_Silent_p.T101T|C3orf37_uc003elw.2_Silent_p.T101T NM_020187 NP_064572 Q96FZ2 CC037_HUMAN hypothetical protein LOC56941 101 ovary(1) 1 GTAGTGATACCGTAATGGAGA 0.473 4 66 --- --- --- --- PASS PLXND1 23129 broad.mit.edu 37 3 129278576 129278576 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:129278576G>A uc003emx.2 - 32 5284 c.5184C>T c.(5182-5184)ATC>ATT p.I1728I PLXND1_uc003emw.2_5'Flank|PLXND1_uc011blb.1_Silent_p.I396I NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 1728 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 TGTCTTCACGGATACTCAGAA 0.602 26 95 --- --- --- --- PASS TRH 7200 broad.mit.edu 37 3 129695765 129695765 + Silent SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:129695765A>G uc003enc.2 + 3 996 c.435A>G c.(433-435)GCA>GCG p.A145A NM_007117 NP_009048 P20396 TRH_HUMAN thyrotropin-releasing hormone 145 cell-cell signaling|hormone-mediated signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|thyrotropin-releasing hormone activity ovary(1) 1 CCTGGCTTGCATATGCTGTCC 0.517 7 27 --- --- --- --- PASS COL6A6 131873 broad.mit.edu 37 3 130380524 130380524 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:130380524C>T uc010htl.2 + 34 5905 c.5874C>T c.(5872-5874)CCC>CCT p.P1958P COL6A6_uc003eni.3_Silent_p.P57P NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1958 Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 CCAGACCACCCCCTGTGCAGT 0.468 20 36 --- --- --- --- PASS ATP2C1 27032 broad.mit.edu 37 3 130674959 130674959 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:130674959C>T uc003enl.2 + 11 990 c.768C>T c.(766-768)ACC>ACT p.T256T ATP2C1_uc011blg.1_Silent_p.T290T|ATP2C1_uc011blh.1_Silent_p.T251T|ATP2C1_uc011bli.1_Silent_p.T290T|ATP2C1_uc003enk.2_Silent_p.T240T|ATP2C1_uc003enm.2_Silent_p.T256T|ATP2C1_uc003enn.2_Silent_p.T240T|ATP2C1_uc003eno.2_Silent_p.T256T|ATP2C1_uc003enp.2_Silent_p.T256T|ATP2C1_uc003enq.2_Silent_p.T256T|ATP2C1_uc003enr.2_Silent_p.T256T|ATP2C1_uc003ens.2_Silent_p.T256T|ATP2C1_uc003ent.2_Silent_p.T256T NM_014382 NP_055197 P98194 AT2C1_HUMAN calcium-transporting ATPase 2C1 isoform 1a 256 Cytoplasmic (By similarity). actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity skin(1) 1 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) CACCAAAAACCCCTCTGCAGA 0.259 Hailey-Hailey_disease 16 58 --- --- --- --- PASS TMEM108 66000 broad.mit.edu 37 3 133098693 133098693 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:133098693C>T uc003eph.2 + 4 412 c.138C>T c.(136-138)CCC>CCT p.P46P TMEM108_uc003epi.2_Silent_p.P46P|TMEM108_uc003epj.1_Silent_p.P46P|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_5'UTR NM_023943 NP_076432 Q6UXF1 TM108_HUMAN transmembrane protein 108 precursor 46 Extracellular (Potential). integral to membrane ovary(2)|skin(2) 4 CAGGCACTCCCCCGGGAACCA 0.587 84 153 --- --- --- --- PASS TF 7018 broad.mit.edu 37 3 133496008 133496008 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:133496008G>A uc003epu.1 + 21 3716 c.1988G>A c.(1987-1989)AGA>AAA p.R663K TF_uc011blt.1_Missense_Mutation_p.R536K|TF_uc003epw.1_Missense_Mutation_p.R102K|TF_uc003epv.1_Missense_Mutation_p.R663K NM_001063 NP_001054 P02787 TRFE_HUMAN transferrin precursor 663 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding ovary(1)|skin(1) 2 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) CTTCATGACAGAAACACATAT 0.438 15 30 --- --- --- --- PASS C3orf36 80111 broad.mit.edu 37 3 133647202 133647202 + Missense_Mutation SNP T G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:133647202T>G uc003epz.1 - 1 1455 c.446A>C c.(445-447)AAA>ACA p.K149T NM_025041 NP_079317 Q3SXR2 CC036_HUMAN hypothetical protein LOC80111 149 ovary(1) 1 GACTCTCAGTTTCACCCTTGG 0.552 19 48 --- --- --- --- PASS SOX14 8403 broad.mit.edu 37 3 137484073 137484073 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:137484073C>T uc003erm.1 + 1 495 c.447C>T c.(445-447)ATC>ATT p.I149I NM_004189 NP_004180 O95416 SOX14_HUMAN SRY-box 14 149 negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent nucleus sequence-specific DNA binding 0 CGAGCGCCATCCAGAAGATGG 0.701 5 6 --- --- --- --- PASS ESYT3 83850 broad.mit.edu 37 3 138178092 138178092 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:138178092C>T uc003esk.2 + 5 871 c.645C>T c.(643-645)ATC>ATT p.I215I ESYT3_uc010hug.2_RNA NM_031913 NP_114119 A0FGR9 ESYT3_HUMAN family with sequence similarity 62 (C2 domain 215 integral to membrane|plasma membrane 0 TGAACGGGATCCAGGTGGGTG 0.622 32 58 --- --- --- --- PASS C3orf72 401089 broad.mit.edu 37 3 138669273 138669273 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:138669273C>T uc003esx.1 + 3 518 c.387C>T c.(385-387)TCC>TCT p.S129S C3orf72_uc011bmr.1_3'UTR NM_001040061 NP_001035150 Q6ZUU3 CC072_HUMAN chromosome 3 open reading frame 72 129 0 TTCCGCTGTCCCCTTTCCTAG 0.667 14 16 --- --- --- --- PASS PRR23B 389151 broad.mit.edu 37 3 138739123 138739123 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:138739123G>A uc003esy.1 - 1 646 c.381C>T c.(379-381)TTC>TTT p.F127F NM_001013650 NP_001013672 Q6ZRT6 PR23B_HUMAN proline rich 23B 127 breast(1) 1 CAGCGCCCAGGAAAACGTCCA 0.642 23 33 --- --- --- --- PASS RASA2 5922 broad.mit.edu 37 3 141331133 141331133 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:141331133C>T uc003etz.1 + 24 2528 c.2528C>T c.(2527-2529)CCA>CTA p.P843L RASA2_uc010huq.1_Missense_Mutation_p.P847L|RASA2_uc003eua.1_Missense_Mutation_p.P844L|uc003eub.2_5'Flank NM_006506 NP_006497 Q15283 RASA2_HUMAN RAS p21 protein activator 2 843 intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity ovary(2)|lung(2)|breast(1)|skin(1) 6 AGGGAAAATCCAATTGTTGGG 0.259 6 20 --- --- --- --- PASS ATR 545 broad.mit.edu 37 3 142272709 142272709 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:142272709G>A uc003eux.3 - 11 2612 c.2490C>T c.(2488-2490)CAC>CAT p.H830H NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 830 HEAT 1. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 ATTCCAATATGTGCTTGATAT 0.313 Other_conserved_DNA_damage_response_genes 18 29 --- --- --- --- PASS ATR 545 broad.mit.edu 37 3 142272711 142272711 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:142272711G>T uc003eux.3 - 11 2610 c.2488C>A c.(2488-2490)CAC>AAC p.H830N NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 830 HEAT 1. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 TCCAATATGTGCTTGATATTT 0.313 Other_conserved_DNA_damage_response_genes 17 29 --- --- --- --- PASS ATR 545 broad.mit.edu 37 3 142281929 142281929 + Silent SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:142281929C>A uc003eux.3 - 4 437 c.315G>T c.(313-315)ACG>ACT p.T105T NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 105 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 GCAGAAGTCTCGTTATGATCC 0.318 Other_conserved_DNA_damage_response_genes 4 139 --- --- --- --- PASS PLSCR1 5359 broad.mit.edu 37 3 146246546 146246546 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:146246546G>A uc003evx.3 - 4 555 c.167C>T c.(166-168)CCT>CTT p.P56L PLSCR1_uc003evy.3_Missense_Mutation_p.P49L|PLSCR1_uc011bnn.1_Intron|PLSCR1_uc003evz.3_Intron|PLSCR1_uc003ewa.2_Missense_Mutation_p.P56L NM_021105 NP_066928 O15162 PLS1_HUMAN phospholipid scramblase 1 56 Cytoplasmic. phospholipid scrambling|platelet activation|response to virus integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding ovary(2) 2 AGCTGGGCCAGGACCTGAATG 0.547 23 24 --- --- --- --- PASS TM4SF4 7104 broad.mit.edu 37 3 149192700 149192700 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:149192700G>A uc003exd.1 + 1 267 c.36G>A c.(34-36)GGG>GGA p.G12G NM_004617 NP_004608 P48230 T4S4_HUMAN transmembrane 4 superfamily member 4 12 Helical; (Potential). integral to membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GCCTGGGGGGGACCCTCATTC 0.527 13 33 --- --- --- --- PASS TM4SF4 7104 broad.mit.edu 37 3 149216509 149216509 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:149216509G>A uc003exd.1 + 4 633 c.402G>A c.(400-402)GGG>GGA p.G134G NM_004617 NP_004608 P48230 T4S4_HUMAN transmembrane 4 superfamily member 4 134 Extracellular (Potential). integral to membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) TCACCAACAGGGATTATCTCA 0.448 10 37 --- --- --- --- PASS FAM194A 131831 broad.mit.edu 37 3 150421547 150421547 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:150421547C>T uc003eyg.2 - 1 196 c.139G>A c.(139-141)GAG>AAG p.E47K FAM194A_uc003eyh.2_Intron NM_152394 NP_689607 Q7L0X2 F194A_HUMAN hypothetical protein LOC131831 47 Glu-rich. skin(2)|ovary(1) 3 tcctccacctcttcctcctcc 0.184 3 13 --- --- --- --- PASS CLRN1 7401 broad.mit.edu 37 3 150645901 150645901 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:150645901C>T uc003eyk.1 - 3 812 c.521G>A c.(520-522)GGG>GAG p.G174E CLRN1OS_uc011bny.1_Intron|CLRN1_uc003eyj.2_Missense_Mutation_p.G98E|CLRN1_uc010hvj.1_RNA NM_174878 NP_777367 P58418 CLRN1_HUMAN clarin 1 isoform a 174 equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound integral to membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) GACATAAGTCCCTTCTTTATA 0.373 13 45 --- --- --- --- PASS MED12L 116931 broad.mit.edu 37 3 151086016 151086016 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:151086016C>T uc003eyp.2 + 23 3460 c.3422C>T c.(3421-3423)GCC>GTC p.A1141V MED12L_uc011bnz.1_Missense_Mutation_p.A1001V|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.A304V NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 1141 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCTCCCCAGGCCTGCTTCTTA 0.507 4 27 --- --- --- --- PASS MME 4311 broad.mit.edu 37 3 154878200 154878200 + Silent SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:154878200A>G uc010hvr.1 + 17 1834 c.1623A>G c.(1621-1623)GTA>GTG p.V541V MME_uc003fab.1_Silent_p.V541V|MME_uc003fac.1_Silent_p.V541V|MME_uc003fad.1_Silent_p.V541V|MME_uc003fae.1_Silent_p.V541V NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 541 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) GAGCAGCTGTAGTCAATGCAT 0.333 75 78 --- --- --- --- PASS PLCH1 23007 broad.mit.edu 37 3 155199797 155199797 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:155199797G>A uc011bok.1 - 23 4319 c.4042C>T c.(4042-4044)CCC>TCC p.P1348S PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.P1310S NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 1348 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CAGAGAGTGGGATCAGCTATT 0.473 9 21 --- --- --- --- PASS PLCH1 23007 broad.mit.edu 37 3 155200114 155200114 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:155200114A>T uc011bok.1 - 23 4002 c.3725T>A c.(3724-3726)TTT>TAT p.F1242Y PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.F1204Y NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 1242 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TCCCTTGCAAAAACCATGCTT 0.473 26 34 --- --- --- --- PASS B3GALNT1 8706 broad.mit.edu 37 3 160804255 160804255 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:160804255G>A uc003fdv.2 - 5 707 c.288C>T c.(286-288)GCC>GCT p.A96A B3GALNT1_uc003fdw.2_Silent_p.A96A|B3GALNT1_uc003fdx.2_Silent_p.A96A|B3GALNT1_uc003fdy.2_Silent_p.A96A|B3GALNT1_uc003fdz.2_Silent_p.A96A|B3GALNT1_uc003fea.2_Silent_p.A96A|B3GALNT1_uc011bpa.1_Intron NM_033169 NP_149359 O75752 B3GL1_HUMAN UDP-Gal:betaGlcNAc beta 96 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity skin(1) 1 LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05) TAACTCTAATGGCCTGCCTGG 0.433 38 47 --- --- --- --- PASS NMD3 51068 broad.mit.edu 37 3 160942831 160942831 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:160942831C>T uc003feb.1 + 3 277 c.158C>T c.(157-159)TCG>TTG p.S53L NMD3_uc003fec.2_Missense_Mutation_p.S53L|NMD3_uc003fed.1_Missense_Mutation_p.S53L NM_015938 NP_057022 Q96D46 NMD3_HUMAN NMD3 homolog 53 protein transport cytoplasm|nucleolus|nucleoplasm ovary(1) 1 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) GTCTCGATTTCGTTCTGCAAA 0.408 36 57 --- --- --- --- PASS OTOL1 131149 broad.mit.edu 37 3 161214691 161214691 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:161214691G>A uc011bpb.1 + 1 96 c.96G>A c.(94-96)ACG>ACA p.T32T NM_001080440 NP_001073909 A6NHN0 OTOL1_HUMAN otolin-1 precursor 32 collagen 0 CCAAATTTACGAAGAAATCTG 0.408 23 40 --- --- --- --- PASS OTOL1 131149 broad.mit.edu 37 3 161220930 161220930 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:161220930G>A uc011bpb.1 + 4 634 c.634G>A c.(634-636)GGG>AGG p.G212R NM_001080440 NP_001073909 A6NHN0 OTOL1_HUMAN otolin-1 precursor 212 Collagen-like 2. collagen 0 AGGAGACCAAGGGGCTATGGG 0.413 7 7 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164716433 164716433 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:164716433C>T uc003fei.2 - 38 4497 c.4435G>A c.(4435-4437)GGG>AGG p.G1479R NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1479 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ATTACAATCCCTCTTTTTCCA 0.388 HNSCC(35;0.089) 21 45 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164764709 164764709 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:164764709C>T uc003fei.2 - 16 1869 c.1807G>A c.(1807-1809)GGA>AGA p.G603R NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 603 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GTATTGTCTCCTAACCAATGC 0.388 HNSCC(35;0.089) 24 46 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164906911 164906911 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:164906911G>A uc003fej.3 - 2 2152 c.1708C>T c.(1708-1710)CTG>TTG p.L570L SLITRK3_uc003fek.2_Silent_p.L570L NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 570 LRRCT 2.|Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 AAGGGGACCAGGTCACAGGTG 0.522 HNSCC(40;0.11) 15 37 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164908399 164908399 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:164908399C>T uc003fej.3 - 2 664 c.220G>A c.(220-222)GAG>AAG p.E74K SLITRK3_uc003fek.2_Missense_Mutation_p.E74K NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 74 Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 GACCAGAACTCGGTAATCTGA 0.338 HNSCC(40;0.11) 26 42 --- --- --- --- PASS SPATA16 83893 broad.mit.edu 37 3 172634134 172634134 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:172634134C>T uc003fin.3 - 9 1634 c.1476G>A c.(1474-1476)CAG>CAA p.Q492Q NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 492 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding ovary(2)|skin(1) 3 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) GACTGATGTCCTGTAGGTAGG 0.463 76 130 --- --- --- --- PASS NLGN1 22871 broad.mit.edu 37 3 173525588 173525588 + Silent SNP C T T rs148161018 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:173525588C>T uc003fio.1 + 4 1035 c.612C>T c.(610-612)ATC>ATT p.I204I NLGN1_uc010hww.1_Silent_p.I244I|NLGN1_uc003fip.1_Silent_p.I204I NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 221 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) GCAATGTGATCGTCATCACAG 0.383 19 24 --- --- --- --- PASS MFN1 55669 broad.mit.edu 37 3 179069770 179069770 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:179069770C>T uc003fjs.2 + 3 321 c.195C>T c.(193-195)TCC>TCT p.S65S MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Silent_p.S93S NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 65 Cytoplasmic (Potential). mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity ovary(2)|large_intestine(1) 3 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) ACAAGCTTTCCATCATTGGTG 0.378 37 99 --- --- --- --- PASS PEX5L 51555 broad.mit.edu 37 3 179537722 179537722 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:179537722C>T uc003fki.1 - 9 995 c.865G>A c.(865-867)GAA>AAA p.E289K PEX5L_uc011bqd.1_Missense_Mutation_p.E246K|PEX5L_uc011bqe.1_Missense_Mutation_p.E97K|PEX5L_uc011bqf.1_Missense_Mutation_p.E181K|PEX5L_uc003fkj.1_Missense_Mutation_p.E254K|PEX5L_uc010hxd.1_Missense_Mutation_p.E287K|PEX5L_uc011bqg.1_Missense_Mutation_p.E265K|PEX5L_uc011bqh.1_Missense_Mutation_p.E230K NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 289 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding ovary(3)|large_intestine(1) 4 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) CGAGCCATTTCTTCCCATTCT 0.438 19 53 --- --- --- --- PASS CCDC39 339829 broad.mit.edu 37 3 180359792 180359792 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:180359792C>T uc010hxe.2 - 13 1978 c.1863G>A c.(1861-1863)CGG>CGA p.R621R CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 621 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TTATGTTTTCCCGTTCTTGAT 0.383 19 34 --- --- --- --- PASS KLHL6 89857 broad.mit.edu 37 3 183211925 183211925 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:183211925C>T uc003flr.2 - 5 1350 c.1292G>A c.(1291-1293)GGC>GAC p.G431D KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_RNA NM_130446 NP_569713 Q8WZ60 KLHL6_HUMAN kelch-like 6 431 Kelch 3. haematopoietic_and_lymphoid_tissue(2)|ovary(1) 3 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) TCTCTGTAAGCCGTCAAAGCC 0.458 38 91 --- --- --- --- PASS YEATS2 55689 broad.mit.edu 37 3 183524833 183524833 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:183524833C>T uc003fly.2 + 28 4159 c.3964C>T c.(3964-3966)CTG>TTG p.L1322L uc003fma.1_5'Flank NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 1322 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding ovary(3)|large_intestine(1) 4 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CAAGTTCTACCTGCCACCAAC 0.498 18 38 --- --- --- --- PASS ABCC5 10057 broad.mit.edu 37 3 183696426 183696426 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:183696426C>T uc003fmg.2 - 9 1326 c.1161G>A c.(1159-1161)GAG>GAA p.E387E ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Silent_p.E387E NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 387 ABC transmembrane type-1 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TCCGACGCTCCTCCTCGCGGA 0.483 15 29 --- --- --- --- PASS ABCC5 10057 broad.mit.edu 37 3 183700297 183700297 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:183700297A>T uc003fmg.2 - 7 1106 c.941T>A c.(940-942)ATT>AAT p.I314N ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Missense_Mutation_p.I314N NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 314 ABC transmembrane type-1 1.|Helical; (Potential). integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TGGTCCCAGAATAATTACATT 0.502 14 38 --- --- --- --- PASS ABCC5 10057 broad.mit.edu 37 3 183700298 183700298 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:183700298T>A uc003fmg.2 - 7 1105 c.940A>T c.(940-942)ATT>TTT p.I314F ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Missense_Mutation_p.I314F NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 314 ABC transmembrane type-1 1.|Helical; (Potential). integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GGTCCCAGAATAATTACATTA 0.502 15 37 --- --- --- --- PASS ECE2 9718 broad.mit.edu 37 3 184008959 184008959 + Missense_Mutation SNP G A A rs138732933 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:184008959G>A uc003fni.3 + 17 2358 c.2320G>A c.(2320-2322)GGC>AGC p.G774S ECE2_uc011brh.1_Missense_Mutation_p.G627S|ECE2_uc003fnl.3_Missense_Mutation_p.G702S|ECE2_uc003fnm.3_Missense_Mutation_p.G656S|ECE2_uc003fnk.3_Missense_Mutation_p.G627S|ECE2_uc011bri.1_Missense_Mutation_p.G689S|ECE2_uc010hxv.2_3'UTR NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 774 Lumenal (Potential).|Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GAGGCTCAACGGCCGCCAGAC 0.622 12 40 --- --- --- --- PASS FAM131A 131408 broad.mit.edu 37 3 184059850 184059850 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:184059850C>T uc003fog.2 + 1 1593 c.229C>T c.(229-231)CCA>TCA p.P77S FAM131A_uc003fob.1_Intron|FAM131A_uc003foc.2_Intron|FAM131A_uc003foe.2_Intron NM_144635 NP_653236 Q6UXB0 F131A_HUMAN hypothetical protein LOC131408 precursor 77 extracellular region breast(1) 1 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCCCCTATCTCCAGGTATTTC 0.597 64 101 --- --- --- --- PASS CLCN2 1181 broad.mit.edu 37 3 184071921 184071921 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:184071921G>A uc003foi.2 - 15 1813 c.1689C>T c.(1687-1689)CCC>CCT p.P563P CLCN2_uc003foh.2_Silent_p.P87P|CLCN2_uc010hya.1_Silent_p.P546P|CLCN2_uc011brl.1_Silent_p.P563P|CLCN2_uc011brm.1_Silent_p.P519P NM_004366 NP_004357 P51788 CLCN2_HUMAN chloride channel 2 563 Cytoplasmic (By similarity). chloride channel complex voltage-gated chloride channel activity 0 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) CAGGCAGGTAGGGCAGTTTCT 0.627 OREG0015949 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 25 --- --- --- --- PASS CLCN2 1181 broad.mit.edu 37 3 184075218 184075218 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:184075218C>T uc003foi.2 - 8 954 c.830G>A c.(829-831)CGG>CAG p.R277Q CLCN2_uc003foh.2_5'Flank|CLCN2_uc010hya.1_Missense_Mutation_p.R277Q|CLCN2_uc011brl.1_Missense_Mutation_p.R277Q|CLCN2_uc011brm.1_Missense_Mutation_p.R233Q|CLCN2_uc011brn.1_Missense_Mutation_p.R277Q NM_004366 NP_004357 P51788 CLCN2_HUMAN chloride channel 2 277 Helical; (By similarity). chloride channel complex voltage-gated chloride channel activity 0 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) GAAGAAGCCCCGCCAGTAGTT 0.637 28 51 --- --- --- --- PASS CHRD 8646 broad.mit.edu 37 3 184106703 184106703 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:184106703G>A uc003fov.2 + 22 2978 c.2732G>A c.(2731-2733)CGG>CAG p.R911Q CHRD_uc003fow.2_Missense_Mutation_p.R541Q|CHRD_uc003fox.2_Missense_Mutation_p.R911Q|CHRD_uc003foy.2_Missense_Mutation_p.R541Q|CHRD_uc010hyc.2_Missense_Mutation_p.R501Q|CHRD_uc011brr.1_Missense_Mutation_p.R453Q NM_003741 NP_003732 Q9H2X0 CHRD_HUMAN chordin precursor 911 VWFC 4. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding skin(2)|ovary(1) 3 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CACTGTGAGCGGGATGACTGT 0.622 4 22 --- --- --- --- PASS MAP3K13 9175 broad.mit.edu 37 3 185191163 185191163 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:185191163C>T uc010hyf.2 + 12 2310 c.2044C>T c.(2044-2046)CCA>TCA p.P682S MAP3K13_uc011brt.1_Missense_Mutation_p.P475S|MAP3K13_uc011bru.1_Missense_Mutation_p.P538S|MAP3K13_uc003fpi.2_Missense_Mutation_p.P682S|MAP3K13_uc010hyg.2_Missense_Mutation_p.P372S NM_004721 NP_004712 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 682 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding ovary(2)|skin(1) 3 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) CCTGCGGAGCCCACTCAGCAA 0.592 32 79 --- --- --- --- PASS DGKG 1608 broad.mit.edu 37 3 185960312 185960312 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:185960312G>A uc003fqa.2 - 20 2344 c.1807C>T c.(1807-1809)CCT>TCT p.P603S DGKG_uc003fqb.2_Missense_Mutation_p.P564S|DGKG_uc003fqc.2_Missense_Mutation_p.P578S|DGKG_uc011brx.1_Missense_Mutation_p.P544S NM_001346 NP_001337 P49619 DGKG_HUMAN diacylglycerol kinase gamma isoform 1 603 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) AATTTTTCAGGATGTTTCTCT 0.532 OREG0015965 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 32 --- --- --- --- PASS RFC4 5984 broad.mit.edu 37 3 186522462 186522462 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:186522462G>A uc003fqz.2 - 2 264 c.41C>T c.(40-42)CCC>CTC p.P14L RFC4_uc011bsc.1_Missense_Mutation_p.P14L|RFC4_uc011bsd.1_Missense_Mutation_p.P14L NM_002916 NP_002907 P35249 RFC4_HUMAN replication factor C 4 14 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1) 5 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) GGTCAGCGGGGGTTTAGTACT 0.448 37 56 --- --- --- --- PASS ADIPOQ 9370 broad.mit.edu 37 3 186572227 186572227 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:186572227C>T uc003fra.2 + 3 553 c.469C>T c.(469-471)CTG>TTG p.L157L ADIPOQ_uc010hyy.2_Silent_p.L157L NM_004797 NP_004788 Q15848 ADIPO_HUMAN adiponectin precursor 157 C1q. brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor collagen|endoplasmic reticulum|extracellular space cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity ovary(1) 1 all_cancers(143;1.2e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.47e-19) GBM - Glioblastoma multiforme(93;0.0776) CATTCCTGGGCTGTACTACTT 0.448 30 68 --- --- --- --- PASS MASP1 5648 broad.mit.edu 37 3 186980425 186980425 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:186980425G>A uc003frh.1 - 3 653 c.321C>T c.(319-321)GTC>GTT p.V107V MASP1_uc003fri.2_Silent_p.V107V|MASP1_uc003frj.2_Silent_p.V76V|MASP1_uc003frk.1_Silent_p.V107V|MASP1_uc011bse.1_Silent_p.V81V NM_001879 NP_001870 P48740 MASP1_HUMAN mannan-binding lectin serine protease 1 isoform 107 Interaction with FCN2.|Interaction with MBL2.|Homodimerization (By similarity).|CUB 1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity ovary(2)|breast(1)|liver(1) 4 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CAGGGGAGAGGACCACCTCCT 0.547 19 39 --- --- --- --- PASS LPP 4026 broad.mit.edu 37 3 188202419 188202419 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:188202419C>T uc003frs.1 + 4 479 c.233C>T c.(232-234)TCC>TTC p.S78F LPP_uc011bsg.1_Missense_Mutation_p.S78F|LPP_uc011bsi.1_Missense_Mutation_p.S78F|LPP_uc003frt.2_Missense_Mutation_p.S78F NM_005578 NP_005569 Q93052 LPP_HUMAN LIM domain containing preferred translocation 78 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1) 165 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) CTAGATGATTCCAGTGCCCTT 0.418 T HMGA2|MLL|C12orf9 lipoma|leukemia 32 71 --- --- --- --- PASS TP63 8626 broad.mit.edu 37 3 189587146 189587146 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:189587146C>T uc003fry.2 + 9 1252 c.1163C>T c.(1162-1164)ACA>ATA p.T388I TP63_uc003frx.2_Missense_Mutation_p.T388I|TP63_uc003frz.2_Missense_Mutation_p.T388I|TP63_uc010hzc.1_Missense_Mutation_p.T388I|TP63_uc003fsa.2_Missense_Mutation_p.T294I|TP63_uc003fsb.2_Missense_Mutation_p.T294I|TP63_uc003fsc.2_Missense_Mutation_p.T294I|TP63_uc003fsd.2_Missense_Mutation_p.T294I|TP63_uc010hzd.1_Missense_Mutation_p.T209I|TP63_uc003fse.1_Missense_Mutation_p.T265I NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 388 Interaction with HIPK2. anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 12 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) ATCCAGATGACATCCATCAAG 0.393 Hay-Wells_syndrome HNSCC(45;0.13) 10 45 --- --- --- --- PASS CLDN16 10686 broad.mit.edu 37 3 190106125 190106125 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:190106125G>A uc003fsi.2 + 1 285 c.217G>A c.(217-219)GAT>AAT p.D73N CLDN16_uc010hze.2_Missense_Mutation_p.D73N NM_006580 NP_006571 Q9Y5I7 CLD16_HUMAN claudin 16 73 Cytoplasmic (Potential). calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity ovary(1) 1 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) CACAATGAGGGATCTTCTTCA 0.517 24 65 --- --- --- --- PASS ATP13A5 344905 broad.mit.edu 37 3 192993070 192993070 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:192993070C>T uc011bsq.1 - 30 3418 c.3418G>A c.(3418-3420)GAA>AAA p.E1140K NM_198505 NP_940907 Q4VNC0 AT135_HUMAN ATPase type 13A5 1140 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(5)|skin(4)|large_intestine(2) 11 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) AGCCAGAGTTCATGATTTTGA 0.458 20 53 --- --- --- --- PASS LRRC15 131578 broad.mit.edu 37 3 194080933 194080933 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:194080933G>A uc003ftu.2 - 2 926 c.840C>T c.(838-840)TCC>TCT p.S280S LRRC15_uc003ftt.2_Silent_p.S286S NM_130830 NP_570843 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 isoform b 280 Extracellular (Potential).|LRR 10. integral to membrane ovary(3) 3 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) GCTCCTTCAGGGAATTCCCAA 0.557 32 34 --- --- --- --- PASS ATP13A3 79572 broad.mit.edu 37 3 194147970 194147970 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:194147970G>A uc003fty.3 - 28 3361 c.2959C>T c.(2959-2961)CCT>TCT p.P987S ATP13A3_uc003ftx.3_5'Flank NM_024524 NP_078800 Q9H7F0 AT133_HUMAN ATPase type 13A3 987 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(1) 1 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) TTCCAGGCAGGATTTAAACTC 0.358 8 27 --- --- --- --- PASS MUC4 4585 broad.mit.edu 37 3 195477834 195477834 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:195477834C>T uc011bto.1 - 24 15873 c.15413G>A c.(15412-15414)CGG>CAG p.R5138Q MUC4_uc010hzq.2_Missense_Mutation_p.R123Q|MUC4_uc003fuz.2_Missense_Mutation_p.R864Q|MUC4_uc003fva.2_Missense_Mutation_p.R746Q|MUC4_uc003fvb.2_Missense_Mutation_p.R782Q|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.R782Q|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.R746Q|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.R830Q|MUC4_uc011bti.1_Missense_Mutation_p.R830Q|MUC4_uc011btj.1_Missense_Mutation_p.R1007Q|MUC4_uc011btk.1_Missense_Mutation_p.R746Q|MUC4_uc011btl.1_Missense_Mutation_p.R775Q|MUC4_uc011btm.1_Missense_Mutation_p.R955Q|MUC4_uc011btn.1_Missense_Mutation_p.R746Q|MUC4_uc003fvo.2_Missense_Mutation_p.R1030Q|MUC4_uc003fvp.2_Missense_Mutation_p.R979Q NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 2023 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CTCACTCCTCCGTGGAACGTG 0.627 26 27 --- --- --- --- PASS MUC4 4585 broad.mit.edu 37 3 195492231 195492231 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:195492231G>A uc011bto.1 - 10 13784 c.13324C>T c.(13324-13326)CGG>TGG p.R4442W MUC4_uc003fuz.2_Missense_Mutation_p.R168W|MUC4_uc003fva.2_Missense_Mutation_p.R50W|MUC4_uc003fvb.2_Missense_Mutation_p.R86W|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.R86W|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.R50W|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.R134W|MUC4_uc011bti.1_Missense_Mutation_p.R134W|MUC4_uc011btj.1_Missense_Mutation_p.R311W|MUC4_uc011btk.1_Missense_Mutation_p.R50W|MUC4_uc011btl.1_Missense_Mutation_p.R79W|MUC4_uc011btm.1_Missense_Mutation_p.R259W|MUC4_uc011btn.1_Missense_Mutation_p.R50W|MUC4_uc003fvo.2_Missense_Mutation_p.R334W|MUC4_uc003fvp.2_Missense_Mutation_p.R283W|MUC4_uc010hzu.1_Missense_Mutation_p.R1182W NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 1327 AMOP. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CTGGGCCACCGAGGCTGGCTC 0.627 11 23 --- --- --- --- PASS KIAA0226 9711 broad.mit.edu 37 3 197427768 197427768 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:197427768G>A uc003fyc.2 - 7 1160 c.977C>T c.(976-978)GCC>GTC p.A326V KIAA0226_uc003fyd.3_Missense_Mutation_p.A266V|KIAA0226_uc003fye.1_Missense_Mutation_p.A33V|KIAA0226_uc003fyf.2_Missense_Mutation_p.A159V|KIAA0226_uc003fyg.2_Missense_Mutation_p.A319V NM_014687 NP_055502 Q92622 RUBIC_HUMAN hypothetical protein LOC9711 isoform 2. 326 Ser-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding 0 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) GTTGCCAATGGCCAGGTACTC 0.587 34 26 --- --- --- --- PASS LRCH3 84859 broad.mit.edu 37 3 197574806 197574806 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:197574806G>A uc011bul.1 + 12 1449 c.1444G>A c.(1444-1446)GAG>AAG p.E482K LRCH3_uc003fyj.1_Missense_Mutation_p.E482K|LRCH3_uc011bum.1_Missense_Mutation_p.E454K|LRCH3_uc011bun.1_Missense_Mutation_p.E328K|LRCH3_uc003fyk.2_Missense_Mutation_p.E77K NM_032773 NP_116162 Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) 482 extracellular region ovary(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) CACTCGGAGAGAGGCTCAGCT 0.478 34 65 --- --- --- --- PASS LMLN 89782 broad.mit.edu 37 3 197717443 197717443 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr3:197717443C>T uc011buo.1 + 9 965 c.943C>T c.(943-945)CAA>TAA p.Q315* LMLN_uc003fyt.2_Nonsense_Mutation_p.Q263*|LMLN_uc010iar.2_Nonsense_Mutation_p.Q315*|LMLN_uc010ias.2_Nonsense_Mutation_p.Q263*|LMLN_uc003fyu.2_Nonsense_Mutation_p.Q75* NM_033029 NP_149018 Q96KR4 LMLN_HUMAN leishmanolysin-like isoform 2 315 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) GGGATTATATCAATGGAGTGA 0.279 18 28 --- --- --- --- PASS ZNF141 7700 broad.mit.edu 37 4 338216 338216 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:338216C>T uc003gaa.2 + 4 401 c.223C>T c.(223-225)CCA>TCA p.P75S ZNF141_uc003fzz.2_Missense_Mutation_p.P75S|ZNF141_uc003gab.2_Missense_Mutation_p.P75S NM_003441 NP_003432 Q15928 ZN141_HUMAN zinc finger protein 141 75 KRAB. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding 0 AGCCAGACCCCCAGGTAGGTG 0.463 16 29 --- --- --- --- PASS ZNF141 7700 broad.mit.edu 37 4 367492 367492 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:367492C>T uc003gaa.2 + 5 1444 c.1266C>T c.(1264-1266)CCC>CCT p.P422P ZNF141_uc003gab.2_Intron NM_003441 NP_003432 Q15928 ZN141_HUMAN zinc finger protein 141 422 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding 0 CAGATAAACCCTACAAATGTA 0.358 47 70 --- --- --- --- PASS MFSD7 84179 broad.mit.edu 37 4 678526 678526 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:678526G>A uc003gay.2 - 5 762 c.705C>T c.(703-705)TTC>TTT p.F235F MFSD7_uc003gaw.2_5'UTR|MFSD7_uc003gax.2_Silent_p.F235F|MFSD7_uc003gaz.2_Silent_p.F116F|MFSD7_uc003gba.2_Silent_p.F138F|MFSD7_uc003gbb.1_Silent_p.F171F NM_032219 NP_115595 Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 235 transmembrane transport integral to membrane 0 GCCCATCCAGGAACTTCTCTG 0.672 22 36 --- --- --- --- PASS POLN 353497 broad.mit.edu 37 4 2082703 2082703 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:2082703G>A uc003ger.2 - 21 2369 c.2369C>T c.(2368-2370)TCC>TTC p.S790F POLN_uc010icg.1_Missense_Mutation_p.S238F|POLN_uc010ich.1_3'UTR NM_181808 NP_861524 Q7Z5Q5 DPOLN_HUMAN DNA-directed DNA polymerase nu 790 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(23;0.0955) CAAGGTGTGGGAAGCAGCCAC 0.602 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 18 41 --- --- --- --- PASS POLN 353497 broad.mit.edu 37 4 2097593 2097593 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:2097593C>T uc003ger.2 - 18 2050 c.2050G>A c.(2050-2052)GTG>ATG p.V684M POLN_uc010icg.1_Missense_Mutation_p.V132M|POLN_uc010ich.1_Missense_Mutation_p.V216M NM_181808 NP_861524 Q7Z5Q5 DPOLN_HUMAN DNA-directed DNA polymerase nu 684 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(23;0.0955) CCATAGACCACCGCGTACACC 0.577 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 19 43 --- --- --- --- PASS GRK4 2868 broad.mit.edu 37 4 3021501 3021501 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:3021501A>T uc003ggn.1 + 9 1330 c.875A>T c.(874-876)TAT>TTT p.Y292F GRK4_uc003ggo.1_Missense_Mutation_p.Y292F|GRK4_uc003ggp.1_Missense_Mutation_p.Y260F|GRK4_uc003ggq.1_Missense_Mutation_p.Y260F NM_182982 NP_892027 P32298 GRK4_HUMAN G protein-coupled receptor kinase 4 isoform 292 Protein kinase. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GCCGTTTTCTATGCTGCAGAG 0.483 31 70 --- --- --- --- PASS HTT 3064 broad.mit.edu 37 4 3188395 3188395 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:3188395C>T uc011bvq.1 + 39 5089 c.4944C>T c.(4942-4944)CTC>CTT p.L1648L NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 1646 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CTTCCTCCCTCCGTCCGGTAG 0.413 22 63 --- --- --- --- PASS HTT 3064 broad.mit.edu 37 4 3188396 3188396 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:3188396C>T uc011bvq.1 + 39 5090 c.4945C>T c.(4945-4947)CGT>TGT p.R1649C NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 1647 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) TTCCTCCCTCCGTCCGGTAGA 0.413 21 63 --- --- --- --- PASS LRPAP1 4043 broad.mit.edu 37 4 3514746 3514746 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:3514746C>T uc003ghi.2 - 8 1114 c.1029G>A c.(1027-1029)CAG>CAA p.Q343Q uc003ghh.3_5'Flank NM_002337 NP_002328 P30533 AMRP_HUMAN low density lipoprotein receptor-related protein 343 LDL receptor binding (Potential). negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport cell surface|integral to membrane|plasma membrane asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.165) CGGACAGGTCCTGCAGATGCT 0.627 8 12 --- --- --- --- PASS ZBTB49 166793 broad.mit.edu 37 4 4314796 4314796 + Missense_Mutation SNP G A A rs147341179 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:4314796G>A uc003ghu.2 + 5 1506 c.1331G>A c.(1330-1332)CGG>CAG p.R444Q ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_Intron|ZBTB49_uc010icz.2_Intron NM_145291 NP_660334 Q6ZSB9 ZBT49_HUMAN zinc finger protein 509 444 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 CACTTACGACGGCATTCTGGT 0.408 18 28 --- --- --- --- PASS STK32B 55351 broad.mit.edu 37 4 5468460 5468460 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:5468460G>A uc003gih.1 + 10 1004 c.940G>A c.(940-942)GAG>AAG p.E314K STK32B_uc010ida.1_Missense_Mutation_p.E267K NM_018401 NP_060871 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 314 ATP binding|metal ion binding|protein serine/threonine kinase activity p.E314*(1) breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 TCCCACATTTGAGCTTGAAGA 0.443 10 30 --- --- --- --- PASS EVC2 132884 broad.mit.edu 37 4 5624517 5624517 + Missense_Mutation SNP C T T rs144270330 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:5624517C>T uc003gij.2 - 14 2302 c.2248G>A c.(2248-2250)GAG>AAG p.E750K EVC2_uc011bwb.1_Missense_Mutation_p.E190K|EVC2_uc003gik.2_Missense_Mutation_p.E670K NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 750 Potential. integral to membrane large_intestine(3)|ovary(2) 5 CGCCGCAGCTCGTCGGTGGCC 0.652 23 29 --- --- --- --- PASS EVC2 132884 broad.mit.edu 37 4 5664932 5664932 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:5664932G>A uc003gij.2 - 9 1101 c.1047C>T c.(1045-1047)ACC>ACT p.T349T EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Silent_p.T269T NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 349 integral to membrane large_intestine(3)|ovary(2) 5 CATCAGCTGAGGTGAACGGCA 0.483 27 55 --- --- --- --- PASS C4orf50 389197 broad.mit.edu 37 4 5966796 5966796 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:5966796G>A uc003git.1 - 6 624 c.534C>T c.(532-534)CCC>CCT p.P178P NM_207405 NP_997288 Q6ZRC1 CD050_HUMAN hypothetical protein LOC389197 178 pancreas(2)|breast(1) 3 ACTCCGGCTCGGGAATAGGCC 0.463 13 24 --- --- --- --- PASS JAKMIP1 152789 broad.mit.edu 37 4 6114460 6114460 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:6114460C>T uc003giu.3 - 2 394 c.118G>A c.(118-120)GAA>AAA p.E40K JAKMIP1_uc010idb.1_Missense_Mutation_p.E40K|JAKMIP1_uc010idc.1_Missense_Mutation_p.E40K|JAKMIP1_uc010idd.1_Missense_Mutation_p.E40K|JAKMIP1_uc011bwc.1_Missense_Mutation_p.E40K|JAKMIP1_uc003giv.3_Missense_Mutation_p.E40K|JAKMIP1_uc010ide.2_Missense_Mutation_p.E40K NM_144720 NP_653321 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 40 Potential.|Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 TTGCTTTTTTCCTGCTGGAAC 0.602 25 54 --- --- --- --- PASS WFS1 7466 broad.mit.edu 37 4 6302909 6302909 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:6302909G>A uc003giy.2 + 8 1553 c.1387G>A c.(1387-1389)GTC>ATC p.V463I WFS1_uc003gix.2_Missense_Mutation_p.V463I|WFS1_uc003giz.2_Missense_Mutation_p.V281I NM_001145853 NP_001139325 O76024 WFS1_HUMAN wolframin 463 Missing (in WFS). endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2) 2 Colorectal(103;0.0512) GGCCACCGAGGTCACCGCCGG 0.642 27 35 --- --- --- --- PASS TBC1D14 57533 broad.mit.edu 37 4 6925544 6925544 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:6925544C>A uc011bwg.1 + 2 507 c.428C>A c.(427-429)CCG>CAG p.P143Q TBC1D14_uc003gjs.3_Missense_Mutation_p.P143Q NM_001113361 NP_001106832 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 isoform a 143 intracellular Rab GTPase activator activity ovary(1)|pancreas(1) 2 CTCTATAGCCCGACCTCCAAA 0.602 5 139 --- --- --- --- PASS ABLIM2 84448 broad.mit.edu 37 4 8108231 8108231 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:8108231G>A uc003gko.2 - 2 287 c.144C>T c.(142-144)TTC>TTT p.F48F ABLIM2_uc003gkj.3_Silent_p.F48F|ABLIM2_uc003gkm.3_Silent_p.F48F|ABLIM2_uc003gkp.2_Silent_p.F48F|ABLIM2_uc003gkq.2_Silent_p.F48F|ABLIM2_uc003gkr.2_Silent_p.F48F|ABLIM2_uc003gks.3_Silent_p.F48F|ABLIM2_uc011bwl.1_Silent_p.F53F NM_001130084 NP_001123556 Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 48 LIM zinc-binding 1. axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding pancreas(3) 3 CTTTACAGACGAAGCACTTGA 0.627 3 4 --- --- --- --- PASS SH3TC1 54436 broad.mit.edu 37 4 8229801 8229801 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:8229801C>T uc003gkv.3 + 12 2481 c.2380C>T c.(2380-2382)CAG>TAG p.Q794* SH3TC1_uc003gkw.3_Nonsense_Mutation_p.Q718*|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 794 TPR 4. binding large_intestine(2)|pancreas(1) 3 CAGCTTGGCCCAGCTGTACAG 0.672 8 13 --- --- --- --- PASS DRD5 1816 broad.mit.edu 37 4 9784494 9784494 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:9784494G>A uc003gmb.3 + 1 1237 c.841G>A c.(841-843)GAC>AAC p.D281N NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 281 Cytoplasmic (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CTGCGCGCCCGACACCAGCCT 0.632 11 33 --- --- --- --- PASS DRD5 1816 broad.mit.edu 37 4 9784694 9784694 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:9784694C>T uc003gmb.3 + 1 1437 c.1041C>T c.(1039-1041)TTC>TTT p.F347F NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 347 Helical; Name=7; (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TCGTCTGGTTCGGCTGGGCTA 0.602 24 56 --- --- --- --- PASS DRD5 1816 broad.mit.edu 37 4 9784866 9784866 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:9784866G>A uc003gmb.3 + 1 1609 c.1213G>A c.(1213-1215)GAA>AAA p.E405K NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 405 Cytoplasmic (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CTTCCACAAGGAAATCGCAGC 0.587 22 27 --- --- --- --- PASS SLIT2 9353 broad.mit.edu 37 4 20525491 20525491 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:20525491G>A uc003gpr.1 + 13 1443 c.1239G>A c.(1237-1239)AAG>AAA p.K413K SLIT2_uc003gps.1_Silent_p.K413K NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 413 LRR 11. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 CCATCGCCAAGGGGACCTTTT 0.428 40 99 --- --- --- --- PASS SLIT2 9353 broad.mit.edu 37 4 20525678 20525678 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:20525678A>T uc003gpr.1 + 14 1520 c.1316A>T c.(1315-1317)AAG>ATG p.K439M SLIT2_uc003gps.1_Missense_Mutation_p.K439M NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 439 LRRCT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 TGCCATCTCAAGTGGCTAGCG 0.483 26 53 --- --- --- --- PASS SLIT2 9353 broad.mit.edu 37 4 20619197 20619197 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:20619197G>A uc003gpr.1 + 36 4476 c.4272G>A c.(4270-4272)GGG>GGA p.G1424G SLIT2_uc003gps.1_Silent_p.G1416G NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1424 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 GCAAGCATGGGAAGTGCAGGC 0.567 11 19 --- --- --- --- PASS KCNIP4 80333 broad.mit.edu 37 4 21699022 21699022 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:21699022C>T uc003gqh.1 - 1 297 c.39G>A c.(37-39)CTG>CTA p.L13L KCNIP4_uc003gqi.1_Intron NM_001035003 NP_001030175 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 isoform 5 Error:Variant_position_missing_in_Q6PIL6_after_alignment plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity 0 Breast(46;0.134) GGGCAAATTTCAGTATTTCAC 0.348 21 35 --- --- --- --- PASS GBA3 57733 broad.mit.edu 37 4 22749332 22749332 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:22749332C>T uc003gqp.3 + 3 791 c.700C>T c.(700-702)CCC>TCC p.P234S GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.P235S NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 234 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 ACCAGCAGATCCCAACTCAGT 0.433 45 116 --- --- --- --- PASS ANAPC4 29945 broad.mit.edu 37 4 25416277 25416277 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:25416277C>T uc003gro.2 + 25 1910 c.1781C>T c.(1780-1782)TCA>TTA p.S594L ANAPC4_uc003grp.2_Missense_Mutation_p.S480L|ANAPC4_uc003grq.2_Missense_Mutation_p.S47L NM_013367 NP_037499 Q9UJX5 APC4_HUMAN anaphase-promoting complex subunit 4 594 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity ovary(2)|large_intestine(1)|pancreas(1)|skin(1) 5 Breast(46;0.0503) CTAGAAGATTCACTTTATAAA 0.234 8 16 --- --- --- --- PASS SEL1L3 23231 broad.mit.edu 37 4 25819808 25819808 + Missense_Mutation SNP T G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:25819808T>G uc003gru.3 - 9 1668 c.1516A>C c.(1516-1518)AAA>CAA p.K506Q NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 506 integral to membrane binding 0 CTGGGGTGTTTGTCTTTCAGC 0.557 13 26 --- --- --- --- PASS TBC1D1 23216 broad.mit.edu 37 4 38091726 38091726 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:38091726C>T uc003gtb.2 + 13 2567 c.2224C>T c.(2224-2226)CAG>TAG p.Q742* TBC1D1_uc011byd.1_Nonsense_Mutation_p.Q836*|TBC1D1_uc010ifd.2_Nonsense_Mutation_p.Q529*|TBC1D1_uc011byf.1_Nonsense_Mutation_p.Q613* NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, 742 nucleus Rab GTPase activator activity ovary(1) 1 GAAGGAAAATCAGAAGCTCCA 0.438 28 50 --- --- --- --- PASS TLR10 81793 broad.mit.edu 37 4 38775613 38775613 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:38775613G>A uc003gti.2 - 2 1978 c.1599C>T c.(1597-1599)TTC>TTT p.F533F TLR10_uc003gtj.2_Silent_p.F533F|TLR10_uc003gtk.2_Silent_p.F533F NM_030956 NP_112218 Q9BXR5 TLR10_HUMAN toll-like receptor 10 precursor 533 Extracellular (Potential).|LRRCT. inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity lung(1)|breast(1) 2 CAAGCTGAATGAAATTTTTTA 0.403 16 55 --- --- --- --- PASS TMEM156 80008 broad.mit.edu 37 4 38990513 38990513 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:38990513G>T uc003gto.2 - 4 805 c.697C>A c.(697-699)CGC>AGC p.R233S TMEM156_uc010ifj.2_Missense_Mutation_p.R233S NM_024943 NP_079219 Q8N614 TM156_HUMAN transmembrane protein 156 233 Cytoplasmic (Potential). integral to membrane skin(1) 1 AGTATTTTGCGGATAGTGAGG 0.353 5 138 --- --- --- --- PASS KLB 152831 broad.mit.edu 37 4 39409003 39409003 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:39409003G>A uc003gua.2 + 1 531 c.434G>A c.(433-435)GGA>GAA p.G145E KLB_uc011byj.1_Missense_Mutation_p.G145E NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN klotho beta 145 Extracellular (Potential).|Glycosyl hydrolase-1 1. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds skin(1) 1 GATTTTATAGGAGTTTCTTTT 0.393 35 83 --- --- --- --- PASS RHOH 399 broad.mit.edu 37 4 40245121 40245121 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:40245121G>A uc003guz.2 + 3 839 c.115G>A c.(115-117)GAG>AAG p.E39K NM_004310 NP_004301 Q15669 RHOH_HUMAN ras homolog gene family, member H precursor 39 Effector region (By similarity). negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation cytosol|mitochondrion|plasma membrane GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding ovary(1)|lung(1) 2 CACAGTGTACGAGAACACAGG 0.607 24 48 --- --- --- --- PASS APBB2 323 broad.mit.edu 37 4 40832492 40832492 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:40832492C>T uc003gvl.2 - 13 2259 c.1629G>A c.(1627-1629)GAG>GAA p.E543E APBB2_uc010ifu.2_Silent_p.E115E|APBB2_uc003gvm.2_Silent_p.E522E|APBB2_uc003gvn.2_Silent_p.E544E|APBB2_uc003gvk.2_5'UTR NM_173075 NP_775098 Q92870 APBB2_HUMAN amyloid beta A4 precursor protein-binding, 543 PID 1. cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding ovary(2)|large_intestine(1) 3 TGGAGCAGATCTCGTGGAGAC 0.463 13 34 --- --- --- --- PASS BEND4 389206 broad.mit.edu 37 4 42119665 42119665 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:42119665C>T uc003gwn.2 - 6 2055 c.1475G>A c.(1474-1476)GGT>GAT p.G492D BEND4_uc003gwm.2_3'UTR NM_207406 NP_997289 Q6ZU67 BEND4_HUMAN BEN domain containing 4 isoform a 492 BEN. 0 TCGGGCGTGACCGACAGCGTC 0.522 4 17 --- --- --- --- PASS GRXCR1 389207 broad.mit.edu 37 4 42895559 42895559 + Silent SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:42895559T>C uc003gwt.2 + 1 276 c.276T>C c.(274-276)TTT>TTC p.F92F NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 92 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity ovary(1) 1 AGAAGGGTTTTGGTACAAGAA 0.448 37 72 --- --- --- --- PASS GABRG1 2565 broad.mit.edu 37 4 46066475 46066475 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:46066475G>A uc003gxb.2 - 5 760 c.608C>T c.(607-609)CCA>CTA p.P203L NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 203 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) AAATTCCAGTGGACAGGAATG 0.269 22 39 --- --- --- --- PASS GABRA2 2555 broad.mit.edu 37 4 46252353 46252353 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:46252353C>T uc003gxc.3 - 9 2001 c.1328G>A c.(1327-1329)AGA>AAA p.R443K GABRA2_uc010igc.2_Missense_Mutation_p.R443K|GABRA2_uc011bzc.1_Missense_Mutation_p.R448K NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 443 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TACAGGTTCTCTGTTTAAATA 0.348 37 38 --- --- --- --- PASS ATP10D 57205 broad.mit.edu 37 4 47559988 47559988 + Missense_Mutation SNP C T T rs143517951 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:47559988C>T uc003gxk.1 + 12 2296 c.2132C>T c.(2131-2133)TCC>TTC p.S711F ATP10D_uc003gxl.1_Intron NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 711 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 AAGGCAGAGTCCCTCCCTGGA 0.572 12 35 --- --- --- --- PASS CORIN 10699 broad.mit.edu 37 4 47682236 47682236 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:47682236C>T uc003gxm.2 - 8 1147 c.1054G>A c.(1054-1056)GAC>AAC p.D352N CORIN_uc011bzf.1_Missense_Mutation_p.D213N|CORIN_uc011bzg.1_Missense_Mutation_p.D285N|CORIN_uc011bzh.1_Intron|CORIN_uc011bzi.1_Intron|CORIN_uc003gxn.3_3'UTR NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 352 Extracellular (Potential).|LDL-receptor class A 3. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 CAGCGCCCGTCCCCGCAGCGA 0.542 4 27 --- --- --- --- PASS CNGA1 1259 broad.mit.edu 37 4 47942791 47942791 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:47942791C>T uc003gxt.3 - 10 919 c.653G>A c.(652-654)CGA>CAA p.R218Q uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.R287Q NM_000087 NP_000078 P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 isoform 218 Cytoplasmic (Potential). response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity ovary(2) 2 TGTCCTTGTTCGTACAAACAT 0.294 12 28 --- --- --- --- PASS TXK 7294 broad.mit.edu 37 4 48073677 48073677 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:48073677C>T uc003gxx.3 - 14 1458 c.1372G>A c.(1372-1374)GAA>AAA p.E458K TXK_uc010igj.2_RNA|TXK_uc011bzj.1_Missense_Mutation_p.E145K NM_003328 NP_003319 P42681 TXK_HUMAN TXK tyrosine kinase 458 Protein kinase. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity 0 GTAAAAACTTCCCACATTAAA 0.388 34 93 --- --- --- --- PASS TXK 7294 broad.mit.edu 37 4 48088613 48088613 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:48088613C>T uc003gxx.3 - 10 912 c.826G>A c.(826-828)GAG>AAG p.E276K NM_003328 NP_003319 P42681 TXK_HUMAN TXK tyrosine kinase 276 Protein kinase. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity 0 CTTCCAATCTCCTTTATAAAA 0.408 14 37 --- --- --- --- PASS TEC 7006 broad.mit.edu 37 4 48169961 48169961 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:48169961G>A uc003gxz.2 - 7 596 c.505C>T c.(505-507)CCC>TCC p.P169S NM_003215 NP_003206 P42680 TEC_HUMAN tec protein tyrosine kinase 169 intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1) 9 ATTGGTGGGGGAGGCCTTCGC 0.383 35 48 --- --- --- --- PASS OCIAD2 132299 broad.mit.edu 37 4 48906512 48906512 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:48906512G>A uc003gyt.2 - 2 258 c.55C>T c.(55-57)CCA>TCA p.P19S OCIAD2_uc003gyu.2_Missense_Mutation_p.P19S NM_001014446 NP_001014446 Q56VL3 OCAD2_HUMAN OCIA domain containing 2 isoform 1 19 OCIA. endosome 0 TGCTTGCTTGGTGGTGGAAAA 0.299 21 53 --- --- --- --- PASS CWH43 80157 broad.mit.edu 37 4 49052864 49052864 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:49052864C>T uc003gyv.2 + 15 2201 c.2019C>T c.(2017-2019)CCC>CCT p.P673P CWH43_uc011bzl.1_Silent_p.P646P NM_025087 NP_079363 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog 673 GPI anchor biosynthetic process integral to membrane skin(2)|ovary(1) 3 ATTTTAATCCCAGGTGAGTTC 0.383 11 27 --- --- --- --- PASS USP46 64854 broad.mit.edu 37 4 53476783 53476783 + Missense_Mutation SNP C G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:53476783C>G uc003gzn.2 - 5 747 c.562G>C c.(562-564)GTT>CTT p.V188L USP46_uc003gzm.3_Missense_Mutation_p.V181L|USP46_uc011bzr.1_Missense_Mutation_p.V165L|USP46_uc011bzs.1_Missense_Mutation_p.V72L NM_022832 NP_073743 P62068 UBP46_HUMAN ubiquitin specific peptidase 46 isoform 1 188 behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1) 1 LUSC - Lung squamous cell carcinoma(32;0.0295) TTGCTACTAACCTGAAACAAA 0.343 15 17 --- --- --- --- PASS LNX1 84708 broad.mit.edu 37 4 54440061 54440061 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:54440061C>T uc003hag.3 - 2 365 c.109G>A c.(109-111)GAT>AAT p.D37N PDGFRA_uc003haa.2_Intron|LNX1_uc003hah.3_RNA NM_001126328 NP_001119800 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1 isoform a 37 cytoplasm zinc ion binding ovary(2)|central_nervous_system(2) 4 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) ATGAGGTCATCATCCACTTCC 0.572 10 16 --- --- --- --- PASS KIT 3815 broad.mit.edu 37 4 55564553 55564553 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:55564553C>T uc010igr.2 + 3 528 c.441C>T c.(439-441)TCC>TCT p.S147S KIT_uc010igs.2_Silent_p.S147S NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 147 Extracellular (Potential).|Ig-like C2-type 2. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1) 5118 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CCAATTATTCCCTCAAGGGGT 0.532 1 Mis|O GIST|AML|TGCT|mastocytosis|mucosal melanoma GIST|epithelioma Piebald trait Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors 10 31 --- --- --- --- PASS KIAA1211 57482 broad.mit.edu 37 4 57180318 57180318 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:57180318C>T uc003hbk.2 + 8 1041 c.650C>T c.(649-651)TCC>TTC p.S217F KIAA1211_uc010iha.2_Missense_Mutation_p.S210F|KIAA1211_uc011bzz.1_Missense_Mutation_p.S127F|KIAA1211_uc003hbm.1_Missense_Mutation_p.S103F NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 217 Glu-rich. ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) CCGCTGGATTCCGAGGAAGAG 0.607 6 23 --- --- --- --- PASS REST 5978 broad.mit.edu 37 4 57797662 57797662 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:57797662C>T uc003hch.2 + 4 2985 c.2638C>T c.(2638-2640)CAA>TAA p.Q880* REST_uc003hci.2_Nonsense_Mutation_p.Q880*|REST_uc010ihf.2_Nonsense_Mutation_p.Q554* NM_005612 NP_005603 Q13127 REST_HUMAN RE1-silencing transcription factor 880 cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 9 Glioma(25;0.08)|all_neural(26;0.181) ATCAGGAGACCAAAAATTACT 0.448 104 154 --- --- --- --- PASS EPHA5 2044 broad.mit.edu 37 4 66233105 66233105 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:66233105C>T uc003hcy.2 - 10 2087 c.1894G>A c.(1894-1896)GAG>AAG p.E632K EPHA5_uc003hcx.2_Missense_Mutation_p.E564K|EPHA5_uc003hcz.2_Missense_Mutation_p.E610K|EPHA5_uc011cah.1_Missense_Mutation_p.E633K|EPHA5_uc011cai.1_Missense_Mutation_p.E611K|EPHA5_uc003hda.2_Missense_Mutation_p.E633K NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 632 Cytoplasmic (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 ATCTTTTCCTCTTCTGGATCT 0.358 TSP Lung(17;0.13) 9 21 --- --- --- --- PASS TMPRSS11D 9407 broad.mit.edu 37 4 68719814 68719814 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:68719814C>T uc003hdq.2 - 3 286 c.221G>A c.(220-222)AGG>AAG p.R74K LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc011caj.1_5'UTR NM_004262 NP_004253 O60235 TM11D_HUMAN transmembrane protease, serine 11D 74 SEA.|Extracellular (Potential). proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 ACTCAAAGTCCTGTATTCCTG 0.284 24 62 --- --- --- --- PASS TMPRSS11A 339967 broad.mit.edu 37 4 68788546 68788546 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:68788546C>T uc003hdr.1 - 7 749 c.628G>A c.(628-630)GAT>AAT p.D210N LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.D207N NM_182606 NP_872412 Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A isoform 1 210 Peptidase S1.|Extracellular (Potential). cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity skin(1) 1 TGGATGTTATCATACTGAAGG 0.468 12 23 --- --- --- --- PASS TMPRSS11F 389208 broad.mit.edu 37 4 68930597 68930597 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:68930597C>T uc003hdt.1 - 8 870 c.821G>A c.(820-822)CGA>CAA p.R274Q LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron|SYT14L_uc010ihn.2_5'Flank NM_207407 NP_997290 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 274 Peptidase S1.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 CCTCACATTTCGTTTCACTGC 0.343 15 20 --- --- --- --- PASS UGT2B15 7366 broad.mit.edu 37 4 69533906 69533906 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:69533906C>T uc011cal.1 - 2 763 c.725G>A c.(724-726)GGA>GAA p.G242E NM_001076 NP_001067 P54855 UDB15_HUMAN UDP glycosyltransferase 2B15 precursor 242 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity 0 AGTGGGTCTTCCTGATGGAAA 0.368 39 63 --- --- --- --- PASS UGT2A3 79799 broad.mit.edu 37 4 69817217 69817217 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:69817217C>T uc003hef.2 - 1 293 c.262G>A c.(262-264)GAA>AAA p.E88K UGT2A3_uc010ihp.1_RNA NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, 88 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(1)|skin(1) 2 ACAAATATTTCATTTTCTTCT 0.363 19 55 --- --- --- --- PASS UGT2B4 7363 broad.mit.edu 37 4 70361096 70361096 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:70361096C>T uc003hek.3 - 1 531 c.484G>A c.(484-486)GAG>AAG p.E162K UGT2B4_uc011cap.1_Missense_Mutation_p.E26K|UGT2B4_uc003hel.3_Missense_Mutation_p.E162K NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 162 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 TTAAGTAACTCGGCCAGCAGC 0.438 14 33 --- --- --- --- PASS UGT2A1 10941 broad.mit.edu 37 4 70513040 70513040 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:70513040T>A uc003hem.3 - 1 386 c.323A>T c.(322-324)TAT>TTT p.Y108F UGT2A1_uc011caq.1_Missense_Mutation_p.Y108F|UGT2A1_uc010ihu.2_Missense_Mutation_p.Y108F|UGT2A1_uc010iht.2_Missense_Mutation_p.Y108F NM_006798 NP_006789 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, 108 Extracellular (Potential). detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity|glucuronosyltransferase activity ovary(1) 1 CATCTCCTGATAGAATCTCCA 0.423 16 51 --- --- --- --- PASS SULT1E1 6783 broad.mit.edu 37 4 70710047 70710047 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:70710047C>T uc003heo.2 - 7 717 c.604G>A c.(604-606)GAG>AAG p.E202K NM_005420 NP_005411 P49888 ST1E1_HUMAN estrogen sulfotransferase 202 PAPS. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity ovary(1) 1 TTTATCACCTCTTTTCTGATA 0.338 15 42 --- --- --- --- PASS CSN2 1447 broad.mit.edu 37 4 70826673 70826673 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:70826673A>G uc003hes.3 - 1 54 c.41T>C c.(40-42)CTT>CCT p.L14P CSN2_uc003het.3_Missense_Mutation_p.L14P NM_001891 NP_001882 P05814 CASB_HUMAN casein beta precursor 14 calcium ion transport extracellular region calcium ion binding|enzyme inhibitor activity|transporter activity 0 CTCCCTTGCAAGAGCAAGAGC 0.388 9 42 --- --- --- --- PASS C4orf35 85438 broad.mit.edu 37 4 71201725 71201725 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:71201725C>T uc003hff.2 + 1 1055 c.969C>T c.(967-969)TTC>TTT p.F323F NM_033122 NP_149113 Q96KC9 CABS1_HUMAN testis development protein NYD-SP26 323 flagellum calcium ion binding 0 all_hematologic(202;0.196) GATATGACTTCGTTGTCCCTG 0.413 28 48 --- --- --- --- PASS SMR3B 10879 broad.mit.edu 37 4 71255408 71255408 + Missense_Mutation SNP G A A rs149721413 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:71255408G>A uc011cas.1 + 3 164 c.83G>A c.(82-84)GGA>GAA p.G28E SMR3B_uc003hfh.2_Missense_Mutation_p.G28E NM_006685 NP_006676 P02814 SMR3B_HUMAN submaxillary gland androgen regulated protein 3 28 Pro-rich. extracellular space skin(1) 1 all_hematologic(202;0.196) GGCCCCAGGGGACCATATCCA 0.478 16 38 --- --- --- --- PASS ENAM 10117 broad.mit.edu 37 4 71510361 71510361 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:71510361C>T uc011caw.1 + 9 3499 c.3218C>T c.(3217-3219)CCA>CTA p.P1073L NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN enamelin precursor 1073 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel ovary(3) 3 Lung(101;0.235) ACCGGAACTCCATCTAGCGAT 0.438 28 76 --- --- --- --- PASS IGJ 3512 broad.mit.edu 37 4 71527909 71527909 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:71527909G>A uc003hfn.3 - 2 229 c.88C>T c.(88-90)CTT>TTT p.L30F IGJ_uc010ihz.2_Missense_Mutation_p.L46F NM_144646 NP_653247 P01591 IGJ_HUMAN immunoglobulin J chain 30 immune response extracellular region antigen binding 0 Lung(101;0.235) TTGTCAACAAGAACAATCCTT 0.343 23 37 --- --- --- --- PASS RUFY3 22902 broad.mit.edu 37 4 71672244 71672244 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:71672244G>A uc003hfr.2 + 18 2326 c.1731G>A c.(1729-1731)AAG>AAA p.K577K RUFY3_uc011cay.1_Silent_p.K513K NM_001037442 NP_001032519 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 isoform 1 Error:Variant_position_missing_in_Q7L099_after_alignment negative regulation of axonogenesis filopodium|growth cone 0 all_hematologic(202;0.248) Lung(101;0.235) ATGTGTGTAAGAACTGCAGCG 0.443 38 95 --- --- --- --- PASS NPFFR2 10886 broad.mit.edu 37 4 73013255 73013255 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:73013255C>T uc003hgg.2 + 4 1393 c.1295C>T c.(1294-1296)CCC>CTC p.P432L NPFFR2_uc010iig.1_Missense_Mutation_p.P214L|NPFFR2_uc003hgi.2_Missense_Mutation_p.P333L|NPFFR2_uc003hgh.2_Missense_Mutation_p.P330L|NPFFR2_uc003hgj.2_RNA NM_004885 NP_004876 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 isoform 1 432 Helical; Name=7; (Potential). detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) AGTGTCAATCCCATCATTTAT 0.458 27 41 --- --- --- --- PASS ADAMTS3 9508 broad.mit.edu 37 4 73169723 73169723 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:73169723C>T uc003hgk.1 - 17 2372 c.2335G>A c.(2335-2337)GAT>AAT p.D779N ADAMTS3_uc003hgl.2_Missense_Mutation_p.D120N NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 779 Spacer. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ACACCAAGATCTATGAAGGTC 0.413 66 157 --- --- --- --- PASS ALB 213 broad.mit.edu 37 4 74270067 74270067 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:74270067C>T uc003hgs.3 + 1 96 c.23C>T c.(22-24)TCC>TTC p.S8F ALB_uc003hgw.3_Missense_Mutation_p.S8F|ALB_uc011cbe.1_5'UTR|ALB_uc003hgt.3_Missense_Mutation_p.S8F|ALB_uc010iii.2_Missense_Mutation_p.S8F|ALB_uc003hgu.3_5'UTR|ALB_uc003hgv.3_5'UTR|ALB_uc011cbf.1_5'Flank NM_000477 NP_000468 P02768 ALBU_HUMAN albumin preproprotein 8 bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding ovary(3)|skin(3) 6 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) ACCTTTATTTCCCTTCTTTTT 0.393 23 31 --- --- --- --- PASS ALB 213 broad.mit.edu 37 4 74283961 74283961 + Missense_Mutation SNP G A A rs74826639 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:74283961G>A uc003hgs.3 + 12 1658 c.1585G>A c.(1585-1587)GAA>AAA p.E529K ALB_uc003hgw.3_Missense_Mutation_p.E337K|ALB_uc011cbe.1_Missense_Mutation_p.E208K|ALB_uc003hgt.3_Missense_Mutation_p.E529K|ALB_uc010iii.2_Missense_Mutation_p.E414K|ALB_uc003hgu.3_Missense_Mutation_p.E379K|ALB_uc003hgv.3_Missense_Mutation_p.E208K|ALB_uc011cbf.1_Missense_Mutation_p.E419K|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_Missense_Mutation_p.E208K NM_000477 NP_000468 P02768 ALBU_HUMAN albumin preproprotein 529 Albumin 3. E -> K (in Ortonovo). bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding ovary(3)|skin(3) 6 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) GTTTAATGCTGAAACATTCAC 0.418 19 53 --- --- --- --- PASS CXCL5 6374 broad.mit.edu 37 4 74863790 74863790 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:74863790C>T uc003hhk.2 - 3 383 c.265G>A c.(265-267)GAA>AAA p.E89K NM_002994 NP_002985 P42830 CXCL5_HUMAN chemokine (C-X-C motif) ligand 5 precursor 89 cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction extracellular space chemokine activity 0 Breast(15;0.00136) all cancers(17;0.00273)|Lung(101;0.196) AGACAAATTTCCTTCCCGTTC 0.423 37 85 --- --- --- --- PASS PARM1 25849 broad.mit.edu 37 4 75937898 75937898 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:75937898G>A uc003hih.1 + 2 547 c.307G>A c.(307-309)GAC>AAC p.D103N NM_015393 NP_056208 Q6UWI2 PARM1_HUMAN prostatic androgen-repressed message-1 103 Extracellular (Potential). positive regulation of telomerase activity early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane ovary(1) 1 CACAAACACAGACCCCTCACC 0.542 78 87 --- --- --- --- PASS CDKL2 8999 broad.mit.edu 37 4 76551160 76551160 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:76551160C>T uc003hiq.2 - 2 538 c.13G>A c.(13-15)GAA>AAA p.E5K CDKL2_uc011cbp.1_Missense_Mutation_p.E5K|CDKL2_uc010iix.1_RNA NM_003948 NP_003939 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 5 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity ovary(2)|stomach(2)|breast(2)|skin(1) 7 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) CCCAGGTTTTCATATTTTTCC 0.353 23 41 --- --- --- --- PASS CXCL10 3627 broad.mit.edu 37 4 76943560 76943560 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:76943560C>T uc003hjl.3 - 3 307 c.237G>A c.(235-237)TCG>TCA p.S79S ART3_uc003hji.2_Intron|ART3_uc003hjj.2_Intron|ART3_uc003hjk.2_Intron NM_001565 NP_001556 P02778 CXL10_HUMAN small inducible cytokine B10 precursor 79 blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation extracellular space cAMP-dependent protein kinase regulator activity|chemokine activity 0 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TGATGGCCTTCGATTCTGGAT 0.388 23 52 --- --- --- --- PASS ART3 419 broad.mit.edu 37 4 77003049 77003049 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:77003049G>A uc003hjo.2 + 3 261 c.142G>A c.(142-144)GAA>AAA p.E48K ART3_uc003hji.2_Missense_Mutation_p.E48K|ART3_uc003hjj.2_Missense_Mutation_p.E48K|ART3_uc003hjk.2_Missense_Mutation_p.E48K|ART3_uc010ija.1_Missense_Mutation_p.E48K|ART3_uc003hjn.2_Missense_Mutation_p.E48K|ART3_uc003hjp.2_Intron|ART3_uc010ijb.2_Intron|ART3_uc003hjq.2_Intron|ART3_uc003hjr.2_Missense_Mutation_p.E18K|ART3_uc010ijc.2_Missense_Mutation_p.E18K|ART3_uc010ijd.2_Missense_Mutation_p.E18K NM_001130016 NP_001123488 Q13508 NAR3_HUMAN ADP-ribosyltransferase 3 isoform a 48 protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity ovary(2) 2 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GGACAGGATGGAAATTAAATA 0.403 31 77 --- --- --- --- PASS CCDC158 339965 broad.mit.edu 37 4 77278671 77278671 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:77278671C>T uc003hkb.3 - 13 2182 c.2029G>A c.(2029-2031)GAA>AAA p.E677K NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 677 Potential. skin(3)|ovary(2)|pancreas(1) 6 TTTAAGACTTCATACTCCTCT 0.254 7 11 --- --- --- --- PASS GK2 2712 broad.mit.edu 37 4 80328210 80328210 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:80328210C>T uc003hlu.2 - 1 1163 c.1145G>A c.(1144-1146)GGC>GAC p.G382D NM_033214 NP_149991 Q14410 GLPK2_HUMAN glycerol kinase 2 382 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity ovary(2)|skin(2) 4 CTGAGTGAGGCCACAGAGTAT 0.438 30 79 --- --- --- --- PASS PRKG2 5593 broad.mit.edu 37 4 82095970 82095970 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:82095970C>T uc003hmh.2 - 2 619 c.605G>A c.(604-606)GGA>GAA p.G202E PRKG2_uc011cch.1_Missense_Mutation_p.G202E NM_006259 NP_006250 Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 202 cGMP 1. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1) 7 GATATGGTTTCCTGGTTCTCC 0.368 31 65 --- --- --- --- PASS SCD5 79966 broad.mit.edu 37 4 83626521 83626521 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:83626521G>A uc003hna.2 - 2 598 c.278C>T c.(277-279)GCC>GTC p.A93V SCD5_uc003hnb.3_Missense_Mutation_p.A93V|SCD5_uc003hnc.2_Missense_Mutation_p.A93V NM_001037582 NP_001032671 Q86SK9 SCD5_HUMAN stearoyl-CoA desaturase 5 isoform a 93 Helical; (Potential). fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity ovary(1) 1 Colorectal(4;0.0323)|Hepatocellular(203;0.115) CAAGCGATGGGCACCAGCTGT 0.577 10 24 --- --- --- --- PASS HELQ 113510 broad.mit.edu 37 4 84374945 84374945 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:84374945C>T uc003hom.2 - 2 630 c.451G>A c.(451-453)GAA>AAA p.E151K HELQ_uc010ikb.2_Missense_Mutation_p.E151K|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA|HELQ_uc003hon.1_Missense_Mutation_p.E45K|HELQ_uc003hoo.1_Missense_Mutation_p.E114K|HELQ_uc003hop.1_Missense_Mutation_p.E45K|HELQ_uc003hoq.1_Missense_Mutation_p.E151K|MRPS18C_uc003hor.3_5'Flank|MRPS18C_uc011ccu.1_5'Flank NM_133636 NP_598375 Q8TDG4 HELQ_HUMAN DNA helicase HEL308 151 ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|breast(1)|skin(1) 3 TTGATACTTTCCGAGCAAAGA 0.393 Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 45 115 --- --- --- --- PASS HELQ 113510 broad.mit.edu 37 4 84374946 84374946 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:84374946C>T uc003hom.2 - 2 629 c.450G>A c.(448-450)TCG>TCA p.S150S HELQ_uc010ikb.2_Silent_p.S150S|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA|HELQ_uc003hon.1_Silent_p.S44S|HELQ_uc003hoo.1_Silent_p.S113S|HELQ_uc003hop.1_Silent_p.S44S|HELQ_uc003hoq.1_Silent_p.S150S|MRPS18C_uc003hor.3_5'Flank|MRPS18C_uc011ccu.1_5'Flank NM_133636 NP_598375 Q8TDG4 HELQ_HUMAN DNA helicase HEL308 150 ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|breast(1)|skin(1) 3 TGATACTTTCCGAGCAAAGAT 0.388 Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 46 116 --- --- --- --- PASS NKX6-1 4825 broad.mit.edu 37 4 85416988 85416988 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:85416988G>A uc003hpa.1 - 2 686 c.680C>T c.(679-681)TCC>TTC p.S227F NM_006168 NP_006159 P78426 NKX61_HUMAN NK6 transcription factor related, locus 1 227 Repressor domain (By similarity). detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation nucleus 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.0013) CAACAAAATGGATCCTTGATC 0.448 26 31 --- --- --- --- PASS PTPN13 5783 broad.mit.edu 37 4 87610231 87610231 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:87610231C>T uc003hpz.2 + 5 914 c.434C>T c.(433-435)TCT>TTT p.S145F PTPN13_uc003hpy.2_Missense_Mutation_p.S145F|PTPN13_uc003hqa.2_Missense_Mutation_p.S145F|PTPN13_uc003hqb.2_Missense_Mutation_p.S145F NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 145 KIND. cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) GCTCGAGTTTCTGTTCGGACT 0.428 38 59 --- --- --- --- PASS AFF1 4299 broad.mit.edu 37 4 88056849 88056849 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:88056849C>T uc003hqj.3 + 20 4036 c.3629C>T c.(3628-3630)CCT>CTT p.P1210L AFF1_uc011ccz.1_Missense_Mutation_p.P1218L|AFF1_uc003hqk.3_Missense_Mutation_p.P1211L|AFF1_uc011cda.1_Missense_Mutation_p.P849L NM_005935 NP_005926 P51825 AFF1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1210 nucleus sequence-specific DNA binding transcription factor activity breast(1) 1 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) ACCAAAACACCTTAATGGAGC 0.453 7 11 --- --- --- --- PASS KLHL8 57563 broad.mit.edu 37 4 88106539 88106539 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:88106539G>T uc011cdb.1 - 3 1014 c.629C>A c.(628-630)CCG>CAG p.P210Q KLHL8_uc003hql.1_Missense_Mutation_p.P210Q|KLHL8_uc003hqm.1_Missense_Mutation_p.P134Q|KLHL8_uc003hqn.1_Intron|KLHL8_uc010ikj.1_Intron NM_020803 NP_065854 Q9P2G9 KLHL8_HUMAN kelch-like 8 210 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000603) GAGGTGCTGCGGTGATACACT 0.423 4 108 --- --- --- --- PASS DSPP 1834 broad.mit.edu 37 4 88532087 88532087 + Missense_Mutation SNP T G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:88532087T>G uc003hqu.2 + 2 147 c.27T>G c.(25-27)ATT>ATG p.I9M NM_014208 NP_055023 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein preproprotein 9 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent central_nervous_system(1) 1 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) ATTTTTGCATTTGGGCAGTAG 0.284 20 37 --- --- --- --- PASS IBSP 3381 broad.mit.edu 37 4 88732595 88732595 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:88732595G>A uc003hqx.3 + 7 585 c.487G>A c.(487-489)GAA>AAA p.E163K NM_004967 NP_004958 P21815 SIAL_HUMAN integrin-binding sialoprotein precursor 163 Asp/Glu-rich (acidic). biomineral tissue development|cell adhesion|ossification 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) aaatgaaaacgaagaaagcga 0.333 25 34 --- --- --- --- PASS IBSP 3381 broad.mit.edu 37 4 88732970 88732970 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:88732970G>A uc003hqx.3 + 7 960 c.862G>A c.(862-864)GAC>AAC p.D288N NM_004967 NP_004958 P21815 SIAL_HUMAN integrin-binding sialoprotein precursor 288 Cell attachment site. biomineral tissue development|cell adhesion|ossification 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) ACCTCGTGGGGACAATTACCG 0.478 30 59 --- --- --- --- PASS SPP1 6696 broad.mit.edu 37 4 88902860 88902860 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:88902860C>T uc003hra.2 + 6 615 c.450C>T c.(448-450)GTC>GTT p.V150V SPP1_uc003hrb.2_Silent_p.V123V|SPP1_uc003hrc.2_Silent_p.V136V|SPP1_uc011cde.1_Silent_p.V163V|SPP1_uc003hrd.2_Silent_p.V109V NM_001040058 NP_001035147 P10451 OSTP_HUMAN secreted phosphoprotein 1 isoform a 150 biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D extracellular space cytokine activity ovary(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;9.87e-05) CTCCAGTTGTCCCCACAGTAG 0.468 36 85 --- --- --- --- PASS PKD2 5311 broad.mit.edu 37 4 88957445 88957445 + Silent SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:88957445C>A uc003hre.2 + 3 849 c.783C>A c.(781-783)CCC>CCA p.P261P NM_000297 NP_000288 Q13563 PKD2_HUMAN polycystin 2 261 Extracellular (Potential). basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity skin(1) 1 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) TAGACACCCCCGTGTCCAAAA 0.433 4 78 --- --- --- --- PASS HERC5 51191 broad.mit.edu 37 4 89383489 89383489 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:89383489G>A uc003hrt.2 + 4 823 c.670G>A c.(670-672)GGC>AGC p.G224S NM_016323 NP_057407 Q9UII4 HERC5_HUMAN hect domain and RLD 5 224 RCC1 3. innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity ovary(4)|lung(3)|skin(2) 9 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) TGGACAACTAGGCCTGGGCCA 0.438 13 35 --- --- --- --- PASS HERC3 8916 broad.mit.edu 37 4 89591352 89591352 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:89591352C>T uc003hrw.1 + 16 2026 c.1860C>T c.(1858-1860)CTC>CTT p.L620L HERC3_uc011cdn.1_Silent_p.L502L|HERC3_uc011cdo.1_Silent_p.L64L NM_014606 NP_055421 Q15034 HERC3_HUMAN hect domain and RLD 3 620 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity lung(2)|prostate(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(123;0.000319) TTTCCAATCTCGTGGACATTC 0.338 23 55 --- --- --- --- PASS HERC3 8916 broad.mit.edu 37 4 89627996 89627996 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:89627996C>T uc003hrw.1 + 26 3204 c.3038C>T c.(3037-3039)CCG>CTG p.P1013L HERC3_uc011cdn.1_Missense_Mutation_p.P895L|HERC3_uc011cdo.1_Missense_Mutation_p.P457L|FAM13AOS_uc003hry.1_5'Flank NM_014606 NP_055421 Q15034 HERC3_HUMAN hect domain and RLD 3 1013 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity lung(2)|prostate(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(123;0.000319) GAGTACTTGCCGGTGGCCCAC 0.577 OREG0016265 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 46 --- --- --- --- PASS MMRN1 22915 broad.mit.edu 37 4 90857133 90857133 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:90857133G>A uc003hst.2 + 6 2373 c.2302G>A c.(2302-2304)GAT>AAT p.D768N MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.D510N NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 768 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen ovary(4) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) ATGTACCTCCGATATGGAAAC 0.313 19 28 --- --- --- --- PASS UNC5C 8633 broad.mit.edu 37 4 96140178 96140178 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:96140178G>A uc003htp.1 - 9 1741 c.1587C>T c.(1585-1587)TCC>TCT p.S529S UNC5C_uc010ilc.1_Silent_p.S548S|UNC5C_uc003htq.2_Silent_p.S548S NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 529 Cytoplasmic (Potential).|ZU5. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) ATGCGGTACAGGATGGATCAG 0.488 23 51 --- --- --- --- PASS UNC5C 8633 broad.mit.edu 37 4 96163714 96163714 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:96163714C>T uc003htp.1 - 7 1128 c.974G>A c.(973-975)TGG>TAG p.W325* UNC5C_uc010ilc.1_Nonsense_Mutation_p.W325*|UNC5C_uc003htq.2_Nonsense_Mutation_p.W325* NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 325 Extracellular (Potential).|TSP type-1 2. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) ACAAGTAGACCACTTGCTCCA 0.597 7 13 --- --- --- --- PASS UNC5C 8633 broad.mit.edu 37 4 96256570 96256570 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:96256570C>T uc003htp.1 - 2 491 c.337G>A c.(337-339)GAA>AAA p.E113K UNC5C_uc010ilc.1_Missense_Mutation_p.E113K|UNC5C_uc003htq.2_Missense_Mutation_p.E113K NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 113 Extracellular (Potential).|Ig-like. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) CCGGAAGTTTCATCTACTCTT 0.398 12 40 --- --- --- --- PASS PDHA2 5161 broad.mit.edu 37 4 96762081 96762081 + Silent SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:96762081T>C uc003htr.3 + 1 843 c.780T>C c.(778-780)GTT>GTC p.V260V NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 260 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) TTCTGTGTGTTCGTGAGGCAA 0.478 32 37 --- --- --- --- PASS TSPAN5 10098 broad.mit.edu 37 4 99403161 99403161 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:99403161C>T uc003hub.2 - 4 795 c.445G>A c.(445-447)GAA>AAA p.E149K TSPAN5_uc011cdz.1_Missense_Mutation_p.E78K NM_005723 NP_005714 P62079 TSN5_HUMAN transmembrane 4 superfamily member 9 149 Extracellular (Potential). integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(123;1.89e-07) CTTACATATTCCTGGGTGAAG 0.403 15 63 --- --- --- --- PASS EIF4E 1977 broad.mit.edu 37 4 99823128 99823128 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:99823128G>A uc003hue.2 - 2 1547 c.24C>T c.(22-24)ACC>ACT p.T8T EIF4E_uc011cea.1_Silent_p.T28T|EIF4E_uc011ceb.1_Silent_p.T8T|EIF4E_uc011cec.1_Silent_p.T8T NM_001968 NP_001959 P06730 IF4E_HUMAN eukaryotic translation initiation factor 4E 8 G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex protein binding|RNA cap binding|translation initiation factor activity lung(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227) GAGTAGGGGTGGTTTCCTAGT 0.358 18 72 --- --- --- --- PASS ADH6 130 broad.mit.edu 37 4 100131365 100131365 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:100131365G>A uc003hup.3 - 5 535 c.441C>T c.(439-441)TTC>TTT p.F147F uc003hum.1_Intron|ADH6_uc003huo.2_Silent_p.F147F|ADH6_uc011cef.1_Intron|ADH6_uc010ile.2_Silent_p.F147F NM_000672 NP_000663 P28332 ADH6_HUMAN class V alcohol dehydrogenase isoform 2 147 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding ovary(1)|kidney(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) TGTATTCACAGAAGGTGCTGG 0.413 20 36 --- --- --- --- PASS ADH1A 124 broad.mit.edu 37 4 100200657 100200657 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:100200657C>T uc003hur.1 - 8 1100 c.1029G>A c.(1027-1029)TTG>TTA p.L343L uc003hum.1_Intron|ADH1A_uc011ceg.1_Silent_p.L343L NM_000667 NP_000658 P07327 ADH1A_HUMAN class I alcohol dehydrogenase, alpha subunit 343 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) TTAATGCATCCAATGAAAACT 0.323 21 55 --- --- --- --- PASS DDIT4L 115265 broad.mit.edu 37 4 101109073 101109073 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:101109073C>T uc003hvq.2 - 3 546 c.343G>A c.(343-345)GAA>AAA p.E115K NM_145244 NP_660287 Q96D03 DDT4L_HUMAN DNA-damage-inducible transcript 4-like 115 negative regulation of signal transduction cytoplasm ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;5.75e-09) CATACATTTTCAATTTCCAAG 0.458 19 39 --- --- --- --- PASS DDIT4L 115265 broad.mit.edu 37 4 101109182 101109182 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:101109182G>A uc003hvq.2 - 3 437 c.234C>T c.(232-234)GTC>GTT p.V78V NM_145244 NP_660287 Q96D03 DDT4L_HUMAN DNA-damage-inducible transcript 4-like 78 negative regulation of signal transduction cytoplasm ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;5.75e-09) CAGGGACAAGGACCTTTGAGC 0.463 48 83 --- --- --- --- PASS NFKB1 4790 broad.mit.edu 37 4 103455017 103455017 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:103455017T>C uc011ceq.1 + 4 598 c.131T>C c.(130-132)CTT>CCT p.L44P NFKB1_uc011cep.1_Missense_Mutation_p.L45P NM_003998 NP_003989 P19838 NFKB1_HUMAN nuclear factor kappa-B, subunit 1 isoform 1 44 RHD. anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2)|breast(2)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) GGCCCATACCTTCAAATATTA 0.338 9 25 --- --- --- --- PASS COL25A1 84570 broad.mit.edu 37 4 109769932 109769932 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:109769932C>T uc003hze.1 - 26 1948 c.1417G>A c.(1417-1419)GGA>AGA p.G473R COL25A1_uc003hzg.2_Missense_Mutation_p.G473R|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Missense_Mutation_p.G231R NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 473 Extracellular (Potential).|Collagen-like 6. collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CCATCCATTCCTGGGATTCCT 0.353 23 35 --- --- --- --- PASS ALPK1 80216 broad.mit.edu 37 4 113353610 113353610 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:113353610C>T uc003iap.3 + 11 3186 c.2907C>T c.(2905-2907)ATC>ATT p.I969I ALPK1_uc003ian.3_Silent_p.I969I|ALPK1_uc011cfx.1_Silent_p.I891I|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Silent_p.I797I NM_025144 NP_079420 Q96QP1 ALPK1_HUMAN alpha-kinase 1 969 ATP binding|protein serine/threonine kinase activity ovary(5) 5 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) GGAAAGAGATCCTTGAGGCTC 0.488 22 56 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114257063 114257063 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:114257063C>T uc003ibe.3 + 30 3541 c.3441C>T c.(3439-3441)TTC>TTT p.F1147F ANK2_uc003ibd.3_Silent_p.F1138F|ANK2_uc003ibf.3_Silent_p.F1147F|ANK2_uc011cgc.1_Silent_p.F323F|ANK2_uc003ibg.3_Silent_p.F142F|ANK2_uc003ibc.2_Silent_p.F1123F|ANK2_uc011cgb.1_Silent_p.F1162F NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1114 Interaction with SPTBN1. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CCCGAGACTTCCCACAGTACT 0.498 33 65 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114278065 114278065 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:114278065G>A uc003ibe.3 + 38 8391 c.8291G>A c.(8290-8292)AGA>AAA p.R2764K ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.R66K|ANK2_uc011cgb.1_Missense_Mutation_p.R2779K NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2731 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AAGCTAAACAGAGACACTGAT 0.468 30 48 --- --- --- --- PASS CAMK2D 817 broad.mit.edu 37 4 114680559 114680559 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:114680559G>A uc003ibi.2 - 2 936 c.77C>T c.(76-78)TCA>TTA p.S26L CAMK2D_uc003ibj.2_Missense_Mutation_p.S26L|CAMK2D_uc003ibk.2_Missense_Mutation_p.S26L|CAMK2D_uc003ibo.3_Missense_Mutation_p.S26L|CAMK2D_uc003ibm.2_Missense_Mutation_p.S26L|CAMK2D_uc003ibn.2_Missense_Mutation_p.S26L|CAMK2D_uc003ibl.2_Missense_Mutation_p.S26L NM_001221 NP_001212 Q13557 KCC2D_HUMAN calcium/calmodulin-dependent protein kinase II 26 ATP (By similarity).|Protein kinase. interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1) 1 Ovarian(17;0.00369)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000271) TCTCACCACTGAGAATGCCCC 0.318 20 59 --- --- --- --- PASS NDST3 9348 broad.mit.edu 37 4 119158208 119158208 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:119158208G>A uc003ibx.2 + 10 2354 c.1951G>A c.(1951-1953)GAT>AAT p.D651N NDST3_uc011cgf.1_Missense_Mutation_p.G555E NM_004784 NP_004775 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan 651 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity large_intestine(1) 1 TAGGTATATGGATTTCTTCCC 0.378 11 22 --- --- --- --- PASS SYNPO2 171024 broad.mit.edu 37 4 119952491 119952491 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:119952491T>C uc003icm.3 + 4 2757 c.2561T>C c.(2560-2562)GTT>GCT p.V854A SYNPO2_uc010ina.2_Missense_Mutation_p.V854A|SYNPO2_uc010inb.2_Missense_Mutation_p.V854A|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.V782A NM_001128933 NP_001122405 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform b 854 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 GTCAATGCTGTTCAGCCTGGT 0.502 26 86 --- --- --- --- PASS MYOZ2 51778 broad.mit.edu 37 4 120085491 120085491 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:120085491C>T uc003icp.3 + 5 715 c.502C>T c.(502-504)CCT>TCT p.P168S NM_016599 NP_057683 Q9NPC6 MYOZ2_HUMAN myozenin 2 168 protein phosphatase 2B binding 0 GGCTTTATATCCTAAACTTTT 0.443 24 28 --- --- --- --- PASS ANXA5 308 broad.mit.edu 37 4 122591138 122591138 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:122591138G>A uc003idu.3 - 10 821 c.751C>T c.(751-753)CTT>TTT p.L251F ANXA5_uc003idv.3_Missense_Mutation_p.L251F|ANXA5_uc003idw.3_RNA|ANXA5_uc010inm.2_Missense_Mutation_p.L251F|ANXA5_uc010inn.2_Missense_Mutation_p.L191F|ANXA5_uc010ino.2_Missense_Mutation_p.L151F NM_001154 NP_001145 P08758 ANXA5_HUMAN annexin 5 251 anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity ovary(1) 1 GTCTCTGCAAGGTAGGCAGGT 0.299 13 35 --- --- --- --- PASS ANXA5 308 broad.mit.edu 37 4 122591139 122591139 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:122591139G>A uc003idu.3 - 10 820 c.750C>T c.(748-750)TAC>TAT p.Y250Y ANXA5_uc003idv.3_Silent_p.Y250Y|ANXA5_uc003idw.3_RNA|ANXA5_uc010inm.2_Silent_p.Y250Y|ANXA5_uc010inn.2_Silent_p.Y190Y|ANXA5_uc010ino.2_Silent_p.Y150Y NM_001154 NP_001145 P08758 ANXA5_HUMAN annexin 5 250 anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity ovary(1) 1 TCTCTGCAAGGTAGGCAGGTA 0.299 13 35 --- --- --- --- PASS TMEM155 132332 broad.mit.edu 37 4 122682999 122682999 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:122682999G>T uc003idx.1 - 4 599 c.40C>A c.(40-42)CTA>ATA p.L14I TMEM155_uc003idy.1_Missense_Mutation_p.L14I NM_152399 NP_689612 Q4W5P6 TM155_HUMAN transmembrane protein 155 precursor 14 extracellular region 0 TTGGAAATTAGTGCAACAGCC 0.328 13 37 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123239396 123239396 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:123239396C>T uc003ieh.2 + 61 10810 c.10765C>T c.(10765-10767)CGT>TGT p.R3589C KIAA1109_uc003iel.1_Missense_Mutation_p.R1524C NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 3589 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 AAGAGATGTTCGTAAAAAATT 0.373 15 44 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123245614 123245614 + Silent SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:123245614T>C uc003ieh.2 + 62 10872 c.10827T>C c.(10825-10827)AGT>AGC p.S3609S KIAA1109_uc003iel.1_Silent_p.S1544S|KIAA1109_uc003iem.2_5'UTR NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 3609 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 GGGGTTTGAGTTACAAACCAA 0.378 11 29 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123260373 123260373 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:123260373C>T uc003ieh.2 + 70 12207 c.12162C>T c.(12160-12162)ATC>ATT p.I4054I KIAA1109_uc003iem.2_Silent_p.I410I|KIAA1109_uc003ien.2_5'UTR NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 4054 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 CCTCACAGATCAAATTTAGCT 0.338 23 32 --- --- --- --- PASS ADAD1 132612 broad.mit.edu 37 4 123350819 123350819 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:123350819G>A uc003ieo.2 + 13 1888 c.1656G>A c.(1654-1656)TTG>TTA p.L552L ADAD1_uc003iep.2_Silent_p.L541L|ADAD1_uc003ieq.2_Silent_p.L534L NM_139243 NP_640336 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 552 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding 0 AATGTAAGTTGAAATCCTACT 0.348 31 57 --- --- --- --- PASS NUDT6 11162 broad.mit.edu 37 4 123838769 123838769 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:123838769G>A uc003iew.2 - 2 361 c.329C>T c.(328-330)TCC>TTC p.S110F NUDT6_uc003iex.2_5'UTR NM_007083 NP_009014 P53370 NUDT6_HUMAN nudix-type motif 6 isoform a 110 mitochondrion|nucleus growth factor activity|hydrolase activity 0 GAAGCCCAGGGAAGCAGCAGG 0.507 19 39 --- --- --- --- PASS NUDT6 11162 broad.mit.edu 37 4 123843641 123843641 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:123843641G>A uc003iew.2 - 1 119 c.87C>T c.(85-87)GCC>GCT p.A29A SPATA5_uc003iey.2_5'Flank|SPATA5_uc003iez.3_5'Flank|NUDT6_uc003iex.2_Intron NM_007083 NP_009014 P53370 NUDT6_HUMAN nudix-type motif 6 isoform a 29 mitochondrion|nucleus growth factor activity|hydrolase activity 0 GTGCGCCCGAGGCCCAGCGGT 0.711 6 6 --- --- --- --- PASS ANKRD50 57182 broad.mit.edu 37 4 125592852 125592852 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:125592852G>A uc003ifg.3 - 3 1846 c.1580C>T c.(1579-1581)TCC>TTC p.S527F ANKRD50_uc011cgo.1_Missense_Mutation_p.S348F|ANKRD50_uc010inw.2_Missense_Mutation_p.S527F NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 527 ANK 2. central_nervous_system(1) 1 TGTCCGAATGGAATCCTCTCT 0.418 26 53 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126237972 126237972 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:126237972C>T uc003ifj.3 + 1 406 c.406C>T c.(406-408)CCG>TCG p.P136S NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 136 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CCCCGTTTTCCCGGACCCCTC 0.602 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 19 --- --- --- --- PASS PLK4 10733 broad.mit.edu 37 4 128812736 128812736 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:128812736C>T uc003ifo.2 + 9 2183 c.1938C>T c.(1936-1938)ATC>ATT p.I646I PLK4_uc011cgs.1_Silent_p.I614I|PLK4_uc011cgt.1_Silent_p.I605I NM_014264 NP_055079 O00444 PLK4_HUMAN polo-like kinase 4 646 G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 TTTGGCAGATCACTATTTATT 0.333 24 26 --- --- --- --- PASS MFSD8 256471 broad.mit.edu 37 4 128854224 128854224 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:128854224G>A uc003ifp.2 - 9 942 c.779C>T c.(778-780)CCC>CTC p.P260L MFSD8_uc011cgu.1_Missense_Mutation_p.P215L|MFSD8_uc011cgv.1_Missense_Mutation_p.P222L|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_Missense_Mutation_p.P167S NM_152778 NP_689991 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 260 Cytoplasmic (Potential). cell death|transmembrane transport integral to membrane|lysosomal membrane ovary(1)|liver(1) 2 ATTTCCTTGGGGAACCTGAGC 0.328 19 79 --- --- --- --- PASS MFSD8 256471 broad.mit.edu 37 4 128854225 128854225 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:128854225G>A uc003ifp.2 - 9 941 c.778C>T c.(778-780)CCC>TCC p.P260S MFSD8_uc011cgu.1_Missense_Mutation_p.P215S|MFSD8_uc011cgv.1_Missense_Mutation_p.P222S|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_Silent_p.F166F NM_152778 NP_689991 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 260 Cytoplasmic (Potential). cell death|transmembrane transport integral to membrane|lysosomal membrane ovary(1)|liver(1) 2 TTTCCTTGGGGAACCTGAGCT 0.328 19 79 --- --- --- --- PASS PCDH18 54510 broad.mit.edu 37 4 138442614 138442614 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:138442614C>T uc003ihe.3 - 4 3364 c.2977G>A c.(2977-2979)GAT>AAT p.D993N PCDH18_uc003ihf.3_Missense_Mutation_p.D985N|PCDH18_uc011cgz.1_Missense_Mutation_p.D204N|PCDH18_uc003ihg.3_Missense_Mutation_p.D772N|PCDH18_uc011cha.1_Missense_Mutation_p.D173N NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 993 Interaction with DAB1 (By similarity).|Cytoplasmic (Potential). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) GTGTCCTCATCGTTTGGGGAG 0.512 17 43 --- --- --- --- PASS C4orf49 84709 broad.mit.edu 37 4 140187956 140187956 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:140187956C>T uc003ihr.1 - 4 700 c.520G>A c.(520-522)GAA>AAA p.E174K NM_032623 NP_116012 Q8TDB4 CD049_HUMAN ovary-specific acidic protein 174 integral to membrane central_nervous_system(1)|skin(1) 2 GGGGTTGTTTCAGGGTTTACT 0.512 35 40 --- --- --- --- PASS HHIP 64399 broad.mit.edu 37 4 145629326 145629326 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:145629326C>T uc003ijs.1 + 7 1819 c.1164C>T c.(1162-1164)TTC>TTT p.F388F NM_022475 NP_071920 Q96QV1 HHIP_HUMAN hedgehog-interacting protein precursor 388 Interaction with SHH zinc binding site. cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) TCAGTGATTTCACAGGCTCAG 0.423 20 43 --- --- --- --- PASS ZNF827 152485 broad.mit.edu 37 4 146823941 146823941 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:146823941G>A uc003ikn.2 - 2 518 c.470C>T c.(469-471)TCC>TTC p.S157F ZNF827_uc003ikm.2_Missense_Mutation_p.S157F|ZNF827_uc010iox.2_Intron NM_178835 NP_849157 Q17R98 ZN827_HUMAN zinc finger protein 827 157 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(180;0.151) GGAAGGCGGGGAAAAGGAGAG 0.567 20 32 --- --- --- --- PASS EDNRA 1909 broad.mit.edu 37 4 148441068 148441068 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:148441068C>T uc003iky.2 + 3 1178 c.486C>T c.(484-486)CCC>CCT p.P162P EDNRA_uc011cid.1_5'UTR|EDNRA_uc010ipe.1_Intron|EDNRA_uc010ipf.1_RNA|EDNRA_uc010ipg.1_Intron NM_001957 NP_001948 P25101 EDNRA_HUMAN endothelin receptor type A isoform a precursor 162 Helical; Name=3; (Potential). activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity ovary(1)|breast(1) 2 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) AGCTGTTCCCCTTTTTGCAGA 0.502 49 76 --- --- --- --- PASS SH3D19 152503 broad.mit.edu 37 4 152069115 152069115 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:152069115G>A uc010ipl.1 - 11 2291 c.1201C>T c.(1201-1203)CCT>TCT p.P401S SH3D19_uc003imb.2_Missense_Mutation_p.P179S|SH3D19_uc003imc.2_Missense_Mutation_p.P365S|SH3D19_uc003ime.2_Missense_Mutation_p.P401S|SH3D19_uc010ipm.2_Missense_Mutation_p.P401S NM_001009555 NP_001009555 Q5HYK7 SH319_HUMAN SH3 domain containing 19 isoform a 401 cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport cytosol|Golgi apparatus|nucleus|plasma membrane proline-rich region binding ovary(1)|skin(1) 2 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) TTGGGACGAGGGGGTAGCACC 0.398 23 47 --- --- --- --- PASS FBXW7 55294 broad.mit.edu 37 4 153271243 153271243 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:153271243G>A uc003ims.2 - 3 684 c.535C>T c.(535-537)CGC>TGC p.R179C FBXW7_uc011cii.1_Missense_Mutation_p.R179C|FBXW7_uc003imt.2_Missense_Mutation_p.R179C|FBXW7_uc011cih.1_5'Flank|FBXW7_uc003imq.2_Missense_Mutation_p.R99C|FBXW7_uc003imr.2_Missense_Mutation_p.R61C NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 179 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) GAAAAAGAGCGGACCTCAGAA 0.308 Mis|N|D|F colorectal|endometrial|T-ALL 4 8 --- --- --- --- PASS TIGD4 201798 broad.mit.edu 37 4 153692076 153692076 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:153692076G>A uc003imy.2 - 2 863 c.81C>T c.(79-81)ATC>ATT p.I27I NM_145720 NP_663772 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 27 HTH psq-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding ovary(1) 1 all_hematologic(180;0.093) TTATGATGTCGATCTTTTCCT 0.383 25 41 --- --- --- --- PASS FHDC1 85462 broad.mit.edu 37 4 153864526 153864526 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:153864526C>T uc003inf.2 + 1 392 c.317C>T c.(316-318)CCG>CTG p.P106L NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 106 FH2. actin cytoskeleton organization actin binding large_intestine(1)|ovary(1) 2 all_hematologic(180;0.093) AAAACTATTCCGGAGGAGCAA 0.502 61 170 --- --- --- --- PASS TRIM2 23321 broad.mit.edu 37 4 154237038 154237038 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:154237038C>T uc003ing.2 + 8 1789 c.1588C>T c.(1588-1590)CCG>TCG p.P530S TRIM2_uc003inh.2_Missense_Mutation_p.P557S NM_001130067 NP_001123539 Q9C040 TRIM2_HUMAN tripartite motif-containing 2 isoform 2 530 NHL 2. cytoplasm zinc ion binding central_nervous_system(1) 1 all_hematologic(180;0.093) Medulloblastoma(177;0.00225) GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703) GGGACGCTCTCCGGGGCAGCT 0.463 9 61 --- --- --- --- PASS TLR2 7097 broad.mit.edu 37 4 154625881 154625881 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:154625881C>T uc003inq.2 + 3 2041 c.1822C>T c.(1822-1824)CTG>TTG p.L608L TLR2_uc003inr.2_Silent_p.L608L|TLR2_uc003ins.2_Silent_p.L608L NM_003264 NP_003255 O60603 TLR2_HUMAN toll-like receptor 2 precursor 608 Helical; (Potential). cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding ovary(1)|lung(1)|breast(1) 3 all_hematologic(180;0.093) Renal(120;0.117) CACGGGGGTCCTGTGCCACCG 0.572 17 15 --- --- --- --- PASS DCHS2 54798 broad.mit.edu 37 4 155156464 155156464 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:155156464G>A uc003inw.2 - 25 7975 c.7975C>T c.(7975-7977)CCC>TCC p.P2659S NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2659 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TTTCTGTAGGGATGCTCATTT 0.512 24 40 --- --- --- --- PASS DCHS2 54798 broad.mit.edu 37 4 155243554 155243554 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:155243554A>T uc003inw.2 - 13 2740 c.2740T>A c.(2740-2742)TAC>AAC p.Y914N NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 914 Cadherin 7. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CTCATTCTGTAGGAAGGTCTA 0.398 12 40 --- --- --- --- PASS DCHS2 54798 broad.mit.edu 37 4 155278421 155278421 + Silent SNP C T T rs149265546 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:155278421C>T uc003inw.2 - 6 750 c.750G>A c.(748-750)AAG>AAA p.K250K DCHS2_uc003inx.2_Intron NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 250 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) tcattacttccttgtctgctg 0.000 32 97 --- --- --- --- PASS PLRG1 5356 broad.mit.edu 37 4 155460272 155460272 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:155460272A>G uc003iny.2 - 12 1199 c.1136T>C c.(1135-1137)GTT>GCT p.V379A PLRG1_uc003inz.2_Missense_Mutation_p.V370A NM_002669 NP_002660 O43660 PLRG1_HUMAN pleiotropic regulator 1 (PRL1 homolog, 379 WD 5. catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity 0 all_hematologic(180;0.215) Renal(120;0.0854) TGGATGTAAAACCACAGCCCT 0.358 24 46 --- --- --- --- PASS FGB 2244 broad.mit.edu 37 4 155489637 155489637 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:155489637G>A uc003ioa.3 + 5 862 c.823G>A c.(823-825)GAA>AAA p.E275K FGB_uc003iob.3_Missense_Mutation_p.E272K|FGB_uc010ipv.2_Missense_Mutation_p.E213K|FGB_uc010ipw.2_Missense_Mutation_p.E272K|FGB_uc003ioc.3_Missense_Mutation_p.E56K NM_005141 NP_005132 P02675 FIBB_HUMAN fibrinogen, beta chain preproprotein 275 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) CATGAATACAGAAAATGGAGG 0.333 14 24 --- --- --- --- PASS FGA 2243 broad.mit.edu 37 4 155506702 155506702 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:155506702G>A uc003iod.1 - 5 1937 c.1879C>T c.(1879-1881)CGC>TGC p.R627C FGA_uc003ioe.1_Missense_Mutation_p.R627C|FGA_uc003iof.1_3'UTR NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 627 By similarity.|Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) ctgaCAGGGCGAGATTTAGCA 0.259 19 46 --- --- --- --- PASS TDO2 6999 broad.mit.edu 37 4 156824933 156824933 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:156824933G>A uc003ipf.1 + 1 87 c.23G>A c.(22-24)GGA>GAA p.G8E NM_005651 NP_005642 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 8 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity 0 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) CCATTTTTAGGAAACAACTTT 0.408 20 33 --- --- --- --- PASS CTSO 1519 broad.mit.edu 37 4 156849538 156849538 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:156849538G>A uc003ipg.2 - 7 930 c.881C>T c.(880-882)TCT>TTT p.S294F NM_001334 NP_001325 P43234 CATO_HUMAN cathepsin O preproprotein 294 proteolysis lysosome cysteine-type endopeptidase activity 0 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148) TACTCCCCAAGAACTTCCCCA 0.348 24 31 --- --- --- --- PASS GRIA2 2891 broad.mit.edu 37 4 158224874 158224874 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:158224874G>A uc003ipm.3 + 3 859 c.400G>A c.(400-402)GGA>AGA p.G134R GRIA2_uc011cit.1_Missense_Mutation_p.G87R|GRIA2_uc003ipl.3_Missense_Mutation_p.G134R|GRIA2_uc003ipk.3_Missense_Mutation_p.G87R|GRIA2_uc010iqh.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 134 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) CGACCTCAAAGGAGCTCTCCT 0.448 34 105 --- --- --- --- PASS GRIA2 2891 broad.mit.edu 37 4 158281079 158281079 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:158281079G>A uc003ipm.3 + 13 2534 c.2075G>A c.(2074-2076)TGG>TAG p.W692* GRIA2_uc011cit.1_Nonsense_Mutation_p.W645*|GRIA2_uc003ipl.3_Nonsense_Mutation_p.W692*|GRIA2_uc003ipk.3_Nonsense_Mutation_p.W645*|GRIA2_uc010iqh.1_RNA|GRIA2_uc011ciu.1_Nonsense_Mutation_p.W2*|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_Nonsense_Mutation_p.W2*|GRIA2_uc011ciy.1_Nonsense_Mutation_p.W2*|GRIA2_uc011ciz.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 692 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) GATAAAATGTGGACCTACATG 0.458 20 20 --- --- --- --- PASS FNIP2 57600 broad.mit.edu 37 4 159790431 159790431 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:159790431C>T uc003iqe.3 + 13 2826 c.2643C>T c.(2641-2643)TTC>TTT p.F881F NM_020840 NP_065891 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 881 Interaction with PRKAA1. DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding 0 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) AGGCCAACTTCAGGACTGAAG 0.597 11 14 --- --- --- --- PASS RAPGEF2 9693 broad.mit.edu 37 4 160277247 160277247 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:160277247C>T uc003iqg.3 + 23 4721 c.4411C>T c.(4411-4413)CCG>TCG p.P1471S NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 1471 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) GTGGCATAAACCGAACGAGTC 0.552 7 23 --- --- --- --- PASS RAPGEF2 9693 broad.mit.edu 37 4 160277248 160277248 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:160277248C>T uc003iqg.3 + 23 4722 c.4412C>T c.(4411-4413)CCG>CTG p.P1471L NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 1471 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) TGGCATAAACCGAACGAGTCT 0.552 6 24 --- --- --- --- PASS FSTL5 56884 broad.mit.edu 37 4 162697122 162697122 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:162697122C>T uc003iqh.2 - 5 950 c.514G>A c.(514-516)GAC>AAC p.D172N FSTL5_uc003iqi.2_Missense_Mutation_p.D171N|FSTL5_uc010iqv.2_Missense_Mutation_p.D171N NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 172 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CGAGATATGTCGTCGCCATTA 0.303 23 47 --- --- --- --- PASS NPY5R 4889 broad.mit.edu 37 4 164272282 164272282 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:164272282G>A uc003iqn.2 + 4 1039 c.857G>A c.(856-858)AGA>AAA p.R286K NM_006174 NP_006165 Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 286 Cytoplasmic (Potential). cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane lung(6)|skin(1) 7 all_hematologic(180;0.166) Prostate(90;0.109) AAAAAACACAGAAGAAGATAT 0.413 19 74 --- --- --- --- PASS MARCH1 55016 broad.mit.edu 37 4 164506934 164506934 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:164506934G>A uc003iqs.1 - 6 1367 c.390C>T c.(388-390)TTC>TTT p.F130F MARCH1_uc003iqr.1_Silent_p.F113F NM_017923 NP_060393 Q8TCQ1 MARH1_HUMAN membrane-associated RING-CH protein I 130 RING-CH-type. antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding lung(2) 2 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TCTCCATTATGAAGTCATACT 0.493 17 60 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 4 165980744 165980744 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:165980744C>T uc011cjl.1 + 1 445 c.445C>T c.(445-447)CAG>TAG p.Q149* NM_001105575 NP_001099045 tripartite motif-containing 75 CAGTTACATCCAGCCCCTGAA 0.478 25 67 --- --- --- --- PASS NEK1 4750 broad.mit.edu 37 4 170506580 170506580 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:170506580G>A uc003isb.1 - 9 1219 c.727C>T c.(727-729)CCT>TCT p.P243S NEK1_uc003isc.1_Missense_Mutation_p.P243S|NEK1_uc003isd.1_Missense_Mutation_p.P243S|NEK1_uc003ise.1_Missense_Mutation_p.P243S|NEK1_uc003isf.1_Missense_Mutation_p.P243S|NEK1_uc003isg.1_Missense_Mutation_p.P164S NM_012224 NP_036356 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 243 Protein kinase. cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(3)|ovary(2)|large_intestine(1) 6 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) CTATCCCTAGGATTTCTTTTA 0.373 16 46 --- --- --- --- PASS GLRA3 8001 broad.mit.edu 37 4 175749928 175749928 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:175749928G>A uc003ity.1 - 1 538 c.35C>T c.(34-36)TCG>TTG p.S12L GLRA3_uc003itz.1_Missense_Mutation_p.S12L|uc003iua.1_5'Flank|uc003iub.1_5'Flank NM_006529 NP_006520 O75311 GLRA3_HUMAN glycine receptor, alpha 3 isoform a 12 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(3) 3 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) GTAAAATCCCGAAACTAATGT 0.458 18 50 --- --- --- --- PASS ADAM29 11086 broad.mit.edu 37 4 175898683 175898683 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:175898683G>A uc003iuc.2 + 5 2677 c.2007G>A c.(2005-2007)AAG>AAA p.K669K ADAM29_uc003iud.2_Silent_p.K669K|ADAM29_uc010irr.2_Silent_p.K669K|ADAM29_uc011cki.1_Silent_p.K669K NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 669 Poly-Lys.|Extracellular (Potential). proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) CACCCCCTAAGAGAAAGAAGA 0.368 13 38 --- --- --- --- PASS GPM6A 2823 broad.mit.edu 37 4 176561960 176561960 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:176561960C>T uc003iuf.2 - 5 1366 c.562G>A c.(562-564)GAA>AAA p.E188K GPM6A_uc011ckj.1_Missense_Mutation_p.E181K|GPM6A_uc003iug.2_Missense_Mutation_p.E188K|GPM6A_uc003iuh.2_Missense_Mutation_p.E177K NM_201591 NP_963885 P51674 GPM6A_HUMAN glycoprotein M6A isoform 2 188 Extracellular (Potential). cell surface|integral to membrane 0 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) ATTTTCTTTTCCTCTCCAATT 0.338 5 14 --- --- --- --- PASS WDR17 116966 broad.mit.edu 37 4 177061074 177061074 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:177061074G>A uc003iuj.2 + 11 1619 c.1463G>A c.(1462-1464)TGG>TAG p.W488* WDR17_uc003iuk.2_Nonsense_Mutation_p.W464*|WDR17_uc003ium.3_Nonsense_Mutation_p.W464*|WDR17_uc003iul.1_Intron NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 488 WD 8. ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TGCATTGCCTGGAGTCATAAA 0.308 42 72 --- --- --- --- PASS WDR17 116966 broad.mit.edu 37 4 177073061 177073061 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:177073061C>T uc003iuj.2 + 18 2631 c.2475C>T c.(2473-2475)ATC>ATT p.I825I WDR17_uc003iuk.2_Silent_p.I801I|WDR17_uc003ium.3_Silent_p.I801I|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Silent_p.I44I NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 825 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) CTGCTGAAATCCACTTGAGAT 0.378 24 40 --- --- --- --- PASS ASB5 140458 broad.mit.edu 37 4 177138125 177138125 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:177138125G>A uc003iuq.1 - 6 722 c.706C>T c.(706-708)CCA>TCA p.P236S ASB5_uc003iup.1_Missense_Mutation_p.P183S NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box-containing protein 236 ANK 6. intracellular signal transduction skin(2) 2 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) GCATGTAATGGAGTATCCCAA 0.353 33 85 --- --- --- --- PASS ODZ3 55714 broad.mit.edu 37 4 183713580 183713580 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:183713580G>A uc003ivd.1 + 25 5792 c.5755G>A c.(5755-5757)GAA>AAA p.E1919K NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1919 Extracellular (Potential).|YD 8. signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CAACCCCCCGGAAAGCAACGC 0.537 18 70 --- --- --- --- PASS STOX2 56977 broad.mit.edu 37 4 184932261 184932261 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:184932261C>T uc003ivz.1 + 3 3705 c.2270C>T c.(2269-2271)TCC>TTC p.S757F STOX2_uc003iwa.1_Missense_Mutation_p.S446F NM_020225 NP_064610 Q9P2F5 STOX2_HUMAN storkhead box 2 757 embryo development|maternal placenta development 0 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) ATGCCTGCTTCCCAGCGTCAG 0.552 10 8 --- --- --- --- PASS HELT 391723 broad.mit.edu 37 4 185941590 185941590 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:185941590G>A uc011ckq.1 + 4 648 c.648G>A c.(646-648)GAG>GAA p.E216E HELT_uc011cko.1_Silent_p.E131E|HELT_uc003ixa.3_Silent_p.E130E|HELT_uc011ckp.1_Silent_p.E74E NM_001029887 NP_001025058 A6NFD8 HELT_HUMAN HES/HEY-like transcription factor 216 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) TGGGCGCGGAGCCCGCCTTTC 0.677 5 25 --- --- --- --- PASS SNX25 83891 broad.mit.edu 37 4 186209226 186209226 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:186209226G>A uc003ixh.2 + 6 849 c.660G>A c.(658-660)AAG>AAA p.K220K NM_031953 NP_114159 Q9H3E2 SNX25_HUMAN sorting nexin 25 220 cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity ovary(2)|breast(2)|pancreas(1) 5 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) CCCAACTGAAGAGGCACAAAG 0.413 28 37 --- --- --- --- PASS SORBS2 8470 broad.mit.edu 37 4 186536046 186536046 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:186536046C>T uc003iyl.2 - 17 3680 c.2822G>A c.(2821-2823)GGA>GAA p.G941E SORBS2_uc003iyh.2_Missense_Mutation_p.G665E|SORBS2_uc011ckw.1_Missense_Mutation_p.G502E|SORBS2_uc003iyi.2_Missense_Mutation_p.G572E|SORBS2_uc011ckx.1_Missense_Mutation_p.G507E|SORBS2_uc003iyk.2_Missense_Mutation_p.G485E|SORBS2_uc003iym.2_Missense_Mutation_p.G1041E|SORBS2_uc003iyn.1_Missense_Mutation_p.G532E|SORBS2_uc011cku.1_Missense_Mutation_p.G333E|SORBS2_uc011ckv.1_Missense_Mutation_p.G845E|SORBS2_uc003iyd.2_Missense_Mutation_p.G640E|SORBS2_uc003iye.2_Missense_Mutation_p.G514E|SORBS2_uc003iya.2_Missense_Mutation_p.G461E|SORBS2_uc003iyb.2_Missense_Mutation_p.G414E|SORBS2_uc003iyc.2_Missense_Mutation_p.G394E|SORBS2_uc003iyg.2_Missense_Mutation_p.G1055E|SORBS2_uc003iyf.2_Missense_Mutation_p.G477E|SORBS2_uc003iyo.1_Missense_Mutation_p.G390E NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 941 SH3 2. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) TATAGCTTCTCCGATTTCTCC 0.423 9 29 --- --- --- --- PASS KLKB1 3818 broad.mit.edu 37 4 187159513 187159513 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:187159513G>A uc003iyy.2 + 6 663 c.592G>A c.(592-594)GAA>AAA p.E198K KLKB1_uc011clc.1_5'UTR|KLKB1_uc011cld.1_Missense_Mutation_p.E160K NM_000892 NP_000883 P03952 KLKB1_HUMAN plasma kallikrein B1 precursor 198 blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity ovary(1) 1 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) TGCCCTTTCAGAAATTGGTAA 0.299 15 40 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187584747 187584747 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:187584747G>A uc003izf.2 - 3 3474 c.3286C>T c.(3286-3288)CGA>TGA p.R1096* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1096 Extracellular (Potential).|Cadherin 9. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CGGTCCAGTCGATCTGACGTC 0.463 HNSCC(5;0.00058) 7 28 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187629604 187629604 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:187629604G>A uc003izf.2 - 2 1566 c.1378C>T c.(1378-1380)CCC>TCC p.P460S FAT1_uc010iso.1_Missense_Mutation_p.P460S NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 460 Extracellular (Potential).|Cadherin 3. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 AATTCAGGGGGATTGCTATTT 0.473 HNSCC(5;0.00058) 77 112 --- --- --- --- PASS TRIML1 339976 broad.mit.edu 37 4 189061083 189061083 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:189061083G>A uc003izm.1 + 1 486 c.371G>A c.(370-372)AGA>AAA p.R124K NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 124 multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GGTGCAAACAGAGTGCATCTC 0.592 11 39 --- --- --- --- PASS SLC12A7 10723 broad.mit.edu 37 5 1087030 1087030 + Silent SNP G A A rs148809420 by1000genomes TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:1087030G>A uc003jbu.2 - 6 729 c.663C>T c.(661-663)ATC>ATT p.I221I NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride 221 Helical; (Potential). potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) GAAAAATCTCGATGGTCCCCA 0.587 16 48 --- --- --- --- PASS SLC12A7 10723 broad.mit.edu 37 5 1093770 1093770 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:1093770C>T uc003jbu.2 - 3 286 c.220G>A c.(220-222)GAG>AAG p.E74K NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride 74 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) TCCATCTCCTCCTGCGCGGCG 0.682 5 7 --- --- --- --- PASS SLC6A19 340024 broad.mit.edu 37 5 1208984 1208984 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:1208984C>T uc003jbw.3 + 2 382 c.326C>T c.(325-327)CCG>CTG p.P109L NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN solute carrier family 6, member 19 109 Cytoplasmic (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TCCATCCACCCGGCCCTGAAG 0.701 7 13 --- --- --- --- PASS SLC6A3 6531 broad.mit.edu 37 5 1422015 1422015 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:1422015C>T uc003jck.2 - 5 889 c.768G>A c.(766-768)TGG>TGA p.W256* NM_001044 NP_001035 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter 256 Helical; Name=4; (Potential). cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body ovary(3)|breast(2)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) TCACGCCCTTCCAGAGGCTGA 0.637 15 56 --- --- --- --- PASS ADAMTS16 170690 broad.mit.edu 37 5 5242288 5242288 + Silent SNP C T T rs35767796 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:5242288C>T uc003jdl.2 + 17 2784 c.2646C>T c.(2644-2646)TCC>TCT p.S882S ADAMTS16_uc003jdk.1_Silent_p.S882S NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 882 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CTGAGTGCTCCGTGTCCTGCG 0.622 7 22 --- --- --- --- PASS KIAA0947 23379 broad.mit.edu 37 5 5463364 5463364 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:5463364G>T uc003jdm.3 + 13 4139 c.3917G>T c.(3916-3918)CGG>CTG p.R1306L NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 1306 ovary(1)|central_nervous_system(1) 2 AGTCCATTTCGGGAAACGACT 0.438 4 17 --- --- --- --- PASS ADCY2 108 broad.mit.edu 37 5 7804718 7804718 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:7804718C>T uc003jdz.1 + 22 2863 c.2796C>T c.(2794-2796)TTC>TTT p.F932F ADCY2_uc011cmo.1_Silent_p.F752F|ADCY2_uc010itm.1_Silent_p.F128F NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 932 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 AGCCAAAATTCAGTGGAGTTG 0.483 17 20 --- --- --- --- PASS SEMA5A 9037 broad.mit.edu 37 5 9190533 9190533 + Silent SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:9190533C>A uc003jek.2 - 11 1831 c.1119G>T c.(1117-1119)CTG>CTT p.L373L NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 373 Sema.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 GAGCATCCTGCAGATTTCTCT 0.577 10 20 --- --- --- --- PASS MARCH6 10299 broad.mit.edu 37 5 10426588 10426588 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:10426588C>T uc003jet.1 + 24 2643 c.2460C>T c.(2458-2460)TCC>TCT p.S820S MARCH6_uc011cmu.1_Silent_p.S772S|MARCH6_uc003jeu.1_Silent_p.S518S|MARCH6_uc011cmv.1_Silent_p.S715S NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 820 Helical; (Potential). protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 TGTTGCTTTCCCTGTGTGTAC 0.433 25 58 --- --- --- --- PASS CTNND2 1501 broad.mit.edu 37 5 11022941 11022941 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:11022941G>A uc003jfa.1 - 17 3084 c.2939C>T c.(2938-2940)GCC>GTC p.A980V CTNND2_uc010itt.2_Missense_Mutation_p.A889V|CTNND2_uc011cmy.1_Missense_Mutation_p.A643V|CTNND2_uc011cmz.1_Missense_Mutation_p.A547V|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.A572V NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 980 ARM 9. A -> G (in Ref. 8; AAB97957). multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 ATCCCGTAAGGCCTTGGCGTT 0.507 14 43 --- --- --- --- PASS CTNND2 1501 broad.mit.edu 37 5 11082931 11082931 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:11082931G>A uc003jfa.1 - 16 2810 c.2665C>T c.(2665-2667)CGA>TGA p.R889* CTNND2_uc010itt.2_Nonsense_Mutation_p.R798*|CTNND2_uc011cmy.1_Nonsense_Mutation_p.R552*|CTNND2_uc011cmz.1_Nonsense_Mutation_p.R456*|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Nonsense_Mutation_p.R481* NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 889 ARM 8. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 TTCTCTTTTCGGACAGCGGCT 0.537 8 21 --- --- --- --- PASS CTNND2 1501 broad.mit.edu 37 5 11411723 11411723 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:11411723C>T uc003jfa.1 - 5 509 c.364G>A c.(364-366)GAG>AAG p.E122K CTNND2_uc010itt.2_Missense_Mutation_p.E31K|CTNND2_uc011cmy.1_Missense_Mutation_p.E31K|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 122 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 TCCACCAGCTCGAGACCTGTT 0.373 7 26 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13737373 13737373 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:13737373C>T uc003jfd.2 - 66 11485 c.11443G>A c.(11443-11445)GAA>AAA p.E3815K DNAH5_uc003jfc.2_Intron NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3815 Potential. 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) GGTCTGTATTCCTCCCGGGCT 0.428 Kartagener_syndrome 12 34 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13752308 13752308 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:13752308C>T uc003jfd.2 - 64 11005 c.10963G>A c.(10963-10965)GAA>AAA p.E3655K DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3655 AAA 5 (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) GGATCTAGTTCCTCTCCAACA 0.398 Kartagener_syndrome 12 62 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13820578 13820578 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:13820578G>T uc003jfd.2 - 41 6760 c.6718C>A c.(6718-6720)CCT>ACT p.P2240T NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2240 AAA 2 (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) AGTTTCCAAGGAGGATGGTTG 0.418 Kartagener_syndrome 13 25 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13911603 13911603 + Splice_Site SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:13911603C>T uc003jfd.2 - 12 1579 c.1537_splice c.e12-1 p.G513_splice DNAH5_uc003jfe.1_Intron NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 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) CCACAATGCCCTGAAATATTA 0.313 Kartagener_syndrome 10 29 --- --- --- --- PASS TRIO 7204 broad.mit.edu 37 5 14286983 14286983 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:14286983G>A uc003jff.2 + 4 357 c.351G>A c.(349-351)GAG>GAA p.E117E TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.E68E NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 117 CRAL-TRIO. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) TCTGCAGCGAGGAGGTCTGCA 0.582 6 26 --- --- --- --- PASS TRIO 7204 broad.mit.edu 37 5 14498737 14498737 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:14498737C>T uc003jff.2 + 53 8326 c.8320C>T c.(8320-8322)CTG>TTG p.L2774L TRIO_uc003jfg.2_RNA NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 2774 Ig-like C2-type. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) GTCGGCCAGCCTGAGGGTCCT 0.567 12 62 --- --- --- --- PASS MARCH11 441061 broad.mit.edu 37 5 16177920 16177920 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:16177920C>T uc003jfo.2 - 2 821 c.608G>A c.(607-609)TGG>TAG p.W203* uc003jfp.2_5'Flank NM_001102562 NP_001096032 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 203 RING-CH-type. cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding 0 CTCACTGATCCATTTTAGCAG 0.433 21 58 --- --- --- --- PASS ZNF622 90441 broad.mit.edu 37 5 16463280 16463280 + Missense_Mutation SNP C G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:16463280C>G uc003jfq.2 - 3 1106 c.986G>C c.(985-987)AGC>ACC p.S329T NM_033414 NP_219482 Q969S3 ZN622_HUMAN zinc finger protein 622 329 cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(1) 1 CTTACAGTGGCTTTTGTCATT 0.423 6 149 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24487843 24487843 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:24487843G>A uc003jgr.1 - 12 2628 c.2296C>T c.(2296-2298)CGA>TGA p.R766* CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 766 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) CCCCATTCTCGGAGGTAATCG 0.413 HNSCC(23;0.051) 34 62 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24488000 24488000 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:24488000G>A uc003jgr.1 - 12 2471 c.2139C>T c.(2137-2139)TTC>TTT p.F713F CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 713 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) TTTCATTAATGAAATCCCGGA 0.458 HNSCC(23;0.051) 9 39 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24511541 24511541 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:24511541C>T uc003jgr.1 - 6 1229 c.897G>A c.(895-897)GGG>GGA p.G299G CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 299 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) CAGCATTTTTCCCAGTGTCAG 0.423 HNSCC(23;0.051) 22 47 --- --- --- --- PASS CDH9 1007 broad.mit.edu 37 5 26886136 26886136 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:26886136G>A uc003jgs.1 - 10 1738 c.1569C>T c.(1567-1569)TTC>TTT p.F523F CDH9_uc011cnv.1_Silent_p.F116F NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 523 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 GTTCAAAAAAGAATTTGTGAC 0.313 16 55 --- --- --- --- PASS CDH9 1007 broad.mit.edu 37 5 26915832 26915832 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:26915832C>T uc003jgs.1 - 3 598 c.429G>A c.(427-429)TCG>TCA p.S143S CDH9_uc010iug.2_Silent_p.S143S NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 143 Extracellular (Potential).|Cadherin 1. 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 TGATAAATTCCGATTCCGGTT 0.398 24 81 --- --- --- --- PASS CDH9 1007 broad.mit.edu 37 5 26988258 26988258 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:26988258G>A uc003jgs.1 - 2 352 c.183C>T c.(181-183)TTC>TTT p.F61F CDH9_uc010iug.2_Silent_p.F61F NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 61 Extracellular (Potential).|Cadherin 1. 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 CTTCCAATAAGAAGAACTGAT 0.378 7 16 --- --- --- --- PASS RNASEN 29102 broad.mit.edu 37 5 31526644 31526644 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:31526644G>A uc003jhg.2 - 4 755 c.396C>T c.(394-396)GTC>GTT p.V132V RNASEN_uc003jhh.2_Silent_p.V132V|RNASEN_uc003jhi.2_Silent_p.V132V|RNASEN_uc010iui.1_Silent_p.V123V NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 132 Pro-rich. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity 0 GTGCCCCAGGGACTGGGGGGT 0.607 10 13 --- --- --- --- PASS C5orf23 79614 broad.mit.edu 37 5 32789682 32789682 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:32789682C>T uc003jhw.1 + 1 738 c.175C>T c.(175-177)CTT>TTT p.L59F NM_024563 NP_078839 hypothetical protein LOC79614 0 TCTCCTTTCTCTTAAATTCAA 0.398 8 37 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33576467 33576467 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:33576467G>A uc003jia.1 - 19 3827 c.3664C>T c.(3664-3666)CCC>TCC p.P1222S ADAMTS12_uc010iuq.1_Missense_Mutation_p.P1137S NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1222 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 CTTTGGCTGGGGAGCAGTCCT 0.552 HNSCC(64;0.19) 26 49 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33649739 33649739 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:33649739G>A uc003jia.1 - 8 1417 c.1254C>T c.(1252-1254)ATC>ATT p.I418I ADAMTS12_uc010iuq.1_Silent_p.I418I NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 418 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GGCGGGACATGATGTACGGAT 0.547 HNSCC(64;0.19) 27 34 --- --- --- --- PASS AGXT2 64902 broad.mit.edu 37 5 35025919 35025919 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:35025919C>T uc003jjf.2 - 9 991 c.912G>A c.(910-912)AAG>AAA p.K304K AGXT2_uc003jje.1_5'UTR|AGXT2_uc011com.1_Silent_p.K304K NM_031900 NP_114106 Q9BYV1 AGT2_HUMAN alanine-glyoxylate aminotransferase 2 precursor 304 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(3)|skin(1) 4 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) CAAAGGCTTCCTTTAGAAACC 0.483 10 34 --- --- --- --- PASS SPEF2 79925 broad.mit.edu 37 5 35641538 35641538 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:35641538C>T uc003jjo.2 + 3 278 c.167C>T c.(166-168)TCA>TTA p.S56L SPEF2_uc003jjn.1_Missense_Mutation_p.S56L|SPEF2_uc003jjq.3_Missense_Mutation_p.S56L NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 56 CH. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCCAGGGTTTCAAGTGCCAAA 0.333 16 30 --- --- --- --- PASS SPEF2 79925 broad.mit.edu 37 5 35644570 35644570 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:35644570G>T uc003jjo.2 + 4 639 c.528G>T c.(526-528)GAG>GAT p.E176D SPEF2_uc003jjn.1_Missense_Mutation_p.E176D|SPEF2_uc003jjq.3_Missense_Mutation_p.E176D NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 176 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity p.E176G(1) skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGCATTTTGAGAAACTTGAAA 0.313 6 19 --- --- --- --- PASS SPEF2 79925 broad.mit.edu 37 5 35704730 35704730 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:35704730G>A uc003jjo.2 + 17 2584 c.2473G>A c.(2473-2475)GGA>AGA p.G825R SPEF2_uc003jjq.3_Missense_Mutation_p.G820R|SPEF2_uc003jjp.1_Missense_Mutation_p.G311R NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 825 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGATAAGGATGGAGACCAAAA 0.318 14 44 --- --- --- --- PASS SPEF2 79925 broad.mit.edu 37 5 35705851 35705851 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:35705851C>T uc003jjo.2 + 18 2717 c.2606C>T c.(2605-2607)TCT>TTT p.S869F SPEF2_uc003jjq.3_Missense_Mutation_p.S864F|SPEF2_uc003jjp.1_Missense_Mutation_p.S355F NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 869 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GATAAGGAATCTTTATGTGAA 0.284 3 19 --- --- --- --- PASS SPEF2 79925 broad.mit.edu 37 5 35806982 35806982 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:35806982C>T uc003jjo.2 + 35 5295 c.5184C>T c.(5182-5184)TTC>TTT p.F1728F SPEF2_uc003jjp.1_Silent_p.F1214F|SPEF2_uc003jjr.2_Silent_p.F783F NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 1728 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCAAAGTGTTCAAAGGGGGAA 0.378 15 32 --- --- --- --- PASS C5orf42 65250 broad.mit.edu 37 5 37125368 37125368 + Missense_Mutation SNP G A A rs113008648 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:37125368G>A uc011cpa.1 - 46 9005 c.8774C>T c.(8773-8775)CCT>CTT p.P2925L C5orf42_uc003jkp.1_Intron|C5orf42_uc011coy.1_Missense_Mutation_p.P1443L|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.P2018L NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 2925 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) GGGACAGAAAGGATCATGTTC 0.373 24 80 --- --- --- --- PASS OSMR 9180 broad.mit.edu 37 5 38881757 38881757 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:38881757C>T uc003jln.1 + 4 676 c.309C>T c.(307-309)CTC>CTT p.L103L OSMR_uc003jlm.1_Silent_p.L103L NM_003999 NP_003990 Q99650 OSMR_HUMAN oncostatin M receptor precursor 103 Extracellular (Potential). cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_lung(31;0.000365) AATCTGAGCTCCCTTTGGAAT 0.473 17 33 --- --- --- --- PASS OSMR 9180 broad.mit.edu 37 5 38933461 38933461 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:38933461C>T uc003jln.1 + 18 3222 c.2855C>T c.(2854-2856)TCC>TTC p.S952F OSMR_uc011cpj.1_Missense_Mutation_p.S156F NM_003999 NP_003990 Q99650 OSMR_HUMAN oncostatin M receptor precursor 952 Cytoplasmic (Potential). cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_lung(31;0.000365) ATGGCAGTCTCCCTGCGTCTT 0.507 23 57 --- --- --- --- PASS FYB 2533 broad.mit.edu 37 5 39202038 39202038 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:39202038G>A uc003jls.2 - 1 1092 c.1025C>T c.(1024-1026)CCG>CTG p.P342L FYB_uc003jlt.2_Missense_Mutation_p.P342L|FYB_uc003jlu.2_Missense_Mutation_p.P342L|FYB_uc011cpl.1_Missense_Mutation_p.P352L NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 342 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) CTTCTGTTTCGGGGTGGCTGA 0.532 12 39 --- --- --- --- PASS FYB 2533 broad.mit.edu 37 5 39202362 39202362 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:39202362T>A uc003jls.2 - 1 768 c.701A>T c.(700-702)AAA>ATA p.K234I FYB_uc003jlt.2_Missense_Mutation_p.K234I|FYB_uc003jlu.2_Missense_Mutation_p.K234I|FYB_uc011cpl.1_Missense_Mutation_p.K244I NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 234 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) AGGGCCGCTTTTGGACCTGAC 0.502 31 79 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41004483 41004483 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:41004483C>T uc003jmj.3 - 37 4649 c.4159G>A c.(4159-4161)GAA>AAA p.E1387K HEATR7B2_uc003jmi.3_Missense_Mutation_p.E942K NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1387 HEAT 15. binding ovary(6)|central_nervous_system(2) 8 AGCACTATTTCCTTGAAGTAG 0.458 34 84 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41009458 41009458 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:41009458C>T uc003jmj.3 - 32 3834 c.3344G>A c.(3343-3345)GGG>GAG p.G1115E HEATR7B2_uc003jmi.3_Missense_Mutation_p.G670E NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1115 HEAT 12. binding ovary(6)|central_nervous_system(2) 8 CAAGAGTTTCCCACTGGAGGC 0.507 12 60 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41032873 41032873 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:41032873C>T uc003jmj.3 - 24 2902 c.2412G>A c.(2410-2412)TGG>TGA p.W804* HEATR7B2_uc003jmi.3_Nonsense_Mutation_p.W359* NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 804 HEAT 9. binding ovary(6)|central_nervous_system(2) 8 TTAAGGCTTTCCACCGAATAG 0.388 11 20 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41057416 41057416 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:41057416A>G uc003jmj.3 - 8 1293 c.803T>C c.(802-804)CTT>CCT p.L268P HEATR7B2_uc003jmi.3_Intron NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 268 binding ovary(6)|central_nervous_system(2) 8 GCTCCTTGGAAGGCCAATGTC 0.438 9 14 --- --- --- --- PASS C6 729 broad.mit.edu 37 5 41149419 41149419 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:41149419C>T uc003jmk.2 - 17 2757 c.2547G>A c.(2545-2547)AGG>AGA p.R849R C6_uc003jml.1_Silent_p.R849R NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 849 C5b-binding domain. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) AAAGTCTTGTCCTTTCAAGAC 0.418 39 81 --- --- --- --- PASS NNT 23530 broad.mit.edu 37 5 43650627 43650627 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:43650627C>T uc003joe.2 + 12 1910 c.1655C>T c.(1654-1656)CCT>CTT p.P552L NNT_uc003jof.2_Missense_Mutation_p.P552L NM_012343 NP_036475 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 552 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding ovary(2)|central_nervous_system(1) 3 Lung NSC(6;2.58e-06) NADH(DB00157) CATTTGTATCCTTCCACAACT 0.438 10 28 --- --- --- --- PASS FGF10 2255 broad.mit.edu 37 5 44310604 44310604 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:44310604G>A uc003jog.1 - 2 354 c.354C>T c.(352-354)ATC>ATT p.I118I NM_004465 NP_004456 O15520 FGF10_HUMAN fibroblast growth factor 10 precursor 118 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding lung(3) 3 Lung NSC(6;1.12e-06) CAACAACTCCGATTTCTACTG 0.333 7 13 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45267354 45267354 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:45267354C>T uc003jok.2 - 7 1645 c.1620G>A c.(1618-1620)GAG>GAA p.E540E NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 540 cAMP.|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 GCAGGCAAATCTCTATAAAAA 0.398 26 30 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45353276 45353276 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:45353276A>G uc003jok.2 - 5 1328 c.1303T>C c.(1303-1305)TAT>CAT p.Y435H NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 435 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CTGTGTTCATAGTAATCATGT 0.343 9 22 --- --- --- --- PASS SNX18 112574 broad.mit.edu 37 5 53815435 53815435 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:53815435G>A uc003jpj.3 + 1 1843 c.1653G>A c.(1651-1653)TGG>TGA p.W551* SNX18_uc011cqg.1_Nonsense_Mutation_p.W551*|SNX18_uc003jpi.3_Intron NM_052870 NP_443102 Q96RF0 SNX18_HUMAN sorting nexin 18 isoform b 551 BAR. cell communication|endocytosis|positive regulation of GTPase activity|protein transport endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane phosphatidylinositol binding|protein binding 0 Lung NSC(810;3.46e-05)|Breast(144;0.102) AGGTGATATGGAGTGTATTGT 0.512 12 52 --- --- --- --- PASS CDC20B 166979 broad.mit.edu 37 5 54415739 54415739 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:54415739G>A uc003jpo.1 - 11 1524 c.1349C>T c.(1348-1350)TCC>TTC p.S450F CDC20B_uc003jpn.1_Missense_Mutation_p.S450F|CDC20B_uc010ivu.1_Missense_Mutation_p.S408F NM_152623 NP_689836 Q86Y33 CD20B_HUMAN CDC20 cell division cycle 20 homolog B isoform 450 WD 6. 0 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) CCAGATTAAGGAACAAATCTG 0.403 12 48 --- --- --- --- PASS SLC38A9 153129 broad.mit.edu 37 5 54929713 54929713 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:54929713G>A uc003jqf.2 - 14 1500 c.1299C>T c.(1297-1299)TTC>TTT p.F433F SLC38A9_uc003jqd.2_Silent_p.F370F|SLC38A9_uc010ivx.2_Silent_p.F370F|SLC38A9_uc003jqe.2_Intron|SLC38A9_uc010ivy.2_Silent_p.F304F NM_173514 NP_775785 Q8NBW4 S38A9_HUMAN solute carrier family 38, member 9 433 amino acid transport|sodium ion transport integral to membrane 0 Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181) CACTGCTAGGGAAGTTGTCTA 0.388 16 16 --- --- --- --- PASS GAPT 202309 broad.mit.edu 37 5 57790524 57790524 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:57790524G>A uc003jro.1 + 3 555 c.161G>A c.(160-162)AGA>AAA p.R54K NM_152687 NP_689900 Q8N292 GAPT_HUMAN GRB2-binding adaptor protein, transmembrane 54 B cell activation integral to membrane|plasma membrane 0 AGCAGCAGGAGAAAAGTCTGT 0.458 13 23 --- --- --- --- PASS PDE4D 5144 broad.mit.edu 37 5 58270781 58270781 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:58270781G>A uc003jsa.2 - 15 2312 c.2140C>T c.(2140-2142)CAG>TAG p.Q714* PDE4D_uc003jrx.2_Nonsense_Mutation_p.Q578*|PDE4D_uc003jry.2_Nonsense_Mutation_p.Q412*|PDE4D_uc003jrz.2_Nonsense_Mutation_p.Q650*|PDE4D_uc003jsb.2_Nonsense_Mutation_p.Q653*|PDE4D_uc003jrt.2_Nonsense_Mutation_p.Q412*|PDE4D_uc003jru.2_Nonsense_Mutation_p.Q490*|PDE4D_uc003jrv.2_Nonsense_Mutation_p.Q584*|PDE4D_uc003jrw.2_Nonsense_Mutation_p.Q592*|PDE4D_uc003jrs.2_Nonsense_Mutation_p.Q423* NM_001104631 NP_001098101 Q08499 PDE4D_HUMAN phosphodiesterase 4D isoform 1 714 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1) 2 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) GAGGGGCTCTGAGGGATTGTG 0.537 22 32 --- --- --- --- PASS IPO11 51194 broad.mit.edu 37 5 61783631 61783631 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:61783631C>T uc003jtc.2 + 13 1442 c.1252C>T c.(1252-1254)CAT>TAT p.H418Y IPO11_uc011cqr.1_Missense_Mutation_p.H458Y|IPO11_uc003jtb.1_Missense_Mutation_p.H418Y NM_016338 NP_057422 Q9UI26 IPO11_HUMAN Ran binding protein 11 isoform 2 418 cytoplasm|nucleus protein binding lung(2)|skin(2) 4 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) AGATATATTCCATGAATATAA 0.299 7 29 --- --- --- --- PASS HTR1A 3350 broad.mit.edu 37 5 63257364 63257364 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:63257364G>A uc011cqt.1 - 1 183 c.183C>T c.(181-183)ATC>ATT p.I61I NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 61 Helical; Name=1; (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GCTCCAAGGCGATGGCAGCCA 0.617 12 12 --- --- --- --- PASS RGS7BP 401190 broad.mit.edu 37 5 63905037 63905037 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:63905037G>A uc003jtj.2 + 6 732 c.732G>A c.(730-732)CGG>CGA p.R244R RGS7BP_uc011cqu.1_Silent_p.R111R NM_001029875 NP_001025046 Q6MZT1 R7BP_HUMAN regulator of G-protein signaling 7 binding 244 Nuclear localization signal (By similarity). negative regulation of signal transduction cytoplasm|nucleus|plasma membrane 0 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) TGAGAAGACGGAAGAGAAGGT 0.473 19 29 --- --- --- --- PASS CWC27 10283 broad.mit.edu 37 5 64082381 64082381 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:64082381C>T uc003jtn.1 + 6 745 c.526C>T c.(526-528)CCA>TCA p.P176S CWC27_uc003jtl.2_Missense_Mutation_p.P176S|CWC27_uc003jtm.2_Missense_Mutation_p.P176S|CWC27_uc010iwt.1_Missense_Mutation_p.P176S NM_005869 NP_005860 Q6UX04 CWC27_HUMAN serologically defined colon cancer antigen 10 176 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity 0 TGACATCATTCCAAGGGAAAT 0.308 11 12 --- --- --- --- PASS ADAMTS6 11174 broad.mit.edu 37 5 64769451 64769451 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:64769451G>A uc003jtp.2 - 2 864 c.50C>T c.(49-51)GCT>GTT p.A17V ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_5'UTR NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 17 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) TTCCGATGAAGCCATGATGAG 0.368 39 107 --- --- --- --- PASS MAST4 375449 broad.mit.edu 37 5 66396421 66396421 + Splice_Site SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:66396421G>A uc003jut.1 + 7 571 c.503_splice c.e7+1 p.S168_splice MAST4_uc003jus.2_Splice_Site_p.S168_splice|MAST4_uc003juu.1_Splice_Site_p.S178_splice|MAST4_uc011cra.1_Splice_Site_p.S151_splice|MAST4_uc010ixa.2_Splice_Site|MAST4_uc003juv.2_Splice_Site_p.S163_splice|MAST4_uc003juw.2_Splice_Site_p.S163_splice NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GAAGTCTGAGGTGTGTGGGCC 0.453 12 26 --- --- --- --- PASS MAST4 375449 broad.mit.edu 37 5 66462794 66462794 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:66462794C>T uc003jut.1 + 28 7288 c.7220C>T c.(7219-7221)TCT>TTT p.S2407F MAST4_uc003juw.2_Missense_Mutation_p.S2335F|MAST4_uc003jux.2_Missense_Mutation_p.S160F NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 2599 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) CGCCCCATCTCTCTTTCTAAT 0.597 6 13 --- --- --- --- PASS CENPH 64946 broad.mit.edu 37 5 68498782 68498782 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:68498782A>G uc003jvp.2 + 7 559 c.472A>G c.(472-474)AGA>GGA p.R158G CENPH_uc010ixc.2_Missense_Mutation_p.R139G NM_022909 NP_075060 Q9H3R5 CENPH_HUMAN centromere protein H 158 Potential. cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm kinetochore binding|protein binding large_intestine(1) 1 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178) GCTTGATATTAGAAAGAAGAG 0.313 3 16 --- --- --- --- PASS MAP1B 4131 broad.mit.edu 37 5 71494703 71494703 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:71494703A>T uc003kbw.3 + 5 5762 c.5521A>T c.(5521-5523)ATG>TTG p.M1841L MAP1B_uc010iyw.1_Missense_Mutation_p.M1858L|MAP1B_uc010iyx.1_Missense_Mutation_p.M1715L|MAP1B_uc010iyy.1_Missense_Mutation_p.M1715L NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1841 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) ATTCGATACAATGCAACACCA 0.483 9 38 --- --- --- --- PASS RGNEF 64283 broad.mit.edu 37 5 73069772 73069772 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:73069772C>T uc011csq.1 + 4 579 c.568C>T c.(568-570)CAG>TAG p.Q190* RGNEF_uc003kcx.2_Nonsense_Mutation_p.Q190*|RGNEF_uc003kcy.1_Nonsense_Mutation_p.Q190*|RGNEF_uc010izf.2_Nonsense_Mutation_p.Q190* NM_001080479 NP_001073948 Q8N1W1 RGNEF_HUMAN Rho-guanine nucleotide exchange factor 190 cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction cytoplasm|plasma membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding 0 Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.25e-51) GGGGGGAGTCCAGGCCTTGGC 0.502 3 12 --- --- --- --- PASS ENC1 8507 broad.mit.edu 37 5 73932188 73932188 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:73932188C>T uc003kdc.3 - 2 1254 c.123G>A c.(121-123)CAG>CAA p.Q41Q ENC1_uc011css.1_Splice_Site NM_003633 NP_003624 O14682 ENC1_HUMAN ectodermal-neural cortex (with BTB-like domain) 41 nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding ovary(1)|pancreas(1)|skin(1) 3 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) AGAGACGCTGCTGGCGTAAAA 0.557 9 33 --- --- --- --- PASS IQGAP2 10788 broad.mit.edu 37 5 75964510 75964510 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:75964510A>G uc003kek.2 + 23 2906 c.2684A>G c.(2683-2685)AAC>AGC p.N895S IQGAP2_uc010izv.2_Missense_Mutation_p.N448S|IQGAP2_uc011csv.1_Missense_Mutation_p.N391S|IQGAP2_uc003kel.2_Missense_Mutation_p.N391S NM_006633 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 895 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity ovary(6)|central_nervous_system(1) 7 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) TTCTAGACCAACCCTTTATAC 0.323 8 14 --- --- --- --- PASS CRHBP 1393 broad.mit.edu 37 5 76264654 76264654 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:76264654G>A uc003ker.2 + 7 1193 c.913G>A c.(913-915)GAG>AAG p.E305K NM_001882 NP_001873 P24387 CRHBP_HUMAN corticotropin releasing hormone binding protein 305 female pregnancy|learning or memory|signal transduction soluble fraction 0 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) GGAGCCGTACGAGCTGGAAAA 0.453 17 29 --- --- --- --- PASS CMYA5 202333 broad.mit.edu 37 5 79029528 79029528 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:79029528G>A uc003kgc.2 + 2 5012 c.4940G>A c.(4939-4941)AGA>AAA p.R1647K NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1647 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GATTTAGGTAGACAAAGTGGA 0.433 15 66 --- --- --- --- PASS CMYA5 202333 broad.mit.edu 37 5 79029588 79029588 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:79029588C>T uc003kgc.2 + 2 5072 c.5000C>T c.(4999-5001)TCT>TTT p.S1667F NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1667 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) ACAGAGGATTCTGTTTTAGAA 0.403 11 53 --- --- --- --- PASS CMYA5 202333 broad.mit.edu 37 5 79029791 79029791 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:79029791G>A uc003kgc.2 + 2 5275 c.5203G>A c.(5203-5205)GGA>AGA p.G1735R NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1735 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TGTAGCTGAAGGAGGCAACCC 0.418 8 56 --- --- --- --- PASS CMYA5 202333 broad.mit.edu 37 5 79034258 79034258 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:79034258C>T uc003kgc.2 + 2 9742 c.9670C>T c.(9670-9672)CCC>TCC p.P3224S NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 3224 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GGCATCATTTCCCAGCAGAAA 0.378 12 28 --- --- --- --- PASS SPZ1 84654 broad.mit.edu 37 5 79616862 79616862 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:79616862A>T uc003kgn.2 + 1 1073 c.828A>T c.(826-828)AAA>AAT p.K276N uc011ctk.1_RNA NM_032567 NP_115956 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 276 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(1) 1 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) AATCTCAGAAAGACATAAGTG 0.408 27 48 --- --- --- --- PASS SPZ1 84654 broad.mit.edu 37 5 79616863 79616863 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:79616863G>A uc003kgn.2 + 1 1074 c.829G>A c.(829-831)GAC>AAC p.D277N uc011ctk.1_RNA NM_032567 NP_115956 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 277 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(1) 1 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) ATCTCAGAAAGACATAAGTGA 0.408 27 48 --- --- --- --- PASS RASGRF2 5924 broad.mit.edu 37 5 80476040 80476040 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:80476040G>A uc003kha.1 + 18 2733 c.2733G>A c.(2731-2733)CGG>CGA p.R911R RASGRF2_uc011ctn.1_RNA NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 911 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TTATTATACGGAGAACGGCTA 0.443 48 69 --- --- --- --- PASS VCAN 1462 broad.mit.edu 37 5 82815510 82815510 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:82815510G>A uc003kii.3 + 7 1741 c.1385G>A c.(1384-1386)AGT>AAT p.S462N VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.S462N|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 462 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GTGCTCCAGAGTACAACTGGC 0.433 15 53 --- --- --- --- PASS VCAN 1462 broad.mit.edu 37 5 82837997 82837997 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:82837997C>T uc003kii.3 + 8 9531 c.9175C>T c.(9175-9177)CCA>TCA p.P3059S VCAN_uc003kij.3_Missense_Mutation_p.P2072S|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.P1723S NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 3059 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TGCAACACCACCATTTTCCCT 0.428 20 51 --- --- --- --- PASS MEF2C 4208 broad.mit.edu 37 5 88018477 88018477 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:88018477C>T uc003kjj.2 - 11 2039 c.1366G>A c.(1366-1368)GAA>AAA p.E456K MEF2C_uc003kji.2_Missense_Mutation_p.E448K|MEF2C_uc003kjk.2_Missense_Mutation_p.E456K|MEF2C_uc003kjm.2_Missense_Mutation_p.E446K|MEF2C_uc003kjl.2_Missense_Mutation_p.E466K NM_002397 NP_002388 Q06413 MEF2C_HUMAN myocyte enhancer factor 2C isoform 1 456 apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic 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 nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(3)|breast(2)|ovary(1)|large_intestine(1) 7 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) CTTTCCCTTTCGTCCGGCGAA 0.498 HNSCC(66;0.2) 26 116 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 89971257 89971257 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:89971257T>C uc003kju.2 + 24 5404 c.5308T>C c.(5308-5310)TAC>CAC p.Y1770H GPR98_uc003kjt.2_5'UTR|GPR98_uc010jba.1_RNA NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 1770 Extracellular (Potential).|Calx-beta 12. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCCTGAGGATTACCAGGTAAT 0.423 6 15 --- --- --- --- PASS FAM81B 153643 broad.mit.edu 37 5 94727108 94727108 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:94727108C>T uc003kla.1 + 1 61 c.15C>T c.(13-15)TTC>TTT p.F5F FAM81B_uc010jbe.1_5'Flank NM_152548 NP_689761 Q96LP2 FA81B_HUMAN hypothetical protein LOC153643 5 ovary(1)|skin(1) 2 all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473) all cancers(79;1.04e-16) AATTACAATTCCTTGGTACAT 0.378 29 54 --- --- --- --- PASS ERAP2 64167 broad.mit.edu 37 5 96215571 96215571 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:96215571G>A uc003kmq.2 + 2 892 c.182G>A c.(181-183)CGA>CAA p.R61Q uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.R61Q|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.R55Q|ERAP2_uc003kmu.2_RNA NM_022350 NP_071745 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 61 Lumenal (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding 0 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) AATGGGGAACGATTTCCTTGG 0.488 6 17 --- --- --- --- PASS SLCO6A1 133482 broad.mit.edu 37 5 101735366 101735366 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:101735366C>T uc003knn.2 - 10 1879 c.1707G>A c.(1705-1707)GGG>GGA p.G569G SLCO6A1_uc003kno.2_Silent_p.G316G|SLCO6A1_uc003knp.2_Silent_p.G569G|SLCO6A1_uc003knq.2_Silent_p.G507G NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 569 Extracellular (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) CATCACATTTCCCGGGTCTGG 0.368 13 50 --- --- --- --- PASS SLCO6A1 133482 broad.mit.edu 37 5 101748834 101748834 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:101748834C>T uc003knn.2 - 9 1658 c.1486G>A c.(1486-1488)GGA>AGA p.G496R SLCO6A1_uc003kno.2_Missense_Mutation_p.G243R|SLCO6A1_uc003knp.2_Missense_Mutation_p.G496R|SLCO6A1_uc003knq.2_Missense_Mutation_p.G434R NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 496 Extracellular (Potential).|Kazal-like. integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) GTGAGGTTTCCCAACTTCCCT 0.318 4 34 --- --- --- --- PASS SLC25A46 91137 broad.mit.edu 37 5 110096975 110096975 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:110096975G>A uc003koz.2 + 8 817 c.750G>A c.(748-750)ATG>ATA p.M250I SLC25A46_uc011cvi.1_Missense_Mutation_p.M159I NM_138773 NP_620128 Q96AG3 S2546_HUMAN solute carrier family 25, member 46 250 transport integral to membrane|mitochondrial inner membrane 0 all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156) OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211) TGATAGGCATGGGAGTGCCTC 0.383 12 78 --- --- --- --- PASS SLC25A46 91137 broad.mit.edu 37 5 110096976 110096976 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:110096976G>A uc003koz.2 + 8 818 c.751G>A c.(751-753)GGA>AGA p.G251R SLC25A46_uc011cvi.1_Missense_Mutation_p.G160R NM_138773 NP_620128 Q96AG3 S2546_HUMAN solute carrier family 25, member 46 251 transport integral to membrane|mitochondrial inner membrane 0 all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156) OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211) GATAGGCATGGGAGTGCCTCA 0.383 11 78 --- --- --- --- PASS WDR36 134430 broad.mit.edu 37 5 110428113 110428113 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:110428113C>T uc003kpd.2 + 1 244 c.127C>T c.(127-129)CCT>TCT p.P43S WDR36_uc010jbu.2_RNA NM_139281 NP_644810 Q8NI36 WDR36_HUMAN WD repeat domain 36 43 response to stimulus|rRNA processing|visual perception small-subunit processome ovary(1)|skin(1) 2 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) TACGTGTTTTCCTTCAGGACC 0.627 12 28 --- --- --- --- PASS EPB41L4A 64097 broad.mit.edu 37 5 111504718 111504718 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:111504718C>T uc003kpv.1 - 21 2098 c.1824G>A c.(1822-1824)GGG>GGA p.G608G EPB41L4A_uc003kpp.1_Silent_p.G235G|EPB41L4A_uc003kpu.1_RNA NM_022140 NP_071423 Q9HCS5 E41LA_HUMAN erythrocyte protein band 4.1-like 4 608 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) CTGATCGCTCCCCATCTGAAC 0.453 18 51 --- --- --- --- PASS EPB41L4A 64097 broad.mit.edu 37 5 111598199 111598199 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:111598199G>A uc003kpv.1 - 7 908 c.634C>T c.(634-636)CCC>TCC p.P212S NM_022140 NP_071423 Q9HCS5 E41LA_HUMAN erythrocyte protein band 4.1-like 4 212 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) ACATAGACGGGATGGAGGTCA 0.423 36 44 --- --- --- --- PASS KCNN2 3781 broad.mit.edu 37 5 113798813 113798813 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:113798813C>T uc003kqo.2 + 4 1526 c.1069C>T c.(1069-1071)CTC>TTC p.L357F KCNN2_uc003kqp.2_Missense_Mutation_p.L9F|KCNN2_uc010jcg.2_RNA|uc003kqq.1_Intron NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 357 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) AATAACTTTTCTCTCCATTGG 0.383 42 57 --- --- --- --- PASS KCNN2 3781 broad.mit.edu 37 5 113822850 113822850 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:113822850G>A uc003kqo.2 + 6 1815 c.1358G>A c.(1357-1359)CGA>CAA p.R453Q KCNN2_uc003kqp.2_Missense_Mutation_p.R105Q|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 453 Calmodulin-binding (By similarity). integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) AAACATCAACGAAAATTCCTG 0.323 21 30 --- --- --- --- PASS TRIM36 55521 broad.mit.edu 37 5 114499374 114499374 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:114499374G>A uc003kqs.2 - 2 648 c.139C>T c.(139-141)CCT>TCT p.P47S TRIM36_uc011cwc.1_Missense_Mutation_p.P35S|TRIM36_uc003kqt.2_Intron NM_018700 NP_061170 Q9NQ86 TRI36_HUMAN tripartite motif-containing 36 isoform 1 47 RING-type; degenerate. acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding ovary(4)|lung(2)|breast(2) 8 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) TGTTGGCAAGGGAGAATCAAT 0.418 12 38 --- --- --- --- PASS SEMA6A 57556 broad.mit.edu 37 5 115824669 115824669 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:115824669G>A uc010jck.2 - 8 1279 c.570C>T c.(568-570)TTC>TTT p.F190F SEMA6A_uc003krx.3_Silent_p.F190F NM_020796 NP_065847 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and 190 Sema.|Extracellular (Potential). apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity ovary(2) 2 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) CAATGGCAAGGAAGTCAGTCA 0.453 3 0 --- --- --- --- PASS DMXL1 1657 broad.mit.edu 37 5 118513065 118513065 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:118513065A>G uc003ksd.2 + 27 6953 c.6772A>G c.(6772-6774)AAT>GAT p.N2258D DMXL1_uc010jcl.1_Missense_Mutation_p.N2258D NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 2258 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) ATTTCAGACGAATCAGTTTAC 0.294 7 19 --- --- --- --- PASS DMXL1 1657 broad.mit.edu 37 5 118533536 118533536 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:118533536C>T uc003ksd.2 + 32 7811 c.7630C>T c.(7630-7632)CAT>TAT p.H2544Y DMXL1_uc010jcl.1_Missense_Mutation_p.H2544Y NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 2544 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) ACTTGAAATCCATGGTGGGCC 0.448 17 64 --- --- --- --- PASS TNFAIP8 25816 broad.mit.edu 37 5 118728999 118728999 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:118728999C>T uc003ksh.2 + 3 1208 c.520C>T c.(520-522)CCT>TCT p.P174S TNFAIP8_uc003ksf.1_3'UTR|TNFAIP8_uc003ksg.2_Missense_Mutation_p.P164S|TNFAIP8_uc011cwf.1_Missense_Mutation_p.P168S|TNFAIP8_uc003ksi.2_Missense_Mutation_p.P174S NM_014350 NP_055165 O95379 TFIP8_HUMAN tumor necrosis factor, alpha-induced protein 8 174 anti-apoptosis|apoptosis|negative regulation of anti-apoptosis cytoplasm caspase inhibitor activity|protein binding ovary(1) 1 all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231) Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829) CTTGTATAATCCTTTTGGGAA 0.373 39 65 --- --- --- --- PASS PRR16 51334 broad.mit.edu 37 5 120022157 120022157 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:120022157G>A uc003ksq.2 + 2 831 c.668G>A c.(667-669)CGG>CAG p.R223Q PRR16_uc003ksp.2_Missense_Mutation_p.R200Q|PRR16_uc003ksr.2_Missense_Mutation_p.R153Q NM_016644 NP_057728 Q569H4 PRR16_HUMAN proline rich 16 223 Pro-rich. pancreas(2)|ovary(1) 3 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) TGTGATACCCGGTATAACATA 0.507 8 34 --- --- --- --- PASS FTMT 94033 broad.mit.edu 37 5 121187993 121187993 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:121187993C>T uc003kss.2 + 1 344 c.335C>T c.(334-336)TCC>TTC p.S112F NM_177478 NP_803431 Q8N4E7 FTMT_HUMAN ferritin mitochondrial precursor 112 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity ovary(1) 1 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) AACAACTTCTCCAGGTATTTC 0.582 10 14 --- --- --- --- PASS FTMT 94033 broad.mit.edu 37 5 121187994 121187994 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:121187994C>T uc003kss.2 + 1 345 c.336C>T c.(334-336)TCC>TCT p.S112S NM_177478 NP_803431 Q8N4E7 FTMT_HUMAN ferritin mitochondrial precursor 112 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity ovary(1) 1 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) ACAACTTCTCCAGGTATTTCC 0.577 10 14 --- --- --- --- PASS FTMT 94033 broad.mit.edu 37 5 121188068 121188068 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:121188068G>A uc003kss.2 + 1 419 c.410G>A c.(409-411)GGA>GAA p.G137E NM_177478 NP_803431 Q8N4E7 FTMT_HUMAN ferritin mitochondrial precursor 137 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity ovary(1) 1 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) AACCAGCGAGGAGGCCGGATC 0.582 7 25 --- --- --- --- PASS FTMT 94033 broad.mit.edu 37 5 121188234 121188234 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:121188234C>T uc003kss.2 + 1 585 c.576C>T c.(574-576)TTC>TTT p.F192F NM_177478 NP_803431 Q8N4E7 FTMT_HUMAN ferritin mitochondrial precursor 192 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity ovary(1) 1 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) TGTGCGATTTCCTGGAAACCT 0.512 40 65 --- --- --- --- PASS SRFBP1 153443 broad.mit.edu 37 5 121356383 121356383 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:121356383A>T uc003kst.1 + 6 1025 c.953A>T c.(952-954)GAT>GTT p.D318V NM_152546 NP_689759 Q8NEF9 SRFB1_HUMAN serum response factor binding protein 1 318 regulation of transcription, DNA-dependent|transcription, DNA-dependent perinuclear region of cytoplasm 0 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517) CTTAAAGAAGATACAGGTGAA 0.363 12 20 --- --- --- --- PASS ZNF474 133923 broad.mit.edu 37 5 121488583 121488583 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:121488583C>T uc003ksv.2 + 2 1274 c.898C>T c.(898-900)CTG>TTG p.L300L NM_207317 NP_997200 Q6S9Z5 ZN474_HUMAN zinc finger protein 474 300 intracellular zinc ion binding 0 all_cancers(142;0.229)|Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415) AGACCGCCTCCTGGTACACCA 0.463 11 30 --- --- --- --- PASS CEP120 153241 broad.mit.edu 37 5 122722273 122722273 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:122722273G>T uc003ktk.2 - 11 1601 c.1519C>A c.(1519-1521)CAG>AAG p.Q507K CEP120_uc011cwq.1_Missense_Mutation_p.Q316K|CEP120_uc010jcz.1_Missense_Mutation_p.Q481K NM_153223 NP_694955 Q8N960 CE120_HUMAN coiled-coil domain containing 100 507 centrosome ovary(1) 1 CAGTAAGACTGGGGAAGAAAA 0.353 4 35 --- --- --- --- PASS ZNF608 57507 broad.mit.edu 37 5 123974901 123974901 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:123974901G>A uc003ktq.1 - 8 4580 c.4457C>T c.(4456-4458)ACC>ATC p.T1486I ZNF608_uc003ktr.1_RNA|ZNF608_uc003ktp.1_Missense_Mutation_p.T181I NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1486 intracellular zinc ion binding skin(3)|ovary(2)|lung(1) 6 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GGCAGCAGAGGTCAAGCCTAA 0.473 8 8 --- --- --- --- PASS SLC12A2 6558 broad.mit.edu 37 5 127448533 127448533 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:127448533G>A uc003kus.2 + 2 948 c.784G>A c.(784-786)GGG>AGG p.G262R SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.G262R NM_001046 NP_001037 P55011 S12A2_HUMAN solute carrier family 12 262 Cytoplasmic (Potential). potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity ovary(3) 3 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) CTTTGCAAATGGGGAAGAAAG 0.348 22 35 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127648327 127648327 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:127648327G>A uc003kuu.2 - 37 5317 c.4878C>T c.(4876-4878)AGC>AGT p.S1626S NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1626 TB 6. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TGTACTTACTGCTATTGACAG 0.507 81 128 --- --- --- --- PASS ISOC1 51015 broad.mit.edu 37 5 128440726 128440726 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:128440726C>T uc003kva.2 + 2 405 c.387C>T c.(385-387)GCC>GCT p.A129A NM_016048 NP_057132 Q96CN7 ISOC1_HUMAN isochorismatase domain containing 1 129 peroxisome catalytic activity 0 all_cancers(142;0.0813)|Prostate(80;0.0865) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164) TCAGACCAGCCATCAAGTATT 0.378 24 53 --- --- --- --- PASS ADAMTS19 171019 broad.mit.edu 37 5 128844924 128844924 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:128844924G>A uc003kvb.1 + 3 884 c.884G>A c.(883-885)GGT>GAT p.G295D ADAMTS19_uc003kvc.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 295 Cysteine switch (By similarity). proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) CATTACTGTGGTATCATTTCA 0.388 10 42 --- --- --- --- PASS RAPGEF6 51735 broad.mit.edu 37 5 130828461 130828461 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:130828461G>A uc003kvn.1 - 14 1751 c.1545C>T c.(1543-1545)CTC>CTT p.L515L RAPGEF6_uc003kvp.1_Silent_p.L565L|RAPGEF6_uc003kvo.1_Silent_p.L515L|RAPGEF6_uc010jdi.1_Silent_p.L515L|RAPGEF6_uc010jdj.1_Silent_p.L515L|RAPGEF6_uc003kvq.2_Silent_p.L232L|RAPGEF6_uc003kvr.2_Silent_p.L515L|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Silent_p.L515L NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN PDZ domain-containing guanine nucleotide 515 N-terminal Ras-GEF. Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding ovary(1)|lung(1)|central_nervous_system(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) TCAATAACCGGAGATGACCAT 0.378 9 19 --- --- --- --- PASS IL4 3565 broad.mit.edu 37 5 132015469 132015469 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:132015469C>T uc003kxk.1 + 3 617 c.247C>T c.(247-249)CAT>TAT p.H83Y IL4_uc003kxl.1_Missense_Mutation_p.H67Y NM_000589 NP_000580 P05112 IL4_HUMAN interleukin 4 isoform 1 precursor 83 B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production extracellular space cytokine activity|growth factor activity|interleukin-4 receptor binding 0 all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GBM - Glioblastoma multiforme(465;0.00245) CTACAGCCACCATGAGAAGGA 0.562 19 55 --- --- --- --- PASS ANKRD43 134548 broad.mit.edu 37 5 132150955 132150955 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:132150955A>G uc003kxw.2 + 1 1923 c.1642A>G c.(1642-1644)ACA>GCA p.T548A NM_175873 NP_787069 Q2M3V2 ANR43_HUMAN ankyrin repeat domain 43 precursor 548 0 all_cancers(142;0.086)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTTTCCTCCAACAACCTGAAG 0.567 8 15 --- --- --- --- PASS TRPC7 57113 broad.mit.edu 37 5 135692782 135692782 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:135692782C>T uc003lbn.1 - 1 294 c.291G>A c.(289-291)CTG>CTA p.L97L TRPC7_uc010jef.1_Silent_p.L89L|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.L89L|TRPC7_uc010jei.1_Silent_p.L89L|TRPC7_uc010jej.1_5'UTR NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, 98 Cytoplasmic (Potential).|ANK 2. axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCTCCTTCTTCAGCAGCAGCT 0.617 21 27 --- --- --- --- PASS FAM53C 51307 broad.mit.edu 37 5 137682482 137682482 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:137682482C>T uc003lcv.2 + 5 1483 c.1013C>T c.(1012-1014)CCC>CTC p.P338L FAM53C_uc003lcw.2_Missense_Mutation_p.P338L|FAM53C_uc011cyq.1_RNA|FAM53C_uc011cyr.1_3'UTR NM_001135647 NP_001129119 Q9NYF3 FA53C_HUMAN hypothetical protein LOC51307 338 ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) AGCCCCCCACCCCTCTCTGCT 0.617 8 14 --- --- --- --- PASS TMEM173 340061 broad.mit.edu 37 5 138860758 138860758 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:138860758G>A uc003lep.2 - 4 648 c.397C>T c.(397-399)CTC>TTC p.L133F NM_198282 NP_938023 Q86WV6 TM173_HUMAN transmembrane protein 173 133 Helical; (Potential). activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane protein homodimerization activity|protein kinase binding|transcription factor binding upper_aerodigestive_tract(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AGGCCCAGGAGGATGTTCAGT 0.602 10 28 --- --- --- --- PASS TMEM173 340061 broad.mit.edu 37 5 138860759 138860759 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:138860759G>T uc003lep.2 - 4 647 c.396C>A c.(394-396)ATC>ATA p.I132I NM_198282 NP_938023 Q86WV6 TM173_HUMAN transmembrane protein 173 132 Helical; (Potential). activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane protein homodimerization activity|protein kinase binding|transcription factor binding upper_aerodigestive_tract(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GGCCCAGGAGGATGTTCAGTG 0.602 10 29 --- --- --- --- PASS SLC35A4 113829 broad.mit.edu 37 5 139946784 139946784 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:139946784C>T uc003lgg.1 + 3 758 c.30C>T c.(28-30)GGC>GGT p.G10G APBB3_uc003lgc.1_5'Flank|APBB3_uc003lgd.1_5'Flank|APBB3_uc003lge.1_5'Flank|APBB3_uc003lgf.1_5'Flank|APBB3_uc010jfp.1_5'Flank|APBB3_uc011czi.1_5'Flank|APBB3_uc010jfr.1_5'Flank|SLC35A4_uc003lgh.1_Silent_p.G10G NM_080670 NP_542401 Q96G79 S35A4_HUMAN solute carrier family 35, member A4 10 Golgi membrane|integral to membrane sugar:hydrogen symporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTATGCCAGGCCTGGGCCGTC 0.597 12 26 --- --- --- --- PASS SLC35A4 113829 broad.mit.edu 37 5 139946785 139946785 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:139946785C>T uc003lgg.1 + 3 759 c.31C>T c.(31-33)CTG>TTG p.L11L APBB3_uc003lgc.1_5'Flank|APBB3_uc003lgd.1_5'Flank|APBB3_uc003lge.1_5'Flank|APBB3_uc003lgf.1_5'Flank|APBB3_uc010jfp.1_5'Flank|APBB3_uc011czi.1_5'Flank|APBB3_uc010jfr.1_5'Flank|SLC35A4_uc003lgh.1_Silent_p.L11L NM_080670 NP_542401 Q96G79 S35A4_HUMAN solute carrier family 35, member A4 11 Golgi membrane|integral to membrane sugar:hydrogen symporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TATGCCAGGCCTGGGCCGTCC 0.597 11 26 --- --- --- --- PASS IK 3550 broad.mit.edu 37 5 140032629 140032629 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140032629C>T uc003lgq.2 + 5 414 c.304C>T c.(304-306)CGT>TGT p.R102C IK_uc011czk.1_Missense_Mutation_p.R102C NM_006083 NP_006074 Q13123 RED_HUMAN RED protein 102 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTACCGGGATCGTGCCAAGGA 0.483 8 52 --- --- --- --- PASS HARS2 23438 broad.mit.edu 37 5 140075750 140075750 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140075750C>T uc003lgx.2 + 7 912 c.696C>T c.(694-696)TTC>TTT p.F232F HARS2_uc010jfv.1_3'UTR|HARS2_uc011czr.1_Silent_p.F207F|HARS2_uc011czs.1_Silent_p.F88F|HARS2_uc011czt.1_Intron|HARS2_uc011czu.1_Intron NM_012208 NP_036340 P49590 SYHM_HUMAN histidyl-tRNA synthetase 2 precursor 232 histidyl-tRNA aminoacylation mitochondrial matrix ATP binding|histidine-tRNA ligase activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAGCAAGTTCCGTGCCATCT 0.468 8 51 --- --- --- --- PASS PCDHA1 56147 broad.mit.edu 37 5 140167249 140167249 + Silent SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140167249C>A uc003lhb.2 + 1 1374 c.1374C>A c.(1372-1374)CCC>CCA p.P458P PCDHA1_uc003lha.2_Silent_p.P458P|PCDHA1_uc003lgz.2_Silent_p.P458P NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 458 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGCGCAGCCCGAGTACACAG 0.682 4 62 --- --- --- --- PASS PCDHA1 56147 broad.mit.edu 37 5 140167790 140167790 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140167790G>A uc003lhb.2 + 1 1915 c.1915G>A c.(1915-1917)GAG>AAG p.E639K PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.E639K NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 639 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCCTGGACGAGGCTGACTT 0.647 14 46 --- --- --- --- PASS PCDHA2 56146 broad.mit.edu 37 5 140175978 140175978 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140175978G>A uc003lhd.2 + 1 1535 c.1429G>A c.(1429-1431)GTG>ATG p.V477M PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.V477M|PCDHA2_uc011czy.1_Missense_Mutation_p.V477M NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 477 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCTTCACGGTGTCAGCGTG 0.652 12 39 --- --- --- --- PASS PCDHA3 56145 broad.mit.edu 37 5 140180932 140180932 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140180932G>A uc003lhf.2 + 1 150 c.150G>A c.(148-150)CAG>CAA p.Q50Q PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.Q50Q NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 50 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCATCGCGCAGGACCTGGGGC 0.647 13 36 --- --- --- --- PASS PCDHA3 56145 broad.mit.edu 37 5 140181435 140181435 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140181435G>A uc003lhf.2 + 1 653 c.653G>A c.(652-654)GGG>GAG p.G218E PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.G218E NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 218 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTGATGGTGGGAAACCAGAG 0.388 18 25 --- --- --- --- PASS PCDHA3 56145 broad.mit.edu 37 5 140182175 140182175 + Missense_Mutation SNP A C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140182175A>C uc003lhf.2 + 1 1393 c.1393A>C c.(1393-1395)AAG>CAG p.K465Q PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.K465Q NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 465 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGTTCGTGAAGGAGAACAA 0.662 17 43 --- --- --- --- PASS PCDHA3 56145 broad.mit.edu 37 5 140182444 140182444 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140182444C>T uc003lhf.2 + 1 1662 c.1662C>T c.(1660-1662)TTC>TTT p.F554F PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.F554F NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 554 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAGGTGTTCGTGCTGGACG 0.687 45 54 --- --- --- --- PASS PCDHA3 56145 broad.mit.edu 37 5 140182609 140182609 + Nonsense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140182609T>A uc003lhf.2 + 1 1827 c.1827T>A c.(1825-1827)TAT>TAA p.Y609* PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Nonsense_Mutation_p.Y609* NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 609 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCTTTCGTATGAGCTGCAGC 0.677 25 28 --- --- --- --- PASS PCDHA4 56144 broad.mit.edu 37 5 140187398 140187398 + Missense_Mutation SNP T G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140187398T>G uc003lhi.2 + 1 727 c.626T>G c.(625-627)TTT>TGT p.F209C PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.F209C|PCDHA4_uc011daa.1_Missense_Mutation_p.F209C NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 209 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGGAGATTTTTTTAGTGCTC 0.453 21 32 --- --- --- --- PASS PCDHA4 56144 broad.mit.edu 37 5 140188168 140188168 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140188168G>A uc003lhi.2 + 1 1497 c.1396G>A c.(1396-1398)GAG>AAG p.E466K PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.E466K|PCDHA4_uc011daa.1_Missense_Mutation_p.E466K NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 466 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTCGTGAAGGAGAACAACCC 0.642 8 31 --- --- --- --- PASS PCDHA4 56144 broad.mit.edu 37 5 140188245 140188245 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140188245C>T uc003lhi.2 + 1 1574 c.1473C>T c.(1471-1473)TCC>TCT p.S491S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.S491S|PCDHA4_uc011daa.1_Silent_p.S491S NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 491 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCTGGTGTCCTACTCGCTGG 0.657 6 27 --- --- --- --- PASS PCDHA4 56144 broad.mit.edu 37 5 140188728 140188728 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140188728G>A uc003lhi.2 + 1 2057 c.1956G>A c.(1954-1956)AAG>AAA p.K652K PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.K652K|PCDHA4_uc011daa.1_Silent_p.K652K NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 652 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TACTGGTGAAGGACCACGGCG 0.677 13 55 --- --- --- --- PASS PCDHA6 56142 broad.mit.edu 37 5 140207721 140207721 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140207721C>T uc003lho.2 + 1 72 c.45C>T c.(43-45)CTC>CTT p.L15L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.L15L|PCDHA6_uc011dab.1_Silent_p.L15L NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 15 homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATGTCTGCTCCTCCCGCTTC 0.532 27 57 --- --- --- --- PASS PCDHA6 56142 broad.mit.edu 37 5 140209114 140209114 + Missense_Mutation SNP C G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140209114C>G uc003lho.2 + 1 1465 c.1438C>G c.(1438-1440)CGA>GGA p.R480G PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.R480G|PCDHA6_uc011dab.1_Missense_Mutation_p.R480G NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 480 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGTCTGCGCGAGACGCGGA 0.647 9 34 --- --- --- --- PASS PCDHA7 56141 broad.mit.edu 37 5 140214048 140214048 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140214048G>A uc003lhq.2 + 1 80 c.80G>A c.(79-81)GGG>GAG p.G27E PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.G27E NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 27 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGAGGCAGGGAGAGGCCAG 0.567 6 34 --- --- --- --- PASS PCDHA7 56141 broad.mit.edu 37 5 140214425 140214425 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140214425C>T uc003lhq.2 + 1 457 c.457C>T c.(457-459)CCA>TCA p.P153S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.P153S NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 153 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTCGGTTTCCACTAGAGGG 0.557 20 33 --- --- --- --- PASS PCDHA8 56140 broad.mit.edu 37 5 140221176 140221176 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140221176C>T uc003lhs.2 + 1 270 c.270C>T c.(268-270)ATC>ATT p.I90I PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.I90I NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 90 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTCTCGGATCGACCGCGAGG 0.612 27 95 --- --- --- --- PASS PCDHA8 56140 broad.mit.edu 37 5 140222611 140222611 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140222611C>T uc003lhs.2 + 1 1705 c.1705C>T c.(1705-1707)CGG>TGG p.R569W PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.R569W NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 569 Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGGAGCCTCGGGTGGGTGG 0.721 7 41 --- --- --- --- PASS PCDHA8 56140 broad.mit.edu 37 5 140222729 140222729 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140222729C>T uc003lhs.2 + 1 1823 c.1823C>T c.(1822-1824)TCG>TTG p.S608L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.S608L NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 608 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGTGGCTTTCGTATGAGCTG 0.682 34 33 --- --- --- --- PASS PCDHA9 9752 broad.mit.edu 37 5 140229200 140229200 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140229200G>T uc003lhu.2 + 1 1844 c.1120G>T c.(1120-1122)GTG>TTG p.V374L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.V374L NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 374 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGATTAGTGTGATCGACCT 0.507 10 55 --- --- --- --- PASS PCDHA9 9752 broad.mit.edu 37 5 140229371 140229371 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140229371G>A uc003lhu.2 + 1 2015 c.1291G>A c.(1291-1293)GGC>AGC p.G431S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.G431S NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 431 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGGGACGGGGGCTCGCCTTC 0.632 15 56 --- --- --- --- PASS PCDHA9 9752 broad.mit.edu 37 5 140229634 140229634 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140229634C>T uc003lhu.2 + 1 2278 c.1554C>T c.(1552-1554)TAC>TAT p.Y518Y PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.Y518Y NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 518 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAAGGTGTACGCGCTGCAGC 0.687 11 52 --- --- --- --- PASS PCDHA9 9752 broad.mit.edu 37 5 140229833 140229833 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140229833G>A uc003lhu.2 + 1 2477 c.1753G>A c.(1753-1755)GTG>ATG p.V585M PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.V585M NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 585 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGCGGTCGGTGGGCGCCGG 0.672 14 44 --- --- --- --- PASS PCDHA10 56139 broad.mit.edu 37 5 140235755 140235755 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140235755G>A uc003lhx.2 + 1 122 c.122G>A c.(121-123)GGC>GAC p.G41D PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.G41D|PCDHA10_uc011dad.1_Missense_Mutation_p.G41D NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 41 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCAGACACGGCACCTTCGTG 0.672 14 32 --- --- --- --- PASS PCDHA10 56139 broad.mit.edu 37 5 140237067 140237067 + Silent SNP G C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140237067G>C uc003lhx.2 + 1 1434 c.1434G>C c.(1432-1434)GCG>GCC p.A478A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Silent_p.A478A|PCDHA10_uc011dad.1_Silent_p.A478A NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 478 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGTGTCTGCGTGGGACGCGG 0.662 22 50 --- --- --- --- PASS PCDHA12 56137 broad.mit.edu 37 5 140255160 140255160 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140255160G>A uc003lic.2 + 1 230 c.103G>A c.(103-105)GTC>ATC p.V35I PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.V35I NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 35 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCACTACTCCGTCTACGAGGA 0.677 10 15 --- --- --- --- PASS PCDHA13 56136 broad.mit.edu 37 5 140262269 140262269 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140262269G>A uc003lif.2 + 1 416 c.416G>A c.(415-417)CGA>CAA p.R139Q PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.R139Q|PCDHA13_uc003lid.2_Missense_Mutation_p.R139Q NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 139 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCAAGAAACGAATAATCATT 0.498 18 44 --- --- --- --- PASS PCDHAC1 56135 broad.mit.edu 37 5 140307343 140307343 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140307343A>T uc003lih.2 + 1 1042 c.866A>T c.(865-867)AAA>ATA p.K289I PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.K289I NM_018898 NP_061721 Q9H158 PCDC1_HUMAN protocadherin alpha subfamily C, 1 isoform 1 289 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGCACCCTAAAAGTGGGGAG 0.547 17 26 --- --- --- --- PASS PCDHAC1 56135 broad.mit.edu 37 5 140308116 140308116 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140308116G>A uc003lih.2 + 1 1815 c.1639G>A c.(1639-1641)GAT>AAT p.D547N PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.D547N NM_018898 NP_061721 Q9H158 PCDC1_HUMAN protocadherin alpha subfamily C, 1 isoform 1 547 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTTGTGGTAGATAGGAATGA 0.488 37 51 --- --- --- --- PASS PCDHAC1 56135 broad.mit.edu 37 5 140308458 140308458 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140308458C>T uc003lih.2 + 1 2157 c.1981C>T c.(1981-1983)CCT>TCT p.P661S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.P661S NM_018898 NP_061721 Q9H158 PCDC1_HUMAN protocadherin alpha subfamily C, 1 isoform 1 661 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACTCTGTCCCTCAGTTACT 0.493 13 39 --- --- --- --- PASS PCDHAC2 56134 broad.mit.edu 37 5 140346534 140346534 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140346534G>A uc003lii.2 + 1 423 c.183G>A c.(181-183)GTG>GTA p.V61V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Silent_p.V61V NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN protocadherin alpha subfamily C, 2 isoform 1 61 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGCAACGTGGCTCGCGCGC 0.617 3 3 --- --- --- --- PASS PCDHB1 29930 broad.mit.edu 37 5 140432413 140432413 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140432413G>A uc003lik.1 + 1 1435 c.1358G>A c.(1357-1359)CGG>CAG p.R453Q NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 453 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCAATATTTCGGGAAGATTCC 0.438 31 36 --- --- --- --- PASS PCDHB2 56133 broad.mit.edu 37 5 140475885 140475885 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140475885C>T uc003lil.2 + 1 1649 c.1511C>T c.(1510-1512)TCC>TTC p.S504F PCDHB2_uc003lim.1_Missense_Mutation_p.S165F NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 504 Extracellular (Potential).|Cadherin 5. 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) CCCCTCGCCTCCCTGGTCTCC 0.687 23 46 --- --- --- --- PASS PCDHB3 56132 broad.mit.edu 37 5 140480792 140480792 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140480792G>A uc003lio.2 + 1 559 c.559G>A c.(559-561)GAC>AAC p.D187N uc003lin.2_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 187 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGTCGTAGGGACGGAAGGAA 0.552 27 50 --- --- --- --- PASS PCDHB4 56131 broad.mit.edu 37 5 140502125 140502125 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140502125G>A uc003lip.1 + 1 545 c.545G>A c.(544-546)CGA>CAA p.R182Q NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 182 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATTCTCACTCGAAATCATAGT 0.463 9 23 --- --- --- --- PASS PCDHB6 56130 broad.mit.edu 37 5 140531103 140531103 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140531103C>T uc003lir.2 + 1 1265 c.1265C>T c.(1264-1266)ACT>ATT p.T422I PCDHB6_uc011dah.1_Missense_Mutation_p.T286I NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 422 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATCACGGTCACTGATTTGGGG 0.527 16 55 --- --- --- --- PASS PCDHB6 56130 broad.mit.edu 37 5 140531131 140531131 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140531131C>T uc003lir.2 + 1 1293 c.1293C>T c.(1291-1293)ACC>ACT p.T431T PCDHB6_uc011dah.1_Silent_p.T295T NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 431 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCTGAAAACCCAGCAGAGCA 0.562 33 44 --- --- --- --- PASS PCDHB7 56129 broad.mit.edu 37 5 140553593 140553593 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140553593C>T uc003lit.2 + 1 1351 c.1177C>T c.(1177-1179)CTG>TTG p.L393L NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 393 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCCTTCATCCTGAAGCCATC 0.483 10 49 --- --- --- --- PASS PCDHB7 56129 broad.mit.edu 37 5 140553821 140553821 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140553821C>T uc003lit.2 + 1 1579 c.1405C>T c.(1405-1407)CCC>TCC p.P469S NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 469 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCCGCCCTGCCCATCGGCAG 0.632 50 80 --- --- --- --- PASS PCDHB8 56128 broad.mit.edu 37 5 140558451 140558451 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140558451C>T uc011dai.1 + 1 1022 c.836C>T c.(835-837)TCC>TTC p.S279F PCDHB16_uc003liv.2_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 279 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAGAGATTTCCTATTCACTT 0.413 22 115 --- --- --- --- PASS PCDHB10 56126 broad.mit.edu 37 5 140572150 140572150 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140572150C>T uc003lix.2 + 1 199 c.25C>T c.(25-27)CCA>TCA p.P9S NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 9 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTTGTGCTTCCCAAGACAAAG 0.473 27 47 --- --- --- --- PASS PCDHB10 56126 broad.mit.edu 37 5 140573133 140573133 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140573133A>T uc003lix.2 + 1 1182 c.1008A>T c.(1006-1008)GAA>GAT p.E336D NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 336 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTTAGTGGAAGTATTGGACA 0.408 13 53 --- --- --- --- PASS PCDHB11 56125 broad.mit.edu 37 5 140579777 140579777 + Nonsense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140579777G>T uc003liy.2 + 1 430 c.430G>T c.(430-432)GAG>TAG p.E144* PCDHB11_uc011daj.1_Intron NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 144 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGAAATCCCAGAGAACAGTCC 0.423 32 123 --- --- --- --- PASS PCDHB12 56124 broad.mit.edu 37 5 140588952 140588952 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140588952A>T uc003liz.2 + 1 662 c.473A>T c.(472-474)AAG>ATG p.K158M PCDHB12_uc011dak.1_Intron NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 158 Extracellular (Potential).|Cadherin 2. 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) GAAAGTGCAAAGGATTTAGAT 0.373 11 46 --- --- --- --- PASS PCDHB12 56124 broad.mit.edu 37 5 140589097 140589097 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140589097G>A uc003liz.2 + 1 807 c.618G>A c.(616-618)CCG>CCA p.P206P PCDHB12_uc011dak.1_Intron NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 206 Extracellular (Potential).|Cadherin 2. 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) AAGAGCGCCCGGAGCTCAGTT 0.498 8 27 --- --- --- --- PASS PCDHGA1 56114 broad.mit.edu 37 5 140710553 140710553 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140710553C>T uc003lji.1 + 1 302 c.302C>T c.(301-303)CCG>CTG p.P101L PCDHGA1_uc011dan.1_Missense_Mutation_p.P101L NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 101 Cadherin 1.|Extracellular (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) CAGAGCATGCCGTGTCTCGTG 0.468 29 89 --- --- --- --- PASS PCDHGA3 56112 broad.mit.edu 37 5 140724155 140724155 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140724155C>T uc003ljm.1 + 1 555 c.555C>T c.(553-555)GTC>GTT p.V185V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Silent_p.V185V NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 185 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAATAGCGTCTCTGAGGGGG 0.512 42 60 --- --- --- --- PASS PCDHGA3 56112 broad.mit.edu 37 5 140724881 140724881 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140724881G>A uc003ljm.1 + 1 1281 c.1281G>A c.(1279-1281)GGG>GGA p.G427G PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.G187G|PCDHGA3_uc011dap.1_Silent_p.G427G NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 427 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTCAGATGGGGGAAGCCCGC 0.468 29 50 --- --- --- --- PASS PCDHGA3 56112 broad.mit.edu 37 5 140725985 140725985 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140725985G>A uc003ljm.1 + 1 2385 c.2385G>A c.(2383-2385)CAG>CAA p.Q795Q PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.Q555Q|PCDHGA3_uc011dap.1_Silent_p.Q795Q NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 795 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGATAACTCAGGATTTACTTG 0.418 28 45 --- --- --- --- PASS PCDHGB1 56104 broad.mit.edu 37 5 140731289 140731289 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140731289C>T uc003ljo.1 + 1 1462 c.1462C>T c.(1462-1464)CTG>TTG p.L488L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Silent_p.L488L NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 488 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTACTCTATTCTGGCCAGTGA 0.637 12 20 --- --- --- --- PASS PCDHGA4 56111 broad.mit.edu 37 5 140736714 140736714 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140736714T>A uc003ljq.1 + 1 1947 c.1947T>A c.(1945-1947)CAT>CAA p.H649Q PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGB2_uc003ljs.1_5'Flank|PCDHGA4_uc003ljp.1_Missense_Mutation_p.H649Q|PCDHGB2_uc011dar.1_5'Flank NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 649 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCAGGACCATGGCCAGCCCC 0.642 12 12 --- --- --- --- PASS PCDHGB2 56103 broad.mit.edu 37 5 140741210 140741210 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140741210C>T uc003ljs.1 + 1 1508 c.1508C>T c.(1507-1509)TCC>TTC p.S503F PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.S503F|PCDHGA5_uc011das.1_5'Flank NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 503 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGATTTTATCCTACGTGTCC 0.622 13 26 --- --- --- --- PASS PCDHGA5 56110 broad.mit.edu 37 5 140745898 140745898 + Silent SNP G A A rs34761299 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140745898G>A uc003lju.1 + 1 2001 c.2001G>A c.(1999-2001)AGG>AGA p.R667R PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Silent_p.R667R NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 667 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCCGACAGGATCCCTGACA 0.607 93 140 --- --- --- --- PASS PCDHGB3 56102 broad.mit.edu 37 5 140750391 140750391 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140750391G>A uc003ljw.1 + 1 430 c.430G>A c.(430-432)GAA>AAA p.E144K PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc011dat.1_Missense_Mutation_p.E144K NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 144 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAAATCAGCGAACTGGCTCT 0.473 31 125 --- --- --- --- PASS PCDHGB3 56102 broad.mit.edu 37 5 140750795 140750795 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140750795C>T uc003ljw.1 + 1 834 c.834C>T c.(832-834)ATC>ATT p.I278I PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Silent_p.I278I|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 278 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGAAATCATCTATGCCTTCA 0.468 52 83 --- --- --- --- PASS PCDHGB3 56102 broad.mit.edu 37 5 140751743 140751743 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140751743G>A uc003ljw.1 + 1 1782 c.1782G>A c.(1780-1782)GTG>GTA p.V594V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Silent_p.V594V|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 594 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGTGGCGGTGGACGCAGACT 0.662 8 45 --- --- --- --- PASS PCDHGB3 56102 broad.mit.edu 37 5 140751831 140751831 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140751831G>A uc003ljw.1 + 1 1870 c.1870G>A c.(1870-1872)GGT>AGT p.G624S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.G624S|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 624 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGCGCACGGGTGAGGTGCG 0.687 23 28 --- --- --- --- PASS PCDHGA6 56109 broad.mit.edu 37 5 140754622 140754622 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140754622G>A uc003ljy.1 + 1 972 c.972G>A c.(970-972)GGG>GGA p.G324G PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.G324G NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 324 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCGGGATGGGCCAGGTCTTC 0.413 30 92 --- --- --- --- PASS PCDHGA6 56109 broad.mit.edu 37 5 140754633 140754633 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140754633G>A uc003ljy.1 + 1 983 c.983G>A c.(982-984)CGA>CAA p.R328Q PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.R328Q NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 328 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGGTCTTCGAGACAGAGCG 0.423 29 92 --- --- --- --- PASS PCDHGA6 56109 broad.mit.edu 37 5 140755921 140755921 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140755921C>T uc003ljy.1 + 1 2271 c.2271C>T c.(2269-2271)GTC>GTT p.V757V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.V757V NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 757 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCACGAGGTCTCACTCACTG 0.577 30 50 --- --- --- --- PASS PCDHGA7 56108 broad.mit.edu 37 5 140762560 140762560 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140762560C>T uc003lka.1 + 1 94 c.94C>T c.(94-96)CTC>TTC p.L32F PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.L32F NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 32 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGACGTATTCTCTACTCCGT 0.657 9 29 --- --- --- --- PASS PCDHGA7 56108 broad.mit.edu 37 5 140762865 140762865 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140762865C>T uc003lka.1 + 1 399 c.399C>T c.(397-399)TTC>TTT p.F133F PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Silent_p.F133F NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 133 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCCAAGATTCTTGACGGAAG 0.418 31 30 --- --- --- --- PASS PCDHGA7 56108 broad.mit.edu 37 5 140763547 140763547 + Missense_Mutation SNP C T T rs145468093 by1000genomes TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140763547C>T uc003lka.1 + 1 1081 c.1081C>T c.(1081-1083)CCT>TCT p.P361S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.P361S NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 361 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAAGACACACCTCTTGGGAC 0.403 11 19 --- --- --- --- PASS PCDHGA9 56107 broad.mit.edu 37 5 140784579 140784579 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140784579C>T uc003lkh.1 + 1 2060 c.2060C>T c.(2059-2061)TCA>TTA p.S687L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.S687L NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 687 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGAGGCCTCAGACCTTACC 0.597 10 52 --- --- --- --- PASS PCDHGA9 56107 broad.mit.edu 37 5 140784793 140784793 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140784793C>T uc003lkh.1 + 1 2274 c.2274C>T c.(2272-2274)TCC>TCT p.S758S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Silent_p.S758S|PCDHGB6_uc003lki.1_5'Flank|PCDHGB6_uc003lkj.1_5'Flank NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 758 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGAGTTCTCCCTCACCGCTG 0.537 30 50 --- --- --- --- PASS PCDHGA11 56105 broad.mit.edu 37 5 140802420 140802420 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140802420C>T uc003lkq.1 + 1 1884 c.1626C>T c.(1624-1626)CCC>CCT p.P542P PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Silent_p.P542P|PCDHGA11_uc003lkp.1_Silent_p.P542P NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 542 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGACCCGCCCCTCAGCAGCA 0.582 41 76 --- --- --- --- PASS PCDHGA11 56105 broad.mit.edu 37 5 140802924 140802924 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:140802924C>T uc003lkq.1 + 1 2388 c.2130C>T c.(2128-2130)ATC>ATT p.I710I PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Silent_p.I710I|PCDHGA11_uc003lkp.1_Intron|PCDHGB8P_uc011daz.1_5'Flank NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 710 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTTTGTCATCGTGCTGCTGG 0.592 5 36 --- --- --- --- PASS ARAP3 64411 broad.mit.edu 37 5 141052628 141052628 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:141052628G>A uc003llm.2 - 7 1123 c.1045C>T c.(1045-1047)CAG>TAG p.Q349* ARAP3_uc011dbe.1_Nonsense_Mutation_p.Q11*|ARAP3_uc003lln.2_Nonsense_Mutation_p.Q271*|ARAP3_uc003llo.1_Nonsense_Mutation_p.Q349* NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 349 PH 1. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding breast(5)|ovary(1)|large_intestine(1) 7 GTGATGACCTGGAACTTGTTG 0.597 19 26 --- --- --- --- PASS ARAP3 64411 broad.mit.edu 37 5 141052630 141052630 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:141052630A>T uc003llm.2 - 7 1121 c.1043T>A c.(1042-1044)TTC>TAC p.F348Y ARAP3_uc011dbe.1_Missense_Mutation_p.F10Y|ARAP3_uc003lln.2_Missense_Mutation_p.F270Y|ARAP3_uc003llo.1_Missense_Mutation_p.F348Y NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 348 PH 1. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding breast(5)|ovary(1)|large_intestine(1) 7 GATGACCTGGAACTTGTTGTC 0.597 21 26 --- --- --- --- PASS PCDH1 5097 broad.mit.edu 37 5 141243174 141243174 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:141243174C>T uc003llq.2 - 3 2839 c.2722G>A c.(2722-2724)GGA>AGA p.G908R PCDH1_uc003llp.2_Missense_Mutation_p.G908R|PCDH1_uc011dbf.1_Missense_Mutation_p.G886R NM_002587 NP_002578 Q08174 PCDH1_HUMAN protocadherin 1 isoform 1 precursor 908 Cytoplasmic (Potential). cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) CTTTTGTTTCCCTTGGAGGCC 0.577 25 33 --- --- --- --- PASS PCDH1 5097 broad.mit.edu 37 5 141244804 141244804 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:141244804G>A uc003llq.2 - 3 1209 c.1092C>T c.(1090-1092)ACC>ACT p.T364T PCDH1_uc003llp.2_Silent_p.T364T|PCDH1_uc011dbf.1_Silent_p.T342T NM_002587 NP_002578 Q08174 PCDH1_HUMAN protocadherin 1 isoform 1 precursor 364 Extracellular (Potential).|Cadherin 3. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) TCTTGGGGTTGGTGCCTCGGT 0.582 19 46 --- --- --- --- PASS PCDH12 51294 broad.mit.edu 37 5 141335809 141335809 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:141335809G>A uc003llx.2 - 1 2819 c.1608C>T c.(1606-1608)ATC>ATT p.I536I NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 536 Extracellular (Potential).|Cadherin 5. neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCCTCTGCGATCACCTGGA 0.542 17 29 --- --- --- --- PASS SH3RF2 153769 broad.mit.edu 37 5 145383661 145383661 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:145383661G>A uc003lnt.2 + 4 927 c.689G>A c.(688-690)TGG>TAG p.W230* SH3RF2_uc011dbl.1_Nonsense_Mutation_p.W230* NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 230 SH3 2. ligase activity|protein phosphatase 1 binding|zinc ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GATGAGAACTGGGCAGAAGGC 0.423 12 48 --- --- --- --- PASS STK32A 202374 broad.mit.edu 37 5 146754755 146754755 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:146754755G>A uc010jgn.1 + 11 1286 c.1006G>A c.(1006-1008)GAT>AAT p.D336N STK32A_uc003lom.2_Missense_Mutation_p.D336N|STK32A_uc011dbw.1_Missense_Mutation_p.D336N NM_001112724 NP_001106195 Q8WU08 ST32A_HUMAN serine/threonine kinase 32A isoform 1 336 ATP binding|metal ion binding|protein serine/threonine kinase activity lung(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAGGAGAAGGATATGAGGAA 0.448 9 6 --- --- --- --- PASS JAKMIP2 9832 broad.mit.edu 37 5 147040805 147040805 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:147040805G>A uc003loq.1 - 3 715 c.333C>T c.(331-333)ATC>ATT p.I111I JAKMIP2_uc011dbx.1_Silent_p.I69I|JAKMIP2_uc003lor.1_Silent_p.I111I|uc003lop.1_3'UTR|JAKMIP2_uc010jgo.1_Silent_p.I111I NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 111 Golgi apparatus large_intestine(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAGCCTCTGGATCTCTCCAT 0.562 38 87 --- --- --- --- PASS SPINK5 11005 broad.mit.edu 37 5 147480126 147480126 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:147480126C>T uc003lox.2 + 13 1275 c.1202C>T c.(1201-1203)TCC>TTC p.S401F SPINK5_uc010jgs.1_Missense_Mutation_p.S373F|SPINK5_uc010jgr.2_Missense_Mutation_p.S382F|SPINK5_uc003low.2_Missense_Mutation_p.S401F|SPINK5_uc003loy.2_Missense_Mutation_p.S401F NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 isoform 401 Kazal-like 6. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity skin(2)|ovary(1)|breast(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACACCTGCTCCATGTGTGAG 0.423 24 50 --- --- --- --- PASS FBXO38 81545 broad.mit.edu 37 5 147795619 147795619 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:147795619C>T uc003lpf.1 + 11 1513 c.1393C>T c.(1393-1395)CGT>TGT p.R465C FBXO38_uc003lpg.1_Missense_Mutation_p.R465C|FBXO38_uc003lph.2_Missense_Mutation_p.R465C NM_205836 NP_995308 Q6PIJ6 FBX38_HUMAN F-box protein 38 isoform b 465 cytoplasm|nucleus ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGATGTTTCGTGAACCACC 0.348 12 45 --- --- --- --- PASS ADRB2 154 broad.mit.edu 37 5 148207179 148207179 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:148207179C>T uc003lpr.1 + 1 1024 c.785C>T c.(784-786)TCC>TTC p.S262F SH3TC2_uc003lpp.1_Intron NM_000024 NP_000015 P07550 ADRB2_HUMAN adrenergic, beta-2-, receptor, surface 262 Cytoplasmic. activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis endosome|integral to plasma membrane|lysosome|receptor complex beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373) CGCAGATCTTCCAAGTTCTGC 0.542 7 45 --- --- --- --- PASS PPARGC1B 133522 broad.mit.edu 37 5 149216068 149216068 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:149216068C>T uc003lrc.2 + 8 2092 c.2050C>T c.(2050-2052)CCC>TCC p.P684S PPARGC1B_uc003lrb.1_Missense_Mutation_p.P684S|PPARGC1B_uc003lrd.2_Missense_Mutation_p.P645S|PPARGC1B_uc003lrf.2_Missense_Mutation_p.P663S|PPARGC1B_uc003lre.1_Missense_Mutation_p.P663S NM_133263 NP_573570 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor 684 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CCAGAAGCGTCCCTTCTCCTG 0.622 12 23 --- --- --- --- PASS CSF1R 1436 broad.mit.edu 37 5 149449569 149449569 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:149449569G>A uc003lrl.2 - 9 1572 c.1377C>T c.(1375-1377)AGC>AGT p.S459S CSF1R_uc011dcd.1_Silent_p.S311S|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Silent_p.S459S NM_005211 NP_005202 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor precursor 459 Ig-like C2-type 5.|Extracellular (Potential). cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1) 54 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) AGGGCTCCTGGCTCAGGACCT 0.587 7 33 --- --- --- --- PASS ARSI 340075 broad.mit.edu 37 5 149676783 149676783 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:149676783C>T uc003lrv.2 - 2 2293 c.1704G>A c.(1702-1704)CGG>CGA p.R568R NM_001012301 NP_001012301 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I precursor 568 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACCATCAGATCCGTTGGGACA 0.522 19 34 --- --- --- --- PASS ZNF300 91975 broad.mit.edu 37 5 150276412 150276412 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:150276412C>T uc003lsy.1 - 6 656 c.389G>A c.(388-390)GGT>GAT p.G130D IRGM_uc011dcl.1_Intron NM_052860 NP_443092 Q96RE9 ZN300_HUMAN zinc finger protein 300 130 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTGACCATCACCTTGACAGAC 0.423 26 33 --- --- --- --- PASS ZNF300 91975 broad.mit.edu 37 5 150278106 150278106 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:150278106G>A uc003lsy.1 - 4 293 c.26C>T c.(25-27)TCA>TTA p.S9L IRGM_uc011dcl.1_Intron NM_052860 NP_443092 Q96RE9 ZN300_HUMAN zinc finger protein 300 9 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATCCTTGAATGATACTAACCC 0.433 22 58 --- --- --- --- PASS SLC36A1 206358 broad.mit.edu 37 5 150856202 150856202 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:150856202C>T uc003luc.2 + 9 1091 c.874C>T c.(874-876)CTG>TTG p.L292L GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Silent_p.L292L|SLC36A1_uc010jhw.1_Silent_p.L292L NM_078483 NP_510968 Q7Z2H8 S36A1_HUMAN solute carrier family 36 member 1 292 Helical; Name=7; (Potential). cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity skin(1) 1 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) CCCACTCATCCTGTACCTGGG 0.483 11 33 --- --- --- --- PASS FAT2 2196 broad.mit.edu 37 5 150929025 150929025 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:150929025C>T uc003lue.3 - 8 4633 c.4620G>A c.(4618-4620)TGG>TGA p.W1540* GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1540 Extracellular (Potential).|Cadherin 13. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAATGGTCACCCACACGAAGT 0.542 6 15 --- --- --- --- PASS FAT2 2196 broad.mit.edu 37 5 150929026 150929026 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:150929026C>T uc003lue.3 - 8 4632 c.4619G>A c.(4618-4620)TGG>TAG p.W1540* GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1540 Extracellular (Potential).|Cadherin 13. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AATGGTCACCCACACGAAGTT 0.537 6 15 --- --- --- --- PASS FAT2 2196 broad.mit.edu 37 5 150945550 150945550 + Silent SNP G A A rs138599681 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:150945550G>A uc003lue.3 - 1 2956 c.2943C>T c.(2941-2943)CTC>CTT p.L981L GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.L981L NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 981 Extracellular (Potential).|Cadherin 8. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCTCCAGAATGAGCGCCCCTG 0.617 7 16 --- --- --- --- PASS FAT2 2196 broad.mit.edu 37 5 150946443 150946443 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:150946443G>A uc003lue.3 - 1 2063 c.2050C>T c.(2050-2052)CTC>TTC p.L684F GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.L684F NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 684 Extracellular (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATAAAGTGGAGGATAGTCTTT 0.403 20 29 --- --- --- --- PASS FAT2 2196 broad.mit.edu 37 5 150947368 150947368 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:150947368G>A uc003lue.3 - 1 1138 c.1125C>T c.(1123-1125)TCC>TCT p.S375S GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.S375S NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 375 Extracellular (Potential).|Cadherin 3. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGCCAGGAGGGGAAAACTCAC 0.478 32 22 --- --- --- --- PASS GALNT10 55568 broad.mit.edu 37 5 153796373 153796373 + Splice_Site SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:153796373G>A uc003lvh.2 + 12 1786 c.1654_splice c.e12-1 p.D552_splice GALNT10_uc010jic.2_Splice_Site|GALNT10_uc010jid.2_Splice_Site_p.D393_splice|uc003lvi.2_Intron|GALNT10_uc003lvj.2_Splice_Site_p.D223_splice NM_198321 NP_938080 Q86SR1 GLT10_HUMAN GalNAc transferase 10 isoform a Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) ATGTTTTGTAGGACAAGACCC 0.493 13 24 --- --- --- --- PASS GALNT10 55568 broad.mit.edu 37 5 153796374 153796374 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:153796374G>A uc003lvh.2 + 12 1786 c.1654G>A c.(1654-1656)GAC>AAC p.D552N GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Missense_Mutation_p.D393N|uc003lvi.2_Intron|GALNT10_uc003lvj.2_Missense_Mutation_p.D223N NM_198321 NP_938080 Q86SR1 GLT10_HUMAN GalNAc transferase 10 isoform a 552 Lumenal (Potential).|Ricin B-type lectin. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) TGTTTTGTAGGACAAGACCCT 0.493 13 23 --- --- --- --- PASS SAP30L 79685 broad.mit.edu 37 5 153830692 153830692 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:153830692C>T uc003lvk.2 + 2 891 c.243C>T c.(241-243)ATC>ATT p.I81I SAP30L_uc003lvm.3_RNA|SAP30L_uc011ddc.1_Intron|SAP30L_uc011ddd.1_Intron|SAP30L_uc003lvl.2_RNA NM_024632 NP_078908 Q9HAJ7 SP30L_HUMAN SAP30-like isoform 1 81 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|metal ion binding 0 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) AAAATTTCATCCAGAGTGTCC 0.428 18 17 --- --- --- --- PASS GEMIN5 25929 broad.mit.edu 37 5 154287306 154287306 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:154287306G>A uc003lvx.3 - 16 2323 c.2240C>T c.(2239-2241)CCC>CTC p.P747L GEMIN5_uc011ddk.1_Missense_Mutation_p.P746L NM_015465 NP_056280 Q8TEQ6 GEMI5_HUMAN gemin 5 747 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding skin(2)|ovary(1) 3 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TCTCAAGGTGGGCTTTTTCTT 0.408 26 88 --- --- --- --- PASS KIF4B 285643 broad.mit.edu 37 5 154394592 154394592 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:154394592G>A uc010jih.1 + 1 1333 c.1173G>A c.(1171-1173)AAG>AAA p.K391K NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 391 Potential. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TGATGGAGAAGAATCAGTCCC 0.463 20 82 --- --- --- --- PASS SGCD 6444 broad.mit.edu 37 5 155935705 155935705 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:155935705C>T uc003lwd.3 + 3 760 c.284C>T c.(283-285)TCC>TTC p.S95F SGCD_uc003lwa.1_Missense_Mutation_p.S96F|SGCD_uc003lwb.2_Missense_Mutation_p.S96F|SGCD_uc003lwc.3_Missense_Mutation_p.S96F NM_001128209 NP_001121681 Q92629 SGCD_HUMAN delta-sarcoglycan isoform 3 95 Extracellular (Potential). cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma 0 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GAAATCCAGTCCCGACCAGTA 0.423 5 40 --- --- --- --- PASS SGCD 6444 broad.mit.edu 37 5 155935706 155935706 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:155935706C>T uc003lwd.3 + 3 761 c.285C>T c.(283-285)TCC>TCT p.S95S SGCD_uc003lwa.1_Silent_p.S96S|SGCD_uc003lwb.2_Silent_p.S96S|SGCD_uc003lwc.3_Silent_p.S96S NM_001128209 NP_001121681 Q92629 SGCD_HUMAN delta-sarcoglycan isoform 3 95 Extracellular (Potential). cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma 0 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AAATCCAGTCCCGACCAGTAA 0.428 5 40 --- --- --- --- PASS SGCD 6444 broad.mit.edu 37 5 156186335 156186335 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:156186335G>A uc003lwd.3 + 8 1280 c.804G>A c.(802-804)GGG>GGA p.G268G SGCD_uc003lwc.3_Silent_p.G269G NM_001128209 NP_001121681 Q92629 SGCD_HUMAN delta-sarcoglycan isoform 3 268 Extracellular (Potential). cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma 0 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCGCCAATGGGAGATTATTCC 0.502 12 67 --- --- --- --- PASS SOX30 11063 broad.mit.edu 37 5 157065364 157065364 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:157065364G>A uc003lxb.1 - 4 2096 c.1754C>T c.(1753-1755)CCC>CTC p.P585L SOX30_uc003lxc.1_Intron|SOX30_uc011dds.1_Missense_Mutation_p.P280L NM_178424 NP_848511 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 isoform a 585 Pro-rich. regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus|nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity ovary(1)|central_nervous_system(1) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGTGGAATGGGAGAAGCCTG 0.547 4 30 --- --- --- --- PASS EBF1 1879 broad.mit.edu 37 5 158140059 158140059 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:158140059G>A uc010jip.2 - 13 1590 c.1288C>T c.(1288-1290)CAC>TAC p.H430Y EBF1_uc011ddw.1_Missense_Mutation_p.H298Y|EBF1_uc011ddx.1_Missense_Mutation_p.H431Y|EBF1_uc003lxl.3_Missense_Mutation_p.H399Y NM_024007 NP_076870 Q9UH73 COE1_HUMAN early B-cell factor 430 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATCCCTGCGTGGACCGAGGTG 0.557 T HMGA2 lipoma 14 18 --- --- --- --- PASS EBF1 1879 broad.mit.edu 37 5 158223416 158223416 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:158223416G>A uc010jip.2 - 9 1148 c.846C>T c.(844-846)ATC>ATT p.I282I EBF1_uc011ddw.1_Silent_p.I150I|EBF1_uc011ddx.1_Silent_p.I283I|EBF1_uc003lxl.3_Silent_p.I251I NM_024007 NP_076870 Q9UH73 COE1_HUMAN early B-cell factor 282 IPT/TIG. multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGTCCCCTATGATGATCACAG 0.458 T HMGA2 lipoma 12 30 --- --- --- --- PASS ADRA1B 147 broad.mit.edu 37 5 159344505 159344505 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:159344505C>T uc003lxt.1 + 1 766 c.593C>T c.(592-594)ACC>ATC p.T198I NM_000679 NP_000670 P35368 ADA1B_HUMAN alpha-1B-adrenergic receptor 198 Extracellular (By similarity). cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade integral to plasma membrane alpha1-adrenergic receptor activity lung(1) 1 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656) TGCGGGGTCACCGAAGAACCC 0.577 18 40 --- --- --- --- PASS C1QTNF2 114898 broad.mit.edu 37 5 159776683 159776683 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:159776683G>A uc003lyd.2 - 3 489 c.485C>T c.(484-486)CCC>CTC p.P162L NM_031908 NP_114114 Q9BXJ5 C1QT2_HUMAN C1q and tumor necrosis factor related protein 2 117 Collagen-like. collagen skin(1) 1 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATGCTTCCCGGGGGTACCGTT 0.687 20 38 --- --- --- --- PASS ATP10B 23120 broad.mit.edu 37 5 159992576 159992576 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:159992576C>A uc003lym.1 - 26 5117 c.4270G>T c.(4270-4272)GGG>TGG p.G1424W ATP10B_uc010jit.1_Missense_Mutation_p.G674W NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 1424 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGGTGCTCCCCGGATGAGAGT 0.557 4 79 --- --- --- --- PASS ATP10B 23120 broad.mit.edu 37 5 160047825 160047825 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:160047825C>T uc003lym.1 - 15 2792 c.1945G>A c.(1945-1947)GAG>AAG p.E649K ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.2_Missense_Mutation_p.E207K NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 649 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCTAAGCTCTCCCCGAGGTCT 0.557 14 79 --- --- --- --- PASS ATP10B 23120 broad.mit.edu 37 5 160114830 160114830 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:160114830C>T uc003lym.1 - 5 1099 c.252G>A c.(250-252)CGG>CGA p.R84R ATP10B_uc003lyp.2_Silent_p.R84R|ATP10B_uc011deg.1_Silent_p.R128R|ATP10B_uc003lyo.2_5'Flank NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 84 Helical; (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAAAGAGATTCCGGGGCAGGA 0.353 23 42 --- --- --- --- PASS GABRB2 2561 broad.mit.edu 37 5 160972295 160972295 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:160972295G>A uc003lys.1 - 4 393 c.175C>T c.(175-177)CCC>TCC p.P59S GABRB2_uc011deh.1_5'UTR|GABRB2_uc003lyr.1_Missense_Mutation_p.P59S|GABRB2_uc003lyt.1_Missense_Mutation_p.P59S|GABRB2_uc010jiu.1_5'UTR|GABRB2_uc011dei.1_Missense_Mutation_p.P59S NM_021911 NP_068711 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 59 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity 0 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ACAGCCACGGGGGGACCTGCA 0.453 9 9 --- --- --- --- PASS WWC1 23286 broad.mit.edu 37 5 167882400 167882400 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:167882400C>A uc003lzu.2 + 19 2791 c.2698C>A c.(2698-2700)CCC>ACC p.P900T WWC1_uc003lzv.2_Missense_Mutation_p.P900T|WWC1_uc011den.1_Missense_Mutation_p.P900T|WWC1_uc003lzw.2_Missense_Mutation_p.P699T|WWC1_uc010jjf.1_Missense_Mutation_p.P172T NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 isoform 3 900 Interaction with histone H3. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity ovary(2)|skin(2)|breast(1) 5 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) GGCCCCATCCCCCACAGTGGT 0.612 5 69 --- --- --- --- PASS DOCK2 1794 broad.mit.edu 37 5 169188553 169188553 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:169188553C>T uc003maf.2 + 25 2558 c.2478C>T c.(2476-2478)ATC>ATT p.I826I DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.I318I NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 826 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) ACACCTGCATCCCTCCTGTGA 0.488 29 97 --- --- --- --- PASS FOXI1 2299 broad.mit.edu 37 5 169535120 169535120 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:169535120G>A uc003mai.3 + 2 687 c.642G>A c.(640-642)AGG>AGA p.R214R FOXI1_uc003maj.3_Intron NM_012188 NP_036320 Q12951 FOXI1_HUMAN forkhead box I1 isoform a 214 Fork-head. epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity 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|transcription regulatory region DNA binding breast(3)|central_nervous_system(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATTTCCGCAGGAAAAGGAAGA 0.493 Pendred_syndrome 32 25 --- --- --- --- PASS KCNMB1 3779 broad.mit.edu 37 5 169805862 169805862 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:169805862C>T uc003maq.1 - 4 822 c.422G>A c.(421-423)GGG>GAG p.G141E KCNIP1_uc003map.2_Intron NM_004137 NP_004128 Q16558 KCMB1_HUMAN potassium large conductance calcium-activated 141 Extracellular (Potential). platelet activation|synaptic transmission calcium-activated potassium channel activity|potassium channel regulator activity ovary(2) 2 Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.175) GGTTTCGTTCCCCCGAGGTGC 0.622 5 22 --- --- --- --- PASS RANBP17 64901 broad.mit.edu 37 5 170323062 170323062 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:170323062G>A uc003mba.2 + 5 448 c.432G>A c.(430-432)GTG>GTA p.V144V RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_Intron|RANBP17_uc003maw.2_Silent_p.V144V|RANBP17_uc011dew.1_Silent_p.V144V NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN RAN binding protein 17 144 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGGGTACTGTGGAACACTGCA 0.373 T TRD@ ALL 8 24 --- --- --- --- PASS RANBP17 64901 broad.mit.edu 37 5 170692728 170692728 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:170692728C>T uc003mba.2 + 25 2836 c.2820C>T c.(2818-2820)ATC>ATT p.I940I RANBP17_uc003mbb.2_Silent_p.I265I|RANBP17_uc010jjs.2_RNA NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN RAN binding protein 17 940 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TAGACTACATCGTCACCTACC 0.418 T TRD@ ALL 28 61 --- --- --- --- PASS SH3PXD2B 285590 broad.mit.edu 37 5 171766402 171766402 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:171766402G>A uc003mbr.2 - 13 1878 c.1707C>T c.(1705-1707)ATC>ATT p.I569I NM_001017995 NP_001017995 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 569 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GGGCTGGAGGGATGTGTTTGG 0.627 14 27 --- --- --- --- PASS BNIP1 662 broad.mit.edu 37 5 172571570 172571570 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:172571570C>T uc003mcj.3 + 1 126 c.22C>T c.(22-24)CAC>TAC p.H8Y BNIP1_uc003mci.3_Missense_Mutation_p.H8Y|BNIP1_uc003mck.3_Missense_Mutation_p.H8Y|BNIP1_uc003mcl.3_Missense_Mutation_p.H8Y NM_001205 NP_001196 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kD interacting protein 1 8 Cytoplasmic (Potential). anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex protein binding ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) CCAAGACGTCCACGTCCGGAT 0.612 OREG0017054 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 11 --- --- --- --- PASS CPLX2 10814 broad.mit.edu 37 5 175306946 175306946 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:175306946C>T uc003mde.1 + 5 649 c.303C>T c.(301-303)ATC>ATT p.I101I CPLX2_uc003mdf.1_Silent_p.I101I NM_006650 NP_006641 Q6PUV4 CPLX2_HUMAN complexin 2 101 mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis cytosol ovary(1) 1 all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) AGAAGGCCATCCCTGCGGGCT 0.627 4 7 --- --- --- --- PASS CDHR2 54825 broad.mit.edu 37 5 176016139 176016139 + Silent SNP G A A rs35355598 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:176016139G>A uc003mem.1 + 22 3030 c.2964G>A c.(2962-2964)TCG>TCA p.S988S CDHR2_uc003men.1_Silent_p.S988S NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 988 Extracellular (Potential).|Cadherin 9. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 GTGTCTTCTCGATCTTCACCT 0.597 23 141 --- --- --- --- PASS SNCB 6620 broad.mit.edu 37 5 176047818 176047818 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:176047818C>T uc003mep.2 - 7 842 c.399G>A c.(397-399)GAG>GAA p.E133E SNCB_uc003meq.2_Silent_p.E133E NM_001001502 NP_001001502 Q16143 SYUB_HUMAN beta-synuclein 133 calcium ion binding|phospholipase inhibitor activity ovary(1) 1 all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCCCTACGCCTCTGGCTCAT 0.607 11 21 --- --- --- --- PASS SNCB 6620 broad.mit.edu 37 5 176048305 176048305 + Splice_Site SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:176048305C>T uc003mep.2 - 6 726 c.283_splice c.e6-1 p.P95_splice SNCB_uc003meq.2_Splice_Site_p.P95_splice|SNCB_uc010jke.1_Intron NM_001001502 NP_001001502 Q16143 SYUB_HUMAN beta-synuclein calcium ion binding|phospholipase inhibitor activity ovary(1) 1 all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTTCCTCTGGCTGTGGGCAGA 0.597 3 6 --- --- --- --- PASS HK3 3101 broad.mit.edu 37 5 176316539 176316539 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:176316539C>T uc003mfa.2 - 8 849 c.757G>A c.(757-759)GAG>AAG p.E253K HK3_uc003mez.2_5'UTR NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 253 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGTGCCTCCTCCATGTAACAC 0.632 15 13 --- --- --- --- PASS NSD1 64324 broad.mit.edu 37 5 176638381 176638381 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:176638381C>T uc003mfr.3 + 5 3119 c.2981C>T c.(2980-2982)TCC>TTC p.S994F NSD1_uc003mft.3_Missense_Mutation_p.S725F|NSD1_uc003mfs.1_Missense_Mutation_p.S891F|NSD1_uc011dfx.1_Missense_Mutation_p.S642F NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 994 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TTGTCTGCTTCCCTACCTGGC 0.512 T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 20 62 --- --- --- --- PASS SLC34A1 6569 broad.mit.edu 37 5 176824994 176824994 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:176824994G>A uc003mgk.3 + 13 1728 c.1627G>A c.(1627-1629)GGT>AGT p.G543S NM_003052 NP_003043 Q06495 NPT2A_HUMAN solute carrier family 34 (sodium phosphate), 543 Helical; Name=M8; (Potential). phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(1) 1 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGTCATGGTAGGTGTGGGCAC 0.607 7 28 --- --- --- --- PASS COL23A1 91522 broad.mit.edu 37 5 177666180 177666180 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:177666180C>T uc003mje.2 - 28 1940 c.1582G>A c.(1582-1584)GGC>AGC p.G528S COL23A1_uc010jkt.2_Missense_Mutation_p.G410S NM_173465 NP_775736 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 528 Extracellular (Potential).|Gly-rich. collagen|integral to membrane|plasma membrane protein binding central_nervous_system(1)|skin(1) 2 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) CCGTCGGGGCCCTGGAAAGGA 0.657 8 20 --- --- --- --- PASS ZNF454 285676 broad.mit.edu 37 5 178391721 178391721 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:178391721G>A uc003mjo.1 + 5 587 c.316G>A c.(316-318)GAT>AAT p.D106N ZNF454_uc010jkz.1_Missense_Mutation_p.D106N NM_182594 NP_872400 Q8N9F8 ZN454_HUMAN zinc finger protein 454 106 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) AGAAGAATTGGATCAATGGAC 0.428 6 40 --- --- --- --- PASS GRM6 2916 broad.mit.edu 37 5 178413751 178413751 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:178413751C>T uc003mjr.2 - 8 1683 c.1504G>A c.(1504-1506)GAG>AAG p.E502K GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.E85K|GRM6_uc003mjs.1_Missense_Mutation_p.E122K NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 502 Extracellular (Potential). detection of visible light|visual perception integral to plasma membrane lung(4)|ovary(2)|breast(1)|pancreas(1) 8 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) TGCAGGGCCTCCACCTGGGAC 0.687 4 19 --- --- --- --- PASS TBC1D9B 23061 broad.mit.edu 37 5 179302150 179302150 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:179302150C>T uc003mlh.2 - 12 1975 c.1938G>A c.(1936-1938)ACG>ACA p.T646T TBC1D9B_uc003mli.2_Silent_p.T646T|TBC1D9B_uc003mlj.2_Silent_p.T646T|TBC1D9B_uc011dgv.1_5'Flank NM_198868 NP_942568 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 646 Rab-GAP TBC. integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(1)|skin(1) 2 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGAAGTCTCTCGTGAGCTCTT 0.632 7 30 --- --- --- --- PASS GFPT2 9945 broad.mit.edu 37 5 179765571 179765571 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:179765571G>A uc003mlw.1 - 2 135 c.37C>T c.(37-39)CCC>TCC p.P13S NM_005110 NP_005101 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 13 Glutamine amidotransferase type-2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding ovary(1)|skin(1) 2 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) CTCGTCCGGGGGACTCTGTAG 0.532 5 16 --- --- --- --- PASS FLT4 2324 broad.mit.edu 37 5 180047186 180047186 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:180047186C>T uc003mma.3 - 17 2608 c.2529G>A c.(2527-2529)GAG>GAA p.E843E FLT4_uc003mlz.3_Silent_p.E843E|FLT4_uc003mmb.1_Silent_p.E376E NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 843 Cytoplasmic (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GGTGCAGCCGCTCTCGGGGGA 0.637 Congenital_Hereditary_Lymphedema 12 13 --- --- --- --- PASS OR2Y1 134083 broad.mit.edu 37 5 180166858 180166858 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:180166858G>A uc003mmf.1 - 1 201 c.201C>T c.(199-201)TCC>TCT p.S67S NM_001001657 NP_001001657 Q8NGV0 OR2Y1_HUMAN olfactory receptor, family 2, subfamily Y, 67 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGTCCAGGAGGGACAGATGAG 0.572 11 32 --- --- --- --- PASS BTNL8 79908 broad.mit.edu 37 5 180377022 180377022 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:180377022G>A uc003mmp.2 + 8 1215 c.981G>A c.(979-981)AGG>AGA p.R327R BTNL8_uc003mmq.2_3'UTR|BTNL8_uc011dhg.1_Silent_p.R202R|BTNL8_uc010jll.2_3'UTR|BTNL8_uc010jlm.2_Silent_p.R211R|BTNL8_uc011dhh.1_Silent_p.R143R NM_001040462 NP_001035552 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 isoform 2 precursor 327 B30.2/SPRY.|Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GATTTACAAGGAAGAGTGTGG 0.527 15 37 --- --- --- --- PASS BTNL9 153579 broad.mit.edu 37 5 180475255 180475255 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:180475255G>A uc003mmt.2 + 3 669 c.438G>A c.(436-438)TGG>TGA p.W146* BTNL9_uc011dhi.1_Nonsense_Mutation_p.W77* NM_152547 NP_689760 Q6UXG8 BTNL9_HUMAN butyrophilin-like 9 precursor 146 Extracellular (Potential). integral to membrane ovary(1)|central_nervous_system(1) 2 all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAGCTCTCTGGGAACTGGAGG 0.572 6 17 --- --- --- --- PASS OR2V2 285659 broad.mit.edu 37 5 180582831 180582831 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr5:180582831G>A uc011dhj.1 + 1 889 c.889G>A c.(889-891)GAG>AAG p.E297K NM_206880 NP_996763 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, 297 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAGGAACAGGGAGGTGATGGG 0.532 7 25 --- --- --- --- PASS FOXC1 2296 broad.mit.edu 37 6 1611181 1611181 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:1611181C>T uc003mtp.2 + 1 501 c.501C>T c.(499-501)TTC>TTT p.F167F NM_001453 NP_001444 Q12948 FOXC1_HUMAN forkhead box C1 167 Fork-head. anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis nuclear heterochromatin|transcription factor complex chromatin DNA binding|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|transcription regulatory region DNA binding ovary(1) 1 Ovarian(93;0.0733) all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895) Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168) ACGGCAGCTTCCTGCGGCGGC 0.552 8 28 --- --- --- --- PASS SERPINB6 5269 broad.mit.edu 37 6 2948542 2948542 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:2948542G>A uc003muk.2 - 6 3116 c.1121C>T c.(1120-1122)TCC>TTC p.S374F SERPINB6_uc003mui.2_Missense_Mutation_p.S257F|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.S374F|SERPINB6_uc003mum.2_Missense_Mutation_p.S374F|SERPINB6_uc003mun.2_Missense_Mutation_p.S374F|SERPINB6_uc003muo.2_Missense_Mutation_p.S374F NM_004568 NP_004559 P35237 SPB6_HUMAN serine (or cysteine) proteinase inhibitor, clade 374 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity 0 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) TCACGGAGAGGAAAAGCGGCC 0.602 15 21 --- --- --- --- PASS RREB1 6239 broad.mit.edu 37 6 7231821 7231821 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:7231821C>T uc003mxc.2 + 10 3879 c.3489C>T c.(3487-3489)CCC>CCT p.P1163P RREB1_uc003mxb.2_Silent_p.P1163P|RREB1_uc010jnx.2_Silent_p.P1163P NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 1163 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) GGAGCCGACCCCGCGCCAACA 0.667 4 5 --- --- --- --- PASS RREB1 6239 broad.mit.edu 37 6 7231916 7231916 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:7231916C>T uc003mxc.2 + 10 3974 c.3584C>T c.(3583-3585)CCG>CTG p.P1195L RREB1_uc003mxb.2_Missense_Mutation_p.P1195L|RREB1_uc010jnx.2_Missense_Mutation_p.P1195L NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 1195 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) AAGTTCAGTCCGTTTCTGCAG 0.637 5 20 --- --- --- --- PASS GCNT2 2651 broad.mit.edu 37 6 10529189 10529189 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:10529189C>T uc010joo.2 + 3 596 c.45C>T c.(43-45)ATC>ATT p.I15I GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Silent_p.I14I|GCNT2_uc010jon.2_Silent_p.I14I NM_145649 NP_663624 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, 15 Helical; Signal-anchor for type II membrane protein; (Potential). Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity p.S15N(1) ovary(2) 2 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) CGTCTCTTATCTCTGCCCTGA 0.413 16 35 --- --- --- --- PASS GCNT2 2651 broad.mit.edu 37 6 10529190 10529190 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:10529190T>A uc010joo.2 + 3 597 c.46T>A c.(46-48)TCT>ACT p.S16T GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Missense_Mutation_p.S15T|GCNT2_uc010jon.2_Missense_Mutation_p.S15T NM_145649 NP_663624 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, 16 Helical; Signal-anchor for type II membrane protein; (Potential). Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(2) 2 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) GTCTCTTATCTCTGCCCTGAT 0.418 16 35 --- --- --- --- PASS HIVEP1 3096 broad.mit.edu 37 6 12164203 12164203 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:12164203C>T uc003nac.2 + 9 7845 c.7666C>T c.(7666-7668)CCC>TCC p.P2556S HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 2556 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) CACCTTAATCCCCTCAGTCAG 0.532 16 32 --- --- --- --- PASS HIVEP1 3096 broad.mit.edu 37 6 12164204 12164204 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:12164204C>T uc003nac.2 + 9 7846 c.7667C>T c.(7666-7668)CCC>CTC p.P2556L HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 2556 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) ACCTTAATCCCCTCAGTCAGT 0.532 16 31 --- --- --- --- PASS JARID2 3720 broad.mit.edu 37 6 15496635 15496635 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:15496635C>T uc003nbj.2 + 7 1423 c.1179C>T c.(1177-1179)CTC>CTT p.L393L JARID2_uc011diu.1_Silent_p.L257L|JARID2_uc011div.1_Silent_p.L221L|JARID2_uc011diw.1_Silent_p.L355L NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 393 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) TGCTATCCCTCGGGGGGGCGT 0.577 29 36 --- --- --- --- PASS CAP2 10486 broad.mit.edu 37 6 17543180 17543180 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:17543180C>T uc003ncb.2 + 10 1358 c.1115C>T c.(1114-1116)TCC>TTC p.S372F CAP2_uc010jpk.1_RNA|CAP2_uc011dja.1_Missense_Mutation_p.S346F|CAP2_uc011djb.1_Missense_Mutation_p.S308F|CAP2_uc011djc.1_Missense_Mutation_p.S260F|CAP2_uc011djd.1_Missense_Mutation_p.S112F NM_006366 NP_006357 P40123 CAP2_HUMAN adenylyl cyclase-associated protein 2 372 C-CAP/cofactor C-like. activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding ovary(1) 1 Breast(50;0.0333)|Ovarian(93;0.0386) all_hematologic(90;0.0466) all cancers(50;0.194)|Epithelial(50;0.227) AAAGTAAACTCCATTATAATT 0.333 31 57 --- --- --- --- PASS KIF13A 63971 broad.mit.edu 37 6 17809080 17809080 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:17809080G>A uc003ncg.3 - 18 2187 c.2082C>T c.(2080-2082)TTC>TTT p.F694F KIF13A_uc003ncf.2_Silent_p.F694F|KIF13A_uc003nch.3_Silent_p.F694F|KIF13A_uc003nci.3_Silent_p.F694F NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 694 Potential. cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) CCTCAGCCAGGAAGTTTGCTT 0.473 16 22 --- --- --- --- PASS DCDC2 51473 broad.mit.edu 37 6 24278332 24278332 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:24278332C>T uc003ndx.2 - 7 1169 c.867G>A c.(865-867)ACG>ACA p.T289T DCDC2_uc003ndy.2_Silent_p.T289T NM_016356 NP_057440 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 289 cellular defense response|intracellular signal transduction|neuron migration ovary(1) 1 Ovarian(999;0.101) GTTTCAATTTCGTCAGTTTTT 0.348 9 16 --- --- --- --- PASS ALDH5A1 7915 broad.mit.edu 37 6 24505195 24505195 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:24505195C>T uc003neg.2 + 4 736 c.708C>T c.(706-708)TCC>TCT p.S236S ALDH5A1_uc003nef.2_Silent_p.S236S NM_001080 NP_001071 P51649 SSDH_HUMAN aldehyde dehydrogenase 5A1 isoform 2 precursor 236 acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process mitochondrial matrix|soluble fraction succinate-semialdehyde dehydrogenase activity 0 Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139) CGCCCTTCTCCGCCCTGGCCC 0.557 13 25 --- --- --- --- PASS C6orf62 81688 broad.mit.edu 37 6 24714623 24714623 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:24714623G>A uc003nel.2 - 3 859 c.352C>T c.(352-354)CGG>TGG p.R118W NM_030939 NP_112201 Q9GZU0 CF062_HUMAN hypothetical protein LOC81688 118 intracellular 0 ATATCATTCCGAGGCCAAAGA 0.348 29 43 --- --- --- --- PASS SLC17A3 10786 broad.mit.edu 37 6 25850059 25850059 + Nonsense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:25850059A>T uc003nfi.3 - 9 1121 c.1011T>A c.(1009-1011)TAT>TAA p.Y337* SLC17A3_uc003nfk.3_Nonsense_Mutation_p.Y415* NM_006632 NP_006623 O00476 NPT4_HUMAN solute carrier family 17 (sodium phosphate), 337 Helical; (Potential). glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity 0 AGACATTGATATAAATCCCTG 0.423 19 27 --- --- --- --- PASS BTN3A1 11119 broad.mit.edu 37 6 26406243 26406243 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:26406243G>A uc003nhv.2 + 3 560 c.192G>A c.(190-192)GAG>GAA p.E64E BTN3A1_uc011dkj.1_Silent_p.E64E|BTN3A1_uc011dkk.1_Silent_p.E64E|BTN3A1_uc010jqj.2_Silent_p.E64E NM_007048 NP_008979 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 isoform a 64 Ig-like V-type 1.|Extracellular (Potential). lipid metabolic process integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 AGACCATGGAGCTGAAGTGGG 0.562 40 44 --- --- --- --- PASS BTN3A3 10384 broad.mit.edu 37 6 26444264 26444264 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:26444264C>T uc003nhz.2 + 4 345 c.165C>T c.(163-165)TTC>TTT p.F55F BTN3A3_uc003nia.2_Silent_p.F13F|BTN3A3_uc011dkn.1_Silent_p.F13F NM_006994 NP_008925 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 isoform a 55 Extracellular (Potential).|Ig-like V-type 1. integral to membrane 0 GTCACCTGTTCCCGACCATGA 0.577 38 76 --- --- --- --- PASS ZKSCAN4 387032 broad.mit.edu 37 6 28213072 28213072 + Missense_Mutation SNP T G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:28213072T>G uc003nks.1 - 5 1704 c.1460A>C c.(1459-1461)TAT>TCT p.Y487S ZKSCAN4_uc011dlb.1_Missense_Mutation_p.Y332S NM_019110 NP_061983 Q969J2 ZKSC4_HUMAN zinc finger with KRAB and SCAN domains 4 487 C2H2-type 6. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 ATTACATTTATAAGACACGGG 0.443 28 45 --- --- --- --- PASS SCAND3 114821 broad.mit.edu 37 6 28541122 28541122 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:28541122G>A uc003nlo.2 - 4 3162 c.2544C>T c.(2542-2544)ATC>ATT p.I848I NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 848 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 aaacttctttgatgcagtctt 0.000 35 77 --- --- --- --- PASS SCAND3 114821 broad.mit.edu 37 6 28541310 28541310 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:28541310C>T uc003nlo.2 - 4 2974 c.2356G>A c.(2356-2358)GAA>AAA p.E786K NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 786 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 gaacttatttctttatgtttt 0.000 10 32 --- --- --- --- PASS SCAND3 114821 broad.mit.edu 37 6 28543804 28543804 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:28543804G>A uc003nlo.2 - 3 1296 c.678C>T c.(676-678)TTC>TTT p.F226F NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 226 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 AGCTTCTGAAGAACTTTTCTC 0.348 16 38 --- --- --- --- PASS OR5V1 81696 broad.mit.edu 37 6 29323094 29323094 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:29323094C>T uc011dlo.1 - 1 961 c.879G>A c.(877-879)AGG>AGA p.R293R NM_030876 NP_110503 Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, 293 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|kidney(1) 4 TGTCCTTATTCCTCAATGTGT 0.403 30 67 --- --- --- --- PASS OR10C1 442194 broad.mit.edu 37 6 29407862 29407862 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:29407862G>A uc011dlp.1 + 1 70 c.70G>A c.(70-72)GGC>AGC p.G24S OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, 24 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CGACCTCCAGGGCTTGCTCTT 0.542 18 41 --- --- --- --- PASS OR10C1 442194 broad.mit.edu 37 6 29407863 29407863 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:29407863G>A uc011dlp.1 + 1 71 c.71G>A c.(70-72)GGC>GAC p.G24D OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, 24 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GACCTCCAGGGCTTGCTCTTC 0.542 18 42 --- --- --- --- PASS OR2H1 26716 broad.mit.edu 37 6 29429658 29429658 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:29429658G>A uc003nmi.2 + 3 555 c.112G>A c.(112-114)GTG>ATG p.V38M OR2H1_uc003nmj.1_Missense_Mutation_p.V38M|OR2H1_uc010jri.1_Intron NM_030883 NP_112145 Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, 38 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CTTGACCCTGGTGGGCAACAC 0.527 35 69 --- --- --- --- PASS PPP1R10 5514 broad.mit.edu 37 6 30577617 30577617 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:30577617G>A uc003nqn.1 - 3 657 c.105C>T c.(103-105)TTC>TTT p.F35F PPP1R10_uc010jsc.1_5'UTR NM_002714 NP_002705 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 35 Interaction with TOX4 (By similarity). protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding ovary(2)|lung(1)|kidney(1) 4 AGACTCACCTGAAGATCTTGG 0.463 20 43 --- --- --- --- PASS MDC1 9656 broad.mit.edu 37 6 30672562 30672562 + Silent SNP G C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:30672562G>C uc003nrg.3 - 10 4838 c.4398C>G c.(4396-4398)ACC>ACG p.T1466T MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Silent_p.T1073T NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1466 Pro-rich.|Interaction with the PRKDC complex. cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 TAGGCTCAGGGGTAACAGGCT 0.572 Other_conserved_DNA_damage_response_genes 38 87 --- --- --- --- PASS VARS2 57176 broad.mit.edu 37 6 30891143 30891143 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:30891143C>T uc003nsc.1 + 24 2959 c.2327C>T c.(2326-2328)TCC>TTC p.S776F VARS2_uc011dmx.1_Missense_Mutation_p.S776F|VARS2_uc011dmy.1_Missense_Mutation_p.S636F|VARS2_uc011dmz.1_Missense_Mutation_p.S806F|VARS2_uc011dna.1_Missense_Mutation_p.S774F|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Missense_Mutation_p.S214F|VARS2_uc010jsg.1_Missense_Mutation_p.S148F|VARS2_uc010jsh.1_5'UTR NM_020442 NP_065175 Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 776 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity ovary(3)|central_nervous_system(1) 4 TCTCCCTCCTCCCCGATGGAT 0.662 12 26 --- --- --- --- PASS MICB 4277 broad.mit.edu 37 6 31475280 31475280 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:31475280G>A uc003ntn.3 + 5 1112 c.996G>A c.(994-996)AAG>AAA p.K332K MICB_uc011dnm.1_Silent_p.K300K|MICB_uc003nto.3_Silent_p.K289K NM_005931 NP_005922 Q29980 MICB_HUMAN MHC class I polypeptide-related sequence B 332 Cytoplasmic (Potential). antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding 0 CTTGTTGCAAGAAGAAAACAT 0.473 15 28 --- --- --- --- PASS BAT2 7916 broad.mit.edu 37 6 31590630 31590630 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:31590630C>T uc003nvb.3 + 2 313 c.64C>T c.(64-66)CTG>TTG p.L22L BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Silent_p.L22L|SNORA38_uc003nvd.2_5'Flank|BAT2_uc003nve.2_5'Flank NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 22 cytoplasm|nucleus protein binding 0 CTCGCTCAACCTGTTTGATAC 0.517 4 175 --- --- --- --- PASS BAT2 7916 broad.mit.edu 37 6 31603799 31603799 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:31603799C>T uc003nvb.3 + 25 5846 c.5597C>T c.(5596-5598)CCT>CTT p.P1866L BAT2_uc003nvc.3_Missense_Mutation_p.P1866L NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 1866 cytoplasm|nucleus protein binding 0 GGCTTCCGCCCTGGGACACCC 0.537 17 25 --- --- --- --- PASS BAT4 7918 broad.mit.edu 37 6 31631763 31631763 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:31631763G>A uc003nvn.2 - 2 1138 c.493C>T c.(493-495)CGT>TGT p.R165C BAT4_uc003nvo.3_Missense_Mutation_p.R165C|BAT4_uc003nvp.3_Missense_Mutation_p.R165C|BAT4_uc003nvq.2_Missense_Mutation_p.R165C|CSNK2B_uc010jsz.1_5'Flank|CSNK2B_uc010jta.1_5'Flank|CSNK2B_uc003nvr.1_5'Flank|CSNK2B_uc003nvs.1_5'Flank NM_033177 NP_149417 O95872 GPAN1_HUMAN HLA-B associated transcript 4 165 ANK 2. intracellular nucleic acid binding 0 GCAGCCCCACGGCCCAGGAGA 0.657 20 24 --- --- --- --- PASS BAT4 7918 broad.mit.edu 37 6 31631764 31631764 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:31631764G>A uc003nvn.2 - 2 1137 c.492C>T c.(490-492)GGC>GGT p.G164G BAT4_uc003nvo.3_Silent_p.G164G|BAT4_uc003nvp.3_Silent_p.G164G|BAT4_uc003nvq.2_Silent_p.G164G|CSNK2B_uc010jsz.1_5'Flank|CSNK2B_uc010jta.1_5'Flank|CSNK2B_uc003nvr.1_5'Flank|CSNK2B_uc003nvs.1_5'Flank NM_033177 NP_149417 O95872 GPAN1_HUMAN HLA-B associated transcript 4 164 ANK 2. intracellular nucleic acid binding 0 CAGCCCCACGGCCCAGGAGAT 0.662 19 24 --- --- --- --- PASS LY6G6F 259215 broad.mit.edu 37 6 31675746 31675746 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:31675746G>A uc003nwa.1 + 3 481 c.481G>A c.(481-483)GAA>AAA p.E161K BAT5_uc011dnz.1_Intron|LY6G6F_uc003nwb.1_Missense_Mutation_p.E161K NM_001003693 NP_001003693 Q5SQ64 LY66F_HUMAN G6f protein precursor 161 Extracellular (Potential). integral to membrane|plasma membrane breast(1)|central_nervous_system(1) 2 GACCTGGCAGGAAGGGAAGGG 0.622 18 48 --- --- --- --- PASS VARS 7407 broad.mit.edu 37 6 31753355 31753355 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:31753355C>T uc003nxe.2 - 9 1679 c.1256G>A c.(1255-1257)TGG>TAG p.W419* VARS_uc011doi.1_RNA NM_006295 NP_006286 P26640 SYVC_HUMAN valyl-tRNA synthetase 419 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 L-Valine(DB00161) CTCCTCCTTCCACTTCCAGAC 0.607 4 10 --- --- --- --- PASS VARS 7407 broad.mit.edu 37 6 31760835 31760835 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:31760835G>A uc003nxe.2 - 3 873 c.450C>T c.(448-450)ACC>ACT p.T150T VARS_uc011doi.1_Intron NM_006295 NP_006286 P26640 SYVC_HUMAN valyl-tRNA synthetase 150 GST C-terminal. translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 L-Valine(DB00161) CGGCCAAGTAGGTGTGCAGCC 0.647 4 4 --- --- --- --- PASS VARS 7407 broad.mit.edu 37 6 31760836 31760836 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:31760836G>A uc003nxe.2 - 3 872 c.449C>T c.(448-450)ACC>ATC p.T150I VARS_uc011doi.1_Intron NM_006295 NP_006286 P26640 SYVC_HUMAN valyl-tRNA synthetase 150 GST C-terminal. translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 L-Valine(DB00161) GGCCAAGTAGGTGTGCAGCCG 0.652 4 4 --- --- --- --- PASS HSPA1L 3305 broad.mit.edu 37 6 31779345 31779345 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:31779345G>A uc003nxh.2 - 2 588 c.405C>T c.(403-405)GCC>GCT p.A135A HSPA1L_uc010jte.2_Silent_p.A135A NM_005527 NP_005518 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 135 response to unfolded protein ATP binding ovary(3)|pleura(1)|kidney(1)|skin(1) 6 GGCCCAAAAAGGCCTCAGCAG 0.483 23 24 --- --- --- --- PASS TNXB 7148 broad.mit.edu 37 6 32026084 32026084 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:32026084C>T uc003nzl.2 - 22 7778 c.7576G>A c.(7576-7578)GGG>AGG p.G2526R NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2586 Fibronectin type-III 18. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 GTCAGCTCCCCCAGGAGAGGC 0.627 11 18 --- --- --- --- PASS TNXB 7148 broad.mit.edu 37 6 32029219 32029219 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:32029219G>A uc003nzl.2 - 21 7649 c.7447C>T c.(7447-7449)CAC>TAC p.H2483Y NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2543 Fibronectin type-III 17. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 CGCCCCTCGTGGAGGCCATAC 0.672 19 37 --- --- --- --- PASS TNXB 7148 broad.mit.edu 37 6 32030096 32030096 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:32030096G>T uc003nzl.2 - 20 7208 c.7006C>A c.(7006-7008)CAG>AAG p.Q2336K NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2398 Fibronectin type-III 16. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 TTCTTGTACTGGACCAGGAAG 0.602 17 36 --- --- --- --- PASS TNXB 7148 broad.mit.edu 37 6 32038048 32038048 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:32038048C>T uc003nzl.2 - 14 5336 c.5134G>A c.(5134-5136)GAC>AAC p.D1712N NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 1794 Fibronectin type-III 10. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 TGGGGCCCGTCTTTGTCCTTG 0.622 14 10 --- --- --- --- PASS TNXB 7148 broad.mit.edu 37 6 32063503 32063503 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:32063503G>A uc003nzl.2 - 3 2329 c.2127C>T c.(2125-2127)TTC>TTT p.F709F NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 709 EGF-like 18. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 CAGGGCCTCGGAAGCCCTCTA 0.667 10 17 --- --- --- --- PASS BTNL2 56244 broad.mit.edu 37 6 32372866 32372866 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:32372866C>T uc003obg.1 - 2 277 c.277G>A c.(277-279)GGC>AGC p.G93S BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron NM_019602 NP_062548 Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 93 Ig-like V-type 1.|Extracellular (Potential). integral to membrane central_nervous_system(1) 1 TCTACCCAGCCTCTGTACTCC 0.532 36 78 --- --- --- --- PASS COL11A2 1302 broad.mit.edu 37 6 33137858 33137858 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:33137858C>T uc003ocx.1 - 49 3830 c.3602G>A c.(3601-3603)GGA>GAA p.G1201E COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G1115E|COL11A2_uc003ocz.1_Missense_Mutation_p.G1094E NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 1201 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 CCCAACACCTCCTGGGGGACC 0.562 21 39 --- --- --- --- PASS VPS52 6293 broad.mit.edu 37 6 33232566 33232566 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:33232566G>A uc003odm.1 - 13 1603 c.1393C>T c.(1393-1395)CTG>TTG p.L465L VPS52_uc003odn.1_Silent_p.L276L NM_022553 NP_072047 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 465 protein transport endosome membrane|Golgi apparatus ovary(4)|skin(1) 5 GACCTGTCCAGGGCAGGAACA 0.498 41 94 --- --- --- --- PASS ZBTB9 221504 broad.mit.edu 37 6 33423652 33423652 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:33423652C>T uc003oeq.2 + 2 1043 c.775C>T c.(775-777)CCC>TCC p.P259S NM_152735 NP_689948 Q96C00 ZBTB9_HUMAN zinc finger and BTB domain containing 9 259 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GACTGCTACTCCCCGAAAGCT 0.587 19 39 --- --- --- --- PASS PACSIN1 29993 broad.mit.edu 37 6 34499404 34499404 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:34499404C>T uc003ojo.2 + 9 1271 c.1065C>T c.(1063-1065)CCC>CCT p.P355P PACSIN1_uc003ojp.2_Silent_p.P355P NM_020804 NP_065855 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in 355 endocytosis protein kinase activity 0 GAGGCCAGCCCTACGCCACCG 0.627 37 48 --- --- --- --- PASS STK38 11329 broad.mit.edu 37 6 36483159 36483159 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:36483159T>A uc003omg.2 - 6 1213 c.625A>T c.(625-627)ATC>TTC p.I209F STK38_uc003omh.2_Missense_Mutation_p.I209F|STK38_uc003omi.2_Missense_Mutation_p.I209F NM_007271 NP_009202 Q15208 STK38_HUMAN serine/threonine kinase 38 209 Protein kinase. intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 6 TCTCTGTGGATGAATCCAAGT 0.433 18 50 --- --- --- --- PASS PIM1 5292 broad.mit.edu 37 6 37138791 37138791 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:37138791C>T uc003onk.2 + 3 654 c.224C>T c.(223-225)TCC>TTC p.S75F PIM1_uc011dtw.1_5'Flank NM_002648 NP_002639 P11309 PIM1_HUMAN non-specific serine/threonine protein kinase 166 Protein kinase. cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation cytoplasm|nucleus|plasma membrane ATP binding|manganese ion binding|protein binding|protein binding|protein serine/threonine kinase activity|transcription factor binding large_intestine(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(102;0.241) Adenosine monophosphate(DB00131) GACCGGATTTCCGACTGGGGA 0.642 T BCL6 NHL 14 32 --- --- --- --- PASS PIM1 5292 broad.mit.edu 37 6 37140804 37140804 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:37140804C>T uc003onk.2 + 5 1070 c.640C>T c.(640-642)CGC>TGC p.R214C PIM1_uc011dtw.1_Silent_p.S82S NM_002648 NP_002639 P11309 PIM1_HUMAN non-specific serine/threonine protein kinase 305 Protein kinase. cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation cytoplasm|nucleus|plasma membrane ATP binding|manganese ion binding|protein binding|protein binding|protein serine/threonine kinase activity|transcription factor binding large_intestine(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(102;0.241) Adenosine monophosphate(DB00131) AGAGTGGATCCGCTACCATCG 0.517 T BCL6 NHL 26 36 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38790619 38790619 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:38790619T>A uc003ooe.1 + 25 3478 c.2878T>A c.(2878-2880)TTT>ATT p.F960I NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TTCAGGATCTTTTGAAGAAGC 0.338 11 12 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38790796 38790796 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:38790796G>A uc003ooe.1 + 25 3655 c.3055G>A c.(3055-3057)GAT>AAT p.D1019N NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 AGAGGACCGCGATGTGAAAGT 0.458 11 45 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38825328 38825328 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:38825328A>G uc003ooe.1 + 40 5717 c.5117A>G c.(5116-5118)CAC>CGC p.H1706R NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TTGTGGACACACGATTCAGAA 0.343 19 39 --- --- --- --- PASS KCNK16 83795 broad.mit.edu 37 6 39284636 39284636 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:39284636C>T uc003ooq.2 - 4 597 c.583G>A c.(583-585)GAG>AAG p.E195K KCNK17_uc003ooo.2_5'Flank|KCNK17_uc003oop.2_5'Flank|KCNK16_uc003oor.3_Missense_Mutation_p.E195K|KCNK16_uc010jwy.2_Missense_Mutation_p.E195K|KCNK16_uc011dtz.1_Missense_Mutation_p.E195K NM_032115 NP_115491 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 195 integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(1) 3 CTCCAGCCCTCCACATGGCTG 0.542 52 115 --- --- --- --- PASS LRFN2 57497 broad.mit.edu 37 6 40399601 40399601 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:40399601G>A uc003oph.1 - 2 1717 c.1252C>T c.(1252-1254)CCC>TCC p.P418S NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 418 Fibronectin type-III.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) GGGCTTTTGGGAGGCTCTCCG 0.652 9 21 --- --- --- --- PASS UBR2 23304 broad.mit.edu 37 6 42603165 42603165 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:42603165C>T uc011dur.1 + 14 1555 c.1555C>T c.(1555-1557)CCA>TCA p.P519S UBR2_uc011dus.1_Missense_Mutation_p.P164S|UBR2_uc010jxv.1_Missense_Mutation_p.P23S|UBR2_uc003osh.2_RNA NM_015255 NP_056070 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 519 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding ovary(3)|pancreas(1) 4 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) GGGAATGGATCCAATTACACG 0.318 17 29 --- --- --- --- PASS PTK7 5754 broad.mit.edu 37 6 43099815 43099815 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:43099815C>T uc003oub.1 + 6 1072 c.874C>T c.(874-876)CGG>TGG p.R292W PTK7_uc003ouc.1_Missense_Mutation_p.R292W|PTK7_uc003oud.1_Missense_Mutation_p.R292W|PTK7_uc003oue.1_Missense_Mutation_p.R292W|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Missense_Mutation_p.R300W|PTK7_uc010jyj.1_5'Flank|PTK7_uc003oua.2_Missense_Mutation_p.R292W NM_002821 NP_002812 Q13308 PTK7_HUMAN PTK7 protein tyrosine kinase 7 isoform a 292 Ig-like C2-type 3.|Extracellular (Potential). actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ovary(2)|large_intestine(1) 3 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) GACCCAGGTCCGGCCACGCAA 0.617 10 22 --- --- --- --- PASS CUL9 23113 broad.mit.edu 37 6 43172102 43172102 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:43172102G>T uc003ouk.2 + 21 4239 c.4164G>T c.(4162-4164)GCG>GCT p.A1388A CUL9_uc003oul.2_Silent_p.A1388A|CUL9_uc010jyk.2_Silent_p.A540A NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 1388 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 TTTCAGATGCGGAAGGCGTGA 0.537 5 77 --- --- --- --- PASS TTBK1 84630 broad.mit.edu 37 6 43250759 43250759 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:43250759G>A uc003ouq.1 + 14 2560 c.2281G>A c.(2281-2283)GAA>AAA p.E761K NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 761 Glu-rich.|Potential. cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) agaggaggaggaagaagagga 0.259 6 14 --- --- --- --- PASS ZNF318 24149 broad.mit.edu 37 6 43316338 43316338 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:43316338C>T uc003oux.2 - 6 2874 c.2796G>A c.(2794-2796)AGG>AGA p.R932R ZNF318_uc003ouw.2_RNA NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 932 Potential. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CATCCTTCTCCCTTCGTTTCT 0.443 18 28 --- --- --- --- PASS ZNF318 24149 broad.mit.edu 37 6 43316339 43316339 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:43316339C>T uc003oux.2 - 6 2873 c.2795G>A c.(2794-2796)AGG>AAG p.R932K ZNF318_uc003ouw.2_RNA NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 932 Potential. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) ATCCTTCTCCCTTCGTTTCTT 0.438 18 28 --- --- --- --- PASS GTPBP2 54676 broad.mit.edu 37 6 43592737 43592737 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:43592737G>A uc003ovs.2 - 6 805 c.768C>T c.(766-768)ATC>ATT p.I256I GTPBP2_uc010jyv.2_Silent_p.I168I|GTPBP2_uc003ovt.1_Silent_p.I256I NM_019096 NP_061969 Q9BX10 GTPB2_HUMAN GTP binding protein 2 256 GTP binding|GTPase activity liver(1)|skin(1) 2 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) CGATGAAGGTGATCATCTTGG 0.592 18 40 --- --- --- --- PASS CAPN11 11131 broad.mit.edu 37 6 44150729 44150729 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:44150729G>A uc003owt.1 + 20 2028 c.1990G>A c.(1990-1992)GAG>AAG p.E664K CAPN11_uc011dvn.1_Intron NM_007058 NP_008989 Q9UMQ6 CAN11_HUMAN calpain 11 664 Domain IV.|2 (Potential).|EF-hand 2. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity ovary(1)|breast(1) 2 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GAACTCCTATGAGATGCGCCT 0.537 6 18 --- --- --- --- PASS AARS2 57505 broad.mit.edu 37 6 44272836 44272836 + Missense_Mutation SNP C T T rs146512155 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:44272836C>T uc010jza.1 - 11 1537 c.1534G>A c.(1534-1536)GAC>AAC p.D512N SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 512 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding ovary(1) 1 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) TTGGGGCTGTCGTCAGTTGGG 0.607 OREG0017473 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 61 --- --- --- --- PASS RUNX2 860 broad.mit.edu 37 6 45515016 45515016 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:45515016G>A uc011dvx.1 + 9 1750 c.1540G>A c.(1540-1542)GAT>AAT p.D514N RUNX2_uc011dvy.1_Missense_Mutation_p.D492N|RUNX2_uc003oxt.2_Missense_Mutation_p.D500N NM_001024630 NP_001019801 Q13950 RUNX2_HUMAN runt-related transcription factor 2 isoform a 514 Pro/Ser/Thr-rich. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 TGGCAGAATGGATGAATCTGT 0.443 21 36 --- --- --- --- PASS ENPP4 22875 broad.mit.edu 37 6 46107761 46107761 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:46107761C>T uc003oxy.2 + 2 700 c.441C>T c.(439-441)ATC>ATT p.I147I NM_014936 NP_055751 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 147 Extracellular (Potential). integral to membrane hydrolase activity ovary(3)|skin(1) 4 ACGATACCATCTCTTCCTATT 0.413 30 81 --- --- --- --- PASS ENPP4 22875 broad.mit.edu 37 6 46107950 46107950 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:46107950A>G uc003oxy.2 + 2 889 c.630A>G c.(628-630)ATA>ATG p.I210M NM_014936 NP_055751 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 210 Extracellular (Potential). integral to membrane hydrolase activity ovary(3)|skin(1) 4 TGAAAAAAATAGATGATCTTA 0.398 28 72 --- --- --- --- PASS ENPP4 22875 broad.mit.edu 37 6 46111176 46111176 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:46111176G>A uc003oxy.2 + 4 1420 c.1161G>A c.(1159-1161)GGG>GGA p.G387G NM_014936 NP_055751 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 387 Extracellular (Potential). integral to membrane hydrolase activity ovary(3)|skin(1) 4 CCAATAATGGGACCTTTGGTC 0.423 30 55 --- --- --- --- PASS GPR116 221395 broad.mit.edu 37 6 46826469 46826469 + Silent SNP G A A rs151037028 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:46826469G>A uc003oyo.3 - 17 3460 c.3171C>T c.(3169-3171)ATC>ATT p.I1057I GPR116_uc011dwj.1_Silent_p.I612I|GPR116_uc011dwk.1_Silent_p.I486I|GPR116_uc003oyp.3_Silent_p.I915I|GPR116_uc003oyq.3_Silent_p.I1057I|GPR116_uc010jzi.1_Silent_p.I729I NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 1057 Helical; Name=2; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.I1057I(1) central_nervous_system(1)|skin(1) 2 Lung(136;0.192) GGGAGGCAGCGATATTCACTA 0.537 16 27 --- --- --- --- PASS GPR116 221395 broad.mit.edu 37 6 46826629 46826629 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:46826629G>A uc003oyo.3 - 17 3300 c.3011C>T c.(3010-3012)CCT>CTT p.P1004L GPR116_uc011dwj.1_Missense_Mutation_p.P559L|GPR116_uc011dwk.1_Missense_Mutation_p.P433L|GPR116_uc003oyp.3_Missense_Mutation_p.P862L|GPR116_uc003oyq.3_Missense_Mutation_p.P1004L|GPR116_uc010jzi.1_Missense_Mutation_p.P676L NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 1004 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|skin(1) 2 Lung(136;0.192) GAGAGAACTAGGATCTGGGGA 0.488 8 32 --- --- --- --- PASS GPR116 221395 broad.mit.edu 37 6 46826655 46826655 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:46826655G>A uc003oyo.3 - 17 3274 c.2985C>T c.(2983-2985)ATC>ATT p.I995I GPR116_uc011dwj.1_Silent_p.I550I|GPR116_uc011dwk.1_Silent_p.I424I|GPR116_uc003oyp.3_Silent_p.I853I|GPR116_uc003oyq.3_Silent_p.I995I|GPR116_uc010jzi.1_Silent_p.I667I NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 995 GPS.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|skin(1) 2 Lung(136;0.192) GGGACATGAGGATGGAGAATG 0.502 9 28 --- --- --- --- PASS TNFRSF21 27242 broad.mit.edu 37 6 47253992 47253992 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:47253992G>A uc003oyv.2 - 2 869 c.436C>T c.(436-438)CCC>TCC p.P146S NM_014452 NP_055267 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, 146 Extracellular (Potential).|TNFR-Cys 3. cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity 0 Lung(136;0.189) ACCGTATGGGGGGCACAGGTA 0.547 47 94 --- --- --- --- PASS C6orf138 442213 broad.mit.edu 37 6 47847666 47847666 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:47847666C>T uc011dwm.1 - 3 948 c.863G>A c.(862-864)GGA>GAA p.G288E C6orf138_uc011dwn.1_Missense_Mutation_p.G52E NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 305 Helical; (Potential).|SSD. integral to membrane hedgehog receptor activity central_nervous_system(1) 1 TCCTTTAGTTCCATGACCTAA 0.363 6 10 --- --- --- --- PASS RHAG 6005 broad.mit.edu 37 6 49586917 49586917 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:49586917G>T uc003ozk.3 - 2 378 c.316C>A c.(316-318)CAG>AAG p.Q106K RHAG_uc010jzl.2_Missense_Mutation_p.Q106K|RHAG_uc010jzm.2_Missense_Mutation_p.Q106K NM_000324 NP_000315 Q02094 RHAG_HUMAN Rh-associated glycoprotein 106 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) TTAAATTTCTGTCCCTGGCTT 0.318 21 35 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51524180 51524180 + Missense_Mutation SNP C T T rs148300854 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:51524180C>T uc003pah.1 - 61 11020 c.10744G>A c.(10744-10746)GAA>AAA p.E3582K NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3582 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) GTTAGTCTTTCGAGTATTACT 0.438 21 35 --- --- --- --- PASS IL17F 112744 broad.mit.edu 37 6 52101843 52101843 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:52101843C>T uc003pam.1 - 3 449 c.378G>A c.(376-378)GAG>GAA p.E126E IL17F_uc003pal.1_Silent_p.E72E NM_052872 NP_443104 Q96PD4 IL17F_HUMAN interleukin 17F precursor 126 cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|cytokine binding|protein homodimerization activity ovary(1) 1 Lung NSC(77;0.116) CGACCAGGGTCTCTTGCTGGA 0.552 15 36 --- --- --- --- PASS TRAM2 9697 broad.mit.edu 37 6 52370924 52370924 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:52370924G>A uc003paq.2 - 8 786 c.637C>T c.(637-639)CTG>TTG p.L213L EFHC1_uc011dwv.1_Intron|TRAM2_uc003par.1_RNA NM_012288 NP_036420 Q15035 TRAM2_HUMAN translocation-associated membrane protein 2 213 TLC.|Helical; (Potential). collagen biosynthetic process|protein transport|transmembrane transport integral to membrane protein binding 0 Lung NSC(77;0.109) ATCAGGCCCAGGCGGCTCAGG 0.537 21 30 --- --- --- --- PASS GFRAL 389400 broad.mit.edu 37 6 55214924 55214924 + Silent SNP A C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:55214924A>C uc003pcm.1 + 4 437 c.351A>C c.(349-351)CTA>CTC p.L117L NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 117 Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AATGGAATCTAACTACACGTT 0.299 8 21 --- --- --- --- PASS GFRAL 389400 broad.mit.edu 37 6 55223928 55223928 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:55223928C>T uc003pcm.1 + 6 1030 c.944C>T c.(943-945)TCA>TTA p.S315L NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 315 Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CATAGAAAATCATGTTTCAGT 0.284 19 27 --- --- --- --- PASS HMGCLL1 54511 broad.mit.edu 37 6 55406863 55406863 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:55406863C>T uc003pcn.2 - 3 433 c.274G>A c.(274-276)GAA>AAA p.E92K HMGCLL1_uc003pco.2_Missense_Mutation_p.E62K|HMGCLL1_uc010jzx.2_5'UTR|HMGCLL1_uc011dxc.1_Missense_Mutation_p.E62K|HMGCLL1_uc011dxd.1_Missense_Mutation_p.E62K|HMGCLL1_uc011dxe.1_Missense_Mutation_p.E62K|HMGCLL1_uc003pcp.2_Missense_Mutation_p.E62K NM_019036 NP_061909 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-Coenzyme A 92 hydroxymethylglutaryl-CoA lyase activity|metal ion binding skin(2)|ovary(1)|pancreas(1) 4 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) ACTACCTTTTCATTCTGCAAT 0.313 5 15 --- --- --- --- PASS DST 667 broad.mit.edu 37 6 56368827 56368827 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:56368827C>T uc003pdf.2 - 72 13205 c.13177G>A c.(13177-13179)GAA>AAA p.E4393K DST_uc003pcz.3_Missense_Mutation_p.E4215K|DST_uc011dxj.1_Missense_Mutation_p.E4244K|DST_uc011dxk.1_Missense_Mutation_p.E4255K|DST_uc003pcy.3_Missense_Mutation_p.E3889K NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 6301 Spectrin 14. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTGACAGTTTCGAGATCTGTT 0.418 16 37 --- --- --- --- PASS KIAA1586 57691 broad.mit.edu 37 6 56917868 56917868 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:56917868C>T uc003pdj.2 + 4 741 c.571C>T c.(571-573)CCT>TCT p.P191S KIAA1586_uc011dxm.1_Missense_Mutation_p.P164S NM_020931 NP_065982 Q9HCI6 K1586_HUMAN hypothetical protein LOC57691 191 nucleic acid binding 0 Lung NSC(77;0.0969) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TTTAGTAACCCCTAATGGCAG 0.368 15 44 --- --- --- --- PASS KIAA1586 57691 broad.mit.edu 37 6 56917869 56917869 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:56917869C>T uc003pdj.2 + 4 742 c.572C>T c.(571-573)CCT>CTT p.P191L KIAA1586_uc011dxm.1_Missense_Mutation_p.P164L NM_020931 NP_065982 Q9HCI6 K1586_HUMAN hypothetical protein LOC57691 191 nucleic acid binding 0 Lung NSC(77;0.0969) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TTAGTAACCCCTAATGGCAGT 0.373 15 46 --- --- --- --- PASS PRIM2 5558 broad.mit.edu 37 6 57512508 57512508 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:57512508C>T uc003pdx.2 + 15 1423 c.1336C>T c.(1336-1338)CAG>TAG p.Q446* NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 446 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) TCATCCTAATCATTTCTTTTG 0.353 23 115 --- --- --- --- PASS PRIM2 5558 broad.mit.edu 37 6 57512648 57512648 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:57512648C>T uc003pdx.2 + 15 1563 c.1476C>T c.(1474-1476)TCC>TCT p.S492S NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 492 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) CTTTAAATTCCTCTCTGGAAA 0.398 54 432 --- --- --- --- PASS KHDRBS2 202559 broad.mit.edu 37 6 62442587 62442587 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:62442587C>T uc003peg.2 - 7 1140 c.893G>A c.(892-894)AGT>AAT p.S298N NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 298 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) AATGCCTTACCTTTGTGTTTG 0.373 28 47 --- --- --- --- PASS KHDRBS2 202559 broad.mit.edu 37 6 62611264 62611264 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:62611264C>T uc003peg.2 - 5 743 c.496G>A c.(496-498)GAA>AAA p.E166K NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 166 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) TGACGAATTTCATCATTGTAG 0.398 15 47 --- --- --- --- PASS LGSN 51557 broad.mit.edu 37 6 63990524 63990524 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:63990524G>A uc003peh.2 - 4 966 c.932C>T c.(931-933)TCA>TTA p.S311L LGSN_uc003pei.2_Intron NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase 311 glutamine biosynthetic process glutamate-ammonia ligase activity skin(2) 2 L-Glutamic Acid(DB00142) CAAAATCCCTGAATCACAAAA 0.418 22 39 --- --- --- --- PASS PHF3 23469 broad.mit.edu 37 6 64394342 64394342 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:64394342G>A uc003pep.1 + 3 745 c.719G>A c.(718-720)TGT>TAT p.C240Y PHF3_uc010kaf.1_Missense_Mutation_p.C240Y|PHF3_uc003pem.2_Missense_Mutation_p.C193Y|PHF3_uc010kag.1_Missense_Mutation_p.C152Y|PHF3_uc010kah.1_Missense_Mutation_p.C54Y|PHF3_uc003pen.2_Missense_Mutation_p.C152Y|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Missense_Mutation_p.C240Y NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 240 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AAGCATAAGTGTAATAATCCG 0.348 28 57 --- --- --- --- PASS COL19A1 1310 broad.mit.edu 37 6 70637811 70637811 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:70637811C>T uc003pfc.1 + 5 394 c.277C>T c.(277-279)CCC>TCC p.P93S COL19A1_uc010kam.1_5'UTR NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 93 TSP N-terminal. cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 TAAGATATTTCCCAAAGGCCT 0.413 20 55 --- --- --- --- PASS COL19A1 1310 broad.mit.edu 37 6 70639419 70639419 + Missense_Mutation SNP C T T rs112596596 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:70639419C>T uc003pfc.1 + 6 610 c.493C>T c.(493-495)CCT>TCT p.P165S COL19A1_uc010kam.1_Missense_Mutation_p.P61S NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 165 TSP N-terminal. cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 AGAACTCCGTCCTTTGTTTGA 0.393 13 35 --- --- --- --- PASS COL19A1 1310 broad.mit.edu 37 6 70639420 70639420 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:70639420C>T uc003pfc.1 + 6 611 c.494C>T c.(493-495)CCT>CTT p.P165L COL19A1_uc010kam.1_Missense_Mutation_p.P61L NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 165 TSP N-terminal. cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 GAACTCCGTCCTTTGTTTGAT 0.393 13 35 --- --- --- --- PASS COL9A1 1297 broad.mit.edu 37 6 70935639 70935639 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:70935639G>A uc003pfg.3 - 37 2736 c.2577C>T c.(2575-2577)CTC>CTT p.L859L COL9A1_uc003pfe.3_Silent_p.L408L|COL9A1_uc003pff.3_Silent_p.L616L NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 859 Triple-helical region (COL1). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 ACTTACCTGGGAGACCTATAG 0.423 17 41 --- --- --- --- PASS SMAP1 60682 broad.mit.edu 37 6 71567878 71567878 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:71567878C>T uc003pfr.2 + 10 1463 c.1215C>T c.(1213-1215)CCC>CCT p.P405P SMAP1_uc003pfs.2_Silent_p.P378P|SMAP1_uc010kao.2_Silent_p.P378P|SMAP1_uc010kap.2_Silent_p.P395P NM_001044305 NP_001037770 Q8IYB5 SMAP1_HUMAN stromal membrane-associated GTPase-activating 405 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding 0 TGGGTGCACCCCAGAGTAAGT 0.522 13 25 --- --- --- --- PASS RIMS1 22999 broad.mit.edu 37 6 72957740 72957740 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:72957740G>A uc003pga.2 + 12 2228 c.2151G>A c.(2149-2151)CAG>CAA p.Q717Q RIMS1_uc011dyb.1_Silent_p.Q343Q|RIMS1_uc003pgc.2_Silent_p.Q343Q|RIMS1_uc010kaq.2_Silent_p.Q191Q|RIMS1_uc011dyc.1_Silent_p.Q191Q|RIMS1_uc010kar.2_Silent_p.Q110Q|RIMS1_uc011dyd.1_Silent_p.Q176Q|RIMS1_uc003pgf.2_5'Flank|RIMS1_uc003pgg.2_5'Flank|RIMS1_uc003pgi.2_5'Flank|RIMS1_uc003pgh.2_5'Flank|RIMS1_uc003pgd.2_5'Flank|RIMS1_uc003pge.2_5'Flank|RIMS1_uc003pgb.3_Silent_p.Q343Q|RIMS1_uc010kas.1_Silent_p.Q176Q NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 717 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) TTGAATCTCAGAAGATGGAAA 0.328 20 39 --- --- --- --- PASS RIMS1 22999 broad.mit.edu 37 6 72968786 72968786 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:72968786G>A uc003pga.2 + 18 3102 c.3025G>A c.(3025-3027)GAT>AAT p.D1009N RIMS1_uc011dyb.1_Missense_Mutation_p.D634N|RIMS1_uc003pgc.2_Missense_Mutation_p.D635N|RIMS1_uc010kaq.2_Missense_Mutation_p.D482N|RIMS1_uc011dyc.1_Missense_Mutation_p.D483N|RIMS1_uc010kar.2_Missense_Mutation_p.D402N|RIMS1_uc011dyd.1_Missense_Mutation_p.D468N|RIMS1_uc003pgf.2_Missense_Mutation_p.D225N|RIMS1_uc003pgg.2_Missense_Mutation_p.D226N|RIMS1_uc003pgi.2_Missense_Mutation_p.D225N|RIMS1_uc003pgh.2_Missense_Mutation_p.D225N|RIMS1_uc003pgd.2_Missense_Mutation_p.D226N|RIMS1_uc003pge.2_Missense_Mutation_p.D226N|RIMS1_uc011dye.1_5'UTR|RIMS1_uc011dyf.1_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.D635N|RIMS1_uc010kas.1_Missense_Mutation_p.D468N NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1009 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) CAGAGATGTGGATAGTCAGTA 0.363 33 34 --- --- --- --- PASS RIMS1 22999 broad.mit.edu 37 6 73108740 73108740 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:73108740C>T uc003pga.2 + 33 4881 c.4804C>T c.(4804-4806)CCT>TCT p.P1602S RIMS1_uc011dyb.1_Missense_Mutation_p.P999S|RIMS1_uc003pgc.2_Missense_Mutation_p.P1017S|RIMS1_uc010kaq.2_Missense_Mutation_p.P922S|RIMS1_uc011dyc.1_Missense_Mutation_p.P727S|RIMS1_uc010kar.2_Missense_Mutation_p.P670S|RIMS1_uc011dyd.1_Missense_Mutation_p.P736S|RIMS1_uc003pgf.2_Missense_Mutation_p.P602S|RIMS1_uc003pgg.2_Missense_Mutation_p.P498S|RIMS1_uc003pgi.2_Missense_Mutation_p.P418S|RIMS1_uc003pgh.2_Missense_Mutation_p.P469S|RIMS1_uc003pgd.2_Missense_Mutation_p.P668S|RIMS1_uc003pge.2_Missense_Mutation_p.P642S|RIMS1_uc011dye.1_Missense_Mutation_p.P408S|RIMS1_uc011dyf.1_Missense_Mutation_p.P226S|RIMS1_uc011dyg.1_Missense_Mutation_p.P129S NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1602 C2 2. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) AACCCTTGATCCTTTGTATCA 0.363 22 40 --- --- --- --- PASS KCNQ5 56479 broad.mit.edu 37 6 73713679 73713679 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:73713679C>T uc003pgk.2 + 2 794 c.447C>T c.(445-447)ATC>ATT p.I149I KCNQ5_uc003pgj.3_Silent_p.I149I|KCNQ5_uc011dyh.1_Silent_p.I149I|KCNQ5_uc011dyi.1_Silent_p.I149I|KCNQ5_uc010kat.2_Silent_p.I149I|KCNQ5_uc011dyj.1_Silent_p.I149I|KCNQ5_uc011dyk.1_5'UTR NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 149 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TTTCTACCATCCCTGAGCACA 0.363 18 37 --- --- --- --- PASS KCNQ5 56479 broad.mit.edu 37 6 73787531 73787531 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:73787531C>T uc003pgk.2 + 5 1186 c.839C>T c.(838-840)TCG>TTG p.S280L KCNQ5_uc003pgj.3_Missense_Mutation_p.S280L|KCNQ5_uc011dyh.1_Missense_Mutation_p.S280L|KCNQ5_uc011dyi.1_Missense_Mutation_p.S280L|KCNQ5_uc010kat.2_Missense_Mutation_p.S280L|KCNQ5_uc011dyj.1_Missense_Mutation_p.S280L|KCNQ5_uc011dyk.1_Missense_Mutation_p.S39L NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 280 Helical; Name=Segment S5; (Potential). protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) CTTATTTTTTCGTCTTTCCTT 0.338 13 17 --- --- --- --- PASS CD109 135228 broad.mit.edu 37 6 74477809 74477809 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:74477809G>A uc003php.2 + 14 1954 c.1529G>A c.(1528-1530)GGA>GAA p.G510E CD109_uc010kaz.2_Missense_Mutation_p.G510E|CD109_uc003phq.2_Missense_Mutation_p.G510E|CD109_uc010kba.2_Missense_Mutation_p.G433E NM_133493 NP_598000 Q6YHK3 CD109_HUMAN CD109 antigen isoform 1 precursor 510 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity large_intestine(2)|ovary(2) 4 GTGGCTGTAGGAAAACAAAAT 0.358 15 35 --- --- --- --- PASS FILIP1 27145 broad.mit.edu 37 6 76023417 76023417 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:76023417G>A uc003pia.2 - 5 2504 c.2131C>T c.(2131-2133)CGG>TGG p.R711W FILIP1_uc003phy.1_Missense_Mutation_p.R711W|FILIP1_uc003phz.2_Missense_Mutation_p.R612W|FILIP1_uc010kbe.2_Missense_Mutation_p.R714W|FILIP1_uc003pib.1_Missense_Mutation_p.R463W NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 711 Potential. skin(3)|ovary(1) 4 TCTTCCAACCGAAATCTGTGT 0.413 41 93 --- --- --- --- PASS FILIP1 27145 broad.mit.edu 37 6 76023520 76023520 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:76023520G>A uc003pia.2 - 5 2401 c.2028C>T c.(2026-2028)TTC>TTT p.F676F FILIP1_uc003phy.1_Silent_p.F676F|FILIP1_uc003phz.2_Silent_p.F577F|FILIP1_uc010kbe.2_Silent_p.F679F|FILIP1_uc003pib.1_Silent_p.F428F NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 676 Potential. skin(3)|ovary(1) 4 GTTGAGAGAGGAAGTTAGCCT 0.433 43 115 --- --- --- --- PASS MYO6 4646 broad.mit.edu 37 6 76589588 76589588 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:76589588C>T uc003pih.1 + 21 2408 c.2129C>T c.(2128-2130)TCA>TTA p.S710L MYO6_uc003pig.1_Missense_Mutation_p.S710L|MYO6_uc003pii.1_Missense_Mutation_p.S710L NM_004999 NP_004990 Q9UM54 MYO6_HUMAN myosin VI 710 Myosin head-like. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding kidney(1)|pancreas(1) 2 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) TCACGAGCTTCATTTCATGAA 0.408 26 44 --- --- --- --- PASS LCA5 167691 broad.mit.edu 37 6 80201433 80201433 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:80201433C>T uc003pix.2 - 6 1405 c.970G>A c.(970-972)GAT>AAT p.D324N LCA5_uc003piy.2_Missense_Mutation_p.D324N|LCA5_uc011dyq.1_RNA NM_001122769 NP_001116241 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 324 protein transport cilium axoneme|microtubule basal body protein binding 0 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) TCTGCAAAATCACTCTGGCAT 0.299 22 73 --- --- --- --- PASS ME1 4199 broad.mit.edu 37 6 83921765 83921765 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:83921765G>A uc003pjy.2 - 14 1703 c.1597C>T c.(1597-1599)CCG>TCG p.P533S ME1_uc011dzb.1_Missense_Mutation_p.P458S|ME1_uc011dzc.1_Missense_Mutation_p.P367S NM_002395 NP_002386 P48163 MAOX_HUMAN cytosolic malic enzyme 1 533 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) TTGTTTTGCGGTTCAGGATAA 0.343 19 43 --- --- --- --- PASS TBX18 9096 broad.mit.edu 37 6 85446757 85446757 + Silent SNP C A A rs139629340 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:85446757C>A uc003pkl.1 - 8 1470 c.1470G>T c.(1468-1470)TCG>TCT p.S490S TBX18_uc010kbq.1_Intron NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 490 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) GGGACATTCCCGAAATCTGCA 0.532 5 136 --- --- --- --- PASS SNX14 57231 broad.mit.edu 37 6 86227558 86227558 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:86227558G>A uc003pkr.2 - 23 2377 c.2184C>T c.(2182-2184)TTC>TTT p.F728F SNX14_uc003pkp.2_Silent_p.F591F|SNX14_uc003pkq.2_Silent_p.F334F|SNX14_uc011dzg.1_Silent_p.F676F|SNX14_uc003pks.2_Silent_p.F675F|SNX14_uc003pkt.2_Silent_p.F719F NM_153816 NP_722523 Q9Y5W7 SNX14_HUMAN sorting nexin 14 isoform a 728 cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity 0 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) AAGAATTAATGAAATTCATGA 0.343 12 36 --- --- --- --- PASS SNX14 57231 broad.mit.edu 37 6 86256914 86256914 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:86256914C>T uc003pkr.2 - 12 1217 c.1024G>A c.(1024-1026)GAG>AAG p.E342K SNX14_uc003pkp.2_Missense_Mutation_p.E205K|SNX14_uc003pkq.2_5'UTR|SNX14_uc011dzg.1_Missense_Mutation_p.E290K|SNX14_uc003pks.2_Missense_Mutation_p.E298K|SNX14_uc003pkt.2_Missense_Mutation_p.E342K NM_153816 NP_722523 Q9Y5W7 SNX14_HUMAN sorting nexin 14 isoform a 342 RGS. cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity 0 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) TCTTGTTGCTCTCTGATTTGC 0.348 11 29 --- --- --- --- PASS SPACA1 81833 broad.mit.edu 37 6 88773909 88773909 + Missense_Mutation SNP T G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:88773909T>G uc003pmn.2 + 6 820 c.703T>G c.(703-705)TTC>GTC p.F235V NM_030960 NP_112222 Q9HBV2 SACA1_HUMAN sperm acrosome associated 1 precursor 235 Helical; (Potential). integral to membrane 0 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;0.11) ATTTATAATTTTCTTATTGAT 0.388 24 38 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90420499 90420499 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:90420499G>A uc003pnn.1 - 50 7782 c.7666C>T c.(7666-7668)CAT>TAT p.H2556Y NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 2556 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GCTTCCAAATGAATTTGTATG 0.303 11 10 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90450000 90450000 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:90450000G>A uc003pnn.1 - 32 4662 c.4546C>T c.(4546-4548)CGT>TGT p.R1516C NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 1516 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GCTAGAATACGAAATTTTTTC 0.408 17 52 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90499892 90499892 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:90499892G>A uc003pnn.1 - 6 1200 c.1084C>T c.(1084-1086)CAG>TAG p.Q362* MDN1_uc003pnp.1_Nonsense_Mutation_p.Q362* NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 362 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CTGTCAGTCTGATCTCCAAGC 0.378 41 73 --- --- --- --- PASS GJA10 84694 broad.mit.edu 37 6 90605530 90605530 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:90605530G>A uc011eaa.1 + 1 1343 c.1343G>A c.(1342-1344)GGA>GAA p.G448E NM_032602 NP_115991 Q969M2 CXA10_HUMAN gap junction protein, alpha 10 448 Cytoplasmic (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) AGTGACTCAGGAAGCTCTGGT 0.527 20 63 --- --- --- --- PASS BACH2 60468 broad.mit.edu 37 6 90642522 90642522 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:90642522G>T uc011eab.1 - 9 2940 c.2131C>A c.(2131-2133)CAG>AAG p.Q711K BACH2_uc003pnw.2_Missense_Mutation_p.Q711K NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 711 nucleus protein dimerization activity|sequence-specific DNA binding ovary(3)|pancreas(1)|lung(1)|skin(1) 6 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) CAAACTTCCTGGGAAAGGCAG 0.542 4 43 --- --- --- --- PASS EPHA7 2045 broad.mit.edu 37 6 93956676 93956676 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:93956676G>A uc003poe.2 - 15 2801 c.2560C>T c.(2560-2562)CGT>TGT p.R854C EPHA7_uc003pof.2_Missense_Mutation_p.R849C|EPHA7_uc011eac.1_Missense_Mutation_p.R850C NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 854 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) GCTGGTAAACGATAACCTTCT 0.393 8 19 --- --- --- --- PASS EPHA7 2045 broad.mit.edu 37 6 94120501 94120501 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:94120501G>A uc003poe.2 - 3 791 c.550C>T c.(550-552)CTT>TTT p.L184F EPHA7_uc003pof.2_Missense_Mutation_p.L184F|EPHA7_uc011eac.1_Missense_Mutation_p.L184F|EPHA7_uc003pog.3_Missense_Mutation_p.L184F NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 184 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TGAAAGGCAAGATAGAATCCC 0.418 10 45 --- --- --- --- PASS EPHA7 2045 broad.mit.edu 37 6 94120690 94120690 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:94120690C>T uc003poe.2 - 3 602 c.361G>A c.(361-363)GAA>AAA p.E121K EPHA7_uc003pof.2_Missense_Mutation_p.E121K|EPHA7_uc011eac.1_Missense_Mutation_p.E121K|EPHA7_uc003pog.3_Missense_Mutation_p.E121K NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 121 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TTAAATGTTTCCTTGCAAGTT 0.368 25 36 --- --- --- --- PASS MANEA 79694 broad.mit.edu 37 6 96053795 96053795 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:96053795C>T uc003poo.1 + 5 1043 c.903C>T c.(901-903)GCC>GCT p.A301A NM_024641 NP_078917 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 301 Catalytic (Probable).|Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity ovary(2)|breast(1) 3 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) TGTTTATTGCCCTTCTGGTAG 0.378 14 36 --- --- --- --- PASS MANEA 79694 broad.mit.edu 37 6 96053988 96053988 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:96053988C>T uc003poo.1 + 5 1236 c.1096C>T c.(1096-1098)CGT>TGT p.R366C NM_024641 NP_078917 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 366 Catalytic (Probable).|Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity ovary(2)|breast(1) 3 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) TACCAGCATCCGTCCATGGAA 0.418 42 86 --- --- --- --- PASS KLHL32 114792 broad.mit.edu 37 6 97512602 97512602 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:97512602G>A uc010kcm.1 + 5 883 c.411G>A c.(409-411)CAG>CAA p.Q137Q KLHL32_uc003poy.2_Silent_p.Q137Q|KLHL32_uc011ead.1_Silent_p.Q101Q|KLHL32_uc003poz.2_Missense_Mutation_p.G8S|KLHL32_uc011eae.1_Intron|KLHL32_uc003ppa.2_RNA NM_052904 NP_443136 Q96NJ5 KLH32_HUMAN kelch-like 32 137 ovary(3)|skin(1) 4 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) ATCTCATCCAGGTATGTGAGC 0.512 9 19 --- --- --- --- PASS C6orf167 253714 broad.mit.edu 37 6 97715802 97715802 + Missense_Mutation SNP A T T rs142406880 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:97715802A>T uc003ppb.2 - 8 1040 c.774T>A c.(772-774)CAT>CAA p.H258Q C6orf167_uc011eaf.1_Missense_Mutation_p.H258Q|C6orf167_uc010kcn.1_Missense_Mutation_p.H32Q|C6orf167_uc010kco.1_Missense_Mutation_p.H32Q|C6orf167_uc003ppc.2_Missense_Mutation_p.H258Q NM_198468 NP_940870 Q6ZRQ5 MMS22_HUMAN hypothetical protein LOC253714 258 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding 0 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198) BRCA - Breast invasive adenocarcinoma(108;0.0457) GAGTTTCACAATGTTCTTCAA 0.323 3 10 --- --- --- --- PASS MCHR2 84539 broad.mit.edu 37 6 100368897 100368897 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:100368897C>T uc003pqh.1 - 6 1257 c.942G>A c.(940-942)CAG>CAA p.Q314Q MCHR2_uc003pqi.1_Silent_p.Q314Q NM_001040179 NP_001035269 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 314 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity p.Q314R(1) lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 8 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) GCAGACGTTTCTGGAAATTTC 0.438 34 63 --- --- --- --- PASS PDSS2 57107 broad.mit.edu 37 6 107595288 107595288 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:107595288C>T uc003prt.2 - 3 865 c.575G>A c.(574-576)GGA>GAA p.G192E PDSS2_uc011eak.1_Missense_Mutation_p.G56E|PDSS2_uc011eal.1_Missense_Mutation_p.G192E|PDSS2_uc003pru.2_Missense_Mutation_p.G192E|PDSS2_uc003prv.2_Missense_Mutation_p.G192E NM_020381 NP_065114 Q86YH6 DLP1_HUMAN prenyl diphosphate synthase, subunit 2 192 isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrion protein heterodimerization activity ovary(2) 2 Breast(9;0.0127) all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211) BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243) BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191) AAGAAAGTCTCCACTCAGGAT 0.413 24 58 --- --- --- --- PASS SOBP 55084 broad.mit.edu 37 6 107955308 107955308 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:107955308C>T uc003prx.2 + 6 1764 c.1260C>T c.(1258-1260)TCC>TCT p.S420S NM_018013 NP_060483 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog 420 Pro-rich. metal ion binding ovary(1) 1 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) ACCATGCCTCCAACCCCAACA 0.701 10 30 --- --- --- --- PASS SOBP 55084 broad.mit.edu 37 6 107956400 107956400 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:107956400G>A uc003prx.2 + 6 2856 c.2352G>A c.(2350-2352)GGG>GGA p.G784G NM_018013 NP_060483 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog 784 metal ion binding ovary(1) 1 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) ACCTGGACGGGGAGGCGGCCA 0.632 4 18 --- --- --- --- PASS SCML4 256380 broad.mit.edu 37 6 108041962 108041962 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:108041962C>T uc010kdf.2 - 6 1169 c.918G>A c.(916-918)AGG>AGA p.R306R SCML4_uc003prz.3_Silent_p.R248R|SCML4_uc011eam.1_Silent_p.R306R|SCML4_uc003pry.3_Silent_p.R64R|SCML4_uc003psa.3_Silent_p.R277R NM_198081 NP_932347 Q8N228 SCML4_HUMAN sex comb on midleg-like 4 306 SAM. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) AGGCTGGAGGCCTCAGCCCAG 0.587 26 44 --- --- --- --- PASS SCML4 256380 broad.mit.edu 37 6 108041963 108041963 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:108041963C>T uc010kdf.2 - 6 1168 c.917G>A c.(916-918)AGG>AAG p.R306K SCML4_uc003prz.3_Missense_Mutation_p.R248K|SCML4_uc011eam.1_Missense_Mutation_p.R306K|SCML4_uc003pry.3_Missense_Mutation_p.R64K|SCML4_uc003psa.3_Missense_Mutation_p.R277K NM_198081 NP_932347 Q8N228 SCML4_HUMAN sex comb on midleg-like 4 306 SAM. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) GGCTGGAGGCCTCAGCCCAGG 0.587 27 44 --- --- --- --- PASS ARMC2 84071 broad.mit.edu 37 6 109190081 109190081 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:109190081C>T uc003pss.3 + 4 520 c.346C>T c.(346-348)CCT>TCT p.P116S ARMC2_uc011eao.1_5'UTR NM_032131 NP_115507 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 116 binding 0 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) CTTTTCCTTTCCTAAGCCCCC 0.517 13 30 --- --- --- --- PASS AKD1 221264 broad.mit.edu 37 6 109818714 109818714 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:109818714G>A uc003ptn.2 - 38 5346 c.5269C>T c.(5269-5271)CGT>TGT p.R1757C AKD1_uc011eas.1_Missense_Mutation_p.R142C NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN adenylate kinase domain containing 1 isoform 1 1757 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity ovary(1) 1 ATATATATACGATTATGATAT 0.229 9 29 --- --- --- --- PASS WISP3 8838 broad.mit.edu 37 6 112382351 112382351 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:112382351G>A uc003pvm.2 + 3 316 c.206G>A c.(205-207)AGA>AAA p.R69K WISP3_uc003pvn.2_RNA|WISP3_uc003pvo.2_Missense_Mutation_p.R87K NM_003880 NP_003871 O95389 WISP3_HUMAN WNT1 inducible signaling pathway protein 3 69 IGFBP N-terminal. cell-cell signaling|regulation of cell growth|signal transduction extracellular region|soluble fraction growth factor activity|insulin-like growth factor binding 0 all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) AGCCTGGTGAGAGATGGCTGT 0.532 19 52 --- --- --- --- PASS LAMA4 3910 broad.mit.edu 37 6 112453986 112453986 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:112453986G>A uc003pvu.2 - 28 4112 c.3803C>T c.(3802-3804)CCA>CTA p.P1268L LAMA4_uc003pvv.2_Missense_Mutation_p.P1261L|LAMA4_uc003pvt.2_Missense_Mutation_p.P1261L NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 1268 Laminin G-like 3. 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) TAACCCATTTGGTTGTAATGT 0.328 17 37 --- --- --- --- PASS HS3ST5 222537 broad.mit.edu 37 6 114378554 114378554 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:114378554T>C uc003pwg.3 - 2 940 c.908A>G c.(907-909)AAG>AGG p.K303R uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.K303R NM_153612 NP_705840 Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 303 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding ovary(1)|pancreas(1) 2 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) CGCCAGGCACTTATTAAAGAT 0.398 19 46 --- --- --- --- PASS FAM26D 221301 broad.mit.edu 37 6 116879198 116879198 + Missense_Mutation SNP G T T rs151332485 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:116879198G>T uc003pxa.2 + 4 639 c.340G>T c.(340-342)GGG>TGG p.G114W FAM26D_uc003pwz.2_Missense_Mutation_p.G71W|FAM26D_uc010ked.2_Missense_Mutation_p.G113W NM_153036 NP_694581 Q5JW98 FA26D_HUMAN hypothetical protein LOC221301 257 integral to membrane 0 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222) CTTCATTCCCGGGAGTGAAGA 0.473 4 113 --- --- --- --- PASS GPRC6A 222545 broad.mit.edu 37 6 117114012 117114012 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:117114012G>A uc003pxj.1 - 6 2096 c.2074C>T c.(2074-2076)CCC>TCC p.P692S GPRC6A_uc003pxk.1_Missense_Mutation_p.P517S|GPRC6A_uc003pxl.1_Missense_Mutation_p.P621S NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 692 Cytoplasmic (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TGTAATTTGGGATCAAAGCTG 0.413 16 43 --- --- --- --- PASS RFX6 222546 broad.mit.edu 37 6 117232185 117232185 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:117232185G>A uc003pxm.2 + 7 823 c.760G>A c.(760-762)GGA>AGA p.G254R NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 254 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 TGTATACCAAGGATGCATTTC 0.383 21 56 --- --- --- --- PASS RFX6 222546 broad.mit.edu 37 6 117232186 117232186 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:117232186G>A uc003pxm.2 + 7 824 c.761G>A c.(760-762)GGA>GAA p.G254E NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 254 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 GTATACCAAGGATGCATTTCT 0.388 21 57 --- --- --- --- PASS RFX6 222546 broad.mit.edu 37 6 117237248 117237248 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:117237248G>A uc003pxm.2 + 8 921 c.858G>A c.(856-858)GAG>GAA p.E286E NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 286 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 ACTTTGAAGAGGTAAGAATGA 0.308 19 35 --- --- --- --- PASS ROS1 6098 broad.mit.edu 37 6 117632191 117632191 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:117632191G>A uc003pxp.1 - 39 6424 c.6225C>T c.(6223-6225)TTC>TTT p.F2075F ROS1_uc011ebi.1_RNA NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 2075 Protein kinase.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) ACCTGTGAATGAAATGCATCC 0.378 T GOPC|ROS1 glioblastoma|NSCLC 22 32 --- --- --- --- PASS ROS1 6098 broad.mit.edu 37 6 117663580 117663580 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:117663580C>T uc003pxp.1 - 28 4851 c.4652G>A c.(4651-4653)GGA>GAA p.G1551E ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 1551 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TTTAGTTTTTCCCCAAATCTC 0.313 T GOPC|ROS1 glioblastoma|NSCLC 11 38 --- --- --- --- PASS FAM184A 79632 broad.mit.edu 37 6 119338100 119338100 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:119338100C>T uc003pyj.2 - 5 1690 c.1342G>A c.(1342-1344)GAA>AAA p.E448K FAM184A_uc003pyk.3_Missense_Mutation_p.E328K|FAM184A_uc003pyl.3_Missense_Mutation_p.E328K NM_024581 NP_078857 Q8NB25 F184A_HUMAN hypothetical protein LOC79632 isoform 1 448 Potential. ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1) 7 CTCTTTGCTTCATTTACTTTC 0.333 5 22 --- --- --- --- PASS C6orf170 221322 broad.mit.edu 37 6 121577360 121577360 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:121577360C>T uc003pyo.1 - 16 1873 c.1805G>A c.(1804-1806)GGA>GAA p.G602E C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Missense_Mutation_p.G121E NM_152730 NP_689943 Q96NH3 BROMI_HUMAN hypothetical protein LOC221322 602 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(226;0.00521) CATTTCTGATCCAGAAAATAT 0.348 14 24 --- --- --- --- PASS C6orf174 387104 broad.mit.edu 37 6 127794487 127794487 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:127794487G>A uc003qbd.2 - 7 3648 c.2783C>T c.(2782-2784)TCA>TTA p.S928L C6orf174_uc003qbc.2_5'UTR NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 928 Helical; (Potential). integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) GTAAGAAAGTGATGAAAATAA 0.274 7 20 --- --- --- --- PASS THEMIS 387357 broad.mit.edu 37 6 128134147 128134147 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:128134147C>T uc003qbi.2 - 5 1958 c.1639G>A c.(1639-1641)GAA>AAA p.E547K THEMIS_uc010kfa.2_Missense_Mutation_p.E450K|THEMIS_uc011ebt.1_Missense_Mutation_p.E547K|THEMIS_uc010kfb.2_Missense_Mutation_p.E512K NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 547 negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 GCTGAGCTTTCATATCTCCGC 0.458 19 38 --- --- --- --- PASS C6orf191 253582 broad.mit.edu 37 6 130152517 130152517 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:130152517G>A uc003qbs.2 - 5 417 c.334C>T c.(334-336)CCC>TCC p.P112S NM_001010876 NP_001010876 Q5VVB8 CF191_HUMAN hypothetical protein LOC253582 112 Helical; (Potential). integral to membrane large_intestine(1) 1 GBM - Glioblastoma multiforme(226;0.0387)|all cancers(137;0.115)|OV - Ovarian serous cystadenocarcinoma(155;0.131) GATGTCAAGGGGAATTCCAAC 0.299 9 25 --- --- --- --- PASS AKAP7 9465 broad.mit.edu 37 6 131481248 131481248 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:131481248G>A uc003qck.2 + 3 234 c.201G>A c.(199-201)TGG>TGA p.W67* AKAP7_uc011ebz.1_Nonsense_Mutation_p.W45* NM_016377 NP_057461 O43687 AKA7A_HUMAN A-kinase anchor protein 7 isoform gamma Error:Variant_position_missing_in_O43687_after_alignment intracellular signal transduction|ion transport apical plasma membrane|intracellular|lateral plasma membrane protein kinase A binding ovary(2) 2 Breast(56;0.152) GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345) AAAATGAATGGGTCAAGAGTG 0.318 15 30 --- --- --- --- PASS ARG1 383 broad.mit.edu 37 6 131904928 131904928 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:131904928G>A uc003qcp.1 + 8 907 c.849G>A c.(847-849)GGG>GGA p.G283G ARG1_uc003qco.1_Intron|ARG1_uc010kfm.1_Silent_p.G291G|MED23_uc003qcq.2_Intron NM_000045 NP_000036 P05089 ARGI1_HUMAN arginase 1 283 arginine catabolic process|urea cycle cytosol arginase activity ovary(1) 1 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713) L-Ornithine(DB00129) CATCCCTGGGGAAGACACCAG 0.398 11 27 --- --- --- --- PASS CTGF 1490 broad.mit.edu 37 6 132271549 132271549 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:132271549G>A uc003qcz.2 - 3 630 c.424C>T c.(424-426)CGT>TGT p.R142C NM_001901 NP_001892 P29279 CTGF_HUMAN connective tissue growth factor precursor 142 VWFC. cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding plasma membrane|proteinaceous extracellular matrix heparin binding|insulin-like growth factor binding 0 Breast(56;0.0602) GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169) CTGGGCAGACGAACGTCCATG 0.652 OREG0017666 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 29 --- --- --- --- PASS TAAR6 319100 broad.mit.edu 37 6 132891844 132891844 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:132891844C>T uc011eck.1 + 1 384 c.384C>T c.(382-384)ATC>ATT p.I128I NM_175067 NP_778237 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 128 Helical; Name=3; (Potential). plasma membrane G-protein coupled receptor activity ovary(2)|skin(1) 3 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) TCATCTCCATCGACAGGTACA 0.483 65 136 --- --- --- --- PASS TAAR6 319100 broad.mit.edu 37 6 132891934 132891934 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:132891934C>T uc011eck.1 + 1 474 c.474C>T c.(472-474)ATC>ATT p.I158I NM_175067 NP_778237 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 158 Helical; Name=4; (Potential). plasma membrane G-protein coupled receptor activity ovary(2)|skin(1) 3 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) TGTCCTGGATCCTGCCCCTCA 0.502 49 120 --- --- --- --- PASS EYA4 2070 broad.mit.edu 37 6 133849888 133849888 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:133849888C>T uc003qec.3 + 20 2323 c.1865C>T c.(1864-1866)TCC>TTC p.S622F EYA4_uc011ecq.1_Missense_Mutation_p.S568F|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Missense_Mutation_p.S622F|EYA4_uc003qee.3_Missense_Mutation_p.S599F|EYA4_uc011ecs.1_Missense_Mutation_p.S628F|uc003qeg.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a 622 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity large_intestine(2) 2 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) TGGAGGATATCCAGTCACTCA 0.328 49 149 --- --- --- --- PASS BCLAF1 9774 broad.mit.edu 37 6 136582572 136582572 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:136582572C>T uc003qgx.1 - 12 2841 c.2588G>A c.(2587-2589)GGA>GAA p.G863E BCLAF1_uc011edb.1_Missense_Mutation_p.G142E|BCLAF1_uc003qgw.1_Missense_Mutation_p.G690E|BCLAF1_uc003qgy.1_Missense_Mutation_p.G812E|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.G861E NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 863 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) ACGACCTCTTCCTCTTTTGGC 0.408 14 157 --- --- --- --- PASS BCLAF1 9774 broad.mit.edu 37 6 136599155 136599155 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:136599155C>T uc003qgx.1 - 4 1117 c.864G>A c.(862-864)CAG>CAA p.Q288Q BCLAF1_uc003qgw.1_Silent_p.Q288Q|BCLAF1_uc003qgy.1_Silent_p.Q286Q|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.Q286Q NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 288 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TTGGACTATTCTGAGAAGGAC 0.453 15 43 --- --- --- --- PASS BCLAF1 9774 broad.mit.edu 37 6 136599223 136599223 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:136599223G>A uc003qgx.1 - 4 1049 c.796C>T c.(796-798)CAG>TAG p.Q266* BCLAF1_uc003qgw.1_Nonsense_Mutation_p.Q266*|BCLAF1_uc003qgy.1_Nonsense_Mutation_p.Q264*|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Nonsense_Mutation_p.Q264* NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 266 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GGACTATGCTGAATGGAATGT 0.448 7 64 --- --- --- --- PASS MAP7 9053 broad.mit.edu 37 6 136710541 136710541 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:136710541C>T uc003qgz.2 - 4 605 c.359G>A c.(358-360)AGG>AAG p.R120K MAP7_uc011edf.1_Missense_Mutation_p.R105K|MAP7_uc011edg.1_Missense_Mutation_p.R142K|MAP7_uc010kgu.2_Missense_Mutation_p.R142K|MAP7_uc011edh.1_Missense_Mutation_p.R142K|MAP7_uc010kgv.2_Missense_Mutation_p.R142K|MAP7_uc010kgs.2_5'UTR|MAP7_uc011edi.1_5'UTR|MAP7_uc010kgq.1_Intron|MAP7_uc003qha.1_Missense_Mutation_p.R120K|MAP7_uc010kgr.2_Intron|MAP7_uc010kgt.2_Missense_Mutation_p.R142K NM_003980 NP_003971 Q14244 MAP7_HUMAN microtubule-associated protein 7 120 Potential. establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity 0 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) AGCAGCCCTCCTCCGCTCCTC 0.582 36 75 --- --- --- --- PASS SLC35D3 340146 broad.mit.edu 37 6 137245608 137245608 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:137245608G>A uc003qhe.2 + 2 1190 c.1025G>A c.(1024-1026)GGA>GAA p.G342E NM_001008783 NP_001008783 Q5M8T2 S35D3_HUMAN solute carrier family 35, member D3 342 carbohydrate transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) GGGGAGGGAGGAAATGGCCGG 0.687 13 11 --- --- --- --- PASS IFNGR1 3459 broad.mit.edu 37 6 137519347 137519347 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:137519347G>A uc003qho.2 - 7 1394 c.1291C>T c.(1291-1293)CCC>TCC p.P431S IFNGR1_uc011edm.1_Missense_Mutation_p.P403S NM_000416 NP_000407 P15260 INGR1_HUMAN interferon gamma receptor 1 precursor 431 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) TTATTTGGGGGAAATTCTGAG 0.398 10 28 --- --- --- --- PASS TNFAIP3 7128 broad.mit.edu 37 6 138199982 138199982 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:138199982C>A uc003qhr.2 + 7 1466 c.1400C>A c.(1399-1401)CCT>CAT p.P467H TNFAIP3_uc003qhs.2_Missense_Mutation_p.P467H NM_006290 NP_006281 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 467 Interaction with NAF1 (By similarity). anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(22)|p.P450fs*21(1) haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1) 137 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) GCACCCAGCCCTTTTCTGTTC 0.617 D|N|F marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma 5 10 --- --- --- --- PASS CCDC28A 25901 broad.mit.edu 37 6 139094850 139094850 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:139094850G>A uc003qie.2 + 1 194 c.39G>A c.(37-39)CAG>CAA p.Q13Q uc003qid.1_5'Flank NM_015439 NP_056254 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 13 0 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) TGGGGGAGCAGGAAAAGGCGG 0.612 19 44 --- --- --- --- PASS CCDC28A 25901 broad.mit.edu 37 6 139094873 139094873 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:139094873G>A uc003qie.2 + 1 217 c.62G>A c.(61-63)GGG>GAG p.G21E uc003qid.1_5'Flank NM_015439 NP_056254 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 21 0 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) CTTCCGCTTGGGGCATGGAGG 0.622 21 52 --- --- --- --- PASS STX11 8676 broad.mit.edu 37 6 144508350 144508350 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:144508350G>A uc003qks.3 + 2 778 c.586G>A c.(586-588)GAC>AAC p.D196N NM_003764 NP_003755 O75558 STX11_HUMAN syntaxin 11 196 cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) CTTGCTGGCCGACGTGAAGGG 0.637 Familial_Hemophagocytic_Lymphohistiocytosis 11 14 --- --- --- --- PASS UTRN 7402 broad.mit.edu 37 6 145157481 145157481 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:145157481G>A uc003qkt.2 + 70 9961 c.9869G>A c.(9868-9870)CGA>CAA p.R3290Q NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 3290 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CAGCACCTCCGAAGGGGGCTC 0.498 54 83 --- --- --- --- PASS FBXO30 84085 broad.mit.edu 37 6 146125854 146125854 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:146125854G>A uc003qla.2 - 2 1887 c.1688C>T c.(1687-1689)ACC>ATC p.T563I uc003qky.1_Intron NM_032145 NP_115521 Q8TB52 FBX30_HUMAN F-box only protein 30 563 ubiquitin-protein ligase activity|zinc ion binding ovary(2)|large_intestine(1) 3 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) CTGAGAATAGGTACAACCATA 0.413 16 49 --- --- --- --- PASS SHPRH 257218 broad.mit.edu 37 6 146264545 146264545 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:146264545G>T uc003qlf.2 - 9 2371 c.1972C>A c.(1972-1974)CGC>AGC p.R658S SHPRH_uc003qld.2_Missense_Mutation_p.R658S|SHPRH_uc003qle.2_Missense_Mutation_p.R658S|SHPRH_uc003qlg.1_Missense_Mutation_p.R214S|SHPRH_uc003qlj.1_Missense_Mutation_p.R547S NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 658 PHD-type. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) CACTCAAAGCGGTAATCAGAG 0.423 5 95 --- --- --- --- PASS GRM1 2911 broad.mit.edu 37 6 146720028 146720028 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:146720028G>T uc010khw.1 + 8 2323 c.1853G>T c.(1852-1854)CGG>CTG p.R618L GRM1_uc010khv.1_Missense_Mutation_p.R618L|GRM1_uc003qll.2_Missense_Mutation_p.R618L|GRM1_uc011edz.1_Missense_Mutation_p.R618L|GRM1_uc011eea.1_Missense_Mutation_p.R618L NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 618 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GTACTGTACCGGGACACACCA 0.473 5 141 --- --- --- --- PASS LATS1 9113 broad.mit.edu 37 6 149983369 149983369 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:149983369G>A uc003qmu.1 - 8 3437 c.2889C>T c.(2887-2889)ATC>ATT p.I963I LATS1_uc010kif.1_Silent_p.I858I NM_004690 NP_004681 O95835 LATS1_HUMAN LATS homolog 1 963 Protein kinase. cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) TTTGCCAGTTGATAACCTTTA 0.348 22 27 --- --- --- --- PASS PLEKHG1 57480 broad.mit.edu 37 6 151107560 151107560 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:151107560G>A uc003qny.1 + 5 859 c.547G>A c.(547-549)GAT>AAT p.D183N PLEKHG1_uc011eel.1_Missense_Mutation_p.D223N|PLEKHG1_uc011eem.1_Missense_Mutation_p.D242N|PLEKHG1_uc003qnz.2_Missense_Mutation_p.D183N NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 183 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) CTGTGAAAATGATCCTGTGGC 0.373 22 34 --- --- --- --- PASS AKAP12 9590 broad.mit.edu 37 6 151669885 151669885 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:151669885C>T uc011eep.1 + 4 599 c.359C>T c.(358-360)TCC>TTC p.S120F AKAP12_uc003qoe.2_Missense_Mutation_p.S120F|AKAP12_uc003qof.2_Missense_Mutation_p.S22F|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.S15F NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 120 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) AAAAGAGACTCCGATAAAGAG 0.453 8 22 --- --- --- --- PASS AKAP12 9590 broad.mit.edu 37 6 151669886 151669886 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:151669886C>T uc011eep.1 + 4 600 c.360C>T c.(358-360)TCC>TCT p.S120S AKAP12_uc003qoe.2_Silent_p.S120S|AKAP12_uc003qof.2_Silent_p.S22S|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.S15S NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 120 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) AAAGAGACTCCGATAAAGAGA 0.453 9 22 --- --- --- --- PASS C6orf211 79624 broad.mit.edu 37 6 151790238 151790238 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:151790238C>T uc003qok.1 + 5 1578 c.1319C>T c.(1318-1320)CCC>CTC p.P440L C6orf211_uc011ees.1_Missense_Mutation_p.P321L NM_024573 NP_078849 Q9H993 CF211_HUMAN hypothetical protein LOC79624 440 protein binding 0 BRCA - Breast invasive adenocarcinoma(37;0.183) OV - Ovarian serous cystadenocarcinoma(155;5.27e-11) TACGATGGTCCCCTTTGACTT 0.517 6 8 --- --- --- --- PASS ESR1 2099 broad.mit.edu 37 6 152415611 152415611 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:152415611C>T uc003qom.3 + 9 1831 c.1461C>T c.(1459-1461)ATC>ATT p.I487I ESR1_uc010kin.2_Silent_p.I487I|ESR1_uc010kio.2_Silent_p.I489I|ESR1_uc010kip.2_Silent_p.I486I|ESR1_uc003qon.3_Silent_p.I487I|ESR1_uc003qoo.3_Silent_p.I487I|ESR1_uc010kiq.2_Silent_p.I85I|ESR1_uc010kir.2_Silent_p.I226I|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Silent_p.I72I|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Silent_p.I156I|ESR1_uc011eex.1_Intron|ESR1_uc011eey.1_Intron NM_001122742 NP_001116214 P03372 ESR1_HUMAN estrogen receptor alpha isoform 4 487 Steroid-binding.|Interaction with AKAP13. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding central_nervous_system(2)|ovary(1)|lung(1)|breast(1) 5 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) ACACTTTGATCCACCTGATGG 0.572 27 42 --- --- --- --- PASS ESR1 2099 broad.mit.edu 37 6 152415612 152415612 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:152415612C>T uc003qom.3 + 9 1832 c.1462C>T c.(1462-1464)CAC>TAC p.H488Y ESR1_uc010kin.2_Missense_Mutation_p.H488Y|ESR1_uc010kio.2_Missense_Mutation_p.H490Y|ESR1_uc010kip.2_Missense_Mutation_p.H487Y|ESR1_uc003qon.3_Missense_Mutation_p.H488Y|ESR1_uc003qoo.3_Missense_Mutation_p.H488Y|ESR1_uc010kiq.2_Missense_Mutation_p.H86Y|ESR1_uc010kir.2_Missense_Mutation_p.H227Y|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Missense_Mutation_p.H73Y|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Missense_Mutation_p.H157Y|ESR1_uc011eex.1_Intron|ESR1_uc011eey.1_Intron NM_001122742 NP_001116214 P03372 ESR1_HUMAN estrogen receptor alpha isoform 4 488 Steroid-binding.|Interaction with AKAP13. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding central_nervous_system(2)|ovary(1)|lung(1)|breast(1) 5 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) CACTTTGATCCACCTGATGGC 0.567 26 42 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152605216 152605216 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:152605216G>A uc010kiw.2 - 96 18706 c.18104C>T c.(18103-18105)GCC>GTC p.A6035V SYNE1_uc010kiv.2_Missense_Mutation_p.A559V|SYNE1_uc003qos.3_Missense_Mutation_p.A559V|SYNE1_uc003qot.3_Missense_Mutation_p.A5964V|SYNE1_uc003qou.3_Missense_Mutation_p.A6035V|SYNE1_uc010kiy.1_Missense_Mutation_p.A214V NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6035 Spectrin 20.|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) CGCAGGGTCGGCCTCACAAGA 0.557 HNSCC(10;0.0054) 18 36 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152631852 152631852 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:152631852G>A uc010kiw.2 - 88 17469 c.16867C>T c.(16867-16869)CGT>TGT p.R5623C SYNE1_uc010kiv.2_Missense_Mutation_p.R147C|SYNE1_uc003qos.3_Missense_Mutation_p.R147C|SYNE1_uc003qot.3_Missense_Mutation_p.R5552C|SYNE1_uc003qou.3_Missense_Mutation_p.R5623C NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5623 Spectrin 17.|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) TTCTGCAAACGAATTTTGATC 0.373 HNSCC(10;0.0054) 8 20 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152730358 152730358 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:152730358C>T uc010kiw.2 - 44 6987 c.6385G>A c.(6385-6387)GAA>AAA p.E2129K SYNE1_uc003qot.3_Missense_Mutation_p.E2136K|SYNE1_uc003qou.3_Missense_Mutation_p.E2129K|SYNE1_uc010kjb.1_Missense_Mutation_p.E2112K NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2129 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) TTGGCAGTTTCATGCTGTGGA 0.299 HNSCC(10;0.0054) 9 33 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152765648 152765648 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:152765648G>A uc010kiw.2 - 30 4337 c.3735C>T c.(3733-3735)CTC>CTT p.L1245L SYNE1_uc003qot.3_Silent_p.L1252L|SYNE1_uc003qou.3_Silent_p.L1245L|SYNE1_uc010kjb.1_Silent_p.L1228L|SYNE1_uc003qow.2_Silent_p.L540L|SYNE1_uc003qox.1_Silent_p.L761L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1245 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) TTAATTCTTCGAGAGAATTTT 0.348 HNSCC(10;0.0054) 11 23 --- --- --- --- PASS MYCT1 80177 broad.mit.edu 37 6 153043010 153043010 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:153043010G>A uc003qpd.3 + 2 338 c.330G>A c.(328-330)AGG>AGA p.R110R MYCT1_uc010kjc.1_Intron|MYCT1_uc003qpc.3_Silent_p.R110R NM_025107 NP_079383 Q8N699 MYCT1_HUMAN myc target 1 110 Bipartite nuclear localization signal (Potential). nucleus ovary(1) 1 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) GTTCAAGCAGGAGATCTAGGT 0.517 26 54 --- --- --- --- PASS RGS17 26575 broad.mit.edu 37 6 153365058 153365058 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:153365058C>A uc003qpm.2 - 2 252 c.96G>T c.(94-96)TGG>TGT p.W32C NM_012419 NP_036551 Q9UGC6 RGS17_HUMAN regulator of G-protein signalling 17 32 Poly-Cys. negative regulation of signal transduction cytoplasm|nucleus|plasma membrane GTPase activator activity|signal transducer activity pancreas(1) 1 Ovarian(120;0.126) OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429) AACAACAGCACCAACAAAAGC 0.507 Lung_Cancer_Familial_Clustering_of 42 90 --- --- --- --- PASS OPRM1 4988 broad.mit.edu 37 6 154360940 154360940 + Silent SNP A C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:154360940A>C uc003qpr.2 + 1 498 c.261A>C c.(259-261)GGA>GGC p.G87G OPRM1_uc011efb.1_Silent_p.G135G|OPRM1_uc011efc.1_Intron|OPRM1_uc011efd.1_Intron|OPRM1_uc011efe.1_Silent_p.G180G|OPRM1_uc003qpn.2_Silent_p.G87G|OPRM1_uc003qpo.1_Silent_p.G87G|OPRM1_uc011eff.1_Silent_p.G87G|OPRM1_uc011efg.1_Silent_p.G87G|OPRM1_uc011efh.1_Silent_p.G87G|OPRM1_uc003qpq.1_Silent_p.G87G|OPRM1_uc003qpt.1_Silent_p.G87G|OPRM1_uc011efi.1_Silent_p.G87G|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA NM_000914 NP_000905 P35372 OPRM_HUMAN opioid receptor, mu 1 isoform MOR-1 87 Helical; Name=1; (Potential). behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding ovary(1) 1 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) GGCTCTTCGGAAACTTCCTGG 0.587 7 26 --- --- --- --- PASS OPRM1 4988 broad.mit.edu 37 6 154412509 154412509 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:154412509A>G uc003qpr.2 + 3 1303 c.1066A>G c.(1066-1068)ACC>GCC p.T356A OPRM1_uc011efc.1_Missense_Mutation_p.T275A|OPRM1_uc011efd.1_Missense_Mutation_p.T256A|OPRM1_uc011efe.1_Missense_Mutation_p.T449A|OPRM1_uc003qpn.2_Missense_Mutation_p.T356A|OPRM1_uc003qpo.1_Missense_Mutation_p.T356A|OPRM1_uc011eff.1_Missense_Mutation_p.T356A|OPRM1_uc011efg.1_Missense_Mutation_p.T356A|OPRM1_uc011efh.1_Missense_Mutation_p.T356A|OPRM1_uc003qpq.1_Missense_Mutation_p.T356A|OPRM1_uc003qpt.1_Missense_Mutation_p.T356A|OPRM1_uc011efi.1_Missense_Mutation_p.T356A|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Missense_Mutation_p.T256A|OPRM1_uc003qpu.2_Missense_Mutation_p.T256A NM_000914 NP_000905 P35372 OPRM_HUMAN opioid receptor, mu 1 isoform MOR-1 356 Cytoplasmic (Potential). behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding ovary(1) 1 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) CTGTATCCCAACCTCTTCCAA 0.453 22 53 --- --- --- --- PASS TIAM2 26230 broad.mit.edu 37 6 155571102 155571102 + Missense_Mutation SNP A C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:155571102A>C uc003qqb.2 + 23 5223 c.3950A>C c.(3949-3951)GAG>GCG p.E1317A TIAM2_uc003qqe.2_Missense_Mutation_p.E1317A|TIAM2_uc010kjj.2_Missense_Mutation_p.E850A|TIAM2_uc003qqf.2_Missense_Mutation_p.E693A|TIAM2_uc011efl.1_Missense_Mutation_p.E653A|TIAM2_uc003qqg.2_Missense_Mutation_p.E629A|TIAM2_uc003qqh.2_Missense_Mutation_p.E242A NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1317 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) ACAGAGAAGGAGGTCCGTGAG 0.527 19 35 --- --- --- --- PASS NOX3 50508 broad.mit.edu 37 6 155761200 155761200 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:155761200C>T uc003qqm.2 - 6 661 c.558G>A c.(556-558)TTG>TTA p.L186L NM_015718 NP_056533 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 186 Ferric oxidoreductase.|Helical; (Potential). electron carrier activity|flavin adenine dinucleotide binding|iron ion binding ovary(1) 1 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) AGGTCATGATCAAGACTAAAG 0.418 15 48 --- --- --- --- PASS ARID1B 57492 broad.mit.edu 37 6 157150511 157150511 + Missense_Mutation SNP C T T rs143370913 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:157150511C>T uc003qqn.2 + 2 1671 c.1519C>T c.(1519-1521)CGG>TGG p.R507W ARID1B_uc003qqo.2_Missense_Mutation_p.R507W|ARID1B_uc003qqp.2_Missense_Mutation_p.R507W NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 565 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CATCCAGGGTCGGACTCCCGG 0.582 13 14 --- --- --- --- PASS TULP4 56995 broad.mit.edu 37 6 158924312 158924312 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:158924312C>T uc003qrf.2 + 13 4974 c.3617C>T c.(3616-3618)CCC>CTC p.P1206L TULP4_uc003qrg.2_Intron NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 1206 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) GTGCAGGCTCCCTGCTCTCCC 0.587 23 59 --- --- --- --- PASS SYTL3 94120 broad.mit.edu 37 6 159146621 159146621 + Silent SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:159146621C>A uc003qrp.2 + 10 1051 c.807C>A c.(805-807)CTC>CTA p.L269L SYTL3_uc011efp.1_Silent_p.L269L|SYTL3_uc003qro.2_Silent_p.L201L|SYTL3_uc003qrq.2_Silent_p.L201L|SYTL3_uc003qrr.2_Silent_p.L269L|SYTL3_uc003qrs.2_Silent_p.L201L|SYTL3_uc011efq.1_Intron NM_001009991 NP_001009991 Q4VX76 SYTL3_HUMAN synaptotagmin-like 3 269 intracellular protein transport endomembrane system|membrane Rab GTPase binding 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06) AACAGAATCTCCCATCCAGTC 0.383 30 104 --- --- --- --- PASS FNDC1 84624 broad.mit.edu 37 6 159653084 159653084 + Silent SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:159653084T>C uc010kjv.2 + 11 1740 c.1540T>C c.(1540-1542)TTG>CTG p.L514L FNDC1_uc010kjw.1_Silent_p.L399L NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 514 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GAACAAAATATTGGCTAATGG 0.557 10 20 --- --- --- --- PASS FNDC1 84624 broad.mit.edu 37 6 159654381 159654381 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:159654381C>T uc010kjv.2 + 11 3037 c.2837C>T c.(2836-2838)GCC>GTC p.A946V FNDC1_uc010kjw.1_Missense_Mutation_p.A831V NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 946 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) TCCTCCCTGGCCTCCAAGGCT 0.617 6 19 --- --- --- --- PASS FNDC1 84624 broad.mit.edu 37 6 159655137 159655137 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:159655137C>T uc010kjv.2 + 11 3793 c.3593C>T c.(3592-3594)TCC>TTC p.S1198F FNDC1_uc010kjw.1_Missense_Mutation_p.S1083F NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1198 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CTTCTGTCTTCCTCTGTGCCA 0.627 9 9 --- --- --- --- PASS IGF2R 3482 broad.mit.edu 37 6 160494846 160494846 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:160494846C>T uc003qta.2 + 35 5153 c.5005C>T c.(5005-5007)CGC>TGC p.R1669C NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 1669 Lumenal (Potential).|12. receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) CCTTATTCATCGCACTGGTGG 0.418 12 38 --- --- --- --- PASS LPA 4018 broad.mit.edu 37 6 160952868 160952868 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:160952868C>T uc003qtl.2 - 40 6136 c.6016G>A c.(6016-6018)GGA>AGA p.G2006R NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 4514 Peptidase S1. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GAAGTGACTCCTTGTAAAATG 0.468 20 36 --- --- --- --- PASS LPA 4018 broad.mit.edu 37 6 161020671 161020671 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:161020671C>A uc003qtl.2 - 21 3268 c.3148G>T c.(3148-3150)GGG>TGG p.G1050W NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3558 Kringle 32. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TCCTGTACCCCGGGGGTTTCC 0.433 5 110 --- --- --- --- PASS MAP3K4 4216 broad.mit.edu 37 6 161470960 161470960 + Silent SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:161470960T>C uc003qtn.2 + 3 1798 c.1656T>C c.(1654-1656)GGT>GGC p.G552G MAP3K4_uc010kkc.1_Silent_p.G552G|MAP3K4_uc003qto.2_Silent_p.G552G|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 552 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) TAATGGATGGTTCCTTGCAAA 0.378 14 42 --- --- --- --- PASS PARK2 5071 broad.mit.edu 37 6 161990405 161990405 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:161990405C>T uc003qtx.3 - 8 1049 c.915G>A c.(913-915)AGG>AGA p.R305R PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Silent_p.R114R|PARK2_uc003qtw.3_Silent_p.R114R|PARK2_uc003qty.3_Silent_p.R277R|PARK2_uc003qtz.3_Silent_p.R156R|PARK2_uc010kke.1_Silent_p.R324R|PARK2_uc011egf.1_5'UTR NM_004562 NP_004553 O60260 PRKN2_HUMAN parkin isoform 1 305 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding upper_aerodigestive_tract(1) 1 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) CTCCCAGAATCCTGAAGTGAT 0.468 11 32 --- --- --- --- PASS PARK2 5071 broad.mit.edu 37 6 162683632 162683632 + Missense_Mutation SNP G A A rs148252233 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:162683632G>A uc003qtx.3 - 3 471 c.337C>T c.(337-339)CCA>TCA p.P113S PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Intron|PARK2_uc003qtw.3_5'UTR|PARK2_uc003qty.3_Missense_Mutation_p.P113S|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Missense_Mutation_p.P113S NM_004562 NP_004553 O60260 PRKN2_HUMAN parkin isoform 1 113 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding upper_aerodigestive_tract(1) 1 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) GAGTCTCCTGGGAGGACTGAG 0.577 11 30 --- --- --- --- PASS C6orf118 168090 broad.mit.edu 37 6 165715741 165715741 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:165715741G>A uc003qum.3 - 2 106 c.70C>T c.(70-72)CTG>TTG p.L24L C6orf118_uc011egi.1_RNA NM_144980 NP_659417 Q5T5N4 CF118_HUMAN hypothetical protein LOC168090 24 0 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) AGATTACACAGGGTCTTCACG 0.512 12 40 --- --- --- --- PASS PDE10A 10846 broad.mit.edu 37 6 165801805 165801805 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:165801805C>T uc003qun.2 - 18 2005 c.1764G>A c.(1762-1764)CAG>CAA p.Q588Q PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Silent_p.Q518Q|PDE10A_uc003quo.2_Silent_p.Q598Q NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 588 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) TGGACACAGTCTGGGAGAAGT 0.552 19 74 --- --- --- --- PASS PDE10A 10846 broad.mit.edu 37 6 165842145 165842145 + Splice_Site SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:165842145C>A uc003qun.2 - 11 1066 c.825_splice c.e11+1 p.M275_splice PDE10A_uc011egj.1_Splice_Site|PDE10A_uc011egk.1_Splice_Site_p.M205_splice|PDE10A_uc003quo.2_Splice_Site_p.M285_splice NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 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) AAACAACCTACCATTATGTGT 0.318 7 11 --- --- --- --- PASS PDE10A 10846 broad.mit.edu 37 6 165862430 165862430 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:165862430C>T uc003qun.2 - 6 593 c.352G>A c.(352-354)GGA>AGA p.G118R PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.G48R|PDE10A_uc003quo.2_Missense_Mutation_p.G128R NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 118 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) TTGCACTCTCCAAGGAAATAC 0.348 8 33 --- --- --- --- PASS T 6862 broad.mit.edu 37 6 166580159 166580159 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:166580159T>C uc003quu.1 - 3 885 c.392A>G c.(391-393)AAC>AGC p.N131S T_uc003qut.1_Missense_Mutation_p.N131S|T_uc003quv.1_Missense_Mutation_p.N131S NM_003181 NP_003172 O15178 BRAC_HUMAN transcription factor T 131 T-box. anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) GGCCCCGAAGTTGGGCGAGTC 0.652 Chordoma_Familial_Clustering_of 17 24 --- --- --- --- PASS CCR6 1235 broad.mit.edu 37 6 167550254 167550254 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:167550254C>T uc003qvl.2 + 13 3012 c.536C>T c.(535-537)TCC>TTC p.S179F CCR6_uc010kkm.2_Missense_Mutation_p.S179F|CCR6_uc003qvn.3_Missense_Mutation_p.S179F|CCR6_uc003qvm.3_Missense_Mutation_p.S179F NM_031409 NP_113597 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 179 Helical; Name=4; (Potential). cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity ovary(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) GTCATCATCTCCAGCTCAACT 0.517 14 33 --- --- --- --- PASS TTLL2 83887 broad.mit.edu 37 6 167754328 167754328 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:167754328G>A uc003qvs.1 + 3 1028 c.940G>A c.(940-942)GAA>AAA p.E314K TTLL2_uc011egr.1_RNA NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 314 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) GAAGATCAAAGAAGTGATTGG 0.433 30 74 --- --- --- --- PASS MLLT4 4301 broad.mit.edu 37 6 168352699 168352699 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:168352699C>T uc003qwd.2 + 29 4783 c.4641C>T c.(4639-4641)GAC>GAT p.D1547D MLLT4_uc003qwb.1_Silent_p.D1532D|MLLT4_uc003qwc.1_Silent_p.D1548D|MLLT4_uc003qwg.1_Silent_p.D857D NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1548 Potential. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding ovary(2)|lung(1)|kidney(1)|central_nervous_system(1) 5 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) GCAAACCGGACCGCAGCGCCG 0.517 T MLL AL 12 19 --- --- --- --- PASS KIF25 3834 broad.mit.edu 37 6 168443317 168443317 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:168443317C>T uc003qwk.1 + 8 1168 c.906C>T c.(904-906)GTC>GTT p.V302V KIF25_uc003qwl.1_Intron NM_030615 NP_085118 Q9UIL4 KIF25_HUMAN kinesin family member 25 isoform 1 302 microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity ovary(1)|pancreas(1) 2 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) TGGCAGGCGTCCTGGGGGCTT 0.647 15 28 --- --- --- --- PASS FRMD1 79981 broad.mit.edu 37 6 168464355 168464355 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:168464355C>T uc003qwo.3 - 6 795 c.730G>A c.(730-732)GAG>AAG p.E244K FRMD1_uc003qwm.3_Missense_Mutation_p.E15K|FRMD1_uc011egs.1_Missense_Mutation_p.E15K|FRMD1_uc011egt.1_Missense_Mutation_p.E156K|FRMD1_uc003qwn.3_Missense_Mutation_p.E176K NM_024919 NP_079195 Q8N878 FRMD1_HUMAN FERM domain containing 1 isoform 1 244 FERM. cytoskeleton binding ovary(1) 1 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) AGCATGGCCTCCTTGGGGCTC 0.652 7 13 --- --- --- --- PASS FRMD1 79981 broad.mit.edu 37 6 168464356 168464356 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:168464356C>T uc003qwo.3 - 6 794 c.729G>A c.(727-729)AAG>AAA p.K243K FRMD1_uc003qwm.3_Silent_p.K14K|FRMD1_uc011egs.1_Silent_p.K14K|FRMD1_uc011egt.1_Silent_p.K155K|FRMD1_uc003qwn.3_Silent_p.K175K NM_024919 NP_079195 Q8N878 FRMD1_HUMAN FERM domain containing 1 isoform 1 243 FERM. cytoskeleton binding ovary(1) 1 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GCATGGCCTCCTTGGGGCTCA 0.652 7 13 --- --- --- --- PASS THBS2 7058 broad.mit.edu 37 6 169648703 169648703 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:169648703C>T uc003qwt.2 - 4 666 c.418G>A c.(418-420)GAG>AAG p.E140K NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 140 TSP N-terminal.|Heparin-binding (Potential). cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CCGACGTCCTCCAGGGAGACC 0.632 14 29 --- --- --- --- PASS THBS2 7058 broad.mit.edu 37 6 169648981 169648981 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:169648981C>T uc003qwt.2 - 4 388 c.140G>A c.(139-141)GGG>GAG p.G47E NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 47 TSP N-terminal.|Heparin-binding (Potential). cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GGGGTCGGGCCCGCGGAACTG 0.582 9 17 --- --- --- --- PASS C6orf70 55780 broad.mit.edu 37 6 170179304 170179304 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:170179304G>A uc003qxg.1 + 17 1799 c.1766G>A c.(1765-1767)AGC>AAC p.S589N C6orf70_uc011ehb.1_Missense_Mutation_p.S463N|C6orf70_uc003qxh.1_Missense_Mutation_p.S516N|C6orf70_uc010kky.1_Missense_Mutation_p.S416N|C6orf70_uc003qxi.1_Missense_Mutation_p.S237N NM_018341 NP_060811 Q5T6L9 CF070_HUMAN hypothetical protein LOC55780 589 Helical; (Potential). integral to membrane ovary(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) CCTGTGCTCAGCCTGATACTG 0.398 23 21 --- --- --- --- PASS DLL1 28514 broad.mit.edu 37 6 170592612 170592612 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr6:170592612C>T uc003qxm.2 - 9 2225 c.1755G>A c.(1753-1755)GGG>GGA p.G585G NM_005618 NP_005609 O00548 DLL1_HUMAN delta-like 1 precursor 585 Cytoplasmic (Potential). cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding lung(4)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) TCTCCGTCTCCCCCCGGCAGG 0.627 16 25 --- --- --- --- PASS SUN1 23353 broad.mit.edu 37 7 892456 892456 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:892456C>T uc011jvp.1 + 10 999 c.920C>T c.(919-921)TCC>TTC p.S307F GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Missense_Mutation_p.S224F|SUN1_uc011jvq.1_Missense_Mutation_p.S204F|SUN1_uc003sjg.2_Missense_Mutation_p.S212F|SUN1_uc011jvr.1_Missense_Mutation_p.S116F|SUN1_uc003sji.2_Missense_Mutation_p.S145F|SUN1_uc003sjk.2_5'UTR NM_001130965 NP_001124437 O94901 SUN1_HUMAN unc-84 homolog A isoform a 334 Helical. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding 0 GCAGGTCTCTCCTTACGGGGC 0.488 34 73 --- --- --- --- PASS INTS1 26173 broad.mit.edu 37 7 1513866 1513866 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:1513866A>T uc003skn.2 - 41 5868 c.5767T>A c.(5767-5769)TTC>ATC p.F1923I INTS1_uc003skm.1_Missense_Mutation_p.F60I NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 1923 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) TCGCTGCGGAACACGTGCGGC 0.687 OREG0017827 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 9 --- --- --- --- PASS MAD1L1 8379 broad.mit.edu 37 7 2257622 2257622 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:2257622C>T uc003slh.1 - 7 919 c.653G>A c.(652-654)AGA>AAA p.R218K MAD1L1_uc003sle.1_5'Flank|MAD1L1_uc003slf.1_Missense_Mutation_p.R218K|MAD1L1_uc003slg.1_Missense_Mutation_p.R218K|MAD1L1_uc010ksh.1_Missense_Mutation_p.R218K|MAD1L1_uc003sli.1_Missense_Mutation_p.R126K|MAD1L1_uc010ksi.1_Missense_Mutation_p.R171K|MAD1L1_uc010ksj.2_Missense_Mutation_p.R218K NM_001013836 NP_001013858 Q9Y6D9 MD1L1_HUMAN MAD1-like 1 protein 218 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) GTGGTCTGCTCTTGCTTCTTG 0.517 18 31 --- --- --- --- PASS FTSJ2 29960 broad.mit.edu 37 7 2275170 2275170 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:2275170C>T uc003slm.2 - 3 357 c.328G>A c.(328-330)GGG>AGG p.G110R MAD1L1_uc003slh.1_5'Flank|MAD1L1_uc003slf.1_5'Flank|MAD1L1_uc003slg.1_5'Flank|MAD1L1_uc010ksh.1_5'Flank|MAD1L1_uc003sli.1_5'Flank|MAD1L1_uc010ksi.1_5'Flank|MAD1L1_uc010ksj.2_5'Flank|FTSJ2_uc003slk.2_5'UTR|FTSJ2_uc003sll.2_5'UTR|FTSJ2_uc003sln.2_RNA|FTSJ2_uc003slo.2_5'UTR NM_013393 NP_037525 Q9UI43 RRMJ2_HUMAN FtsJ homolog 2 110 cell proliferation mitochondrion|nucleolus nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity ovary(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14) AGATCTACCCCAAGCACGAAG 0.453 15 36 --- --- --- --- PASS C7orf27 221927 broad.mit.edu 37 7 2580984 2580984 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:2580984G>A uc003smi.2 - 9 1311 c.1269C>T c.(1267-1269)GTC>GTT p.V423V C7orf27_uc003smh.3_5'UTR NM_152743 NP_689956 Q6PJG6 BRAT1_HUMAN hypothetical protein LOC221927 precursor 423 response to ionizing radiation nucleus protein binding 0 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;2.91e-14) GCTGGACCCGGACGCAGCCCG 0.682 4 8 --- --- --- --- PASS IQCE 23288 broad.mit.edu 37 7 2646835 2646835 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:2646835C>T uc003smo.3 + 21 2127 c.1943C>T c.(1942-1944)TCC>TTC p.S648F IQCE_uc003sml.1_Missense_Mutation_p.S648F|IQCE_uc011jvy.1_Missense_Mutation_p.S632F|IQCE_uc011jvz.1_Missense_Mutation_p.S583F|IQCE_uc003smk.3_Missense_Mutation_p.S632F|IQCE_uc003smn.3_Missense_Mutation_p.S583F NM_152558 NP_689771 Q6IPM2 IQCE_HUMAN IQ motif containing E isoform 1 648 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) GACGCCTCCTCCCCACCCTTC 0.557 17 29 --- --- --- --- PASS CARD11 84433 broad.mit.edu 37 7 2977615 2977615 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:2977615C>T uc003smv.2 - 8 1473 c.1069G>A c.(1069-1071)GAC>AAC p.D357N NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 357 Potential. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) ATTTCACAGTCCTTTCCCAGG 0.562 Mis DLBCL 21 28 --- --- --- --- PASS CARD11 84433 broad.mit.edu 37 7 2977616 2977616 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:2977616C>T uc003smv.2 - 8 1472 c.1068G>A c.(1066-1068)AAG>AAA p.K356K NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 356 Potential. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TTTCACAGTCCTTTCCCAGGG 0.562 Mis DLBCL 22 29 --- --- --- --- PASS RNF216 54476 broad.mit.edu 37 7 5769095 5769095 + Nonsense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:5769095C>A uc003soy.1 - 7 1376 c.1186G>T c.(1186-1188)GAG>TAG p.E396* RNF216_uc010ksz.1_Nonsense_Mutation_p.E18*|RNF216_uc010kta.1_Nonsense_Mutation_p.E18*|RNF216_uc011jwj.1_Nonsense_Mutation_p.E18*|RNF216_uc003sox.1_Nonsense_Mutation_p.E453* NM_207116 NP_996999 Q9NWF9 RN216_HUMAN ring finger protein 216 isoform b 396 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus|nucleus ligase activity|protein binding|protein binding|zinc ion binding ovary(3)|breast(2) 5 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) CCTTTGAGCTCGTGCAGGGCC 0.512 26 58 --- --- --- --- PASS AIMP2 7965 broad.mit.edu 37 7 6057569 6057569 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:6057569C>T uc003spo.2 + 3 580 c.467C>T c.(466-468)TCC>TTC p.S156F NM_006303 NP_006294 Q13155 AIMP2_HUMAN aminoacyl tRNA synthetase complex-interacting 156 Interaction with PARK2. apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation cytosol|nucleus protein binding ovary(1) 1 CACACGCACTCCTCGGTCAAG 0.547 8 23 --- --- --- --- PASS CYTH3 9265 broad.mit.edu 37 7 6217551 6217551 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:6217551T>A uc003spt.2 - 5 375 c.271A>T c.(271-273)AAT>TAT p.N91Y NM_004227 NP_004218 O43739 CYH3_HUMAN cytohesin 3 91 SEC7. regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|membrane fraction|plasma membrane 1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity 0 AGCAGGTCATTTTCTATTAGA 0.418 21 45 --- --- --- --- PASS C7orf70 84792 broad.mit.edu 37 7 6370351 6370351 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:6370351G>A uc003spu.2 - 2 903 c.435C>T c.(433-435)TGC>TGT p.C145C NM_001037163 NP_001032240 Q7Z4H9 SIPAR_HUMAN hypothetical protein LOC84792 145 nucleus 0 CTCCTTTGGGGCACTGTCCTC 0.602 10 14 --- --- --- --- PASS COL28A1 340267 broad.mit.edu 37 7 7484115 7484115 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:7484115C>T uc003src.1 - 19 1632 c.1515G>A c.(1513-1515)GAG>GAA p.E505E COL28A1_uc011jxe.1_Silent_p.E188E|COL28A1_uc003srd.2_Silent_p.E60E NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN collagen, type XXVIII precursor 505 Collagen-like 4. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity skin(3) 3 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TTGAGCCTGGCTCTCCCTGGT 0.448 12 37 --- --- --- --- PASS NXPH1 30010 broad.mit.edu 37 7 8790773 8790773 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:8790773C>T uc003srv.2 + 3 1101 c.190C>T c.(190-192)CGT>TGT p.R64C NXPH1_uc011jxh.1_5'UTR NM_152745 NP_689958 P58417 NXPH1_HUMAN neurexophilin 1 precursor 64 II. extracellular region ovary(1)|central_nervous_system(1) 2 Ovarian(82;0.0628) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) ACAGACTTTTCGTGGCAAAGA 0.463 23 59 --- --- --- --- PASS THSD7A 221981 broad.mit.edu 37 7 11521444 11521444 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:11521444C>T uc003ssf.3 - 7 2240 c.1988G>A c.(1987-1989)CGA>CAA p.R663Q NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 663 TSP type-1 6.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CAGAATGGATCGTGCTCGTAT 0.517 HNSCC(18;0.044) 15 45 --- --- --- --- PASS THSD7A 221981 broad.mit.edu 37 7 11630129 11630129 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:11630129C>T uc003ssf.3 - 4 1663 c.1411G>A c.(1411-1413)GAA>AAA p.E471K NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 471 Extracellular (Potential).|TSP type-1 4. integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) AGGAGGTTTTCGTTGGCCTGC 0.522 HNSCC(18;0.044) 17 40 --- --- --- --- PASS MEOX2 4223 broad.mit.edu 37 7 15725862 15725862 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:15725862C>T uc003stc.2 - 1 447 c.166G>A c.(166-168)GAA>AAA p.E56K MEOX2_uc011jxw.1_Missense_Mutation_p.E56K NM_005924 NP_005915 P50222 MEOX2_HUMAN mesenchyme homeobox 2 56 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) ATGCCCTCTTCGTTGGGGTAT 0.398 4 15 --- --- --- --- PASS HDAC9 9734 broad.mit.edu 37 7 18684330 18684330 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:18684330G>T uc003suh.2 + 8 981 c.940G>T c.(940-942)GAT>TAT p.D314Y HDAC9_uc003sue.2_Missense_Mutation_p.D314Y|HDAC9_uc011jyd.1_Missense_Mutation_p.D314Y|HDAC9_uc003sui.2_Missense_Mutation_p.D317Y|HDAC9_uc003suj.2_Missense_Mutation_p.D273Y|HDAC9_uc011jya.1_Missense_Mutation_p.D311Y|HDAC9_uc003sua.1_Missense_Mutation_p.D292Y|HDAC9_uc011jyb.1_Missense_Mutation_p.D270Y|HDAC9_uc003sud.1_Missense_Mutation_p.D314Y|HDAC9_uc011jyc.1_Missense_Mutation_p.D273Y|HDAC9_uc003suf.1_Missense_Mutation_p.D345Y|HDAC9_uc010kud.1_Missense_Mutation_p.D317Y|HDAC9_uc011jye.1_Missense_Mutation_p.D286Y|HDAC9_uc011jyf.1_Missense_Mutation_p.D237Y|HDAC9_uc010kue.1_Missense_Mutation_p.D57Y NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 314 Interaction with MAPK10 (By similarity). B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) AATTCATGAAGATTCCATGAA 0.403 16 35 --- --- --- --- PASS HDAC9 9734 broad.mit.edu 37 7 18875092 18875092 + Missense_Mutation SNP T G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:18875092T>G uc003suh.2 + 19 2501 c.2460T>G c.(2458-2460)GAT>GAG p.D820E HDAC9_uc003sue.2_Missense_Mutation_p.D820E|HDAC9_uc011jyd.1_Missense_Mutation_p.D820E|HDAC9_uc003sui.2_Missense_Mutation_p.D823E|HDAC9_uc003suj.2_Missense_Mutation_p.D779E|HDAC9_uc003suk.2_Missense_Mutation_p.D68E NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 820 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) CCCTGTAGGATGTTCACCATG 0.448 8 20 --- --- --- --- PASS ITGB8 3696 broad.mit.edu 37 7 20418838 20418838 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:20418838C>T uc003suu.2 + 4 1258 c.553C>T c.(553-555)CGT>TGT p.R185C ITGB8_uc011jyh.1_Missense_Mutation_p.R50C|ITGB8_uc003sut.2_Missense_Mutation_p.R185C NM_002214 NP_002205 P26012 ITB8_HUMAN integrin, beta 8 precursor 185 VWFA.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity skin(3) 3 CCGTGACTTTCGTCTTGGATT 0.363 17 24 --- --- --- --- PASS ABCB5 340273 broad.mit.edu 37 7 20683155 20683155 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:20683155C>T uc010kuh.2 + 7 815 c.578C>T c.(577-579)TCG>TTG p.S193L NM_001163941 NP_001157413 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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 TCTACTTTTTCGATTGGCCTG 0.423 40 61 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21778373 21778373 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:21778373G>A uc003svc.2 + 48 7752 c.7721G>A c.(7720-7722)GGA>GAA p.G2574E NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2574 AAA 3 (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 GGTCCTGGAGGAAATAAAAAA 0.383 Kartagener_syndrome 4 6 --- --- --- --- PASS CHN2 1124 broad.mit.edu 37 7 29438081 29438081 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:29438081G>A uc003szz.2 + 5 706 c.269G>A c.(268-270)GGA>GAA p.G90E CHN2_uc011jzs.1_Missense_Mutation_p.G165E|CHN2_uc010kva.2_Intron|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Missense_Mutation_p.G55E|CHN2_uc011jzt.1_Missense_Mutation_p.G103E|CHN2_uc010kvd.2_Intron|CHN2_uc011jzu.1_Missense_Mutation_p.G75E NM_004067 NP_004058 P52757 CHIO_HUMAN beta chimerin isoform 2 90 SH2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2) 2 CGGCAACCAGGATGCTACACG 0.493 14 30 --- --- --- --- PASS CHN2 1124 broad.mit.edu 37 7 29539651 29539651 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:29539651C>T uc003szz.2 + 9 1345 c.908C>T c.(907-909)GCA>GTA p.A303V CHN2_uc011jzs.1_Missense_Mutation_p.A378V|CHN2_uc010kva.2_Missense_Mutation_p.A73V|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Missense_Mutation_p.A268V|CHN2_uc011jzt.1_Missense_Mutation_p.A316V|CHN2_uc010kvd.2_Missense_Mutation_p.A159V|CHN2_uc011jzu.1_Missense_Mutation_p.A288V|CHN2_uc010kvg.2_Missense_Mutation_p.A167V|CHN2_uc010kvh.2_Intron|CHN2_uc010kvi.2_Missense_Mutation_p.A167V|CHN2_uc010kve.2_Missense_Mutation_p.A167V|CHN2_uc003taa.2_Missense_Mutation_p.A167V|CHN2_uc010kvf.2_Intron|CHN2_uc010kvj.2_Missense_Mutation_p.A122V|CHN2_uc010kvk.2_Intron|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Missense_Mutation_p.A122V|CHN2_uc011jzv.1_Missense_Mutation_p.A96V NM_004067 NP_004058 P52757 CHIO_HUMAN beta chimerin isoform 2 303 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2) 2 GAAATTGAAGCAAGAGGTTTG 0.373 7 17 --- --- --- --- PASS WIPF3 644150 broad.mit.edu 37 7 29918688 29918688 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:29918688C>T uc003taj.1 + 3 287 c.287C>T c.(286-288)CCC>CTC p.P96L NM_001080529 NP_001073998 A6NGB9 WIPF3_HUMAN WAS/WASL interacting protein family, member 3 96 ovary(1) 1 AGCACACCTCCCACCCTGGGA 0.517 13 7 --- --- --- --- PASS FAM188B 84182 broad.mit.edu 37 7 30831042 30831042 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:30831042C>T uc003tbt.2 + 5 1002 c.925C>T c.(925-927)CCC>TCC p.P309S FAM188B_uc010kwe.2_Missense_Mutation_p.P280S NM_032222 NP_115598 Q4G0A6 F188B_HUMAN hypothetical protein LOC84182 309 0 GCCGAGGGATCCCTCCGAGGA 0.612 9 12 --- --- --- --- PASS ADCYAP1R1 117 broad.mit.edu 37 7 31132350 31132350 + Splice_Site SNP G C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:31132350G>C uc003tca.1 + 13 1269 c.1046_splice c.e13+1 p.L349_splice ADCYAP1R1_uc003tcb.1_Splice_Site_p.L328_splice|ADCYAP1R1_uc003tcc.1_Splice_Site_p.L349_splice|ADCYAP1R1_uc003tcd.1_Splice_Site_p.F349_splice|ADCYAP1R1_uc003tce.1_Splice_Site_p.F349_splice|ADCYAP1R1_uc003tcf.1_Splice_Site_p.L51_splice NM_001118 NP_001109 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity ovary(1) 1 GCATCTACTTGTAAGTACCAT 0.507 10 9 --- --- --- --- PASS NEUROD6 63974 broad.mit.edu 37 7 31377977 31377977 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:31377977C>T uc003tch.2 - 2 1259 c.906G>A c.(904-906)CAG>CAA p.Q302Q NM_022728 NP_073565 Q96NK8 NDF6_HUMAN neurogenic differentiation 6 302 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2) 2 ACATGGCACCCTGCCCAAGGG 0.478 6 22 --- --- --- --- PASS NEUROD6 63974 broad.mit.edu 37 7 31378752 31378752 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:31378752C>T uc003tch.2 - 2 484 c.131G>A c.(130-132)CGA>CAA p.R44Q NM_022728 NP_073565 Q96NK8 NDF6_HUMAN neurogenic differentiation 6 44 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2) 2 GCTCTTTCCTCGAAGGACAAT 0.333 25 58 --- --- --- --- PASS CCDC129 223075 broad.mit.edu 37 7 31682588 31682588 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:31682588G>A uc003tcj.1 + 11 2597 c.1604G>A c.(1603-1605)AGG>AAG p.R535K CCDC129_uc011kad.1_Missense_Mutation_p.R545K|CCDC129_uc003tci.1_Missense_Mutation_p.R386K|CCDC129_uc011kae.1_Missense_Mutation_p.R561K|CCDC129_uc003tck.1_Missense_Mutation_p.R443K NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 535 0 GAATGCCCAAGGAAAGACAGC 0.547 33 111 --- --- --- --- PASS BBS9 27241 broad.mit.edu 37 7 33427609 33427609 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:33427609G>A uc003tdn.1 + 19 2481 c.1968G>A c.(1966-1968)CGG>CGA p.R656R BBS9_uc003tdo.1_Silent_p.R621R|BBS9_uc003tdp.1_Silent_p.R651R|BBS9_uc003tdq.1_Silent_p.R616R|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Silent_p.R180R|BBS9_uc003tds.1_Silent_p.R79R|BBS9_uc003tdt.2_RNA NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 656 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) TGCAGCTACGGATAAATGGTG 0.318 Bardet-Biedl_syndrome 28 93 --- --- --- --- PASS EPDR1 54749 broad.mit.edu 37 7 37988542 37988542 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:37988542C>T uc003tfp.2 + 2 749 c.730C>T c.(730-732)CCT>TCT p.P244S EPDR1_uc003tfq.2_Intron|EPDR1_uc010kxh.2_Missense_Mutation_p.P63S NM_017549 NP_060019 Q9UM22 EPDR1_HUMAN ependymin related protein 1 precursor 124 cell-matrix adhesion extracellular region calcium ion binding upper_aerodigestive_tract(1) 1 GCCCTGGGATCCTCTTGACAT 0.488 17 52 --- --- --- --- PASS AMPH 273 broad.mit.edu 37 7 38475876 38475876 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:38475876G>A uc003tgu.2 - 12 1199 c.1130C>T c.(1129-1131)TCT>TTT p.S377F AMPH_uc003tgv.2_Missense_Mutation_p.S377F|AMPH_uc003tgt.2_Missense_Mutation_p.S130F NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 377 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 TGATACCTGAGACATGGGTGA 0.463 16 24 --- --- --- --- PASS HECW1 23072 broad.mit.edu 37 7 43506110 43506110 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:43506110C>T uc003tid.1 + 15 3461 c.2856C>T c.(2854-2856)TCC>TCT p.S952S HECW1_uc011kbi.1_Silent_p.S918S NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 952 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 TGCTGCAGTCCCCAGCGGTCA 0.493 15 36 --- --- --- --- PASS HECW1 23072 broad.mit.edu 37 7 43594213 43594213 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:43594213G>A uc003tid.1 + 29 5138 c.4533G>A c.(4531-4533)GTG>GTA p.V1511V HECW1_uc011kbi.1_Silent_p.V1477V NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 1511 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 GGCATCTTGTGATCCGCTGGT 0.388 6 12 --- --- --- --- PASS URGCP 55665 broad.mit.edu 37 7 43917324 43917324 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:43917324G>A uc003tiw.2 - 6 1795 c.1738C>T c.(1738-1740)CCG>TCG p.P580S URGCP_uc003tiu.2_Missense_Mutation_p.P537S|URGCP_uc003tiv.2_Missense_Mutation_p.P505S|URGCP_uc003tix.2_Missense_Mutation_p.P571S|URGCP_uc003tiy.2_Missense_Mutation_p.P537S|URGCP_uc003tiz.2_Missense_Mutation_p.P537S|URGCP_uc011kbj.1_Missense_Mutation_p.P537S NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 580 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 CTCAGTCGCGGCTGGGCCACC 0.657 11 12 --- --- --- --- PASS MYL7 58498 broad.mit.edu 37 7 44178574 44178574 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:44178574G>A uc003tkg.2 - 7 486 c.474C>T c.(472-474)ATC>ATT p.I158I NM_021223 NP_067046 Q01449 MLRA_HUMAN myosin light chain 2a 158 EF-hand 3. actin filament-based movement|smooth muscle contraction A band|myosin complex ATPase activity, coupled|calcium ion binding|microfilament motor activity 0 ACTTGTAGTCGATGTTCCCCG 0.617 20 30 --- --- --- --- PASS GCK 2645 broad.mit.edu 37 7 44187324 44187324 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:44187324G>A uc003tkl.2 - 7 1258 c.788C>T c.(787-789)TCC>TTC p.S263F GCK_uc003tkh.1_5'Flank|GCK_uc003tki.1_5'Flank|GCK_uc003tkj.1_Missense_Mutation_p.S262F|GCK_uc003tkk.1_Missense_Mutation_p.S264F NM_000162 NP_000153 P35557 HXK4_HUMAN glucokinase isoform 1 263 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding skin(3)|lung(1) 4 CAGCTCGCCGGAGTCCCCGAA 0.632 16 41 --- --- --- --- PASS DDX56 54606 broad.mit.edu 37 7 44613194 44613194 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:44613194G>A uc003tlg.2 - 2 853 c.210C>T c.(208-210)CTC>CTT p.L70L DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Silent_p.L6L|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Silent_p.L70L|DDX56_uc010kyh.1_RNA NM_019082 NP_061955 Q9NY93 DDX56_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 70 Helicase ATP-binding. rRNA processing nucleolus ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding upper_aerodigestive_tract(1) 1 CCTTCCTATGGAGCAACAGCT 0.612 26 58 --- --- --- --- PASS OGDH 4967 broad.mit.edu 37 7 44721341 44721341 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:44721341G>T uc003tln.2 + 10 1338 c.1229G>T c.(1228-1230)GGG>GTG p.G410V OGDH_uc011kbx.1_Missense_Mutation_p.G406V|OGDH_uc011kby.1_Missense_Mutation_p.G260V|OGDH_uc003tlp.2_Missense_Mutation_p.G421V|OGDH_uc011kbz.1_Missense_Mutation_p.G205V|OGDH_uc003tlo.1_Missense_Mutation_p.G243V NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 410 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) CTGTTGCATGGGGATGCTGCA 0.517 5 73 --- --- --- --- PASS MYO1G 64005 broad.mit.edu 37 7 45004658 45004658 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:45004658G>A uc003tmh.2 - 18 2556 c.2412C>T c.(2410-2412)ATC>ATT p.I804I MYO1G_uc003tmf.2_Silent_p.I247I|MYO1G_uc003tmg.2_Silent_p.I566I|MYO1G_uc010kym.2_Silent_p.I689I NM_033054 NP_149043 B0I1T2 MYO1G_HUMAN myosin IG 804 myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|ovary(1)|pancreas(1) 4 CTGAAGGGGGGATGTTCTTCA 0.662 15 15 --- --- --- --- PASS C7orf40 285958 broad.mit.edu 37 7 45025016 45025016 + RNA SNP A C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:45025016A>C uc003tmk.3 - 1 c.1221T>G C7orf40_uc003tml.3_Intron|SNORA9_uc003tmm.2_RNA Homo sapiens cDNA FLJ38860 fis, clone MESAN2011977. 0 TGGATGGAGCAGGGCAAGGCC 0.458 4 21 --- --- --- --- PASS IGFBP3 3486 broad.mit.edu 37 7 45956837 45956837 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:45956837G>A uc003tns.2 - 2 737 c.605C>T c.(604-606)TCC>TTC p.S202F IGFBP3_uc003tnq.2_RNA|IGFBP3_uc003tnr.2_Missense_Mutation_p.S208F|IGFBP3_uc003tnt.2_Missense_Mutation_p.S105F NM_000598 NP_000589 P17936 IBP3_HUMAN insulin-like growth factor binding protein 3 202 Ser/Thr-rich. negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth nucleus insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity large_intestine(2)|lung(1) 3 Mecasermin(DB01277) CTTGGACTCGGAGGAGAAGTT 0.493 OREG0018049 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 50 73 --- --- --- --- PASS C7orf65 401335 broad.mit.edu 37 7 47698586 47698586 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:47698586G>A uc010kyp.1 + 3 251 c.216G>A c.(214-216)AGG>AGA p.R72R NM_001123065 NP_001116537 Q6ZTY9 CG065_HUMAN hypothetical protein LOC401335 72 0 GGGGAAGCAGGGAGCTGCTAT 0.507 11 25 --- --- --- --- PASS PKD1L1 168507 broad.mit.edu 37 7 47835608 47835608 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:47835608C>T uc003tny.1 - 55 8334 c.8334G>A c.(8332-8334)GAG>GAA p.E2778E C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 2778 Cytoplasmic (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 CCATCTCAGCCTCTTCCAACT 0.398 10 35 --- --- --- --- PASS PKD1L1 168507 broad.mit.edu 37 7 47937673 47937673 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:47937673G>A uc003tny.1 - 14 2183 c.2183C>T c.(2182-2184)TCC>TTC p.S728F NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 728 Extracellular (Potential).|REJ. cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 AGCAGGGAGGGAGACAGGGAG 0.552 10 20 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48259101 48259101 + Silent SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:48259101A>G uc003toq.2 + 4 463 c.438A>G c.(436-438)CCA>CCG p.P146P ABCA13_uc003top.2_Silent_p.P146P|ABCA13_uc010kyr.2_5'UTR NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 146 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CCAACACTCCAGGCAAGTAAA 0.428 41 115 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48267014 48267014 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:48267014C>T uc003toq.2 + 6 649 c.624C>T c.(622-624)ACC>ACT p.T208T ABCA13_uc003top.2_Silent_p.T208T|ABCA13_uc010kyr.2_5'UTR NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 208 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TTCTCCAGACCATTTTGAAGT 0.333 22 59 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48273711 48273711 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:48273711C>T uc003toq.2 + 8 885 c.860C>T c.(859-861)ACG>ATG p.T287M ABCA13_uc010kyr.2_Translation_Start_Site NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 287 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 GATCTTCACACGGAACAGATC 0.483 28 66 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48311894 48311894 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:48311894C>T uc003toq.2 + 17 2656 c.2631C>T c.(2629-2631)TTC>TTT p.F877F ABCA13_uc010kyr.2_Silent_p.F380F NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 877 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CCCAGTTGTTCCATTCAGATT 0.333 22 67 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48313813 48313813 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:48313813C>T uc003toq.2 + 17 4575 c.4550C>T c.(4549-4551)TCC>TTC p.S1517F ABCA13_uc010kyr.2_Missense_Mutation_p.S1020F NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 1517 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 GCATCTCAGTCCAATTGGAGA 0.294 8 16 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48313814 48313814 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:48313814C>T uc003toq.2 + 17 4576 c.4551C>T c.(4549-4551)TCC>TCT p.S1517S ABCA13_uc010kyr.2_Silent_p.S1020S NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 1517 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CATCTCAGTCCAATTGGAGAT 0.294 9 16 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48559636 48559636 + Splice_Site SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:48559636G>A uc003toq.2 + 53 13823 c.13798_splice c.e53-1 p.N4600_splice ABCA13_uc010kys.1_Splice_Site_p.N1675_splice|ABCA13_uc010kyt.1_Splice_Site|ABCA13_uc010kyu.1_Splice_Site_p.N330_splice NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TCACTGTGCAGAATTTACAGA 0.338 10 14 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48634393 48634393 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:48634393G>A uc003toq.2 + 58 14753 c.14728G>A c.(14728-14730)GTG>ATG p.V4910M ABCA13_uc010kys.1_Missense_Mutation_p.V1985M|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.V640M NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4910 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CTGTGCTGCGGTGCTGACCTC 0.463 39 55 --- --- --- --- PASS ZNF479 90827 broad.mit.edu 37 7 57187652 57187652 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:57187652C>T uc010kzo.2 - 5 1741 c.1470G>A c.(1468-1470)GAG>GAA p.E490E NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 490 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) TGTAGGGTTTCTCTCCAGTAT 0.393 15 36 --- --- --- --- PASS KCTD7 154881 broad.mit.edu 37 7 66103962 66103962 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:66103962C>T uc003tve.2 + 4 775 c.613C>T c.(613-615)CCG>TCG p.P205S RABGEF1_uc003tvf.2_Intron|KCTD7_uc003tvd.3_Missense_Mutation_p.P205S NM_153033 NP_694578 Q96MP8 KCTD7_HUMAN potassium channel tetramerisation domain 205 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|central_nervous_system(1) 3 CTATGAGTGTCCGCTCCTCAA 0.597 14 25 --- --- --- --- PASS AUTS2 26053 broad.mit.edu 37 7 70246667 70246667 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:70246667C>T uc003tvw.3 + 15 2814 c.2071C>T c.(2071-2073)CCA>TCA p.P691S AUTS2_uc003tvx.3_Missense_Mutation_p.P667S|AUTS2_uc011keg.1_Missense_Mutation_p.P143S NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 691 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GAGCCGCCCTCCAGGCCCCAG 0.572 35 61 --- --- --- --- PASS FZD9 8326 broad.mit.edu 37 7 72849152 72849152 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:72849152T>A uc003tyb.2 + 1 1044 c.815T>A c.(814-816)ATG>AAG p.M272K NM_003508 NP_003499 O00144 FZD9_HUMAN frizzled 9 precursor 272 Helical; Name=2; (Potential). B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding central_nervous_system(1) 1 Lung NSC(55;0.0659)|all_lung(88;0.152) TTCCTCTCCATGTGCTACAAC 0.642 34 57 --- --- --- --- PASS BAZ1B 9031 broad.mit.edu 37 7 72891522 72891522 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:72891522G>A uc003tyc.2 - 7 2614 c.2269C>T c.(2269-2271)CTC>TTC p.L757F NM_032408 NP_115784 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 757 ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 7 Lung NSC(55;0.0659)|all_lung(88;0.152) TATGTCATGAGGATCCGGTGG 0.453 22 27 --- --- --- --- PASS BAZ1B 9031 broad.mit.edu 37 7 72903596 72903596 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:72903596G>A uc003tyc.2 - 6 1164 c.819C>T c.(817-819)GTC>GTT p.V273V NM_032408 NP_115784 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 273 Mediates the tyrosine-protein kinase activity. ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 7 Lung NSC(55;0.0659)|all_lung(88;0.152) CATCTTCTACGACCCAAGGTG 0.423 26 51 --- --- --- --- PASS MLXIPL 51085 broad.mit.edu 37 7 73008301 73008301 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:73008301G>A uc003tyn.1 - 17 2501 c.2453C>T c.(2452-2454)TCC>TTC p.S818F MLXIPL_uc003tyj.1_Missense_Mutation_p.S197F|MLXIPL_uc003tyk.1_Missense_Mutation_p.S797F|MLXIPL_uc003tyl.1_Missense_Mutation_p.S816F|MLXIPL_uc003tym.1_Missense_Mutation_p.S799F|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_3'UTR NM_032951 NP_116569 Q9NP71 WBS14_HUMAN Williams Beuren syndrome chromosome region 14 818 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding pancreas(1) 1 Lung NSC(55;0.0659)|all_lung(88;0.152) CTGGCGTAGGGAGTTCAGGAC 0.612 5 22 --- --- --- --- PASS CLDN4 1364 broad.mit.edu 37 7 73245659 73245659 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:73245659C>T uc003tzi.3 + 1 467 c.128C>T c.(127-129)TCG>TTG p.S43L RFC2_uc011kfa.1_Intron|CLDN4_uc003tzh.1_RNA NM_001305 NP_001296 O14493 CLD4_HUMAN claudin 4 43 Extracellular (Potential). calcium-independent cell-cell adhesion integral to plasma membrane|tight junction identical protein binding|structural molecule activity|transmembrane receptor activity 0 Lung NSC(55;0.159) ATTGTCACCTCGCAGACCATC 0.657 7 19 --- --- --- --- PASS GTF2IRD1 9569 broad.mit.edu 37 7 73973190 73973190 + Splice_Site SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:73973190G>A uc003uaq.2 + 21 2546 c.2153_splice c.e21-1 p.G718_splice GTF2IRD1_uc010lbq.2_Splice_Site_p.G735_splice|GTF2IRD1_uc003uap.2_Splice_Site_p.G703_splice|GTF2IRD1_uc003uar.1_Splice_Site_p.G703_splice NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 isoform 1 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(4) 4 CTCGCCCACAGGGGAAGCCTT 0.627 5 14 --- --- --- --- PASS GTF2IRD1 9569 broad.mit.edu 37 7 73973191 73973191 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:73973191G>A uc003uaq.2 + 21 2546 c.2153G>A c.(2152-2154)GGG>GAG p.G718E GTF2IRD1_uc010lbq.2_Missense_Mutation_p.G735E|GTF2IRD1_uc003uap.2_Missense_Mutation_p.G703E|GTF2IRD1_uc003uar.1_Missense_Mutation_p.G703E NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 isoform 1 718 GTF2I-like 4. nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(4) 4 TCGCCCACAGGGGAAGCCTTG 0.627 5 13 --- --- --- --- PASS GTF2I 2969 broad.mit.edu 37 7 74105324 74105324 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:74105324C>T uc003uau.2 + 3 489 c.119C>T c.(118-120)TCC>TTC p.S40F GTF2I_uc003uat.2_Missense_Mutation_p.S40F|GTF2I_uc003uav.2_Missense_Mutation_p.S40F|GTF2I_uc003uaw.2_Missense_Mutation_p.S40F|GTF2I_uc003uay.2_Missense_Mutation_p.S40F|GTF2I_uc003uax.2_Missense_Mutation_p.S40F NM_032999 NP_127492 P78347 GTF2I_HUMAN general transcription factor IIi isoform 1 40 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 CTGGCCAAGTCCAAAGCCGAA 0.413 33 80 --- --- --- --- PASS NCF1 653361 broad.mit.edu 37 7 74197370 74197370 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:74197370G>A uc003ubb.2 + 6 610 c.540G>A c.(538-540)GGG>GGA p.G180G NCF1_uc010lbs.1_Silent_p.G180G|NCF1_uc011kfh.1_Missense_Mutation_p.G100R NM_000265 NP_000256 P14598 NCF1_HUMAN neutrophil cytosolic factor 1 180 SH3 1. cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation cytosol|NADPH oxidase complex|soluble fraction electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity skin(1) 1 TGTCCACGGGGGACGTGGTGG 0.637 18 25 --- --- --- --- PASS HIP1 3092 broad.mit.edu 37 7 75211415 75211415 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:75211415G>A uc003uds.1 - 6 559 c.518C>T c.(517-519)GCT>GTT p.A173V HIP1_uc011kfz.1_Missense_Mutation_p.A50V NM_005338 NP_005329 O00291 HIP1_HUMAN huntingtin interacting protein 1 173 activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1) 8 ACTTTCTCCAGCCTCGTCCAG 0.552 T PDGFRB CMML 7 17 --- --- --- --- PASS RHBDD2 57414 broad.mit.edu 37 7 75517459 75517459 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:75517459C>T uc003udw.1 + 4 971 c.887C>T c.(886-888)CCG>CTG p.P296L RHBDD2_uc003udv.1_Missense_Mutation_p.P155L NM_001040456 NP_001035546 Q6NTF9 RHBD2_HUMAN rhomboid domain containing 2 isoform a 296 integral to membrane serine-type endopeptidase activity 0 ACCTTGCCTCCGTACCAGCCT 0.662 35 65 --- --- --- --- PASS DTX2 113878 broad.mit.edu 37 7 76111997 76111997 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:76111997C>T uc003uff.3 + 5 997 c.441C>T c.(439-441)CCC>CCT p.P147P DTX2_uc011kgk.1_Silent_p.P56P|DTX2_uc003ufg.3_Silent_p.P147P|DTX2_uc003ufh.3_Silent_p.P147P|DTX2_uc003ufj.3_Silent_p.P147P NM_020892 NP_065943 Q86UW9 DTX2_HUMAN deltex 2 isoform a 147 WWE 2. Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding ovary(1)|skin(1) 2 ACTTGGCCCCCCTGGGGTACA 0.627 3 13 --- --- --- --- PASS DTX2 113878 broad.mit.edu 37 7 76132846 76132846 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:76132846C>T uc003uff.3 + 10 2049 c.1493C>T c.(1492-1494)CCC>CTC p.P498L DTX2_uc011kgk.1_Missense_Mutation_p.P407L|DTX2_uc003ufg.3_Missense_Mutation_p.P498L|DTX2_uc003ufh.3_Missense_Mutation_p.P498L|DTX2_uc003ufj.3_Missense_Mutation_p.P451L|DTX2_uc003ufk.3_Missense_Mutation_p.P129L|DTX2_uc003ufm.3_Missense_Mutation_p.P211L|DTX2_uc003ufn.3_Missense_Mutation_p.P83L NM_020892 NP_065943 Q86UW9 DTX2_HUMAN deltex 2 isoform a 498 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding ovary(1)|skin(1) 2 ATGTCGCTCCCCGGCCACGAG 0.582 5 17 --- --- --- --- PASS DTX2 113878 broad.mit.edu 37 7 76132847 76132847 + Silent SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:76132847C>A uc003uff.3 + 10 2050 c.1494C>A c.(1492-1494)CCC>CCA p.P498P DTX2_uc011kgk.1_Silent_p.P407P|DTX2_uc003ufg.3_Silent_p.P498P|DTX2_uc003ufh.3_Silent_p.P498P|DTX2_uc003ufj.3_Silent_p.P451P|DTX2_uc003ufk.3_Silent_p.P129P|DTX2_uc003ufm.3_Silent_p.P211P|DTX2_uc003ufn.3_Silent_p.P83P NM_020892 NP_065943 Q86UW9 DTX2_HUMAN deltex 2 isoform a 498 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding ovary(1)|skin(1) 2 TGTCGCTCCCCGGCCACGAGG 0.577 5 17 --- --- --- --- PASS CCDC146 57639 broad.mit.edu 37 7 76903065 76903065 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:76903065C>T uc003uga.2 + 10 1355 c.1228C>T c.(1228-1230)CAC>TAC p.H410Y CCDC146_uc010ldp.2_Intron NM_020879 NP_065930 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 410 Potential. ovary(1)|central_nervous_system(1) 2 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) GCGAGAGCTTCACAAGGAAGT 0.353 24 90 --- --- --- --- PASS PHTF2 57157 broad.mit.edu 37 7 77558484 77558484 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:77558484C>T uc003ugs.3 + 11 1304 c.1178C>T c.(1177-1179)TCT>TTT p.S393F PHTF2_uc003ugp.2_Missense_Mutation_p.S355F|PHTF2_uc003ugq.3_Missense_Mutation_p.S355F|PHTF2_uc010ldv.2_Missense_Mutation_p.S355F|PHTF2_uc003ugt.3_Missense_Mutation_p.S359F|PHTF2_uc003ugu.3_Missense_Mutation_p.S355F|PHTF2_uc003ugv.2_Missense_Mutation_p.S218F|PHTF2_uc010ldw.1_Missense_Mutation_p.S218F NM_001127357 NP_001120829 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 393 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding ovary(1) 1 AGACAGGATTCTGAGAGTGCA 0.418 22 31 --- --- --- --- PASS MAGI2 9863 broad.mit.edu 37 7 77764507 77764507 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:77764507G>A uc003ugx.2 - 17 3116 c.2862C>T c.(2860-2862)ATC>ATT p.I954I MAGI2_uc003ugy.2_Silent_p.I940I|MAGI2_uc010ldx.1_Silent_p.I547I NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 954 PDZ 5. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGATGCGTCCGATTTTATGGG 0.463 14 41 --- --- --- --- PASS MAGI2 9863 broad.mit.edu 37 7 78636505 78636505 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:78636505C>T uc003ugx.2 - 2 573 c.319G>A c.(319-321)GAC>AAC p.D107N MAGI2_uc003ugy.2_Missense_Mutation_p.D107N NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 107 cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGACGAAGGTCTTTATCAACA 0.383 14 25 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82390020 82390020 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:82390020C>T uc003uhx.2 - 24 15512 c.15223G>A c.(15223-15225)GAT>AAT p.D5075N NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4998 C2 2. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GGCTCTCGATCATGTCTGCAT 0.328 13 48 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82538253 82538253 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:82538253C>T uc003uhx.2 - 8 13666 c.13377G>A c.(13375-13377)CTG>CTA p.L4459L PCLO_uc003uhv.2_Silent_p.L4459L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4390 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GTTTTCGGTCCAGACCATGTC 0.418 20 53 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82546006 82546006 + Missense_Mutation SNP T G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:82546006T>G uc003uhx.2 - 7 11585 c.11296A>C c.(11296-11298)ATA>CTA p.I3766L PCLO_uc003uhv.2_Missense_Mutation_p.I3766L|PCLO_uc010lec.2_Missense_Mutation_p.I731L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3697 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TCTCTGTCTATGTCCTGGAGA 0.458 17 36 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82579038 82579038 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:82579038G>A uc003uhx.2 - 6 11155 c.10866C>T c.(10864-10866)GTC>GTT p.V3622V PCLO_uc003uhv.2_Silent_p.V3622V|PCLO_uc010lec.2_Silent_p.V587V NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3553 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GTGAGTAAAGGACTTTGGGGG 0.478 33 69 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82579134 82579134 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:82579134C>T uc003uhx.2 - 6 11059 c.10770G>A c.(10768-10770)AAG>AAA p.K3590K PCLO_uc003uhv.2_Silent_p.K3590K|PCLO_uc010lec.2_Silent_p.K555K NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3521 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TTGGGCGTTTCTTGTCTTTGG 0.473 20 43 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82581358 82581358 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:82581358C>T uc003uhx.2 - 5 9200 c.8911G>A c.(8911-8913)GAT>AAT p.D2971N PCLO_uc003uhv.2_Missense_Mutation_p.D2971N|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2902 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TAGTGGTCATCCCTATAACCA 0.458 40 112 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82581359 82581359 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:82581359C>T uc003uhx.2 - 5 9199 c.8910G>A c.(8908-8910)AGG>AGA p.R2970R PCLO_uc003uhv.2_Silent_p.R2970R|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2901 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AGTGGTCATCCCTATAACCAA 0.463 40 111 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82582984 82582984 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:82582984G>A uc003uhx.2 - 5 7574 c.7285C>T c.(7285-7287)CCA>TCA p.P2429S PCLO_uc003uhv.2_Missense_Mutation_p.P2429S|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2360 Poly-Pro.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GAAGTTGGTggaggaagtggt 0.234 4 4 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82584648 82584648 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:82584648G>A uc003uhx.2 - 5 5910 c.5621C>T c.(5620-5622)CCG>CTG p.P1874L PCLO_uc003uhv.2_Missense_Mutation_p.P1874L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1805 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TATTTTTTCCGGGCTTATTTC 0.388 26 61 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82764182 82764182 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:82764182G>A uc003uhx.2 - 3 2973 c.2684C>T c.(2683-2685)TCC>TTC p.S895F PCLO_uc003uhv.2_Missense_Mutation_p.S895F NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 841 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AGGCTTTGGGGACTGTTGAGG 0.542 43 121 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82764680 82764680 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:82764680A>G uc003uhx.2 - 3 2475 c.2186T>C c.(2185-2187)TTG>TCG p.L729S PCLO_uc003uhv.2_Missense_Mutation_p.L729S NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 675 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TGGCTTGGACAAAGAATCTGC 0.537 9 30 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82784886 82784886 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:82784886C>T uc003uhx.2 - 2 1360 c.1071G>A c.(1069-1071)GGG>GGA p.G357G PCLO_uc003uhv.2_Silent_p.G357G NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GCTTTGTTGTCCCTGGTGGCT 0.602 9 16 --- --- --- --- PASS SEMA3A 10371 broad.mit.edu 37 7 83634661 83634661 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:83634661C>T uc003uhz.2 - 11 1669 c.1354G>A c.(1354-1356)GGA>AGA p.G452R NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 452 Sema. axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 TTACCTGTTCCGATAAACATA 0.274 16 34 --- --- --- --- PASS GRM3 2913 broad.mit.edu 37 7 86415831 86415831 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:86415831C>T uc003uid.2 + 3 1822 c.723C>T c.(721-723)ATC>ATT p.I241I GRM3_uc010lef.2_Silent_p.I239I|GRM3_uc010leg.2_Silent_p.I113I|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 241 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) ACATCTGCATCGCTACGGCGG 0.617 7 23 --- --- --- --- PASS ABCB4 5244 broad.mit.edu 37 7 87053293 87053293 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:87053293C>T uc003uiv.1 - 17 2216 c.2140G>A c.(2140-2142)GGA>AGA p.G714R ABCB4_uc003uiw.1_Missense_Mutation_p.G714R|ABCB4_uc003uix.1_Missense_Mutation_p.G714R NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 714 Helical; (By similarity).|ABC transmembrane type-1 2. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) CATACTGTTCCCACGACAAAG 0.453 31 68 --- --- --- --- PASS ABCB1 5243 broad.mit.edu 37 7 87148714 87148714 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:87148714G>A uc003uiz.1 - 24 3273 c.2855C>T c.(2854-2856)TCC>TTC p.S952F ABCB1_uc011khc.1_Missense_Mutation_p.S888F NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 952 Helical; (Potential).|ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TCCAGCATAGGAAAAATACAT 0.353 21 37 --- --- --- --- PASS MGC26647 219557 broad.mit.edu 37 7 88424012 88424012 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:88424012C>T uc003ujv.2 - 2 427 c.245G>A c.(244-246)GGA>GAA p.G82E ZNF804B_uc011khi.1_Intron NM_152706 NP_689919 Q8TBZ9 CG062_HUMAN hypothetical protein LOC219557 82 0 Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169) STAD - Stomach adenocarcinoma(171;0.229) CACTGCTTCTCCTAGGTGATG 0.398 14 30 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88963589 88963589 + Silent SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:88963589A>T uc011khi.1 + 4 1831 c.1293A>T c.(1291-1293)GCA>GCT p.A431A NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 431 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TAAAAGAAGCATGTACCCATA 0.388 HNSCC(36;0.09) 21 29 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88965077 88965077 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:88965077C>T uc011khi.1 + 4 3319 c.2781C>T c.(2779-2781)ATC>ATT p.I927I NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 927 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CAGCAAAAATCCTTTTAGAAA 0.413 HNSCC(36;0.09) 75 147 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88965831 88965831 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:88965831C>T uc011khi.1 + 4 4073 c.3535C>T c.(3535-3537)CGA>TGA p.R1179* NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1179 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AAAGCATCTTCGAGTTTTGCC 0.483 HNSCC(36;0.09) 18 38 --- --- --- --- PASS C7orf63 79846 broad.mit.edu 37 7 89909084 89909084 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:89909084G>A uc010lep.2 + 12 1500 c.1249G>A c.(1249-1251)GAA>AAA p.E417K C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_Missense_Mutation_p.E92K|C7orf63_uc011khj.1_Missense_Mutation_p.E399K|C7orf63_uc011khk.1_5'UTR NM_001039706 NP_001034795 A5D8W1 CG063_HUMAN hypothetical protein LOC79846 isoform 1 417 binding ovary(1) 1 AGCACAGCATGAAGAATTACA 0.388 OREG0003793 type=REGULATORY REGION|Gene=AK024715|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 27 75 --- --- --- --- PASS AKAP9 10142 broad.mit.edu 37 7 91674509 91674509 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:91674509C>T uc003ulg.2 + 21 5575 c.5350C>T c.(5350-5352)CAT>TAT p.H1784Y AKAP9_uc003ulf.2_Missense_Mutation_p.H1784Y|AKAP9_uc003uli.2_Missense_Mutation_p.H1409Y NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 1796 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GTCATGTGTCCATGAGGAACA 0.408 T BRAF papillary thyroid 18 34 --- --- --- --- PASS PEX1 5189 broad.mit.edu 37 7 92146607 92146607 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:92146607G>A uc003uly.2 - 5 1318 c.1222C>T c.(1222-1224)CAT>TAT p.H408Y PEX1_uc011khr.1_Missense_Mutation_p.H200Y|PEX1_uc010ley.2_Missense_Mutation_p.H408Y|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 408 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TTCCCAAGATGGAGAACTTCT 0.328 22 51 --- --- --- --- PASS CALCR 799 broad.mit.edu 37 7 93098044 93098044 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:93098044C>T uc003umv.1 - 7 819 c.558G>A c.(556-558)GGG>GGA p.G186G CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Silent_p.G168G|CALCR_uc003umw.2_Silent_p.G168G NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 168 Helical; Name=1; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) ACACGAAAATCCCCAGGGAAA 0.388 16 36 --- --- --- --- PASS COL1A2 1278 broad.mit.edu 37 7 94035589 94035589 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:94035589G>A uc003ung.1 + 12 1039 c.568G>A c.(568-570)GGA>AGA p.G190R COL1A2_uc011kib.1_Intron|COL1A2_uc010lfh.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 190 Missing (in OI4). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TGGATTGAAGGGACAGCCCGG 0.363 HNSCC(75;0.22) 8 23 --- --- --- --- PASS COL1A2 1278 broad.mit.edu 37 7 94052291 94052291 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:94052291C>T uc003ung.1 + 40 2897 c.2426C>T c.(2425-2427)CCC>CTC p.P809L COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 809 Missing (in OI2A).|Missing (in OI2A). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CCTCCTGGTCCCCCTGGTCCT 0.537 HNSCC(75;0.22) 40 85 --- --- --- --- PASS COL1A2 1278 broad.mit.edu 37 7 94054481 94054481 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:94054481C>T uc003ung.1 + 42 3197 c.2726C>T c.(2725-2727)CCT>CTT p.P909L COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 909 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CGTGGTCCTCCTGGTGCTGTG 0.517 HNSCC(75;0.22) 12 25 --- --- --- --- PASS CASD1 64921 broad.mit.edu 37 7 94180720 94180720 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:94180720G>A uc003uni.3 + 15 2113 c.1886G>A c.(1885-1887)GGA>GAA p.G629E CASD1_uc003unj.3_Missense_Mutation_p.G629E NM_022900 NP_075051 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 precursor 629 integral to membrane ovary(2) 2 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) CTTTCTGAAGGAAAGGGTGAA 0.303 4 11 --- --- --- --- PASS SGCE 8910 broad.mit.edu 37 7 94232748 94232748 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:94232748C>T uc003unl.2 - 6 790 c.679G>A c.(679-681)GGT>AGT p.G227S SGCE_uc003unk.2_Missense_Mutation_p.G59S|SGCE_uc003unm.2_Missense_Mutation_p.G227S|SGCE_uc003unn.2_Missense_Mutation_p.G227S|SGCE_uc011kic.1_Missense_Mutation_p.G186S|SGCE_uc011kid.1_Missense_Mutation_p.G263S NM_003919 NP_003910 O43556 SGCE_HUMAN sarcoglycan, epsilon isoform 2 227 Extracellular (Potential). cell-matrix adhesion|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma calcium ion binding ovary(1) 1 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) ACATCTGCACCAACCATGACA 0.348 8 23 --- --- --- --- PASS PEG10 23089 broad.mit.edu 37 7 94293051 94293051 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:94293051C>T uc011kie.1 + 2 628 c.411C>T c.(409-411)CTC>CTT p.L137L NM_001040152 NP_001035242 Q86TG7 PEG10_HUMAN paternally expressed 10 isoform RF1 61 apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway cytoplasm|nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) ACATCGAGCTCCGCGGTGCTG 0.592 5 9 --- --- --- --- PASS PEG10 23089 broad.mit.edu 37 7 94293052 94293052 + Missense_Mutation SNP C T T rs147863226 by1000genomes TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:94293052C>T uc011kie.1 + 2 629 c.412C>T c.(412-414)CGC>TGC p.R138C NM_001040152 NP_001035242 Q86TG7 PEG10_HUMAN paternally expressed 10 isoform RF1 62 apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway cytoplasm|nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) CATCGAGCTCCGCGGTGCTGC 0.597 5 9 --- --- --- --- PASS PEG10 23089 broad.mit.edu 37 7 94293196 94293196 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:94293196G>A uc011kie.1 + 2 773 c.556G>A c.(556-558)GAT>AAT p.D186N NM_001040152 NP_001035242 Q86TG7 PEG10_HUMAN paternally expressed 10 isoform RF1 110 Necessary for interaction with ALK1. apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway cytoplasm|nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) GAGCACCAGGGATTTCTCAGT 0.567 10 38 --- --- --- --- PASS PON1 5444 broad.mit.edu 37 7 94937442 94937442 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:94937442G>A uc003uns.2 - 6 676 c.579C>T c.(577-579)TCC>TCT p.S193S PON1_uc011kih.1_Silent_p.S193S NM_000446 NP_000437 P27169 PON1_HUMAN paraoxonase 1 precursor 193 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity pancreas(1) 1 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) ACATCTCCCAGGATTGTAAGT 0.398 22 54 --- --- --- --- PASS ASB4 51666 broad.mit.edu 37 7 95167003 95167003 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:95167003C>T uc011kij.1 + 5 1213 c.1213C>T c.(1213-1215)CCT>TCT p.P405S NM_016116 NP_057200 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box-containing protein 4 405 SOCS box. intracellular signal transduction central_nervous_system(1) 1 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) TAGAGCAATTCCTTTGCTTTC 0.413 21 64 --- --- --- --- PASS DYNC1I1 1780 broad.mit.edu 37 7 95616462 95616462 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:95616462C>T uc003uoc.3 + 9 1166 c.889C>T c.(889-891)CTC>TTC p.L297F DYNC1I1_uc003uod.3_Missense_Mutation_p.L280F|DYNC1I1_uc003uob.2_Missense_Mutation_p.L260F|DYNC1I1_uc003uoe.3_Missense_Mutation_p.L277F|DYNC1I1_uc010lfl.2_Missense_Mutation_p.L286F NM_004411 NP_004402 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 297 WD 1. vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity ovary(3)|kidney(1) 4 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) GGACTGGTCCCTCCAGGTAAG 0.438 63 119 --- --- --- --- PASS TAC1 6863 broad.mit.edu 37 7 97363037 97363037 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:97363037G>A uc003uop.3 + 3 372 c.126G>A c.(124-126)GAG>GAA p.E42E TAC1_uc003uoq.3_Silent_p.E42E|TAC1_uc003uor.3_Silent_p.E42E|TAC1_uc003uos.3_Silent_p.E42E NM_003182 NP_003173 P20366 TKN1_HUMAN tachykinin 1 isoform beta precursor 42 detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway extracellular space 0 all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384) Bacitracin(DB00626) TCTCCCAGGAGGAACTGCCGG 0.607 4 29 --- --- --- --- PASS ASNS 440 broad.mit.edu 37 7 97481714 97481714 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:97481714C>T uc003uot.3 - 13 2049 c.1543G>A c.(1543-1545)GGA>AGA p.G515R ASNS_uc011kin.1_Missense_Mutation_p.G432R|ASNS_uc003uou.3_Missense_Mutation_p.G515R|ASNS_uc003uov.3_Missense_Mutation_p.G515R|ASNS_uc011kio.1_Missense_Mutation_p.G494R|ASNS_uc003uow.3_Missense_Mutation_p.G494R|ASNS_uc003uox.3_Missense_Mutation_p.G432R NM_133436 NP_597680 P08243 ASNS_HUMAN asparagine synthetase 515 Asparagine synthetase. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TAGTAATATCCTTCTTTGGTT 0.453 27 67 --- --- --- --- PASS ASNS 440 broad.mit.edu 37 7 97482657 97482657 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:97482657G>A uc003uot.3 - 11 1786 c.1280C>T c.(1279-1281)TCC>TTC p.S427F ASNS_uc011kin.1_Missense_Mutation_p.S344F|ASNS_uc003uou.3_Missense_Mutation_p.S427F|ASNS_uc003uov.3_Missense_Mutation_p.S427F|ASNS_uc011kio.1_Missense_Mutation_p.S406F|ASNS_uc003uow.3_Missense_Mutation_p.S406F|ASNS_uc003uox.3_Missense_Mutation_p.S344F NM_133436 NP_597680 P08243 ASNS_HUMAN asparagine synthetase 427 Asparagine synthetase. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CAAGTAATAGGAAGAAAATCG 0.343 18 40 --- --- --- --- PASS TECPR1 25851 broad.mit.edu 37 7 97854118 97854118 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:97854118G>A uc003upg.2 - 19 2890 c.2685C>T c.(2683-2685)TTC>TTT p.F895F NM_015395 NP_056210 Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 895 integral to membrane protein binding pancreas(1) 1 CTTACGCAGGGAAGTCGCTGG 0.632 3 3 --- --- --- --- PASS PTCD1 26024 broad.mit.edu 37 7 99026789 99026789 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:99026789G>A uc003uqh.2 - 5 983 c.852C>T c.(850-852)ACC>ACT p.T284T PTCD1_uc011kiw.1_Silent_p.T333T NM_015545 NP_056360 O75127 PTCD1_HUMAN pentatricopeptide repeat domain 1 284 PPR 5. ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) GGAAACTGAAGGTCTCCTCTG 0.522 16 54 --- --- --- --- PASS PTCD1 26024 broad.mit.edu 37 7 99026790 99026790 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:99026790G>A uc003uqh.2 - 5 982 c.851C>T c.(850-852)ACC>ATC p.T284I PTCD1_uc011kiw.1_Missense_Mutation_p.T333I NM_015545 NP_056360 O75127 PTCD1_HUMAN pentatricopeptide repeat domain 1 284 PPR 5. ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) GAAACTGAAGGTCTCCTCTGT 0.517 16 53 --- --- --- --- PASS CYP3A7 1551 broad.mit.edu 37 7 99313520 99313520 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:99313520C>T uc003uru.2 - 7 636 c.531G>A c.(529-531)GGG>GGA p.G177G ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron NM_000765 NP_000756 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, 177 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1) 1 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) TGCTGTAGGCCCCAAAGACGC 0.458 21 56 --- --- --- --- PASS ZCWPW1 55063 broad.mit.edu 37 7 99999549 99999549 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:99999549C>T uc003uut.2 - 17 1835 c.1587G>A c.(1585-1587)AGG>AGA p.R529R ZCWPW1_uc011kjq.1_Silent_p.R409R|ZCWPW1_uc003uur.2_Intron|ZCWPW1_uc003uus.2_Intron|ZCWPW1_uc011kjr.1_Intron|ZCWPW1_uc011kjp.1_RNA NM_017984 NP_060454 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 529 zinc ion binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGCCTTCTTTCCTTCCCATTC 0.542 31 67 --- --- --- --- PASS MEPCE 56257 broad.mit.edu 37 7 100028584 100028584 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:100028584C>T uc003uuw.2 + 1 1056 c.943C>T c.(943-945)CCC>TCC p.P315S ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_5'UTR NM_019606 NP_062552 Q7L2J0 MEPCE_HUMAN bin3, bicoid-interacting 3 315 methyltransferase activity upper_aerodigestive_tract(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGCCCCCCAACCCTATGAACT 0.657 19 55 --- --- --- --- PASS MEPCE 56257 broad.mit.edu 37 7 100028585 100028585 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:100028585C>T uc003uuw.2 + 1 1057 c.944C>T c.(943-945)CCC>CTC p.P315L ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_5'UTR NM_019606 NP_062552 Q7L2J0 MEPCE_HUMAN bin3, bicoid-interacting 3 315 methyltransferase activity upper_aerodigestive_tract(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCCCCCCAACCCTATGAACTC 0.657 20 56 --- --- --- --- PASS ZAN 7455 broad.mit.edu 37 7 100350724 100350724 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:100350724C>T uc003uwj.2 + 14 3161 c.2996C>T c.(2995-2997)GCC>GTC p.A999V ZAN_uc003uwk.2_Missense_Mutation_p.A999V|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 999 66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AAGCTCACAGCCCTGAGGCCA 0.572 38 49 --- --- --- --- PASS ZAN 7455 broad.mit.edu 37 7 100377269 100377269 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:100377269C>T uc003uwj.2 + 36 6684 c.6519C>T c.(6517-6519)TTC>TTT p.F2173F ZAN_uc003uwk.2_Silent_p.F2173F|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Intron NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 2173 Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TCTGTGAGTTCGGAGGTCTCT 0.652 3 6 --- --- --- --- PASS EPHB4 2050 broad.mit.edu 37 7 100405041 100405041 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:100405041G>A uc003uwn.1 - 13 2771 c.2280C>T c.(2278-2280)GGC>GGT p.G760G EPHB4_uc003uwm.1_Silent_p.G667G|EPHB4_uc010lhj.1_Silent_p.G760G NM_004444 NP_004435 P54760 EPHB4_HUMAN EPH receptor B4 precursor 760 Cytoplasmic (Potential).|Protein kinase. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1) 15 Lung NSC(181;0.041)|all_lung(186;0.0581) ATCGGGAAAGGCCAAAGTCAG 0.562 21 51 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100678116 100678116 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:100678116C>T uc003uxp.1 + 3 3472 c.3419C>T c.(3418-3420)TCA>TTA p.S1140L MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1140 Extracellular (Potential).|59 X approximate tandem repeats.|17.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GAAGCCAGTTCATCTCCTACA 0.547 92 214 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100681856 100681856 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:100681856A>G uc003uxp.1 + 3 7212 c.7159A>G c.(7159-7161)ATG>GTG p.M2387V MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2387 Extracellular (Potential).|59 X approximate tandem repeats.|38.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CGATACTAGCATGCCAACCTC 0.493 75 210 --- --- --- --- PASS CUX1 1523 broad.mit.edu 37 7 101840495 101840495 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:101840495C>T uc003uyx.3 + 15 1842 c.1804C>T c.(1804-1806)CGT>TGT p.R602C CUX1_uc003uys.3_Missense_Mutation_p.R613C|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 602 CUT 1. negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R602R(1) ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 ACTGACTGTTCGTGGCAAGGA 0.512 21 35 --- --- --- --- PASS ORAI2 80228 broad.mit.edu 37 7 102087217 102087217 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:102087217C>T uc010lhz.1 + 4 718 c.483C>T c.(481-483)TTC>TTT p.F161F ORAI2_uc003uzj.2_Silent_p.F161F|ORAI2_uc003uzk.2_Silent_p.F161F|ORAI2_uc011kks.1_Silent_p.F84F NM_001126340 NP_001119812 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 161 Helical; (Potential). integral to membrane protein binding ovary(1)|kidney(1) 2 TCCTACTCTTCCTGGCCGAGG 0.662 41 73 --- --- --- --- PASS LRWD1 222229 broad.mit.edu 37 7 102106347 102106347 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:102106347C>T uc003uzn.2 + 2 302 c.164C>T c.(163-165)TCT>TTT p.S55F ALKBH4_uc003uzl.2_5'Flank|ALKBH4_uc003uzm.2_5'Flank|LRWD1_uc003uzo.2_5'UTR NM_152892 NP_690852 Q9UFC0 LRWD1_HUMAN leucine-rich repeats and WD repeat domain 55 LRR 2. chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin chromatin binding|methyl-CpG binding|methylated histone residue binding skin(1) 1 CTTGACCTGTCTAACAACCAC 0.627 6 27 --- --- --- --- PASS PSMC2 5701 broad.mit.edu 37 7 103008052 103008052 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:103008052C>T uc003vbs.2 + 10 1107 c.1037C>T c.(1036-1038)CCC>CTC p.P346L SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.P209L NM_002803 NP_002794 P35998 PRS7_HUMAN proteasome 26S ATPase subunit 2 346 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding 0 TTTAGCTTGCCCGATCTAGAG 0.358 5 21 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103123325 103123325 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:103123325G>A uc003vca.2 - 63 10435 c.10275C>T c.(10273-10275)GTC>GTT p.V3425V RELN_uc010liz.2_Silent_p.V3425V NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 3425 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTCACAGGACGACCTCCACAT 0.473 17 59 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103230142 103230142 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:103230142C>T uc003vca.2 - 28 4206 c.4046G>A c.(4045-4047)GGA>GAA p.G1349E RELN_uc010liz.2_Missense_Mutation_p.G1349E NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1349 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCTGGAGTTTCCTTCGCATCC 0.478 35 75 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103252186 103252186 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:103252186C>T uc003vca.2 - 21 2927 c.2767G>A c.(2767-2769)GGA>AGA p.G923R RELN_uc010liz.2_Missense_Mutation_p.G923R NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 923 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TAGGATGCTCCTATCTGCATT 0.423 16 35 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103322649 103322649 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:103322649G>A uc003vca.2 - 11 1363 c.1203C>T c.(1201-1203)TTC>TTT p.F401F RELN_uc010liz.2_Silent_p.F401F NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 401 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TGGCAAAATTGAACTCGCTGC 0.448 22 53 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103338452 103338452 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:103338452C>T uc003vca.2 - 10 1151 c.991G>A c.(991-993)GAA>AAA p.E331K RELN_uc010liz.2_Missense_Mutation_p.E331K NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 331 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.E331K(1) ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CGAAGATTTTCCTGCTTCCAC 0.448 36 68 --- --- --- --- PASS HBP1 26959 broad.mit.edu 37 7 106836297 106836297 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:106836297G>A uc003vdy.2 + 9 1272 c.1086G>A c.(1084-1086)ATG>ATA p.M362I HBP1_uc011klv.1_Missense_Mutation_p.M372I|HBP1_uc003vdz.2_Missense_Mutation_p.M362I|HBP1_uc003vea.2_Missense_Mutation_p.M362I|HBP1_uc003veb.1_Missense_Mutation_p.M362I NM_012257 NP_036389 O60381 HBP1_HUMAN HMG-box transcription factor 1 362 cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus DNA binding skin(1) 1 TCACACCTATGGATTCTTCTG 0.328 11 20 --- --- --- --- PASS SLC26A4 5172 broad.mit.edu 37 7 107329538 107329538 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:107329538G>A uc003vep.2 + 9 1266 c.1042G>A c.(1042-1044)GAG>AAG p.E348K SLC26A4_uc011kmb.1_5'Flank|SLC26A4_uc011kmc.1_5'Flank NM_000441 NP_000432 O43511 S26A4_HUMAN pendrin 348 Helical; (Potential). regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2) 7 CTTGTTCTCGGAGATGCTGGC 0.443 Pendred_syndrome 29 49 --- --- --- --- PASS NRCAM 4897 broad.mit.edu 37 7 107834765 107834765 + Missense_Mutation SNP G C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:107834765G>C uc003vfb.2 - 16 2042 c.1571C>G c.(1570-1572)ACG>AGG p.T524R NRCAM_uc003vfc.2_Missense_Mutation_p.T518R|NRCAM_uc011kmk.1_Missense_Mutation_p.T519R|NRCAM_uc003vfd.2_Missense_Mutation_p.T500R|NRCAM_uc003vfe.2_Missense_Mutation_p.T500R NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A 524 Ig-like 5.|Extracellular (Potential). angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding ovary(3)|breast(2) 5 TGCAACACACGTATAAGTTCC 0.358 24 40 --- --- --- --- PASS LRRN3 54674 broad.mit.edu 37 7 110764288 110764288 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:110764288C>T uc003vft.3 + 4 2506 c.1460C>T c.(1459-1461)ACT>ATT p.T487I IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.T487I|LRRN3_uc003vfs.3_Missense_Mutation_p.T487I NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 487 Extracellular (Potential).|Ig-like C2-type. integral to membrane skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) AATGGCGTAACTCCCAAAGAA 0.403 9 56 --- --- --- --- PASS LRRN3 54674 broad.mit.edu 37 7 110764817 110764817 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:110764817G>A uc003vft.3 + 4 3035 c.1989G>A c.(1987-1989)AGG>AGA p.R663R IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.R663R|LRRN3_uc003vfs.3_Silent_p.R663R NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 663 Cytoplasmic (Potential). integral to membrane skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) GCTATGTGAGGAATTACTTAC 0.428 25 48 --- --- --- --- PASS DOCK4 9732 broad.mit.edu 37 7 111555875 111555875 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:111555875G>A uc003vfx.2 - 13 1420 c.1151C>T c.(1150-1152)TCC>TTC p.S384F DOCK4_uc003vfy.2_Missense_Mutation_p.S384F|DOCK4_uc003vga.1_5'UTR NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 384 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) CCTTGTTATGGATACTCCATG 0.373 7 13 --- --- --- --- PASS PPP1R3A 5506 broad.mit.edu 37 7 113518376 113518376 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:113518376G>A uc010ljy.1 - 4 2802 c.2771C>T c.(2770-2772)TCA>TTA p.S924L NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 924 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 AGTTGACACTGAAATTTCAGT 0.378 21 65 --- --- --- --- PASS PPP1R3A 5506 broad.mit.edu 37 7 113558613 113558613 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:113558613G>A uc010ljy.1 - 1 470 c.439C>T c.(439-441)CGA>TGA p.R147* NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 147 CBM21. glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 TTCAAAACTCGAATAATACCC 0.338 14 34 --- --- --- --- PASS WNT2 7472 broad.mit.edu 37 7 116918396 116918396 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:116918396C>A uc003viz.2 - 5 1196 c.896G>T c.(895-897)CGG>CTG p.R299L WNT2_uc003vja.2_Missense_Mutation_p.R203L NM_003391 NP_003382 P09544 WNT2_HUMAN wingless-type MMTV integration site family 299 R -> W. atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity p.N295_D302del(1) breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 7 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) GTCCATGCCCCGGGAAGTCAG 0.572 3 24 --- --- --- --- PASS CFTR 1080 broad.mit.edu 37 7 117170987 117170987 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:117170987G>A uc003vjd.2 + 4 440 c.308G>A c.(307-309)GGA>GAA p.G103E CFTR_uc011knq.1_5'UTR NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 103 Helical; Name=1; (Potential).|ABC transmembrane type-1 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding central_nervous_system(2)|skin(2)|ovary(1) 5 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) CTCTTACTGGGAAGAATCATA 0.398 Cystic_Fibrosis 15 26 --- --- --- --- PASS CTTNBP2 83992 broad.mit.edu 37 7 117431685 117431685 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:117431685G>T uc003vjf.2 - 4 1657 c.1565C>A c.(1564-1566)CCT>CAT p.P522H NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 522 Pro-rich. ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) ACCAACTGGAGGGTGGGTGCC 0.542 26 56 --- --- --- --- PASS AASS 10157 broad.mit.edu 37 7 121755143 121755143 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:121755143G>T uc003vka.2 - 8 1124 c.1028C>A c.(1027-1029)CCT>CAT p.P343H AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.P343H|AASS_uc011knw.1_Intron NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 343 Lysine-ketoglutarate reductase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) TGGTAATGCAGGGCAGCCTTC 0.488 5 45 --- --- --- --- PASS AASS 10157 broad.mit.edu 37 7 121758651 121758651 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:121758651C>T uc003vka.2 - 4 602 c.506G>A c.(505-507)AGG>AAG p.R169K AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.R169K|AASS_uc011knw.1_Intron NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 169 Lysine-ketoglutarate reductase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) AGCAAGGAGCCTTAAACCCAT 0.338 8 21 --- --- --- --- PASS CADPS2 93664 broad.mit.edu 37 7 122130223 122130223 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:122130223G>T uc010lkp.2 - 11 1927 c.1764C>A c.(1762-1764)GCC>GCA p.A588A CADPS2_uc003vkg.3_Silent_p.A288A|CADPS2_uc010lkq.2_Silent_p.A588A NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 588 PH. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 ATTGACCTGTGGCCCTATACA 0.393 31 65 --- --- --- --- PASS GRM8 2918 broad.mit.edu 37 7 126173069 126173069 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:126173069G>A uc003vlr.2 - 8 2678 c.2367C>T c.(2365-2367)ACC>ACT p.T789T GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.T789T|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 789 Helical; Name=6; (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) TGATGCAGGTGGTATACATGG 0.408 HNSCC(24;0.065) 12 32 --- --- --- --- PASS GRM8 2918 broad.mit.edu 37 7 126173393 126173393 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:126173393C>T uc003vlr.2 - 8 2354 c.2043G>A c.(2041-2043)AAG>AAA p.K681K GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.K681K|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 681 Cytoplasmic (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) TGACAGATTTCTTCCCCTGCT 0.512 HNSCC(24;0.065) 22 32 --- --- --- --- PASS ARF5 381 broad.mit.edu 37 7 127230149 127230149 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:127230149C>T uc003vmb.1 + 4 324 c.288C>T c.(286-288)GAC>GAT p.D96D ARF5_uc010llb.1_3'UTR|FSCN3_uc003vmc.1_5'Flank NM_001662 NP_001653 P84085 ARF5_HUMAN ADP-ribosylation factor 5 96 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 ACAGTAATGACCGGGAGCGGG 0.547 27 47 --- --- --- --- PASS FSCN3 29999 broad.mit.edu 37 7 127235514 127235514 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:127235514C>T uc003vmd.1 + 2 517 c.298C>T c.(298-300)CAC>TAC p.H100Y FSCN3_uc003vmc.1_Missense_Mutation_p.H55Y|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_5'UTR|FSCN3_uc010llc.1_Missense_Mutation_p.H100Y NM_020369 NP_065102 Q9NQT6 FSCN3_HUMAN fascin 3 100 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging ovary(1) 1 ACTGCGTTTCCACCGGAACAG 0.552 15 27 --- --- --- --- PASS FSCN3 29999 broad.mit.edu 37 7 127235654 127235654 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:127235654G>A uc003vmd.1 + 2 657 c.438G>A c.(436-438)GTG>GTA p.V146V FSCN3_uc003vmc.1_Silent_p.V101V|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_Silent_p.V12V|FSCN3_uc010llc.1_Silent_p.V146V NM_020369 NP_065102 Q9NQT6 FSCN3_HUMAN fascin 3 146 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging ovary(1) 1 ATGTCCACGTGATCCTCTACA 0.607 18 36 --- --- --- --- PASS FAM71F1 84691 broad.mit.edu 37 7 128369984 128369984 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:128369984C>T uc003vno.1 + 6 935 c.882C>T c.(880-882)ATC>ATT p.I294I FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Silent_p.I193I|FAM71F1_uc003vnp.1_Silent_p.I292I NM_032599 NP_115988 Q96KD3 F71F1_HUMAN testes development-related NYD-SP18 294 skin(1) 1 AAGACAGCATCCCTTGCACCT 0.512 22 44 --- --- --- --- PASS FLNC 2318 broad.mit.edu 37 7 128478326 128478326 + Silent SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:128478326C>A uc003vnz.3 + 7 1262 c.1053C>A c.(1051-1053)ACC>ACA p.T351T FLNC_uc003voa.3_Silent_p.T351T NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 351 Filamin 1. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 CCTAGGTGACCGTGCTCTTTG 0.627 5 89 --- --- --- --- PASS FLNC 2318 broad.mit.edu 37 7 128478391 128478391 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:128478391G>A uc003vnz.3 + 7 1327 c.1118G>A c.(1117-1119)GGA>GAA p.G373E FLNC_uc003voa.3_Missense_Mutation_p.G373E NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 373 Filamin 2. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 ATGGCCCTGGGAGATGCCAAC 0.572 16 56 --- --- --- --- PASS FLNC 2318 broad.mit.edu 37 7 128484142 128484142 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:128484142C>T uc003vnz.3 + 20 3223 c.3014C>T c.(3013-3015)TCG>TTG p.S1005L FLNC_uc003voa.3_Missense_Mutation_p.S1005L NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1005 Filamin 8. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 CGGATGACTTCGCCCTCTCGC 0.662 11 14 --- --- --- --- PASS FLNC 2318 broad.mit.edu 37 7 128490444 128490444 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:128490444G>A uc003vnz.3 + 32 5514 c.5305G>A c.(5305-5307)GAG>AAG p.E1769K FLNC_uc003voa.3_Missense_Mutation_p.E1736K NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1769 Filamin 16. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 GCAGGCCACAGAGGAGCCAGT 0.582 28 45 --- --- --- --- PASS FLNC 2318 broad.mit.edu 37 7 128497374 128497374 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:128497374C>T uc003vnz.3 + 46 7973 c.7764C>T c.(7762-7764)TTC>TTT p.F2588F FLNC_uc003voa.3_Silent_p.F2555F NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 2588 Interaction with INPPL1.|Filamin 23. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 GCAGCCCCTTCAAGGCCAAGG 0.637 8 23 --- --- --- --- PASS TSPAN33 340348 broad.mit.edu 37 7 128802733 128802733 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:128802733C>T uc003vop.1 + 4 577 c.348C>T c.(346-348)TTC>TTT p.F116F NM_178562 NP_848657 Q86UF1 TSN33_HUMAN tetraspanin 33 116 Helical; (Potential). integral to membrane ovary(1) 1 TCCTGGGCTTCGTCTTCTCAG 0.577 48 60 --- --- --- --- PASS FAM40B 57464 broad.mit.edu 37 7 129096369 129096369 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:129096369C>T uc011koy.1 + 9 964 c.924C>T c.(922-924)ATC>ATT p.I308I FAM40B_uc003vow.2_Silent_p.I308I|FAM40B_uc011koz.1_5'Flank NM_020704 NP_065755 Q9ULQ0 FA40B_HUMAN hypothetical protein LOC57464 isoform a 308 0 AAGACAGTATCCAGGTGGTGA 0.582 26 44 --- --- --- --- PASS TMEM209 84928 broad.mit.edu 37 7 129813502 129813502 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:129813502G>T uc003vpn.2 - 13 1650 c.1527C>A c.(1525-1527)ATC>ATA p.I509I TMEM209_uc010lmc.1_Silent_p.I467I NM_032842 NP_116231 Q96SK2 TM209_HUMAN transmembrane protein 209 509 integral to membrane ovary(2)|large_intestine(1) 3 Melanoma(18;0.0435) GACGCTGGTAGATGAGCTCAT 0.358 23 58 --- --- --- --- PASS CPA1 1357 broad.mit.edu 37 7 130021505 130021505 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:130021505C>T uc003vpx.2 + 3 254 c.182C>T c.(181-183)TCC>TTC p.S61F CPA1_uc011kpf.1_Intron|CPA1_uc003vpw.2_Missense_Mutation_p.S61F NM_001868 NP_001859 P15085 CBPA1_HUMAN carboxypeptidase A1 precursor 61 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) CACCCTGGCTCCCCCATCGAC 0.667 9 22 --- --- --- --- PASS PLXNA4 91584 broad.mit.edu 37 7 132193132 132193132 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:132193132G>A uc003vra.3 - 2 550 c.321C>T c.(319-321)CCC>CCT p.P107P PLXNA4_uc003vrc.2_Silent_p.P107P|PLXNA4_uc003vrb.2_Silent_p.P107P NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 107 Extracellular (Potential).|Sema. integral to membrane|intracellular|plasma membrane ovary(1) 1 TGGTGGTCAGGGGCTCATTGC 0.567 15 32 --- --- --- --- PASS AKR1B15 441282 broad.mit.edu 37 7 134260593 134260593 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:134260593C>T uc011kpr.1 + 8 956 c.657C>T c.(655-657)CTC>CTT p.L219L AKR1B15_uc011kps.1_Silent_p.L191L NM_001080538 NP_001074007 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 219 oxidoreductase activity ovary(1) 1 ACCCATACCTCACGCAGGAGA 0.532 10 51 --- --- --- --- PASS MIR490 574443 broad.mit.edu 37 7 136587929 136587929 + RNA SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:136587929T>C hsa-mir-490|MI0003125 + c.16T>C CHRM2_uc003vtf.1_Intron|CHRM2_uc003vtg.1_Intron|CHRM2_uc003vtj.1_Intron|CHRM2_uc003vtk.1_Intron|CHRM2_uc003vtl.1_Intron|CHRM2_uc003vtm.1_Intron|CHRM2_uc003vti.1_Intron|CHRM2_uc003vto.1_Intron|CHRM2_uc003vtn.1_Intron|uc003vtp.1_Intron 0 GCCTTGCTGGTTTGGAAAGTT 0.468 24 56 --- --- --- --- PASS DGKI 9162 broad.mit.edu 37 7 137148311 137148311 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:137148311C>T uc003vtt.2 - 28 2684 c.2683G>A c.(2683-2685)GAC>AAC p.D895N DGKI_uc003vtu.2_Intron NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 895 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 AGCCCACTGTCACTCAGCATG 0.502 19 33 --- --- --- --- PASS AKR1D1 6718 broad.mit.edu 37 7 137773434 137773434 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:137773434G>A uc003vtz.2 + 2 250 c.181G>A c.(181-183)GAA>AAA p.E61K AKR1D1_uc011kqb.1_Missense_Mutation_p.E61K|AKR1D1_uc011kqc.1_RNA|AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqe.1_Missense_Mutation_p.E61K|AKR1D1_uc011kqf.1_Missense_Mutation_p.E61K NM_005989 NP_005980 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 61 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding skin(1) 1 CTACCAAAATGAACACGAAGT 0.498 6 22 --- --- --- --- PASS KIAA1549 57670 broad.mit.edu 37 7 138552764 138552764 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:138552764C>T uc011kql.1 - 15 4935 c.4886G>A c.(4885-4887)AGG>AAG p.R1629K KIAA1549_uc011kqi.1_Missense_Mutation_p.R413K|KIAA1549_uc003vuk.3_Missense_Mutation_p.R1579K|KIAA1549_uc011kqj.1_Missense_Mutation_p.R1629K|KIAA1549_uc011kqk.1_Missense_Mutation_p.R413K NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 1629 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 GGGGGGCCTCCTGTAGGTGCC 0.622 O BRAF pilocytic astrocytoma 6 17 --- --- --- --- PASS KIAA1549 57670 broad.mit.edu 37 7 138554436 138554436 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:138554436G>A uc011kql.1 - 14 4672 c.4623C>T c.(4621-4623)CGC>CGT p.R1541R KIAA1549_uc011kqi.1_Silent_p.R325R|KIAA1549_uc003vuk.3_Silent_p.R1491R|KIAA1549_uc011kqj.1_Silent_p.R1541R|KIAA1549_uc011kqk.1_Silent_p.R325R NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 1541 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 AGTGCCCGCGGCGCTTGGCGC 0.617 O BRAF pilocytic astrocytoma 6 10 --- --- --- --- PASS UBN2 254048 broad.mit.edu 37 7 138946238 138946238 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:138946238C>T uc011kqr.1 + 6 1146 c.1146C>T c.(1144-1146)CCC>CCT p.P382P UBN2_uc003vuv.2_Silent_p.P105P NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN ubinuclein 2 382 ovary(1)|skin(1) 2 CAGACCTTCCCATTTTTGTTA 0.473 24 47 --- --- --- --- PASS TAS2R4 50832 broad.mit.edu 37 7 141478589 141478589 + Silent SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:141478589T>C uc003vwq.1 + 1 301 c.301T>C c.(301-303)TTG>CTG p.L101L NM_016944 NP_058640 Q9NYW5 TA2R4_HUMAN taste receptor T2R4 101 Helical; Name=3; (Potential). sensory perception of taste cilium membrane taste receptor activity 0 Melanoma(164;0.0171) BRCA - Breast invasive adenocarcinoma(188;0.196) GTTTGTGACCTTGCTCAATAT 0.443 27 46 --- --- --- --- PASS TRYX3 136541 broad.mit.edu 37 7 141952383 141952383 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:141952383T>C uc003vxb.2 - 4 805 c.485A>G c.(484-486)AAG>AGG p.K162R TRYX3_uc003vxc.3_Missense_Mutation_p.K162R NM_001001317 NP_001001317 Q8IYP2 PRS58_HUMAN trypsin X3 precursor 162 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Melanoma(164;0.0272) ACACTGAGGCTTGGAGATTAC 0.423 29 57 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 7 142500194 142500194 + RNA SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:142500194G>A uc003wbe.3 + 5 c.573G>A uc003wbf.3_RNA|uc003wbh.3_Missense_Mutation_p.R220K|uc003wbi.3_RNA|uc003wbm.3_RNA|uc003wbn.3_RNA|uc010los.2_RNA Homo sapiens mRNA for T cell receptor V beta14-D-J, partial cds. CAGGTCAAGAGAAAGGATTCC 0.517 8 7 --- --- --- --- PASS KEL 3792 broad.mit.edu 37 7 142638489 142638489 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:142638489C>T uc003wcb.2 - 19 2259 c.2049G>A c.(2047-2049)AGG>AGA p.R683R NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 683 Extracellular (Potential). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) GGCTGGGCTTCCTACACATCA 0.607 13 45 --- --- --- --- PASS OR9A2 135924 broad.mit.edu 37 7 142723949 142723949 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:142723949G>A uc003wcc.1 - 1 271 c.271C>T c.(271-273)CAG>TAG p.Q91* NM_001001658 NP_001001658 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, 91 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.059) GAAAGATACTGTCTGCATCCC 0.478 19 35 --- --- --- --- PASS TMEM139 135932 broad.mit.edu 37 7 142983529 142983529 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:142983529C>T uc010lov.2 + 4 397 c.258C>T c.(256-258)GCC>GCT p.A86A CASP2_uc003wco.2_5'Flank|CASP2_uc003wcp.2_5'Flank|CASP2_uc011kta.1_5'Flank|TMEM139_uc003wck.3_Silent_p.A86A|TMEM139_uc003wcl.2_Silent_p.A86A|TMEM139_uc003wcm.2_Silent_p.A86A|TMEM139_uc003wcn.2_RNA NM_153345 NP_699176 Q8IV31 TM139_HUMAN transmembrane protein 139 precursor 86 Cytoplasmic (Potential). integral to membrane 0 Melanoma(164;0.059) ACAATGAAGCCTTTGAAGTGC 0.512 29 64 --- --- --- --- PASS CLCN1 1180 broad.mit.edu 37 7 143043326 143043326 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:143043326G>A uc003wcr.1 + 18 2353 c.2266G>A c.(2266-2268)GAA>AAA p.E756K CLCN1_uc011ktc.1_Missense_Mutation_p.E368K NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 756 Cytoplasmic (By similarity). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) ACAGCAGCCGGAAGCACCAGA 0.597 6 11 --- --- --- --- PASS CLCN1 1180 broad.mit.edu 37 7 143048731 143048731 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:143048731C>T uc003wcr.1 + 23 2727 c.2640C>T c.(2638-2640)CTC>CTT p.L880L CLCN1_uc011ktc.1_Silent_p.L492L NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 880 Cytoplasmic (By similarity). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) GGGTGCAGCTCCGCCCTCCCC 0.478 13 17 --- --- --- --- PASS FAM131B 9715 broad.mit.edu 37 7 143054093 143054093 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:143054093C>T uc003wct.2 - 6 2255 c.549G>A c.(547-549)ATG>ATA p.M183I FAM131B_uc010loz.2_Missense_Mutation_p.M151I|FAM131B_uc003wcu.3_Missense_Mutation_p.M183I|FAM131B_uc010lpa.2_Missense_Mutation_p.M211I NM_014690 NP_055505 Q86XD5 F131B_HUMAN hypothetical protein LOC9715 isoform b 183 0 Melanoma(164;0.205) GCCATCCATCCATGGGTGCTT 0.498 12 21 --- --- --- --- PASS TAS2R60 338398 broad.mit.edu 37 7 143140607 143140607 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:143140607T>C uc011ktg.1 + 1 62 c.62T>C c.(61-63)GTT>GCT p.V21A uc003wda.2_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN taste receptor, type 2, member 60 21 Helical; Name=1; (Potential). sensory perception of bitter taste integral to membrane G-protein coupled receptor activity skin(6) 6 Melanoma(164;0.172) ATCATCTTGGTTACCATTTTA 0.502 32 94 --- --- --- --- PASS TAS2R60 338398 broad.mit.edu 37 7 143141125 143141125 + Missense_Mutation SNP C T T rs117057228 by1000genomes TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:143141125C>T uc011ktg.1 + 1 580 c.580C>T c.(580-582)CTC>TTC p.L194F uc003wda.2_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN taste receptor, type 2, member 60 194 Helical; Name=5; (Potential). sensory perception of bitter taste integral to membrane G-protein coupled receptor activity skin(6) 6 Melanoma(164;0.172) GAAATTCTATCTCTTCCCTCT 0.418 26 65 --- --- --- --- PASS FAM115A 9747 broad.mit.edu 37 7 143573429 143573429 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:143573429G>A uc003wdo.1 - 2 406 c.273C>T c.(271-273)CCC>CCT p.P91P FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Silent_p.P91P NM_014719 NP_055534 Q9Y4C2 F115A_HUMAN hypothetical protein LOC9747 91 0 Melanoma(164;0.0903) GTACACCAATGGGAGCCCCAG 0.587 15 38 --- --- --- --- PASS OR2F1 26211 broad.mit.edu 37 7 143657094 143657094 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:143657094G>A uc003wds.1 + 1 75 c.31G>A c.(31-33)GAA>AAA p.E11K NM_012369 NP_036501 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, 11 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Melanoma(164;0.0903) TTGGGTGAGTGAATTTATTCT 0.438 16 68 --- --- --- --- PASS OR2F1 26211 broad.mit.edu 37 7 143657642 143657642 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:143657642C>T uc003wds.1 + 1 623 c.579C>T c.(577-579)TCC>TCT p.S193S NM_012369 NP_036501 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, 193 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Melanoma(164;0.0903) TGGACACCTCCTCCAATGAGG 0.478 18 32 --- --- --- --- PASS OR2A25 392138 broad.mit.edu 37 7 143771942 143771942 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:143771942C>T uc011ktx.1 + 1 630 c.630C>T c.(628-630)TTC>TTT p.F210F NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, 210 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) TGGGAGCCTTCTTTTCCACTG 0.473 23 60 --- --- --- --- PASS OR2A2 442361 broad.mit.edu 37 7 143807315 143807315 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:143807315C>T uc011ktz.1 + 1 640 c.640C>T c.(640-642)CTG>TTG p.L214L NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, 214 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Melanoma(164;0.0783) TTCCTTGATTCTGGTCTCCTA 0.537 45 92 --- --- --- --- PASS OR2A14 135941 broad.mit.edu 37 7 143826661 143826661 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:143826661C>T uc011kua.1 + 1 456 c.456C>T c.(454-456)TTC>TTT p.F152F NM_001001659 NP_001001659 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, 152 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) TGTTCAGCTTCCTCCTGGCTC 0.532 48 108 --- --- --- --- PASS OR2A7 401427 broad.mit.edu 37 7 143956673 143956673 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:143956673G>A uc011kuc.1 - 1 49 c.49C>T c.(49-51)CCC>TCC p.P17S OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.2_3'UTR NM_001005328 NP_001005328 Q96R45 OR2A7_HUMAN olfactory receptor, family 2, subfamily A, 17 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.14) GGGCCAACGGGAAATCCCAGT 0.493 33 275 --- --- --- --- PASS NOBOX 135935 broad.mit.edu 37 7 144101747 144101747 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:144101747G>A uc011kue.1 - 2 112 c.112C>T c.(112-114)CCT>TCT p.P38S NM_001080413 NP_001073882 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 38 cell differentiation|oogenesis nucleus sequence-specific DNA binding ovary(1) 1 Melanoma(164;0.14) CCACACACAGGAAATTCAGGT 0.517 22 45 --- --- --- --- PASS TPK1 27010 broad.mit.edu 37 7 144245695 144245695 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:144245695C>T uc003weq.2 - 8 605 c.502G>A c.(502-504)GGA>AGA p.G168R TPK1_uc003weo.2_Missense_Mutation_p.G114R|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.G119R|TPK1_uc003wes.2_RNA NM_022445 NP_071890 Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 isoform a 168 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity ovary(2) 2 Thiamine(DB00152) CTGTGCTTTCCCTGAAGGAGA 0.493 16 30 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 146536856 146536856 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:146536856G>A uc003weu.1 + 3 778 c.262G>A c.(262-264)GAC>AAC p.D88N NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 88 F5/8 type C.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GCTTCAGGTTGACTTTGGCAA 0.483 HNSCC(39;0.1) 20 28 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 146741005 146741005 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:146741005C>T uc003weu.1 + 4 925 c.409C>T c.(409-411)CCC>TCC p.P137S NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 137 F5/8 type C.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CCAGGCATTTCCCGGAAACAT 0.408 HNSCC(39;0.1) 15 39 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 147092776 147092776 + Missense_Mutation SNP A C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:147092776A>C uc003weu.1 + 10 2090 c.1574A>C c.(1573-1575)CAA>CCA p.Q525P NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 525 Extracellular (Potential).|Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CAGCTCATTCAAGTGGACGAT 0.433 HNSCC(39;0.1) 31 89 --- --- --- --- PASS EZH2 2146 broad.mit.edu 37 7 148511204 148511204 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:148511204G>A uc003wfd.1 - 15 1849 c.1683C>T c.(1681-1683)CGC>CGT p.R561R EZH2_uc011kug.1_Silent_p.R510R|EZH2_uc003wfb.1_Silent_p.R566R|EZH2_uc003wfc.1_Silent_p.R522R|EZH2_uc011kuh.1_Silent_p.R552R NM_004456 NP_004447 Q15910 EZH2_HUMAN enhancer of zeste 2 isoform a 561 Cys-rich. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1) 183 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) GTGCTTTGCAGCGGCATCCCG 0.498 Mis DLBCL 29 80 --- --- --- --- PASS ZNF398 57541 broad.mit.edu 37 7 148876626 148876626 + Silent SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:148876626A>T uc003wfl.2 + 6 1937 c.1662A>T c.(1660-1662)CTA>CTT p.L554L ZNF398_uc011kul.1_Silent_p.L383L|ZNF398_uc011kum.1_Silent_p.L559L NM_170686 NP_733787 Q8TD17 ZN398_HUMAN zinc finger 398 isoform a 554 C2H2-type 8. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) AGCACCACCTAATGAAACACC 0.612 20 51 --- --- --- --- PASS ZNF767 79970 broad.mit.edu 37 7 149318402 149318402 + RNA SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:149318402C>T uc003wfy.3 - 2 c.498G>A ZNF767_uc003wfx.2_RNA|ZNF767_uc011kuq.1_RNA NR_027789 Homo sapiens cDNA FLJ12700 fis, clone NT2RP1000721. central_nervous_system(1) 1 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00434) TCCAGAAGTTCCTGTTGTGCA 0.692 25 62 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149489695 149489695 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:149489695C>T uc010lpk.2 + 39 5751 c.5751C>T c.(5749-5751)CCC>CCT p.P1917P NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 1917 TSP type-1 3. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCTGGTCACCCTGGGCCAAGT 0.672 7 20 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149500625 149500625 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:149500625C>T uc010lpk.2 + 55 8026 c.8026C>T c.(8026-8028)CCC>TCC p.P2676S NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 2676 cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTCTGAGTGCCCCTGCCTGGT 0.662 8 22 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149508026 149508026 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:149508026G>A uc010lpk.2 + 67 9420 c.9420G>A c.(9418-9420)CAG>CAA p.Q3140Q NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 3140 cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGCCCACCCAGGACTGCCCCT 0.622 5 14 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149512315 149512315 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:149512315C>T uc010lpk.2 + 76 10635 c.10635C>T c.(10633-10635)TCC>TCT p.S3545S NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 3545 cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCCCCCGCTCCTGCCAGGACC 0.682 15 9 --- --- --- --- PASS ZNF862 643641 broad.mit.edu 37 7 149558300 149558300 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:149558300C>T uc010lpn.2 + 7 2243 c.2051C>T c.(2050-2052)CCC>CTC p.P684L ZNF862_uc003wgm.2_RNA NM_001099220 NP_001092690 O60290 ZN862_HUMAN zinc finger protein 862 684 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity skin(1) 1 CTGGACATCCCCTTCCGGAAG 0.587 7 10 --- --- --- --- PASS GIMAP2 26157 broad.mit.edu 37 7 150390377 150390377 + Missense_Mutation SNP C T T rs149326002 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:150390377C>T uc003who.2 + 3 1091 c.1003C>T c.(1003-1005)CCT>TCT p.P335S GIMAP1_uc003whp.2_Intron NM_015660 NP_056475 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 335 integral to membrane GTP binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACGCAAGACTCCTAGGTTATA 0.323 5 13 --- --- --- --- PASS GIMAP1 170575 broad.mit.edu 37 7 150417417 150417417 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:150417417G>A uc003whq.2 + 3 412 c.325G>A c.(325-327)GCC>ACC p.A109T GIMAP1_uc003whp.2_Missense_Mutation_p.A117T NM_130759 NP_570115 Q8WWP7 GIMA1_HUMAN GTPase, IMAP family member 1 109 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane GTP binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTGCTCTCGGCCCCCGGACC 0.637 4 21 --- --- --- --- PASS SLC4A2 6522 broad.mit.edu 37 7 150771338 150771338 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:150771338C>T uc003wit.3 + 17 3004 c.2748C>T c.(2746-2748)TTC>TTT p.F916F SLC4A2_uc011kve.1_Silent_p.F907F|SLC4A2_uc003wiu.3_Silent_p.F902F|SLC4A2_uc003wiv.3_Silent_p.F110F NM_003040 NP_003031 P04920 B3A2_HUMAN solute carrier family 4, anion exchanger, member 916 Helical; (Potential).|Membrane (anion exchange). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCATCGCCTTCTTCCTGCGCA 0.647 15 16 --- --- --- --- PASS WDR86 349136 broad.mit.edu 37 7 151093117 151093117 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:151093117C>T uc003wkb.2 - 3 920 c.471G>A c.(469-471)GCG>GCA p.A157A WDR86_uc003wka.2_Silent_p.A115A|WDR86_uc011kvk.1_Silent_p.A157A|WDR86_uc003wkc.2_Silent_p.A29A NM_198285 NP_938026 Q86TI4 WDR86_HUMAN WD repeat domain 86 157 WD 4. 0 OV - Ovarian serous cystadenocarcinoma(82;0.00419) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGGCCTCCTCCGCGCAGGGAG 0.711 3 7 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151860306 151860306 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:151860306G>A uc003wla.2 - 43 10575 c.10356C>T c.(10354-10356)CCC>CCT p.P3452P MLL3_uc003wkz.2_Silent_p.P2513P|MLL3_uc003wky.2_Silent_p.P961P NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 3452 Gln-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) AACTGTAGAAGGGAATCTGGG 0.478 N medulloblastoma 30 104 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151860307 151860307 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:151860307G>A uc003wla.2 - 43 10574 c.10355C>T c.(10354-10356)CCC>CTC p.P3452L MLL3_uc003wkz.2_Missense_Mutation_p.P2513L|MLL3_uc003wky.2_Missense_Mutation_p.P961L NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 3452 Gln-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) ACTGTAGAAGGGAATCTGGGA 0.478 N medulloblastoma 30 103 --- --- --- --- PASS HTR5A 3361 broad.mit.edu 37 7 154876017 154876017 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:154876017G>A uc003wlu.1 + 2 958 c.894G>A c.(892-894)TGG>TGA p.W298* NM_024012 NP_076917 P47898 5HT5A_HUMAN 5-hydroxytryptamine receptor 5A 298 Helical; Name=6; (By similarity). integral to plasma membrane serotonin receptor activity ovary(2)|large_intestine(1) 3 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) TGCTCTGCTGGATCCCCTTCT 0.607 31 59 --- --- --- --- PASS RBM33 155435 broad.mit.edu 37 7 155534782 155534782 + Missense_Mutation SNP G C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:155534782G>C uc010lqk.1 + 13 2687 c.2319G>C c.(2317-2319)GAG>GAC p.E773D RBM33_uc011kvv.1_Missense_Mutation_p.E582D NM_053043 NP_444271 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 773 nucleotide binding|RNA binding ovary(1) 1 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) CTAAAGAAGAGGCAAAAACAG 0.493 8 23 --- --- --- --- PASS SHH 6469 broad.mit.edu 37 7 155604732 155604732 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:155604732C>T uc003wmk.1 - 1 236 c.85G>A c.(85-87)GGG>AGG p.G29R SHH_uc003wmh.1_5'Flank|SHH_uc003wmi.1_5'Flank|SHH_uc003wmj.1_5'Flank NM_000193 NP_000184 Q15465 SHH_HUMAN sonic hedgehog preproprotein 29 androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development cell surface|extracellular space|membrane raft|plasma membrane calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding central_nervous_system(3)|lung(1) 4 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00882) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCCCGAACCCCCTGCCCGGT 0.612 37 52 --- --- --- --- PASS PTPRN2 5799 broad.mit.edu 37 7 157931004 157931004 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:157931004G>A uc003wno.2 - 7 1235 c.1114C>T c.(1114-1116)CGT>TGT p.R372C PTPRN2_uc003wnp.2_Missense_Mutation_p.R355C|PTPRN2_uc003wnq.2_Missense_Mutation_p.R372C|PTPRN2_uc003wnr.2_Missense_Mutation_p.R334C|PTPRN2_uc011kwa.1_Missense_Mutation_p.R395C NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 372 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CTGTCTCCACGGAGGGTGGCC 0.677 8 15 --- --- --- --- PASS PTPRN2 5799 broad.mit.edu 37 7 157959909 157959909 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:157959909G>A uc003wno.2 - 6 745 c.624C>T c.(622-624)TCC>TCT p.S208S PTPRN2_uc003wnp.2_Silent_p.S191S|PTPRN2_uc003wnq.2_Silent_p.S208S|PTPRN2_uc003wnr.2_Silent_p.S170S|PTPRN2_uc011kwa.1_Silent_p.S231S NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 208 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) GCTGGGTCCGGGACCCGGGAG 0.632 8 27 --- --- --- --- PASS WDR60 55112 broad.mit.edu 37 7 158677292 158677292 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr7:158677292G>A uc003woe.3 + 6 1075 c.917G>A c.(916-918)AGA>AAA p.R306K WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_5'UTR NM_018051 NP_060521 Q8WVS4 WDR60_HUMAN WD repeat domain 60 306 ovary(2)|breast(1)|central_nervous_system(1) 4 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) AGCTCAAAAAGAGATGGGACC 0.423 11 28 --- --- --- --- PASS DLGAP2 9228 broad.mit.edu 37 8 1497235 1497235 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:1497235G>A uc003wpl.2 + 2 473 c.376G>A c.(376-378)GGC>AGC p.G126S DLGAP2_uc003wpm.2_Missense_Mutation_p.G126S NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 205 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GCACCGGGACGGCTTCCACAC 0.701 4 1 --- --- --- --- PASS DLGAP2 9228 broad.mit.edu 37 8 1497405 1497405 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:1497405G>A uc003wpl.2 + 2 643 c.546G>A c.(544-546)CGG>CGA p.R182R DLGAP2_uc003wpm.2_Silent_p.R182R NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 261 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CGGACGGCCGGGCGGACGACC 0.667 5 7 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 2808739 2808739 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:2808739C>T uc011kwk.1 - 66 10491 c.10101G>A c.(10099-10101)GGG>GGA p.G3367G CSMD1_uc011kwj.1_Silent_p.G2681G|CSMD1_uc010lrg.2_Silent_p.G1258G NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3367 Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTTGTCTTTTCCCTAAATATT 0.473 8 21 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 2876151 2876151 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:2876151G>A uc011kwk.1 - 52 8270 c.7880C>T c.(7879-7881)TCC>TTC p.S2627F CSMD1_uc011kwj.1_Missense_Mutation_p.S1956F|CSMD1_uc010lrg.2_Intron NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2627 Extracellular (Potential).|Sushi 17. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGGGGGAAAGGAAAGGCTTCC 0.398 49 131 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 2966239 2966239 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:2966239C>T uc011kwk.1 - 44 7033 c.6643G>A c.(6643-6645)GGA>AGA p.G2215R CSMD1_uc011kwj.1_Missense_Mutation_p.G1607R|CSMD1_uc010lrg.2_Missense_Mutation_p.G283R NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2215 Extracellular (Potential).|CUB 13. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTGAAAACTCCCAGCTGGGGT 0.493 17 18 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3047579 3047579 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:3047579C>T uc011kwk.1 - 34 5646 c.5256G>A c.(5254-5256)AGG>AGA p.R1752R CSMD1_uc011kwj.1_Silent_p.R1144R|CSMD1_uc003wqe.2_Silent_p.R908R|CSMD1_uc010lrg.2_5'Flank NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1752 Sushi 10.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AACCAATTCTCCTTCCGTATC 0.562 5 8 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3063068 3063068 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:3063068C>T uc011kwk.1 - 31 5335 c.4945G>A c.(4945-4947)GGT>AGT p.G1649S CSMD1_uc011kwj.1_Missense_Mutation_p.G1041S|CSMD1_uc003wqe.2_Missense_Mutation_p.G805S NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1649 Extracellular (Potential).|CUB 10. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CATATTTGACCAGCTGTGTAA 0.388 6 21 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3063085 3063085 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:3063085G>A uc011kwk.1 - 31 5318 c.4928C>T c.(4927-4929)CCC>CTC p.P1643L CSMD1_uc011kwj.1_Missense_Mutation_p.P1035L|CSMD1_uc003wqe.2_Missense_Mutation_p.P799L NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1643 Extracellular (Potential).|CUB 10. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTAATTATGGGGGTAGTTTGG 0.408 10 14 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3267122 3267122 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:3267122C>T uc011kwk.1 - 13 1960 c.1570G>A c.(1570-1572)GAA>AAA p.E524K CSMD1_uc011kwj.1_5'UTR NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 524 Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCTCCCTTTTCAATTTCTGAA 0.443 5 12 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 4495068 4495068 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:4495068C>T uc011kwk.1 - 2 488 c.98G>A c.(97-99)GGA>GAA p.G33E NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 33 Extracellular (Potential).|CUB 1. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GACTAAGCCTCCACAGTTCTG 0.443 16 43 --- --- --- --- PASS AGPAT5 55326 broad.mit.edu 37 8 6612607 6612607 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:6612607C>T uc003wqo.2 + 7 1093 c.781C>T c.(781-783)CAC>TAC p.H261Y AGPAT5_uc011kwm.1_Silent_p.F85F NM_018361 NP_060831 Q9NUQ2 PLCE_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 5 261 phospholipid biosynthetic process integral to membrane|mitochondrion 1-acylglycerol-3-phosphate O-acyltransferase activity 0 STAD - Stomach adenocarcinoma(24;0.0578) READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191) AATTCATATTCACATTGATCG 0.299 16 25 --- --- --- --- PASS DEFB4A 1673 broad.mit.edu 37 8 7752264 7752264 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:7752264C>T uc003wsd.2 + 1 66 c.30C>T c.(28-30)TTC>TTT p.F10F NM_004942 NP_004933 O15263 DFB4A_HUMAN defensin, beta 4 precursor 10 chemotaxis|defense response to bacterium|G-protein coupled receptor protein signaling pathway|immune response extracellular region 0 TCTTCTCGTTCCTCTTCATAT 0.517 17 83 --- --- --- --- PASS RP1L1 94137 broad.mit.edu 37 8 10465665 10465665 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:10465665C>T uc003wtc.2 - 4 6172 c.5943G>A c.(5941-5943)GAG>GAA p.E1981E NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1981 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CCACTTCAACCTCCAGGGCCT 0.587 59 127 --- --- --- --- PASS RP1L1 94137 broad.mit.edu 37 8 10466654 10466654 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:10466654C>T uc003wtc.2 - 4 5183 c.4954G>A c.(4954-4956)GAG>AAG p.E1652K NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1652 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TCCTCCCCCTCCGCCTCCTCG 0.662 14 17 --- --- --- --- PASS C8orf74 203076 broad.mit.edu 37 8 10557809 10557809 + Missense_Mutation SNP A C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:10557809A>C uc003wtd.1 + 4 742 c.713A>C c.(712-714)CAG>CCG p.Q238P C8orf74_uc003wte.1_RNA NM_001040032 NP_001035121 Q6P047 CH074_HUMAN hypothetical protein LOC203076 238 0 COAD - Colon adenocarcinoma(149;0.0811) GAGCTGCTGCAGCGCCAGATC 0.607 10 36 --- --- --- --- PASS FGF20 26281 broad.mit.edu 37 8 16850674 16850674 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:16850674G>A uc003wxc.1 - 3 676 c.543C>T c.(541-543)TCC>TCT p.S181S FGF20_uc010lsv.1_RNA|FGF20_uc010lsw.1_3'UTR NM_019851 NP_062825 Q9NP95 FGF20_HUMAN fibroblast growth factor 20 181 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway extracellular region|soluble fraction growth factor activity lung(1) 1 Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207) GATGCCTCTTGGACCTGGCGC 0.428 20 63 --- --- --- --- PASS PDGFRL 5157 broad.mit.edu 37 8 17486125 17486125 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:17486125C>T uc003wxr.2 + 4 696 c.635C>T c.(634-636)CCA>CTA p.P212L NM_006207 NP_006198 Q15198 PGFRL_HUMAN platelet-derived growth factor receptor-like 212 extracellular region platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity 0 Colorectal(111;0.0752) AGGGAATTCCCAGCCAAGGAG 0.537 12 34 --- --- --- --- PASS PCM1 5108 broad.mit.edu 37 8 17794743 17794743 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:17794743C>T uc003wyi.3 + 4 619 c.197C>T c.(196-198)CCG>CTG p.P66L PCM1_uc011kyh.1_Missense_Mutation_p.P66L|PCM1_uc003wyj.3_Missense_Mutation_p.P66L|PCM1_uc003wyg.2_Missense_Mutation_p.P66L|PCM1_uc003wyh.2_Missense_Mutation_p.P66L|PCM1_uc010lta.1_Missense_Mutation_p.P66L NM_006197 NP_006188 Q15154 PCM1_HUMAN pericentriolar material 1 66 centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2) 36 Colorectal(111;0.0789) GATATTTCTCCGGAGTCGTCA 0.428 T RET|JAK2 papillary thyroid|CML|MPD 16 20 --- --- --- --- PASS SH2D4A 63898 broad.mit.edu 37 8 19252082 19252082 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:19252082G>T uc003wzb.2 + 10 1630 c.1294G>T c.(1294-1296)GGG>TGG p.G432W SH2D4A_uc011kym.1_Missense_Mutation_p.G387W|SH2D4A_uc003wzc.2_Missense_Mutation_p.G432W NM_022071 NP_071354 Q9H788 SH24A_HUMAN SH2 domain containing 4A 432 SH2. cytoplasm|nucleus protein binding 0 Colorectal(111;0.0732) CACTTCCCTGGGGAAGGAGCT 0.537 5 80 --- --- --- --- PASS LPL 4023 broad.mit.edu 37 8 19810842 19810842 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:19810842G>A uc003wzk.3 + 4 821 c.451G>A c.(451-453)GAC>AAC p.D151N NM_000237 NP_000228 P06858 LIPL_HUMAN lipoprotein lipase precursor 151 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) CTACCCTCTGGACAATGTCCA 0.383 27 31 --- --- --- --- PASS SORBS3 10174 broad.mit.edu 37 8 22414361 22414361 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:22414361G>A uc003xbv.2 + 4 694 c.354G>A c.(352-354)TGG>TGA p.W118* SORBS3_uc011kzk.1_RNA NM_005775 NP_005766 O60504 VINEX_HUMAN sorbin and SH3 domain containing 3 isoform 1 118 SoHo. muscle contraction|positive regulation of stress fiber assembly cytoskeleton|cytosol|nucleus protein binding|structural constituent of cytoskeleton|vinculin binding 0 Prostate(55;0.0421)|Breast(100;0.102) BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) ACAAGCGCTGGGTCAAGTACG 0.657 13 29 --- --- --- --- PASS KIAA1967 57805 broad.mit.edu 37 8 22464806 22464806 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:22464806C>T uc003xch.2 + 6 592 c.455C>T c.(454-456)CCT>CTT p.P152L KIAA1967_uc003xci.2_Missense_Mutation_p.P152L|KIAA1967_uc003xcj.1_5'UTR NM_199205 NP_954675 Q8N163 K1967_HUMAN p30 DBC protein 152 apoptosis|positive regulation of apoptosis mitochondrial matrix|nucleus enzyme binding|enzyme inhibitor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) ATCTTCCAGCCTCACCGGATT 0.552 16 41 --- --- --- --- PASS KIAA1967 57805 broad.mit.edu 37 8 22472971 22472971 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:22472971G>T uc003xch.2 + 12 1376 c.1239G>T c.(1237-1239)CCG>CCT p.P413P KIAA1967_uc003xci.2_Silent_p.P413P|KIAA1967_uc003xcj.1_Silent_p.P82P NM_199205 NP_954675 Q8N163 K1967_HUMAN p30 DBC protein 413 apoptosis|positive regulation of apoptosis mitochondrial matrix|nucleus enzyme binding|enzyme inhibitor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) ACCTGCAGCCGGGACCCCCCC 0.582 4 75 --- --- --- --- PASS ADAM7 8756 broad.mit.edu 37 8 24344734 24344734 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:24344734G>A uc003xeb.2 + 11 1108 c.995G>A c.(994-996)AGA>AAA p.R332K ADAM7_uc003xec.2_Missense_Mutation_p.R104K NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN a disintegrin and metalloproteinase domain 7 332 Peptidase M12B.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding skin(3)|ovary(1)|kidney(1) 5 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) ATTGCAAACAGAATGGCACAT 0.353 8 44 --- --- --- --- PASS NEFL 4747 broad.mit.edu 37 8 24811165 24811165 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:24811165G>A uc003xee.2 - 3 1416 c.1314C>T c.(1312-1314)TCC>TCT p.S438S NM_006158 NP_006149 P07196 NFL_HUMAN neurofilament, light polypeptide 68kDa 438 Tail.|Tail, subdomain A. anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1) 2 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) AGGACGGGAAGGAGCGGGTGG 0.582 11 37 --- --- --- --- PASS DOCK5 80005 broad.mit.edu 37 8 25246721 25246721 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:25246721G>A uc003xeg.2 + 41 4383 c.4246G>A c.(4246-4248)GAA>AAA p.E1416K PPP2R2A_uc003xek.2_Missense_Mutation_p.E205K|DOCK5_uc003xei.2_Missense_Mutation_p.E986K|DOCK5_uc003xej.2_RNA NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1416 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) GCCTCCTGGGGAAGACATCAA 0.567 23 63 --- --- --- --- PASS PNMA2 10687 broad.mit.edu 37 8 26365669 26365669 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:26365669T>A uc003xez.2 - 3 1373 c.603A>T c.(601-603)GAA>GAT p.E201D NM_007257 NP_009188 Q9UL42 PNMA2_HUMAN paraneoplastic antigen MA2 201 apoptosis nucleolus protein binding 0 all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105) UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123) accttttcttttctgcctctg 0.000 22 31 --- --- --- --- PASS TRIM35 23087 broad.mit.edu 37 8 27151768 27151768 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:27151768G>A uc003xfl.1 - 3 673 c.591C>T c.(589-591)TTC>TTT p.F197F TRIM35_uc010lup.1_Silent_p.F165F|TRIM35_uc003xfm.1_RNA NM_171982 NP_741983 Q9UPQ4 TRI35_HUMAN tripartite motif-containing 35 isoform 2 197 apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle cytoplasm|nucleus zinc ion binding 0 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141) CCACTCTCAAGAACTCGCGAA 0.577 14 43 --- --- --- --- PASS SCARA3 51435 broad.mit.edu 37 8 27516678 27516678 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:27516678C>T uc003xga.1 + 5 1132 c.991C>T c.(991-993)CAT>TAT p.H331Y SCARA3_uc003xgb.1_Missense_Mutation_p.H331Y NM_016240 NP_057324 Q6AZY7 SCAR3_HUMAN scavenger receptor class A, member 3 isoform 1 331 Extracellular (Potential). response to oxidative stress|UV protection collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane scavenger receptor activity skin(2)|ovary(1)|breast(1) 4 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148) TCTTCAGTACCATACCCACTA 0.522 33 52 --- --- --- --- PASS ELP3 55140 broad.mit.edu 37 8 27989846 27989846 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:27989846C>T uc003xgo.3 + 9 979 c.831C>T c.(829-831)TCC>TCT p.S277S ELP3_uc003xgn.3_Silent_p.S262S|ELP3_uc011laq.1_Silent_p.S205S|ELP3_uc011lar.1_Silent_p.S185S|ELP3_uc011las.1_Silent_p.S158S|ELP3_uc011lat.1_Silent_p.S158S NM_018091 NP_060561 Q9H9T3 ELP3_HUMAN elongation protein 3 homolog 277 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding 0 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) CCAAAGATTCCGGTTTTAAAG 0.463 20 25 --- --- --- --- PASS TMEM66 51669 broad.mit.edu 37 8 29927250 29927250 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:29927250G>T uc003xhs.2 - 3 792 c.608C>A c.(607-609)CCG>CAG p.P203Q TMEM66_uc003xht.2_Missense_Mutation_p.P203Q|TMEM66_uc003xhu.2_Missense_Mutation_p.P167Q|TMEM66_uc003xhv.2_Missense_Mutation_p.P31Q NM_016127 NP_057211 Q96BY9 TMM66_HUMAN transmembrane protein 66 precursor 203 integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119) CTCAGAGTACGGTGGAGGAGA 0.483 5 98 --- --- --- --- PASS TEX15 56154 broad.mit.edu 37 8 30695230 30695230 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:30695230C>T uc003xil.2 - 3 7421 c.7421G>A c.(7420-7422)GGG>GAG p.G2474E NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 2474 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CAAAAGCGTCCCATGGTCTGG 0.393 51 76 --- --- --- --- PASS TEX15 56154 broad.mit.edu 37 8 30695231 30695231 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:30695231C>T uc003xil.2 - 3 7420 c.7420G>A c.(7420-7422)GGG>AGG p.G2474R NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 2474 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AAAAGCGTCCCATGGTCTGGT 0.398 53 77 --- --- --- --- PASS TEX15 56154 broad.mit.edu 37 8 30703109 30703109 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:30703109G>A uc003xil.2 - 1 3425 c.3425C>T c.(3424-3426)TCC>TTC p.S1142F NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1142 Ser-rich. ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TGTACTTTGGGATGTGGAGGA 0.403 19 36 --- --- --- --- PASS TEX15 56154 broad.mit.edu 37 8 30705259 30705259 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:30705259C>T uc003xil.2 - 1 1275 c.1275G>A c.(1273-1275)AGG>AGA p.R425R NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 425 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTTCATTTTTCCTATGGACAC 0.333 26 72 --- --- --- --- PASS NRG1 3084 broad.mit.edu 37 8 32621468 32621468 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:32621468T>A uc003xiv.2 + 12 1988 c.1471T>A c.(1471-1473)TTT>ATT p.F491I NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.F496I|NRG1_uc003xiw.2_Missense_Mutation_p.F488I|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.F233I|NRG1_uc010lvs.2_Missense_Mutation_p.F233I|NRG1_uc010lvp.2_Missense_Mutation_p.F445I|NRG1_uc010lvq.2_Missense_Mutation_p.F428I|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.F334I|NRG1_uc003xja.2_Missense_Mutation_p.F302I NM_013964 NP_039258 Q02297 NRG1_HUMAN neuregulin 1 isoform HRG-alpha 491 Cytoplasmic (Potential). activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity 0 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) GGAGAAGAAGTTTGACCATCA 0.567 32 48 --- --- --- --- PASS FUT10 84750 broad.mit.edu 37 8 33310821 33310821 + Silent SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:33310821A>G uc003xje.2 - 3 645 c.289T>C c.(289-291)TTA>CTA p.L97L FUT10_uc003xjc.2_Silent_p.L104L|FUT10_uc003xjd.2_Silent_p.L69L|FUT10_uc011lbi.1_Silent_p.L147L|FUT10_uc003xjf.2_Missense_Mutation_p.V22A|FUT10_uc003xjg.2_Silent_p.L69L|FUT10_uc003xjh.2_Silent_p.L97L|FUT10_uc003xji.1_Silent_p.L97L NM_032664 NP_116053 Q6P4F1 FUT10_HUMAN fucosyltransferase 10 97 Lumenal (Potential). embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) CATTGGCCTAACCTCCCAGTC 0.488 19 45 --- --- --- --- PASS UNC5D 137970 broad.mit.edu 37 8 35406913 35406913 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:35406913C>T uc003xjr.1 + 2 535 c.207C>T c.(205-207)AAC>AAT p.N69N UNC5D_uc003xjs.1_Silent_p.N64N NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 69 Extracellular (Potential).|Ig-like. apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TCAAGAGCAACCCTATTGCAC 0.512 16 43 --- --- --- --- PASS KCNU1 157855 broad.mit.edu 37 8 36673128 36673128 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:36673128C>T uc010lvw.2 + 9 1005 c.918C>T c.(916-918)AAC>AAT p.N306N KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 306 Helical; Name=Segment S6; (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TATTTGCGAACTATATACCTG 0.313 14 34 --- --- --- --- PASS GOT1L1 137362 broad.mit.edu 37 8 37795246 37795246 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:37795246C>T uc011lbj.1 - 3 419 c.319G>A c.(319-321)GGT>AGT p.G107S NM_152413 NP_689626 Q8NHS2 AATC2_HUMAN glutamic-oxaloacetic transaminase 1-like 1 107 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) CCACTGTCACCAACAGTGTGT 0.338 7 18 --- --- --- --- PASS LSM1 27257 broad.mit.edu 37 8 38029512 38029512 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:38029512A>G uc003xkw.2 - 2 274 c.86T>C c.(85-87)ATA>ACA p.I29T LSM1_uc003xkx.2_RNA NM_014462 NP_055277 O15116 LSM1_HUMAN Lsm1 protein 29 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|mRNA processing|RNA splicing, via transesterification reactions cytosol|nucleus|ribonucleoprotein complex protein binding|RNA binding 0 Colorectal(12;0.000442) TAAAAAGCCTATAAGTGTCCT 0.343 OREG0018720 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 37 --- --- --- --- PASS ADAM18 8749 broad.mit.edu 37 8 39496021 39496021 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:39496021C>T uc003xni.2 + 10 865 c.865C>T c.(865-867)CCT>TCT p.P289S ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.P265S NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN a disintegrin and metalloprotease domain 18 289 Peptidase M12B.|Extracellular (Potential). cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1) 6 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) AGCAACATTTCCTGGCACTGT 0.274 4 15 --- --- --- --- PASS ADAM18 8749 broad.mit.edu 37 8 39496022 39496022 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:39496022C>T uc003xni.2 + 10 866 c.866C>T c.(865-867)CCT>CTT p.P289L ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.P265L NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN a disintegrin and metalloprotease domain 18 289 Peptidase M12B.|Extracellular (Potential). cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1) 6 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) GCAACATTTCCTGGCACTGTA 0.279 4 16 --- --- --- --- PASS ADAM18 8749 broad.mit.edu 37 8 39496065 39496065 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:39496065G>A uc003xni.2 + 10 909 c.909G>A c.(907-909)ATG>ATA p.M303I ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.M279I NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN a disintegrin and metalloprotease domain 18 303 Peptidase M12B.|Extracellular (Potential). cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1) 6 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) GTATTGCTATGGTATGTAATT 0.269 9 16 --- --- --- --- PASS ADAM18 8749 broad.mit.edu 37 8 39521342 39521342 + Missense_Mutation SNP A C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:39521342A>C uc003xni.2 + 13 1259 c.1259A>C c.(1258-1260)TAT>TCT p.Y420S ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.Y396S NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN a disintegrin and metalloprotease domain 18 420 Disintegrin.|Extracellular (Potential). cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1) 6 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TGCTGTGATTATAACACATGT 0.308 16 27 --- --- --- --- PASS IDO1 3620 broad.mit.edu 37 8 39782800 39782800 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:39782800C>T uc003xnm.2 + 9 880 c.766C>T c.(766-768)CCA>TCA p.P256S IDO1_uc003xnn.2_RNA NM_002164 NP_002155 P14902 I23O1_HUMAN indoleamine 2,3-dioxygenase 1 256 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2) 2 L-Tryptophan(DB00150) CTGGGAAGACCCAAAGGAGTT 0.507 11 17 --- --- --- --- PASS IDO2 169355 broad.mit.edu 37 8 39845390 39845390 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:39845390G>A uc010lwy.1 + 7 731 c.489G>A c.(487-489)GGG>GGA p.G163G IDO2_uc003xno.1_RNA|IDO2_uc010lwz.1_Intron|IDO2_uc003xnp.1_5'UTR NM_194294 NP_919270 Q6ZQW0 I23O2_HUMAN indoleamine-pyrrole 2,3 dioxygenase-like 1 150 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity ovary(2) 2 CCTTCCCAAGGAACCTGGAGA 0.512 7 17 --- --- --- --- PASS IDO2 169355 broad.mit.edu 37 8 39845422 39845422 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:39845422G>A uc010lwy.1 + 7 763 c.521G>A c.(520-522)GGA>GAA p.G174E IDO2_uc003xno.1_RNA|IDO2_uc010lwz.1_Intron|IDO2_uc003xnp.1_5'UTR NM_194294 NP_919270 Q6ZQW0 I23O2_HUMAN indoleamine-pyrrole 2,3 dioxygenase-like 1 161 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity ovary(2) 2 TTTCCTGGGGGAGAGAGCCTG 0.478 14 26 --- --- --- --- PASS MYST3 7994 broad.mit.edu 37 8 41800488 41800488 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:41800488G>A uc010lxb.2 - 15 2803 c.2259C>T c.(2257-2259)ATC>ATT p.I753I MYST3_uc010lxc.2_Silent_p.I753I|MYST3_uc003xon.3_Silent_p.I753I|MYST3_uc010lxd.2_Silent_p.I753I NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 753 Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.|Catalytic. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) TGTGATCCTGGATAAGTTTTT 0.418 9 51 --- --- --- --- PASS AP3M2 10947 broad.mit.edu 37 8 42019934 42019934 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:42019934C>T uc003xop.2 + 5 872 c.581C>T c.(580-582)TCA>TTA p.S194L AP3M2_uc003xoo.2_Missense_Mutation_p.S194L|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_Missense_Mutation_p.S79L|AP3M2_uc003xor.1_Missense_Mutation_p.S194L NM_001134296 NP_001127768 P53677 AP3M2_HUMAN adaptor-related protein complex 3, mu 2 subunit 194 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|Golgi apparatus 0 all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) ATTGATAAATCAGGTAGGTGC 0.358 85 138 --- --- --- --- PASS POLB 5423 broad.mit.edu 37 8 42214872 42214872 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:42214872C>T uc003xoz.1 + 9 625 c.512C>T c.(511-513)TCT>TTT p.S171F POLB_uc003xpa.1_Missense_Mutation_p.S171F|POLB_uc011lcs.1_Missense_Mutation_p.S17F NM_002690 NP_002681 P06746 DPOLB_HUMAN DNA-directed DNA polymerase beta 171 DNA-dependent DNA replication cytoplasm|nucleoplasm|spindle microtubule DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding ovary(1)|breast(1) 2 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024) Cytarabine(DB00987) AAAGTGGATTCTGAATACATT 0.338 DNA_polymerases_(catalytic_subunits) 6 25 --- --- --- --- PASS KIAA0146 23514 broad.mit.edu 37 8 48353097 48353097 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:48353097C>T uc003xqd.2 + 8 1099 c.1090C>T c.(1090-1092)CCT>TCT p.P364S KIAA0146_uc011lcz.1_RNA|KIAA0146_uc011lda.1_Missense_Mutation_p.P53S|KIAA0146_uc011ldb.1_Missense_Mutation_p.P364S|KIAA0146_uc010lxs.2_5'UTR|KIAA0146_uc011ldc.1_Missense_Mutation_p.P294S|KIAA0146_uc011ldd.1_Missense_Mutation_p.P304S|KIAA0146_uc003xqe.2_5'UTR|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Missense_Mutation_p.P53S|KIAA0146_uc010lxt.2_Missense_Mutation_p.P53S NM_001080394 NP_001073863 Q14159 K0146_HUMAN hypothetical protein LOC23514 364 0 Lung NSC(58;0.175) CCGGATCTTCCCTCCCTGGTG 0.517 13 20 --- --- --- --- PASS C8orf22 492307 broad.mit.edu 37 8 49986642 49986642 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:49986642C>T uc003xqq.3 + 3 263 c.80C>T c.(79-81)TCT>TTT p.S27F NM_001007176 NP_001007177 Q8WWR9 PDPFL_HUMAN hypothetical protein LOC492307 27 0 all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502) TCAGTTAGTTCTTTAACTAGC 0.318 22 30 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52321427 52321427 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:52321427G>A uc003xqu.3 - 17 2858 c.2757C>T c.(2755-2757)CTC>CTT p.L919L PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 919 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CTGTCTTCAGGAGACCCCGAG 0.607 8 16 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52366184 52366184 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:52366184C>T uc003xqu.3 - 10 1245 c.1144G>A c.(1144-1146)GGA>AGA p.G382R NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 382 Ig-like C2-type 2. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) AAGTAAAGTCCACTGGACGTT 0.498 19 43 --- --- --- --- PASS PCMTD1 115294 broad.mit.edu 37 8 52733211 52733211 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:52733211G>A uc003xqx.3 - 6 1115 c.774C>T c.(772-774)TTC>TTT p.F258F PCMTD1_uc011ldm.1_Silent_p.F128F|PCMTD1_uc003xqw.3_Silent_p.F258F|PCMTD1_uc011ldn.1_Silent_p.F70F|PCMTD1_uc010lya.2_Silent_p.F182F NM_052937 NP_443169 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) 258 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 Lung NSC(129;0.0795)|all_lung(136;0.144) CATCATTTATGAAATTTCTAA 0.398 5 108 --- --- --- --- PASS ST18 9705 broad.mit.edu 37 8 53049180 53049180 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:53049180G>A uc003xqz.2 - 14 2426 c.2270C>T c.(2269-2271)TCC>TTC p.S757F ST18_uc011ldq.1_Missense_Mutation_p.S404F|ST18_uc011ldr.1_Missense_Mutation_p.S722F|ST18_uc011lds.1_Missense_Mutation_p.S662F|ST18_uc003xra.2_Missense_Mutation_p.S757F NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 757 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) AGCCATGAGGGATTTTAGAGT 0.478 8 11 --- --- --- --- PASS ST18 9705 broad.mit.edu 37 8 53071573 53071573 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:53071573C>T uc003xqz.2 - 10 1847 c.1691G>A c.(1690-1692)GGT>GAT p.G564D ST18_uc011ldq.1_Missense_Mutation_p.G211D|ST18_uc011ldr.1_Missense_Mutation_p.G529D|ST18_uc011lds.1_Missense_Mutation_p.G469D|ST18_uc003xra.2_Missense_Mutation_p.G564D|ST18_uc003xrb.2_Missense_Mutation_p.G564D NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 564 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) ACTACATTGACCGTAGCTATA 0.542 26 38 --- --- --- --- PASS ST18 9705 broad.mit.edu 37 8 53073958 53073958 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:53073958C>T uc003xqz.2 - 9 1727 c.1571G>A c.(1570-1572)CGA>CAA p.R524Q ST18_uc011ldq.1_Missense_Mutation_p.R171Q|ST18_uc011ldr.1_Missense_Mutation_p.R489Q|ST18_uc011lds.1_Missense_Mutation_p.R429Q|ST18_uc003xra.2_Missense_Mutation_p.R524Q|ST18_uc003xrb.2_Missense_Mutation_p.R524Q NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 524 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TGGTGTTTTTCGTCCTTGCAC 0.438 29 42 --- --- --- --- PASS ST18 9705 broad.mit.edu 37 8 53084599 53084599 + Silent SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:53084599T>C uc003xqz.2 - 5 978 c.822A>G c.(820-822)TCA>TCG p.S274S ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.S239S|ST18_uc011lds.1_Silent_p.S179S|ST18_uc003xra.2_Silent_p.S274S|ST18_uc003xrb.2_Silent_p.S274S NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 274 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CGTCAGGGAATGAGGGCTGGG 0.507 26 35 --- --- --- --- PASS RGS20 8601 broad.mit.edu 37 8 54791982 54791982 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:54791982C>T uc003xrp.2 + 2 422 c.330C>T c.(328-330)GCC>GCT p.A110A RGS20_uc003xrq.2_Intron|RGS20_uc010lye.2_Intron|RGS20_uc010lyf.2_Intron|RGS20_uc003xrr.2_5'Flank|RGS20_uc003xrs.2_5'Flank|RGS20_uc003xrt.2_5'Flank NM_170587 NP_733466 O76081 RGS20_HUMAN regulator of G-protein signaling 20 isoform a 110 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|nucleus|plasma membrane GTPase activator activity|protein binding|signal transducer activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009) TGCTTCCCGCCCTGCCGGCCG 0.761 4 12 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55540154 55540154 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:55540154G>A uc003xsd.1 + 4 3860 c.3712G>A c.(3712-3714)GGT>AGT p.G1238S RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1238 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTTGGATGGAGGTTGCTCTGC 0.438 36 53 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55540733 55540733 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:55540733G>A uc003xsd.1 + 4 4439 c.4291G>A c.(4291-4293)GAA>AAA p.E1431K RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1431 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GTTTCAGGATGAAAATGCATA 0.373 19 48 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55541635 55541635 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:55541635C>T uc003xsd.1 + 4 5341 c.5193C>T c.(5191-5193)ATC>ATT p.I1731I RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1731 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ATAGCAGAATCCTCACAGACA 0.398 34 44 --- --- --- --- PASS XKR4 114786 broad.mit.edu 37 8 56436231 56436231 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:56436231G>A uc003xsf.2 + 3 1430 c.1398G>A c.(1396-1398)TTG>TTA p.L466L NM_052898 NP_443130 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related 466 Helical; (Potential). integral to membrane pancreas(2) 2 Epithelial(17;0.000117)|all cancers(17;0.000836) TGATCCTTTTGGAAAATACAG 0.473 17 44 --- --- --- --- PASS PLAG1 5324 broad.mit.edu 37 8 57079013 57079013 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:57079013G>A uc003xsq.3 - 3 1743 c.1292C>T c.(1291-1293)CCC>CTC p.P431L PLAG1_uc003xsr.3_Missense_Mutation_p.P431L|PLAG1_uc010lyi.2_Missense_Mutation_p.P431L|PLAG1_uc010lyj.2_Missense_Mutation_p.P349L NM_001114635 NP_001108107 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 isoform b 431 Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3) salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1) 129 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) AGGATTATAGGGAGGACCATT 0.453 T TCEA1|LIFR|CTNNB1|CHCHD7 salivary adenoma 41 64 --- --- --- --- PASS ASPH 444 broad.mit.edu 37 8 62430621 62430621 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:62430621G>A uc003xuj.2 - 23 2231 c.1962C>T c.(1960-1962)TTC>TTT p.F654F ASPH_uc011leg.1_Silent_p.F625F NM_004318 NP_004309 Q12797 ASPH_HUMAN aspartate beta-hydroxylase isoform a 654 Lumenal (Potential). muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle ovary(3) 3 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) TTGTCTCGGGGAACTTTTCTA 0.398 49 78 --- --- --- --- PASS ASPH 444 broad.mit.edu 37 8 62475376 62475376 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:62475376G>A uc003xuj.2 - 18 1633 c.1364C>T c.(1363-1365)TCC>TTC p.S455F ASPH_uc011leg.1_Missense_Mutation_p.S426F|ASPH_uc003xuo.2_Missense_Mutation_p.S436F NM_004318 NP_004309 Q12797 ASPH_HUMAN aspartate beta-hydroxylase isoform a 455 TPR 2.|Lumenal (Potential). muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle ovary(3) 3 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) ATTTTTTAAGGAAGTATCATT 0.358 25 63 --- --- --- --- PASS TRIM55 84675 broad.mit.edu 37 8 67047381 67047381 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:67047381G>A uc003xvv.2 + 3 724 c.498G>A c.(496-498)CAG>CAA p.Q166Q TRIM55_uc003xvu.2_Silent_p.Q166Q|TRIM55_uc003xvw.2_Silent_p.Q166Q|TRIM55_uc003xvx.2_Silent_p.Q166Q NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN tripartite motif-containing 55 isoform 1 166 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) ATGTGTTCCAGAGACAGAAGG 0.592 21 52 --- --- --- --- PASS TRIM55 84675 broad.mit.edu 37 8 67064761 67064761 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:67064761C>T uc003xvv.2 + 8 1361 c.1135C>T c.(1135-1137)CTC>TTC p.L379F TRIM55_uc003xvu.2_Missense_Mutation_p.L379F|TRIM55_uc003xvw.2_Missense_Mutation_p.L379F|TRIM55_uc003xvx.2_Intron NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN tripartite motif-containing 55 isoform 1 379 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) AGCTTCAGAGCTCTCTCAGGT 0.433 10 32 --- --- --- --- PASS XKR9 389668 broad.mit.edu 37 8 71646348 71646348 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:71646348C>T uc003xyq.2 + 5 1345 c.811C>T c.(811-813)CTT>TTT p.L271F XKR9_uc010lze.2_Missense_Mutation_p.L271F|XKR9_uc010lzd.2_Missense_Mutation_p.L139F NM_001011720 NP_001011720 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related 271 Helical; (Potential). integral to membrane ovary(1)|skin(1) 2 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) TGGATTCATTCTTATCTTTAC 0.318 9 27 --- --- --- --- PASS TRPA1 8989 broad.mit.edu 37 8 72935239 72935239 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:72935239G>A uc003xza.2 - 27 3437 c.3262C>T c.(3262-3264)CAA>TAA p.Q1088* uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 1088 Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) AACCTGTCTTGAAAAGAACAA 0.403 18 36 --- --- --- --- PASS KCNB2 9312 broad.mit.edu 37 8 73480246 73480246 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:73480246C>T uc003xzb.2 + 2 865 c.277C>T c.(277-279)CCA>TCA p.P93S NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 93 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) TGATCGGCATCCAGGAGCCTT 0.478 21 40 --- --- --- --- PASS KCNB2 9312 broad.mit.edu 37 8 73849725 73849725 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:73849725C>T uc003xzb.2 + 3 2723 c.2135C>T c.(2134-2136)TCC>TTC p.S712F NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 712 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) CCACTAAAGTCCAGATCCCTC 0.537 44 54 --- --- --- --- PASS JPH1 56704 broad.mit.edu 37 8 75227317 75227317 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:75227317C>T uc003yae.2 - 2 958 c.918G>A c.(916-918)GGG>GGA p.G306G JPH1_uc003yaf.2_Silent_p.G306G|JPH1_uc003yag.1_Silent_p.G170G NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN junctophilin 1 306 Cytoplasmic (Potential).|MORN 7. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane ovary(1) 1 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) TTGCCCACTCCCCTTCATACT 0.517 32 57 --- --- --- --- PASS PI15 51050 broad.mit.edu 37 8 75737547 75737547 + Silent SNP C A A rs146928869 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:75737547C>A uc003yal.2 + 2 242 c.63C>A c.(61-63)ACC>ACA p.T21T uc003yak.1_Intron|PI15_uc003yam.2_Silent_p.T21T NM_015886 NP_056970 O43692 PI15_HUMAN protease inhibitor 15 preproprotein 21 extracellular region peptidase inhibitor activity central_nervous_system(2)|ovary(1) 3 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) AAGCAAGTACCGTCGTCCTAC 0.478 6 200 --- --- --- --- PASS CRISPLD1 83690 broad.mit.edu 37 8 75925135 75925135 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:75925135C>T uc003yan.2 + 4 763 c.388C>T c.(388-390)CCG>TCG p.P130S CRISPLD1_uc011lfk.1_5'UTR|CRISPLD1_uc011lfl.1_5'UTR NM_031461 NP_113649 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain 130 extracellular region ovary(1)|central_nervous_system(1) 2 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) ATATAGGCCCCCGACGTTTCA 0.378 9 26 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77618373 77618373 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:77618373C>T uc003yav.2 + 2 2437 c.2050C>T c.(2050-2052)CCC>TCC p.P684S ZFHX4_uc003yat.1_Missense_Mutation_p.P684S|ZFHX4_uc003yau.1_Missense_Mutation_p.P684S|ZFHX4_uc003yaw.1_Missense_Mutation_p.P684S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 684 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) ACAGCCTCACCCCAGGCTTGC 0.512 HNSCC(33;0.089) 21 27 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77618472 77618472 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:77618472C>T uc003yav.2 + 2 2536 c.2149C>T c.(2149-2151)CAT>TAT p.H717Y ZFHX4_uc003yat.1_Missense_Mutation_p.H717Y|ZFHX4_uc003yau.1_Missense_Mutation_p.H717Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.H717Y NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 717 C2H2-type 3. 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) CCTCAGTATTCATATGCAGTC 0.522 HNSCC(33;0.089) 10 40 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77767134 77767134 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:77767134G>A uc003yav.2 + 10 8229 c.7842G>A c.(7840-7842)CGG>CGA p.R2614R ZFHX4_uc003yau.1_Silent_p.R2659R|ZFHX4_uc003yaw.1_Silent_p.R2614R NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2614 Homeobox 3. 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) CACGAGCGCGGGAGAGGAAAG 0.527 HNSCC(33;0.089) 25 45 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77767159 77767159 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:77767159G>A uc003yav.2 + 10 8254 c.7867G>A c.(7867-7869)GTG>ATG p.V2623M ZFHX4_uc003yau.1_Missense_Mutation_p.V2668M|ZFHX4_uc003yaw.1_Missense_Mutation_p.V2623M NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2623 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) GTTCCGGGCGGTGGGTCCAGC 0.547 HNSCC(33;0.089) 26 40 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77775467 77775467 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:77775467C>T uc003yav.2 + 11 9769 c.9382C>T c.(9382-9384)CCT>TCT p.P3128S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3124 Pro-rich. 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) tcctcctcctccttcatcctc 0.363 HNSCC(33;0.089) 9 21 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77775587 77775587 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:77775587G>A uc003yav.2 + 11 9889 c.9502G>A c.(9502-9504)GAA>AAA p.E3168K NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3164 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) CACCAAACCCGAAAAACACCC 0.413 HNSCC(33;0.089) 46 76 --- --- --- --- PASS ZBTB10 65986 broad.mit.edu 37 8 81431659 81431659 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:81431659G>A uc003ybx.3 + 6 3110 c.2512G>A c.(2512-2514)GAA>AAA p.E838K ZBTB10_uc003ybv.3_Missense_Mutation_p.E546K|ZBTB10_uc003ybw.3_Missense_Mutation_p.E814K|ZBTB10_uc010lzt.2_Missense_Mutation_p.E836K NM_001105539 NP_001099009 Q96DT7 ZBT10_HUMAN zinc finger and BTB domain containing 10 isoform 838 transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(1) 1 all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06) BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296) CGAGGAGAATGAAGTAGGAGA 0.448 11 18 --- --- --- --- PASS CA13 377677 broad.mit.edu 37 8 86163132 86163132 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:86163132C>T uc003ydg.2 + 2 543 c.201C>T c.(199-201)TTC>TTT p.F67F CA13_uc003ydf.1_RNA NM_198584 NP_940986 Q8N1Q1 CAH13_HUMAN carbonic anhydrase XIII 67 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding 0 GCCATTCCTTCAATGTTGACT 0.398 58 105 --- --- --- --- PASS SLC7A13 157724 broad.mit.edu 37 8 87230033 87230033 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:87230033C>T uc003ydq.1 - 3 943 c.845G>A c.(844-846)CGA>CAA p.R282Q SLC7A13_uc003ydr.1_Missense_Mutation_p.R273Q NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN solute carrier family 7, (cationic amino acid 282 Extracellular (Potential). integral to membrane amino acid transmembrane transporter activity central_nervous_system(1) 1 GGGAAAAGCTCGATCAGCCCA 0.308 18 62 --- --- --- --- PASS CNGB3 54714 broad.mit.edu 37 8 87591016 87591016 + Silent SNP C T T rs142347723 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:87591016C>T uc003ydx.2 - 17 2050 c.2004G>A c.(2002-2004)CCG>CCA p.P668P CNGB3_uc010maj.2_Silent_p.P525P NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 668 Cytoplasmic (Potential).|cGMP (By similarity). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 TCTCTTCTTTCGGTGGGAAGA 0.473 23 54 --- --- --- --- PASS CNBD1 168975 broad.mit.edu 37 8 88249162 88249162 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:88249162G>A uc003ydy.2 + 6 641 c.593G>A c.(592-594)GGA>GAA p.G198E NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 198 ovary(3) 3 GCAAATGATGGATTTTATGTA 0.348 48 64 --- --- --- --- PASS DCAF4L2 138009 broad.mit.edu 37 8 88885348 88885348 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:88885348G>A uc003ydz.2 - 1 949 c.852C>T c.(850-852)TTC>TTT p.F284F NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 284 WD 1. ovary(1) 1 ATGACACCAGGAATTGGCCAT 0.498 25 35 --- --- --- --- PASS RUNX1T1 862 broad.mit.edu 37 8 92972741 92972741 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:92972741C>A uc003yfd.2 - 11 1628 c.1544G>T c.(1543-1545)TGC>TTC p.C515F RUNX1T1_uc003yfc.1_Missense_Mutation_p.C488F|RUNX1T1_uc003yfe.1_Missense_Mutation_p.C478F|RUNX1T1_uc010mao.2_Missense_Mutation_p.C488F|RUNX1T1_uc011lgi.1_Missense_Mutation_p.C526F|uc010mam.2_5'Flank|RUNX1T1_uc010man.1_Missense_Mutation_p.C140F|RUNX1T1_uc003yfb.1_Missense_Mutation_p.C478F NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 515 MYND-type. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) ACAATTCCAGCAACTCTAAAG 0.443 11 40 --- --- --- --- PASS RUNX1T1 862 broad.mit.edu 37 8 92998451 92998451 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:92998451G>A uc003yfd.2 - 8 1264 c.1180C>T c.(1180-1182)CGG>TGG p.R394W RUNX1T1_uc003yfc.1_Missense_Mutation_p.R367W|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R357W|RUNX1T1_uc010mao.2_Missense_Mutation_p.R367W|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R405W|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R357W NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 394 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) CTGTACCGCCGGATCCAGTAA 0.517 35 38 --- --- --- --- PASS RUNX1T1 862 broad.mit.edu 37 8 93017356 93017356 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:93017356C>T uc003yfd.2 - 5 812 c.728G>A c.(727-729)CGA>CAA p.R243Q RUNX1T1_uc003yfc.1_Missense_Mutation_p.R216Q|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R206Q|RUNX1T1_uc010mao.2_Missense_Mutation_p.R216Q|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R254Q|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R206Q|RUNX1T1_uc003yff.1_Missense_Mutation_p.R206Q NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 243 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) GTCTGGAGTTCGCCTCTTCCC 0.522 36 50 --- --- --- --- PASS KIAA1429 25962 broad.mit.edu 37 8 95539319 95539319 + Silent SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:95539319A>G uc003ygo.1 - 8 1166 c.1153T>C c.(1153-1155)TTA>CTA p.L385L KIAA1429_uc003ygp.2_Silent_p.L385L|KIAA1429_uc010maz.1_RNA NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 385 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) AGTTCTGTTAACTTCACTGAG 0.343 54 82 --- --- --- --- PASS MATN2 4147 broad.mit.edu 37 8 98943539 98943539 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:98943539C>T uc003yic.2 + 3 732 c.501C>T c.(499-501)ATC>ATT p.I167I MATN2_uc003yib.1_Silent_p.I167I|MATN2_uc010mbh.1_Silent_p.I167I|MATN2_uc003yid.2_Silent_p.I167I|MATN2_uc003yie.1_Silent_p.I167I|MATN2_uc010mbi.1_Silent_p.I41I NM_002380 NP_002371 O00339 MATN2_HUMAN matrilin 2 isoform a precursor 167 VWFA 1. proteinaceous extracellular matrix calcium ion binding ovary(2) 2 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) TCATAATGATCGTGACAGATG 0.597 8 20 --- --- --- --- PASS C8orf47 203111 broad.mit.edu 37 8 99101751 99101751 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:99101751C>T uc003yih.1 + 2 654 c.506C>T c.(505-507)TCT>TTT p.S169F NM_173549 NP_775820 Q6P6B1 CH047_HUMAN hypothetical protein LOC203111 169 0 Breast(36;2.31e-06) OV - Ovarian serous cystadenocarcinoma(57;0.214) GAGAAGGACTCTCTCAGAGCA 0.517 26 24 --- --- --- --- PASS VPS13B 157680 broad.mit.edu 37 8 100830947 100830947 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:100830947T>C uc003yiv.2 + 47 8638 c.8527T>C c.(8527-8529)TTC>CTC p.F2843L VPS13B_uc003yiw.2_Missense_Mutation_p.F2818L NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 2843 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) ATAGATTGTGTTCAGCCCTCT 0.353 37 102 --- --- --- --- PASS GRHL2 79977 broad.mit.edu 37 8 102555584 102555584 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:102555584G>A uc010mbu.2 + 2 466 c.136G>A c.(136-138)GCA>ACA p.A46T GRHL2_uc010mbt.1_Missense_Mutation_p.A46T|GRHL2_uc011lhi.1_Missense_Mutation_p.A46T NM_024915 NP_079191 Q6ISB3 GRHL2_HUMAN transcription factor CP2-like 3 46 Transcription activation. cytoplasm|nucleus DNA binding ovary(2)|skin(1) 3 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) TCCCCTGACAGCAGCCACCAA 0.552 26 69 --- --- --- --- PASS NCALD 83988 broad.mit.edu 37 8 102701575 102701575 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:102701575G>A uc003yke.2 - 4 913 c.544C>T c.(544-546)CTC>TTC p.L182F NCALD_uc003ykf.2_Missense_Mutation_p.L182F|NCALD_uc003ykg.2_Missense_Mutation_p.L182F|NCALD_uc003ykh.2_Missense_Mutation_p.L182F|NCALD_uc003yki.2_Missense_Mutation_p.L182F|NCALD_uc003ykj.2_Missense_Mutation_p.L182F|NCALD_uc003ykk.2_Missense_Mutation_p.L182F|NCALD_uc003ykl.2_Missense_Mutation_p.L182F NM_032041 NP_114430 P61601 NCALD_HUMAN neurocalcin delta 182 synaptic transmission|vesicle-mediated transport clathrin coat of trans-Golgi network vesicle|cytosol actin binding|calcium ion binding|clathrin binding|tubulin binding 0 all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05) all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699) CACTGCAGGAGGCGCACAATG 0.557 5 7 --- --- --- --- PASS RIMS2 9699 broad.mit.edu 37 8 104898040 104898040 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:104898040G>A uc003yls.2 + 2 788 c.547G>A c.(547-549)GAA>AAA p.E183K RIMS2_uc003ylp.2_Missense_Mutation_p.E405K|RIMS2_uc003ylw.2_Missense_Mutation_p.E213K|RIMS2_uc003ylq.2_Missense_Mutation_p.E213K|RIMS2_uc003ylr.2_Missense_Mutation_p.E213K NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 436 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AGCTGCCATGGAAAATCAGCG 0.453 HNSCC(12;0.0054) 17 37 --- --- --- --- PASS RIMS2 9699 broad.mit.edu 37 8 105261767 105261767 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:105261767C>T uc003yls.2 + 26 3937 c.3696C>T c.(3694-3696)ATC>ATT p.I1232I RIMS2_uc003ylp.2_Silent_p.I1214I|RIMS2_uc003ylw.2_Silent_p.I1221I|RIMS2_uc003ylq.2_Silent_p.I1028I|RIMS2_uc003ylr.2_Silent_p.I1053I NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1276 C2 2. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AGGTAGAAATCATCCGGGCCC 0.398 HNSCC(12;0.0054) 19 21 --- --- --- --- PASS TM7SF4 81501 broad.mit.edu 37 8 105360851 105360851 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:105360851C>T uc003ylx.1 + 2 120 c.71C>T c.(70-72)CCC>CTC p.P24L NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 24 osteoclast differentiation cell surface|integral to membrane|plasma membrane p.P24L(1) pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CCAAGAAGCCCCGGATGGATG 0.493 21 51 --- --- --- --- PASS TM7SF4 81501 broad.mit.edu 37 8 105360852 105360852 + Silent SNP C T T rs146486218 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:105360852C>T uc003ylx.1 + 2 121 c.72C>T c.(70-72)CCC>CCT p.P24P NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 24 osteoclast differentiation cell surface|integral to membrane|plasma membrane p.P24L(1) pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CAAGAAGCCCCGGATGGATGG 0.493 21 50 --- --- --- --- PASS ABRA 137735 broad.mit.edu 37 8 107773477 107773477 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:107773477C>T uc003ymm.3 - 2 988 c.934G>A c.(934-936)GAC>AAC p.D312N NM_139166 NP_631905 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 312 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) AAGCACATGTCCATCATTTCC 0.488 8 31 --- --- --- --- PASS ANGPT1 284 broad.mit.edu 37 8 108348443 108348443 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:108348443G>A uc003ymn.2 - 3 978 c.510C>T c.(508-510)ACC>ACT p.T170T ANGPT1_uc011lhv.1_5'UTR|ANGPT1_uc003ymo.2_Silent_p.T170T NM_001146 NP_001137 Q15389 ANGP1_HUMAN angiopoietin 1 precursor 170 Potential. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding ovary(3)|skin(3)|upper_aerodigestive_tract(1) 7 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) CTAGCTTGTAGGTGGATAATG 0.343 13 15 --- --- --- --- PASS RSPO2 340419 broad.mit.edu 37 8 109001380 109001380 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:109001380G>A uc003yms.2 - 3 845 c.187C>T c.(187-189)CTT>TTT p.L63F RSPO2_uc003ymq.2_5'UTR|RSPO2_uc003ymr.2_Intron NM_178565 NP_848660 Q6UXX9 RSPO2_HUMAN R-spondin family, member 2 precursor 63 Wnt receptor signaling pathway extracellular region heparin binding skin(3)|ovary(2)|pancreas(1)|lung(1) 7 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) TCTCTTCGAAGGAAGAAGAAC 0.468 25 35 --- --- --- --- PASS RSPO2 340419 broad.mit.edu 37 8 109001382 109001382 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:109001382A>G uc003yms.2 - 3 843 c.185T>C c.(184-186)TTC>TCC p.F62S RSPO2_uc003ymq.2_5'UTR|RSPO2_uc003ymr.2_Intron NM_178565 NP_848660 Q6UXX9 RSPO2_HUMAN R-spondin family, member 2 precursor 62 Wnt receptor signaling pathway extracellular region heparin binding skin(3)|ovary(2)|pancreas(1)|lung(1) 7 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) TCTTCGAAGGAAGAAGAACAA 0.468 25 34 --- --- --- --- PASS TMEM74 157753 broad.mit.edu 37 8 109796878 109796878 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:109796878C>T uc003ymy.1 - 2 555 c.450G>A c.(448-450)GAG>GAA p.E150E TMEM74_uc003ymx.2_Intron NM_153015 NP_694560 Q96NL1 TMM74_HUMAN transmembrane protein 74 150 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) ATATGGCAGCCTCTTGGGACC 0.493 10 31 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110425768 110425768 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:110425768G>A uc003yne.2 + 21 2458 c.2354G>A c.(2353-2355)GGA>GAA p.G785E NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 785 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTTGCTTATGGAAACAAGTAA 0.313 HNSCC(38;0.096) 3 7 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110437378 110437378 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:110437378A>T uc003yne.2 + 24 2866 c.2762A>T c.(2761-2763)AAA>ATA p.K921I NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 921 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GGCGAGTCAAAAATTCATATT 0.318 HNSCC(38;0.096) 14 27 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110457850 110457850 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:110457850C>T uc003yne.2 + 38 5856 c.5752C>T c.(5752-5754)CTC>TTC p.L1918F NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1918 Extracellular (Potential).|IPT/TIG 12. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TACTCCATTTCTCAGAGGAAT 0.358 HNSCC(38;0.096) 5 15 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110530644 110530644 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:110530644G>A uc003yne.2 + 73 12042 c.11938G>A c.(11938-11940)GGG>AGG p.G3980R NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3980 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CAAAATAAGAGGGAAGAGTCT 0.393 HNSCC(38;0.096) 24 50 --- --- --- --- PASS KCNV1 27012 broad.mit.edu 37 8 110980452 110980452 + Missense_Mutation SNP C G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:110980452C>G uc003ynr.3 - 3 1710 c.1368G>C c.(1366-1368)AAG>AAC p.K456N KCNV1_uc010mcw.2_Missense_Mutation_p.K456N NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 456 Cytoplasmic (Potential). voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity lung(1)|kidney(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) TGGCTATATTCTTGGTAAGCT 0.433 15 33 --- --- --- --- PASS KCNV1 27012 broad.mit.edu 37 8 110980599 110980599 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:110980599G>A uc003ynr.3 - 3 1563 c.1221C>T c.(1219-1221)ATC>ATT p.I407I KCNV1_uc010mcw.2_Silent_p.I407I NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 407 Helical; Name=Segment S6; (Potential). voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity lung(1)|kidney(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) TGAAGGCCACGATTTTGCCTG 0.473 35 58 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113299319 113299319 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:113299319C>T uc003ynu.2 - 58 9464 c.9305G>A c.(9304-9306)TGG>TAG p.W3102* CSMD3_uc003yns.2_Nonsense_Mutation_p.W2304*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.W3062*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.W2933* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3102 Extracellular (Potential).|Sushi 22. 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 CCTTCCGGTCCAACTGCCATT 0.383 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 14 38 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113303820 113303820 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:113303820G>A uc003ynu.2 - 56 9052 c.8893C>T c.(8893-8895)CCT>TCT p.P2965S CSMD3_uc003yns.2_Missense_Mutation_p.P2167S|CSMD3_uc003ynt.2_Missense_Mutation_p.P2925S|CSMD3_uc011lhx.1_Missense_Mutation_p.P2796S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2965 Extracellular (Potential).|Sushi 20. 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 AAATATCCAGGATTGCAGTCA 0.343 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 15 44 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113562986 113562986 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:113562986C>T uc003ynu.2 - 27 4637 c.4478G>A c.(4477-4479)GGA>GAA p.G1493E CSMD3_uc003yns.2_Missense_Mutation_p.G765E|CSMD3_uc003ynt.2_Missense_Mutation_p.G1453E|CSMD3_uc011lhx.1_Missense_Mutation_p.G1389E NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1493 Extracellular (Potential).|CUB 8. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GCTATGAATTCCTTCAGGAAT 0.358 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 19 31 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113564835 113564835 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:113564835C>T uc003ynu.2 - 26 4508 c.4349G>A c.(4348-4350)GGA>GAA p.G1450E CSMD3_uc003yns.2_Missense_Mutation_p.G722E|CSMD3_uc003ynt.2_Missense_Mutation_p.G1410E|CSMD3_uc011lhx.1_Missense_Mutation_p.G1346E NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1450 Extracellular (Potential).|CUB 8. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GACAATATTTCCAGGATCTAC 0.348 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 7 32 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113564926 113564926 + Nonsense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:113564926C>A uc003ynu.2 - 26 4417 c.4258G>T c.(4258-4260)GGA>TGA p.G1420* CSMD3_uc003yns.2_Nonsense_Mutation_p.G692*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.G1380*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.G1316* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1420 Extracellular (Potential).|CUB 8. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GATGATTCTCCTTTAAAACGA 0.343 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 54 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 114111025 114111025 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:114111025C>T uc003ynu.2 - 5 1036 c.877G>A c.(877-879)GAT>AAT p.D293N CSMD3_uc003ynt.2_Missense_Mutation_p.D253N|CSMD3_uc011lhx.1_Missense_Mutation_p.D293N|CSMD3_uc010mcx.1_Missense_Mutation_p.D293N NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 293 Extracellular (Potential).|CUB 2. 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 TCTAAGTAATCATATTTCTCT 0.363 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 7 28 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 114290921 114290921 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:114290921G>A uc003ynu.2 - 3 573 c.414C>T c.(412-414)TTC>TTT p.F138F CSMD3_uc003ynt.2_Silent_p.F98F|CSMD3_uc011lhx.1_Silent_p.F138F|CSMD3_uc010mcx.1_Silent_p.F138F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 138 Extracellular (Potential).|CUB 1. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GTGGCAGATGGAATCCTGTTA 0.318 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 16 26 --- --- --- --- PASS COLEC10 10584 broad.mit.edu 37 8 120118127 120118127 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:120118127G>A uc003yoo.2 + 6 628 c.531G>A c.(529-531)AGG>AGA p.R177R NM_006438 NP_006429 Q9Y6Z7 COL10_HUMAN collectin sub-family member 10 precursor 177 C-type lectin. collagen|cytoplasm mannose binding ovary(2)|skin(1) 3 all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00113) CCCACTGCAGGATTCGGGGTG 0.507 23 25 --- --- --- --- PASS ENPP2 5168 broad.mit.edu 37 8 120581497 120581497 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:120581497G>A uc003yot.1 - 21 2117 c.2031C>T c.(2029-2031)TCC>TCT p.S677S ENPP2_uc011lic.1_Silent_p.S215S|ENPP2_uc003yor.1_Silent_p.S312S|ENPP2_uc003yos.1_Silent_p.S729S|ENPP2_uc010mdd.1_Silent_p.S702S NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 677 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GGAATCCGTAGGACATCTGCT 0.453 52 71 --- --- --- --- PASS ENPP2 5168 broad.mit.edu 37 8 120602865 120602865 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:120602865C>T uc003yot.1 - 13 1173 c.1087G>A c.(1087-1089)GAA>AAA p.E363K ENPP2_uc003yor.1_Missense_Mutation_p.E2K|ENPP2_uc003yos.1_Missense_Mutation_p.E415K|ENPP2_uc010mdd.1_Missense_Mutation_p.E363K NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 363 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GTGACATCTTCCATTCCTATG 0.363 12 21 --- --- --- --- PASS TAF2 6873 broad.mit.edu 37 8 120797488 120797488 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:120797488G>A uc003you.2 - 15 2082 c.1812C>T c.(1810-1812)ATC>ATT p.I604I NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 604 I -> K (in Ref. 6; AAH35673/AAH47732). G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(2)|ovary(2)|kidney(1)|skin(1) 6 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TCATCAGTGGGATTTTTTTCT 0.294 7 23 --- --- --- --- PASS COL14A1 7373 broad.mit.edu 37 8 121243858 121243858 + Splice_Site SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:121243858G>A uc003yox.2 + 19 2614 c.2349_splice c.e19+1 p.T783_splice COL14A1_uc003yoy.2_Splice_Site_p.T461_splice NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CATAGGAACGGTCTGTATAAA 0.443 11 26 --- --- --- --- PASS ATAD2 29028 broad.mit.edu 37 8 124358871 124358871 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:124358871G>A uc003yqh.3 - 17 2440 c.2332C>T c.(2332-2334)CTT>TTT p.L778F ATAD2_uc011lii.1_Missense_Mutation_p.L569F|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.L778F NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 778 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) TTCAAATGAAGAAAATTAAAA 0.279 14 25 --- --- --- --- PASS FER1L6 654463 broad.mit.edu 37 8 125076649 125076649 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:125076649C>T uc003yqw.2 + 26 3596 c.3390C>T c.(3388-3390)CCC>CCT p.P1130P uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 1130 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) CCCAGGATCCCCCAGCAGATC 0.572 27 83 --- --- --- --- PASS FER1L6 654463 broad.mit.edu 37 8 125107243 125107243 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:125107243G>A uc003yqw.2 + 35 4865 c.4659G>A c.(4657-4659)CGG>CGA p.R1553R uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 1553 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) TAGAAACTCGGCCACTGTACC 0.463 25 37 --- --- --- --- PASS MTSS1 9788 broad.mit.edu 37 8 125580630 125580630 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:125580630C>T uc003yrk.2 - 7 1142 c.608G>A c.(607-609)CGG>CAG p.R203Q NDUFB9_uc011lim.1_3'UTR|MTSS1_uc011lin.1_5'Flank|MTSS1_uc011lio.1_Missense_Mutation_p.R93Q|MTSS1_uc003yri.2_Missense_Mutation_p.R3Q|MTSS1_uc003yrj.2_Missense_Mutation_p.R203Q|MTSS1_uc003yrl.2_Missense_Mutation_p.R207Q NM_014751 NP_055566 O43312 MTSS1_HUMAN metastasis suppressor 1 203 IMD. actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding ovary(1) 1 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) AATCACTGGCCGCAGCATAGA 0.428 16 33 --- --- --- --- PASS SQLE 6713 broad.mit.edu 37 8 126021463 126021463 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:126021463C>T uc011liq.1 + 6 1912 c.986C>T c.(985-987)CCG>CTG p.P329L NM_003129 NP_003120 Q14534 ERG1_HUMAN squalene epoxidase 329 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome flavin adenine dinucleotide binding|squalene monooxygenase activity ovary(1)|breast(1) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857) TTAGCTAACCCGAGTCCAGTT 0.323 18 59 --- --- --- --- PASS KIAA0196 9897 broad.mit.edu 37 8 126071656 126071656 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:126071656G>A uc003yrt.2 - 13 1979 c.1650C>T c.(1648-1650)ATC>ATT p.I550I KIAA0196_uc011lir.1_Silent_p.I402I|KIAA0196_uc003yru.1_Silent_p.I124I NM_014846 NP_055661 Q12768 STRUM_HUMAN strumpellin 550 cell death WASH complex ovary(2) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) GGTCCCCAACGATCTGCATTG 0.423 43 36 --- --- --- --- PASS FAM49B 51571 broad.mit.edu 37 8 130874574 130874574 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:130874574G>A uc003yss.2 - 8 751 c.202C>T c.(202-204)CAG>TAG p.Q68* FAM49B_uc003yst.2_Nonsense_Mutation_p.Q68*|FAM49B_uc003ysu.2_Nonsense_Mutation_p.Q68*|FAM49B_uc003ysv.2_Intron|FAM49B_uc003ysw.2_Nonsense_Mutation_p.Q68*|FAM49B_uc003ysx.2_Nonsense_Mutation_p.Q68*|FAM49B_uc003ysy.1_Nonsense_Mutation_p.Q68* NM_016623 NP_057707 Q9NUQ9 FA49B_HUMAN hypothetical protein LOC51571 68 0 Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155) LUAD - Lung adenocarcinoma(14;0.0989) GCTGGATGCTGGATTGCCTTC 0.338 20 50 --- --- --- --- PASS ADCY8 114 broad.mit.edu 37 8 131896830 131896830 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:131896830C>T uc003ytd.3 - 8 2345 c.2089G>A c.(2089-2091)GAC>AAC p.D697N ADCY8_uc010mds.2_Missense_Mutation_p.D697N NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 697 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) AGGCTGGAGTCTTTAAACATC 0.468 HNSCC(32;0.087) 31 69 --- --- --- --- PASS ADCY8 114 broad.mit.edu 37 8 131896949 131896949 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:131896949G>A uc003ytd.3 - 8 2226 c.1970C>T c.(1969-1971)GCT>GTT p.A657V ADCY8_uc010mds.2_Missense_Mutation_p.A657V NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 657 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) GACATGCAAAGCTTGTGCAAG 0.443 HNSCC(32;0.087) 35 84 --- --- --- --- PASS OC90 729330 broad.mit.edu 37 8 133036823 133036823 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:133036823C>T uc003ytg.2 - 13 1339 c.1339G>A c.(1339-1341)GAG>AAG p.E447K OC90_uc011lix.1_Missense_Mutation_p.E447K NM_001080399 NP_001073868 Q02509 OC90_HUMAN otoconin 90 463 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity ovary(2)|skin(1) 3 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) GGGTCCTCCTCGCTGTCCTCC 0.647 6 13 --- --- --- --- PASS OC90 729330 broad.mit.edu 37 8 133036847 133036847 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:133036847C>T uc003ytg.2 - 13 1315 c.1315G>A c.(1315-1317)GGC>AGC p.G439S OC90_uc011lix.1_Missense_Mutation_p.G439S NM_001080399 NP_001073868 Q02509 OC90_HUMAN otoconin 90 455 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity ovary(2)|skin(1) 3 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) GAGCTGGAGCCCAGGGTGGGG 0.647 7 10 --- --- --- --- PASS OC90 729330 broad.mit.edu 37 8 133045358 133045358 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:133045358G>A uc003ytg.2 - 10 787 c.787C>T c.(787-789)CCT>TCT p.P263S OC90_uc011lix.1_Missense_Mutation_p.P263S NM_001080399 NP_001073868 Q02509 OC90_HUMAN otoconin 90 279 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity ovary(2)|skin(1) 3 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) ATGCCAGCAGGGACAAGGGTT 0.448 4 15 --- --- --- --- PASS PHF20L1 51105 broad.mit.edu 37 8 133854821 133854821 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:133854821C>T uc003ytt.2 + 19 2774 c.2449C>T c.(2449-2451)CAA>TAA p.Q817* PHF20L1_uc011lja.1_Nonsense_Mutation_p.Q791* NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 817 nucleic acid binding|zinc ion binding ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) AGACCAAGATCAAATAATAGC 0.388 24 37 --- --- --- --- PASS ZFAT 57623 broad.mit.edu 37 8 135614580 135614580 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:135614580G>A uc003yup.2 - 6 1557 c.1382C>T c.(1381-1383)GCC>GTC p.A461V ZFAT_uc003yun.2_Missense_Mutation_p.A449V|ZFAT_uc003yuo.2_Missense_Mutation_p.A449V|ZFAT_uc010meh.2_Missense_Mutation_p.A449V|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.A449V|ZFAT_uc010mej.2_Missense_Mutation_p.A399V|ZFAT_uc003yur.2_Missense_Mutation_p.A449V NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 461 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) GCGGCAGACGGCACAGACGTA 0.602 10 30 --- --- --- --- PASS KHDRBS3 10656 broad.mit.edu 37 8 136533515 136533515 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:136533515G>A uc003yuv.2 + 2 518 c.124G>A c.(124-126)GAA>AAA p.E42K KHDRBS3_uc003yuw.2_Missense_Mutation_p.E42K NM_006558 NP_006549 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal 42 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding ovary(2) 2 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) AGGCAAGGATGAAGAAAAGTA 0.408 38 79 --- --- --- --- PASS KHDRBS3 10656 broad.mit.edu 37 8 136561054 136561054 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:136561054C>T uc003yuv.2 + 4 776 c.382C>T c.(382-384)CAT>TAT p.H128Y KHDRBS3_uc003yuw.2_Missense_Mutation_p.H128Y NM_006558 NP_006549 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal 128 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding ovary(2) 2 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) TGATGATCTCCATGTTCTCAT 0.403 9 15 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139144926 139144926 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:139144926C>T uc003yuy.2 - 20 4302 c.4131G>A c.(4129-4131)CTG>CTA p.L1377L FAM135B_uc003yux.2_Silent_p.L1278L|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1377 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CTCGGCCGATCAGGGTGTTGG 0.527 HNSCC(54;0.14) 39 83 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139190891 139190891 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:139190891C>T uc003yuy.2 - 10 1087 c.916G>A c.(916-918)GAT>AAT p.D306N FAM135B_uc003yux.2_Missense_Mutation_p.D207N|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 306 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CAGGCCAGATCCTTGCTTATC 0.512 HNSCC(54;0.14) 20 36 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139263169 139263169 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:139263169G>A uc003yuy.2 - 6 628 c.457C>T c.(457-459)CCG>TCG p.P153S FAM135B_uc003yux.2_Missense_Mutation_p.P54S|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 153 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AACATGACCGGGACCTGGTGG 0.587 HNSCC(54;0.14) 40 75 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139696711 139696711 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:139696711C>T uc003yvd.2 - 39 3416 c.2969G>A c.(2968-2970)GGA>GAA p.G990E COL22A1_uc011ljo.1_Missense_Mutation_p.G290E NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 990 Pro-rich.|Gly-rich. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TCCACGGAGTCCCTGGAGAAA 0.537 HNSCC(7;0.00092) 37 62 --- --- --- --- PASS SLC45A4 57210 broad.mit.edu 37 8 142222527 142222527 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:142222527C>T uc003ywd.1 - 7 2225 c.1917G>A c.(1915-1917)GGG>GGA p.G639G SLC45A4_uc003ywc.1_Silent_p.G639G|SLC45A4_uc010meq.1_Silent_p.G637G NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 690 transport integral to membrane ovary(2) 2 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CGCGGACAGTCCCCACGGCGT 0.612 19 31 --- --- --- --- PASS SLC45A4 57210 broad.mit.edu 37 8 142238345 142238345 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:142238345G>A uc003ywd.1 - 1 329 c.21C>T c.(19-21)GCC>GCT p.A7A SLC45A4_uc003ywc.1_Silent_p.A7A|SLC45A4_uc010meq.1_Intron NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 Error:Variant_position_missing_in_Q5BKX6_after_alignment transport integral to membrane ovary(2) 2 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) ACAGCCCTGAGGCTGGGCTTG 0.547 34 44 --- --- --- --- PASS FLJ43860 389690 broad.mit.edu 37 8 142506592 142506592 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:142506592G>A uc003ywi.2 - 2 171 c.90C>T c.(88-90)CCC>CCT p.P30P FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN hypothetical protein LOC389690 30 binding 0 all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) TGGAGACAGGGGGGGAGATTC 0.557 15 19 --- --- --- --- PASS BAI1 575 broad.mit.edu 37 8 143560703 143560703 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:143560703C>T uc003ywm.2 + 7 1764 c.1581C>T c.(1579-1581)GCC>GCT p.A527A NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 527 Extracellular (Potential).|TSP type-1 5. axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) AGTGGCAGGCCTGGGCGTCAT 0.672 6 7 --- --- --- --- PASS ZNF696 79943 broad.mit.edu 37 8 144378708 144378708 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:144378708C>T uc003yxy.3 + 3 1272 c.863C>T c.(862-864)ACG>ATG p.T288M NM_030895 NP_112157 Q9H7X3 ZN696_HUMAN zinc finger protein 696 288 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) CGCGTGCACACGGGGGAGCGG 0.726 5 8 --- --- --- --- PASS ZNF707 286075 broad.mit.edu 37 8 144773320 144773320 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:144773320C>T uc003yze.3 + 5 408 c.93C>T c.(91-93)GCC>GCT p.A31A ZNF707_uc010mfh.2_Silent_p.A31A|ZNF707_uc010mfi.2_Silent_p.A31A|ZNF707_uc003yzf.3_Silent_p.A31A|ZNF707_uc003yzh.3_5'UTR|ZNF707_uc011lkq.1_Intron NM_173831 NP_776192 Q96C28 ZN707_HUMAN zinc finger protein 707 31 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1) 1 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GCCAGAGGGCCCTCTACCGGG 0.622 13 20 --- --- --- --- PASS ZNF707 286075 broad.mit.edu 37 8 144773321 144773321 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:144773321C>T uc003yze.3 + 5 409 c.94C>T c.(94-96)CTC>TTC p.L32F ZNF707_uc010mfh.2_Missense_Mutation_p.L32F|ZNF707_uc010mfi.2_Missense_Mutation_p.L32F|ZNF707_uc003yzf.3_Missense_Mutation_p.L32F|ZNF707_uc003yzh.3_5'UTR|ZNF707_uc011lkq.1_Intron NM_173831 NP_776192 Q96C28 ZN707_HUMAN zinc finger protein 707 32 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1) 1 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CCAGAGGGCCCTCTACCGGGA 0.627 13 21 --- --- --- --- PASS SCRIB 23513 broad.mit.edu 37 8 144890812 144890812 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:144890812C>T uc003yzp.1 - 15 2089 c.2082G>A c.(2080-2082)AAG>AAA p.K694K SCRIB_uc003yzo.1_Silent_p.K694K NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 694 Potential.|Glu-rich.|Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CGGCCCCCTCCTTGTCCTCCT 0.473 11 13 --- --- --- --- PASS EPPK1 83481 broad.mit.edu 37 8 144940426 144940426 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:144940426C>T uc003zaa.1 - 2 15019 c.15006G>A c.(15004-15006)CGG>CGA p.R5002R NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 5002 Plectin 63. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGCCGTGCTCCCGGACGATGA 0.711 9 158 --- --- --- --- PASS MAF1 84232 broad.mit.edu 37 8 145160625 145160625 + Silent SNP C T T rs139701481 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:145160625C>T uc003zbc.1 + 2 540 c.39C>T c.(37-39)AAC>AAT p.N13N SHARPIN_uc003zba.2_5'Flank|SHARPIN_uc003zbb.2_5'Flank|KIAA1875_uc003zbd.3_5'Flank NM_032272 NP_115648 Q9H063 MAF1_HUMAN MAF1 protein 13 negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent cytoplasm|nucleus 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AAGCCATCAACTCACAGCTGA 0.582 11 57 --- --- --- --- PASS FBXL6 26233 broad.mit.edu 37 8 145579815 145579815 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:145579815C>T uc003zcb.2 - 8 1310 c.1285G>A c.(1285-1287)GAG>AAG p.E429K C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_Missense_Mutation_p.E156K|FBXL6_uc003zca.2_Missense_Mutation_p.E423K|FBXL6_uc010mfx.2_Missense_Mutation_p.E190K|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank NM_012162 NP_036294 Q8N531 FBXL6_HUMAN F-box and leucine-rich repeat protein 6 isoform 429 LRR 9. proteolysis ubiquitin-protein ligase activity ovary(1)|lung(1) 2 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) GGGCTGCCCTCCTTGGCTAGA 0.577 23 45 --- --- --- --- PASS VPS28 51160 broad.mit.edu 37 8 145649603 145649603 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:145649603C>T uc003zcr.1 - 7 504 c.451G>A c.(451-453)GAT>AAT p.D151N VPS28_uc003zcs.1_Missense_Mutation_p.D151N|VPS28_uc003zct.1_Missense_Mutation_p.D151N NM_016208 NP_057292 Q9UK41 VPS28_HUMAN vacuolar protein sorting 28 isoform 1 151 VPS28 C-terminal. cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport cytosol|late endosome membrane|plasma membrane protein binding 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CGCACCTCATCCATGGCGCGG 0.682 10 18 --- --- --- --- PASS NFKBIL2 4796 broad.mit.edu 37 8 145666202 145666202 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:145666202G>A uc011llg.1 - 9 1078 c.1063C>T c.(1063-1065)CAC>TAC p.H355Y NM_013432 NP_038460 Q96HA7 TONSL_HUMAN NF-kappa-B inhibitor-like protein 2 355 TPR 8. cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity 0 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) AGGGACACGTGGATGATGGCC 0.667 13 29 --- --- --- --- PASS ZNF517 340385 broad.mit.edu 37 8 146032912 146032912 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:146032912C>T uc003zed.1 + 5 718 c.611C>T c.(610-612)CCC>CTC p.P204L ZNF517_uc010mgd.1_Missense_Mutation_p.P110L|ZNF517_uc003zee.1_RNA|ZNF517_uc011llm.1_Missense_Mutation_p.P110L|ZNF517_uc003zef.1_Intron NM_213605 NP_998770 Q6ZMY9 ZN517_HUMAN zinc finger protein 517 204 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GGCGCCAAGCCCTTCCAGTGC 0.627 3 9 --- --- --- --- PASS ZNF16 7564 broad.mit.edu 37 8 146157806 146157806 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr8:146157806C>A uc003zet.2 - 4 554 c.367G>T c.(367-369)GGC>TGC p.G123C ZNF16_uc003zeu.2_Missense_Mutation_p.G123C NM_001029976 NP_001025147 P17020 ZNF16_HUMAN zinc finger protein 16 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) AGCCTCCTGCCTTCGGGGACT 0.552 28 46 --- --- --- --- PASS DOCK8 81704 broad.mit.edu 37 9 439280 439280 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:439280C>T uc003zgf.2 + 40 5227 c.5115C>T c.(5113-5115)GTC>GTT p.V1705V DOCK8_uc010mgu.2_Silent_p.V1007V|DOCK8_uc010mgv.2_Silent_p.V1605V|DOCK8_uc003zgk.2_Silent_p.V1163V NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1705 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) AGTCTGTGGTCTCTGAGGACA 0.567 16 11 --- --- --- --- PASS KIAA1432 57589 broad.mit.edu 37 9 5753603 5753603 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:5753603C>T uc003zji.2 + 13 1415 c.1322C>T c.(1321-1323)TCT>TTT p.S441F KIAA1432_uc003zjh.2_Missense_Mutation_p.S441F|KIAA1432_uc003zjl.3_Intron|KIAA1432_uc003zjj.1_Intron NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 520 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) GCACATTACTCTTTACTCACC 0.303 6 13 --- --- --- --- PASS KIAA2026 158358 broad.mit.edu 37 9 5920369 5920369 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:5920369A>G uc003zjq.3 - 8 5843 c.5627T>C c.(5626-5628)ATA>ACA p.I1876T KIAA2026_uc010mht.2_Missense_Mutation_p.I1051T NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 1876 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) ATTGATGACTATTTTTTGCTG 0.473 77 65 --- --- --- --- PASS PTPRD 5789 broad.mit.edu 37 9 8486186 8486186 + Silent SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:8486186T>C uc003zkk.2 - 27 3342 c.2631A>G c.(2629-2631)GAA>GAG p.E877E PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Silent_p.E868E|PTPRD_uc003zkm.2_Silent_p.E864E|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 877 Fibronectin type-III 6.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TAAAGTGATCTTCTTTTTCAG 0.488 TSP Lung(15;0.13) 13 9 --- --- --- --- PASS PTPRD 5789 broad.mit.edu 37 9 8500786 8500786 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:8500786C>T uc003zkk.2 - 23 2807 c.2096G>A c.(2095-2097)AGC>AAC p.S699N PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.S699N|PTPRD_uc003zkm.2_Missense_Mutation_p.S686N|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 699 Fibronectin type-III 4.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CACGGACAAGCTCTCAGGGCC 0.493 TSP Lung(15;0.13) 22 28 --- --- --- --- PASS TYRP1 7306 broad.mit.edu 37 9 12708128 12708128 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:12708128G>A uc003zkv.3 + 7 1571 c.1393G>A c.(1393-1395)GAA>AAA p.E465K NM_000550 NP_000541 P17643 TYRP1_HUMAN tyrosinase-related protein 1 precursor 465 Lumenal, melanosome (Potential). melanin biosynthetic process clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity lung(1) 1 all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744) GBM - Glioblastoma multiforme(50;9.85e-06) ATACACTTATGAAATTCAATG 0.378 Oculocutaneous_Albinism 11 16 --- --- --- --- PASS FREM1 158326 broad.mit.edu 37 9 14868822 14868822 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:14868822G>A uc003zlm.2 - 2 744 c.154C>T c.(154-156)CCT>TCT p.P52S FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 52 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) TTCTCTTTAGGGATGGCAAAC 0.537 5 7 --- --- --- --- PASS BNC2 54796 broad.mit.edu 37 9 16419455 16419455 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:16419455G>A uc003zml.2 - 7 2972 c.2832C>T c.(2830-2832)TCC>TCT p.S944S BNC2_uc011lmw.1_Silent_p.S849S|BNC2_uc003zmm.2_3'UTR|BNC2_uc011lmv.1_3'UTR|BNC2_uc003zmj.2_3'UTR|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Silent_p.S731S NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 944 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) CGTTCAGGTGGGAGTCTTCAG 0.572 17 15 --- --- --- --- PASS ADAMTSL1 92949 broad.mit.edu 37 9 18681849 18681849 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:18681849G>A uc003zne.3 + 12 1508 c.1381G>A c.(1381-1383)GTC>ATC p.V461I ADAMTSL1_uc003znc.3_Missense_Mutation_p.V461I NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 461 TSP type-1 3. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) ATACCGTGTGGTCCTCTGCAT 0.502 70 70 --- --- --- --- PASS DENND4C 55667 broad.mit.edu 37 9 19325943 19325943 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:19325943C>T uc003znq.2 + 10 1285 c.1252C>T c.(1252-1254)CCT>TCT p.P418S DENND4C_uc011lnc.1_5'UTR NM_017925 NP_060395 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 418 integral to membrane ovary(1)|skin(1) 2 CTAGTTGTTTCCTGATAAAGG 0.279 14 18 --- --- --- --- PASS IFNA10 3446 broad.mit.edu 37 9 21206665 21206665 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:21206665C>T uc003zoq.1 - 1 478 c.432G>A c.(430-432)AGG>AGA p.R144R IFNA14_uc003zoo.1_Intron NM_002171 NP_002162 P01566 IFN10_HUMAN interferon, alpha 10 precursor 144 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17) GGAAGTATTTCCTCACAGCCA 0.463 69 62 --- --- --- --- PASS TAF1L 138474 broad.mit.edu 37 9 32631621 32631621 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:32631621C>T uc003zrg.1 - 1 4047 c.3957G>A c.(3955-3957)GAG>GAA p.E1319E uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1319 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CCAACTCCTCCTCCTGCTCTT 0.423 63 50 --- --- --- --- PASS BAG1 573 broad.mit.edu 37 9 33256816 33256816 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:33256816C>T uc003zsj.2 - 5 957 c.868G>A c.(868-870)GAG>AAG p.E290K SUGT1P1_uc010mjq.1_Intron|BAG1_uc003zsi.2_Missense_Mutation_p.E152K|BAG1_uc003zsk.2_Missense_Mutation_p.E116K NM_004323 NP_004314 Q99933 BAG1_HUMAN BCL2-associated athanogene isoform 1L 290 Interaction with PPP1R15A.|BAG. anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding cytoplasm|intermediate filament cytoskeleton|nucleus protein binding|receptor signaling protein activity ovary(1) 1 LUSC - Lung squamous cell carcinoma(29;0.00506) TCAATCTCCTCCAAGATCTTC 0.398 20 29 --- --- --- --- PASS DNAI1 27019 broad.mit.edu 37 9 34513163 34513163 + Missense_Mutation SNP G A A rs79833450 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:34513163G>A uc003zum.2 + 16 1736 c.1543G>A c.(1543-1545)GGC>AGC p.G515S NM_012144 NP_036276 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 515 G -> S (in KTGS). cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity 0 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) GTTCCTAGTGGGCACAGAGGA 0.537 Kartagener_syndrome 38 59 --- --- --- --- PASS TESK1 7016 broad.mit.edu 37 9 35606845 35606845 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:35606845G>T uc003zxa.2 + 4 738 c.402G>T c.(400-402)GGG>GGT p.G134G TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Missense_Mutation_p.G2V NM_006285 NP_006276 Q15569 TESK1_HUMAN testis-specific protein kinase 1 134 Protein kinase. cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1) 7 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) ATATGAATGGGGGGACATTGG 0.388 4 20 --- --- --- --- PASS TLN1 7094 broad.mit.edu 37 9 35708459 35708459 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:35708459G>A uc003zxt.2 - 34 4703 c.4349C>T c.(4348-4350)TCT>TTT p.S1450F NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 1450 Interaction with SYNM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) ATTGGGGTCAGAGACACCAAC 0.522 26 14 --- --- --- --- PASS PAX5 5079 broad.mit.edu 37 9 36923392 36923392 + Silent SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:36923392C>A uc003zzo.1 - 7 1318 c.870G>T c.(868-870)GGG>GGT p.G290G PAX5_uc011lpt.1_Silent_p.G86G|PAX5_uc011lpu.1_Intron|PAX5_uc011lpv.1_Intron|PAX5_uc011lpw.1_Silent_p.G290G|PAX5_uc011lpx.1_Silent_p.G224G|PAX5_uc011lpy.1_Silent_p.G182G|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Silent_p.G247G|PAX5_uc011lqa.1_Silent_p.G182G|PAX5_uc010mlq.1_Intron|PAX5_uc011lqb.1_Intron|PAX5_uc010mlo.1_Silent_p.G290G|PAX5_uc010mlp.1_Silent_p.G290G|PAX5_uc011lqc.1_Silent_p.G247G|PAX5_uc010mlr.1_Intron NM_016734 NP_057953 Q02548 PAX5_HUMAN paired box 5 290 cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(23) PAX5/JAK2(18) haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2) 147 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) GCACACTGCTCCCGATGTCAG 0.607 T|Mis|D|F|S IGH@|ETV6|PML|FOXP1|ZNF521|ELN NHL|ALL|B-ALL 5 11 --- --- --- --- PASS PIP5K1B 8395 broad.mit.edu 37 9 71503934 71503934 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:71503934A>G uc004agu.2 + 7 661 c.356A>G c.(355-357)AAC>AGC p.N119S PIP5K1B_uc011lrq.1_Missense_Mutation_p.N119S|PIP5K1B_uc004agv.2_RNA NM_003558 NP_003549 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 119 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding stomach(1) 1 Lung(182;0.133) GAACTGTCTAACCCTGGAGCC 0.388 23 22 --- --- --- --- PASS TJP2 9414 broad.mit.edu 37 9 71864304 71864304 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:71864304C>T uc004ahe.2 + 20 3094 c.2894C>T c.(2893-2895)CCC>CTC p.P965L TJP2_uc011lrs.1_Intron|TJP2_uc004ahf.2_Intron|TJP2_uc011lru.1_Intron|TJP2_uc011lrv.1_Missense_Mutation_p.P987L|TJP2_uc010mom.1_Intron NM_004817 NP_004808 Q9UDY2 ZO2_HUMAN tight junction protein 2 (zona occludens 2) 965 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding 0 ATAAGGAAACCCAGCCCAGAG 0.522 6 6 --- --- --- --- PASS TRPM3 80036 broad.mit.edu 37 9 73213401 73213401 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:73213401G>A uc004aid.2 - 20 3190 c.2946C>T c.(2944-2946)ATC>ATT p.I982I TRPM3_uc004ahu.2_Silent_p.I812I|TRPM3_uc004ahv.2_Silent_p.I784I|TRPM3_uc004ahw.2_Silent_p.I854I|TRPM3_uc004ahx.2_Silent_p.I841I|TRPM3_uc004ahy.2_Silent_p.I844I|TRPM3_uc004ahz.2_Silent_p.I831I|TRPM3_uc004aia.2_Silent_p.I829I|TRPM3_uc004aib.2_Silent_p.I819I|TRPM3_uc004aic.2_Silent_p.I982I NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 1007 Helical; (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 CTAGGAGACGGATATACCAGT 0.453 52 38 --- --- --- --- PASS TMEM2 23670 broad.mit.edu 37 9 74332991 74332991 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:74332991G>A uc011lsa.1 - 13 2812 c.2272C>T c.(2272-2274)CGA>TGA p.R758* TMEM2_uc010mos.2_Nonsense_Mutation_p.R695*|TMEM2_uc011lsb.1_RNA NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 isoform a 758 integral to membrane ovary(2) 2 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) TGATGAGGTCGAAATCTAGGG 0.338 17 22 --- --- --- --- PASS TMEM2 23670 broad.mit.edu 37 9 74349793 74349793 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:74349793G>A uc011lsa.1 - 6 1862 c.1322C>T c.(1321-1323)TCC>TTC p.S441F TMEM2_uc010mos.2_Intron|TMEM2_uc011lsb.1_RNA NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 isoform a 441 integral to membrane ovary(2) 2 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) TTGGTACATGGAATAGTCTGT 0.438 47 38 --- --- --- --- PASS TMC1 117531 broad.mit.edu 37 9 75355088 75355088 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:75355088G>A uc004aiz.1 + 9 956 c.416G>A c.(415-417)GGA>GAA p.G139E TMC1_uc010moz.1_Missense_Mutation_p.G97E|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_5'UTR|TMC1_uc010mpa.1_5'UTR NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 139 Cytoplasmic (Potential).|Arg/Asp/Glu/Lys-rich (highly charged). sensory perception of sound integral to membrane ovary(1) 1 AAAGGAAAAGGAAAACGGTGG 0.303 12 9 --- --- --- --- PASS TMC1 117531 broad.mit.edu 37 9 75387402 75387402 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:75387402G>A uc004aiz.1 + 13 1355 c.815G>A c.(814-816)AGG>AAG p.R272K TMC1_uc010moz.1_Missense_Mutation_p.R230K|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.R126K|TMC1_uc010mpa.1_Missense_Mutation_p.R126K NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 272 Extracellular (Potential). sensory perception of sound integral to membrane ovary(1) 1 ATGAATTTCAGGTTGCCGCTC 0.393 51 36 --- --- --- --- PASS TMC1 117531 broad.mit.edu 37 9 75420349 75420349 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:75420349C>T uc004aiz.1 + 18 2158 c.1618C>T c.(1618-1620)CTC>TTC p.L540F TMC1_uc010moz.1_Missense_Mutation_p.L498F|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.L394F|TMC1_uc010mpa.1_Missense_Mutation_p.L394F NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 540 Cytoplasmic (Potential). sensory perception of sound integral to membrane ovary(1) 1 CGTCACAATCCTCATTGGGGA 0.403 37 53 --- --- --- --- PASS RORB 6096 broad.mit.edu 37 9 77249547 77249547 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:77249547G>A uc004aji.2 + 3 176 c.127G>A c.(127-129)GGA>AGA p.G43R RORB_uc004ajh.2_Missense_Mutation_p.G32R NM_006914 NP_008845 Q92753 RORB_HUMAN RAR-related orphan receptor B 43 Nuclear receptor. eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(2)|lung(1)|skin(1) 4 TTCCCTCAAGGGATTCTTTAG 0.408 8 6 --- --- --- --- PASS C9orf41 138199 broad.mit.edu 37 9 77613660 77613660 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:77613660G>A uc004ajq.2 - 5 917 c.764C>T c.(763-765)CCT>CTT p.P255L C9orf41_uc011lsi.1_RNA NM_152420 NP_689633 Q8N4J0 CI041_HUMAN hypothetical protein LOC138199 255 ovary(1)|skin(1) 2 ATGGATCCAAGGATAAAGTTT 0.348 21 13 --- --- --- --- PASS PCSK5 5125 broad.mit.edu 37 9 78804556 78804556 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:78804556C>T uc004ajz.2 + 20 3058 c.2520C>T c.(2518-2520)ATC>ATT p.I840I PCSK5_uc004aka.2_RNA|PCSK5_uc004akb.2_Silent_p.I114I NM_006200 NP_006191 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 840 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 GATGTGATATCAGTTGTTTGA 0.393 22 16 --- --- --- --- PASS PRUNE2 158471 broad.mit.edu 37 9 79321662 79321662 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:79321662G>A uc010mpk.2 - 8 5652 c.5528C>T c.(5527-5529)CCA>CTA p.P1843L PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 1843 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 CCTTTCAAATGGACTTTCAAT 0.473 10 14 --- --- --- --- PASS PRUNE2 158471 broad.mit.edu 37 9 79324429 79324429 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:79324429G>A uc010mpk.2 - 8 2885 c.2761C>T c.(2761-2763)CTT>TTT p.L921F NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 921 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 TCCTCAAAAAGGTTCCAGGAA 0.398 66 53 --- --- --- --- PASS VPS13A 23230 broad.mit.edu 37 9 79862249 79862249 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:79862249C>T uc004akr.2 + 20 2235 c.1975C>T c.(1975-1977)CCA>TCA p.P659S VPS13A_uc004akp.3_Missense_Mutation_p.P659S|VPS13A_uc004akq.3_Missense_Mutation_p.P659S|VPS13A_uc004aks.2_Missense_Mutation_p.P659S NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 659 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 TATTATTGTCCCACAAGATGG 0.289 12 25 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 9 84676160 84676160 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:84676160C>T uc010mpu.1 - 3 268 c.265G>A c.(265-267)GAG>AAG p.E89K NM_001164339 NP_001157811 hypothetical protein LOC404770 TCCATAGGCTCAAGAGAGGAC 0.562 57 51 --- --- --- --- PASS KIF27 55582 broad.mit.edu 37 9 86468574 86468574 + Silent SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:86468574A>G uc004ana.2 - 15 3471 c.3327T>C c.(3325-3327)ATT>ATC p.I1109I KIF27_uc010mpw.2_Silent_p.I1043I|KIF27_uc010mpx.2_Silent_p.I1012I NM_017576 NP_060046 Q86VH2 KIF27_HUMAN kinesin family member 27 1109 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity lung(4)|skin(1) 5 GAATAGTTCTAATCTCAACAG 0.363 20 19 --- --- --- --- PASS NTRK2 4915 broad.mit.edu 37 9 87338487 87338487 + Splice_Site SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:87338487G>A uc004aoa.1 + 9 1522 c.584_splice c.e9-1 p.G195_splice NTRK2_uc004anv.1_Splice_Site_p.G195_splice|NTRK2_uc004any.1_Splice_Site_p.G195_splice|NTRK2_uc004anz.1_Splice_Site_p.G195_splice|NTRK2_uc011lsz.1_Splice_Site_p.G195_splice|NTRK2_uc011lta.1_Splice_Site_p.G195_splice|NTRK2_uc004aob.1_Splice_Site_p.G195_splice|NTRK2_uc011ltb.1_Splice_Site_p.G39_splice NM_001018064 NP_001018074 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1) 16 TTGTTCCATAGGTTTGCCATC 0.368 TSP Lung(25;0.17) 16 16 --- --- --- --- PASS NFIL3 4783 broad.mit.edu 37 9 94172935 94172935 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:94172935G>A uc004arh.2 - 2 477 c.82C>T c.(82-84)CTT>TTT p.L28F NM_005384 NP_005375 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 28 circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 GCAGAATTAAGGACCATCATC 0.468 25 31 --- --- --- --- PASS ROR2 4920 broad.mit.edu 37 9 94495518 94495518 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:94495518G>A uc004arj.1 - 6 1022 c.823C>T c.(823-825)CCG>TCG p.P275S ROR2_uc004ari.1_Missense_Mutation_p.P135S|ROR2_uc004ark.2_Missense_Mutation_p.P275S NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 275 FZ.|Extracellular (Potential). 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 AGGATGAGCGGGTTGGAGCGG 0.677 5 4 --- --- --- --- PASS HEMGN 55363 broad.mit.edu 37 9 100692960 100692960 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:100692960G>T uc004axy.2 - 3 825 c.717C>A c.(715-717)CCC>CCA p.P239P HEMGN_uc004axz.2_Silent_p.P239P NM_197978 NP_932095 Q9BXL5 HEMGN_HUMAN hemogen 239 cell differentiation|multicellular organismal development ovary(1) 1 Acute lymphoblastic leukemia(62;0.0559) GAAGGATTTTGGGTACAGCAG 0.413 5 98 --- --- --- --- PASS COL15A1 1306 broad.mit.edu 37 9 101806876 101806876 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:101806876C>T uc004azb.1 + 25 2807 c.2601C>T c.(2599-2601)ATC>ATT p.I867I NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 867 Triple-helical region 4 (COL4). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) CGGGTGCCATCCTGACAGAGG 0.502 5 10 --- --- --- --- PASS C9orf30 91283 broad.mit.edu 37 9 103213214 103213214 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:103213214C>T uc004baw.2 + 3 861 c.794C>T c.(793-795)TCC>TTC p.S265F TMEFF1_uc004bay.1_Intron|C9orf30_uc004bax.2_RNA NM_080655 NP_542386 Q96H12 CI030_HUMAN hypothetical protein LOC91283 265 ovary(1) 1 Acute lymphoblastic leukemia(62;0.0527) TGGCCTGTTTCCTCATTTAAC 0.418 18 10 --- --- --- --- PASS LPPR1 54886 broad.mit.edu 37 9 104048415 104048415 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:104048415C>T uc004bbb.2 + 4 681 c.282C>T c.(280-282)TTC>TTT p.F94F LPPR1_uc011lvi.1_Silent_p.F70F|LPPR1_uc004bbc.2_Silent_p.F94F|LPPR1_uc010mtc.2_Silent_p.F78F NM_207299 NP_997182 Q8TBJ4 LPPR1_HUMAN plasticity related gene 3 94 integral to membrane catalytic activity 0 CCATGTATTTCATAAAATCAA 0.373 23 19 --- --- --- --- PASS BAAT 570 broad.mit.edu 37 9 104124868 104124868 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:104124868G>A uc010mtd.2 - 4 1208 c.1099C>T c.(1099-1101)CCC>TCC p.P367S BAAT_uc004bbd.3_Missense_Mutation_p.P367S NM_001127610 NP_001121082 Q14032 BAAT_HUMAN bile acid Coenzyme A: amino acid 367 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity ovary(1)|lung(1)|skin(1) 3 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) GGAGAATAGGGAGGTTCTATC 0.542 13 14 --- --- --- --- PASS PPP3R2 5535 broad.mit.edu 37 9 104357047 104357047 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:104357047G>A uc004bbr.2 - 1 237 c.166C>T c.(166-168)CCG>TCG p.P56S GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron NM_147180 NP_671709 Q96LZ3 CANB2_HUMAN protein phosphatase 3 regulatory subunit B, beta 53 EF-hand 2. calcium ion binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) CGCACCAACGGGTTGTGGCGC 0.557 24 12 --- --- --- --- PASS OR13C8 138802 broad.mit.edu 37 9 107332164 107332164 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:107332164C>T uc011lvo.1 + 1 716 c.716C>T c.(715-717)TCC>TTC p.S239F NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, 239 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AAGGCCTTCTCCACCTGCTCA 0.408 15 27 --- --- --- --- PASS ABCA1 19 broad.mit.edu 37 9 107651464 107651464 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:107651464G>A uc004bcl.2 - 3 392 c.79C>T c.(79-81)CTG>TTG p.L27L ABCA1_uc004bcm.2_5'UTR NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 27 Helical; (Potential). Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GCCACTTCCAGCAGCAGCTGA 0.428 9 16 --- --- --- --- PASS PALM2-AKAP2 445815 broad.mit.edu 37 9 112705264 112705264 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:112705264G>A uc004bei.2 + 7 987 c.795G>A c.(793-795)AAG>AAA p.K265K PALM2_uc004bef.2_Silent_p.K267K|PALM2_uc004beg.2_Silent_p.K233K|PALM2_uc004beh.3_Silent_p.K265K|PALM2-AKAP2_uc004bek.3_Intron|PALM2-AKAP2_uc004bej.3_Intron|PALM2-AKAP2_uc004bel.1_Intron NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 GCCATCCCAAGGAACACATGC 0.512 11 21 --- --- --- --- PASS SVEP1 79987 broad.mit.edu 37 9 113170096 113170096 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:113170096G>A uc010mtz.2 - 38 8121 c.7784C>T c.(7783-7785)ACC>ATC p.T2595I SVEP1_uc010mty.2_Missense_Mutation_p.T521I NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 2595 Sushi 20. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 CTCTTCACAGGTCTGCATGGC 0.448 43 48 --- --- --- --- PASS SVEP1 79987 broad.mit.edu 37 9 113170641 113170641 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:113170641G>A uc010mtz.2 - 38 7576 c.7239C>T c.(7237-7239)TTC>TTT p.F2413F SVEP1_uc010mty.2_Silent_p.F339F NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 2413 Sushi 17. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 TTCCTCTTAGGAAAAACCCAC 0.478 20 27 --- --- --- --- PASS SVEP1 79987 broad.mit.edu 37 9 113251945 113251945 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:113251945G>A uc010mtz.2 - 9 2252 c.1915C>T c.(1915-1917)CAT>TAT p.H639Y SVEP1_uc010mua.1_Missense_Mutation_p.H639Y|SVEP1_uc004beu.2_Missense_Mutation_p.H639Y NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 639 HYR 1. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 ACCTTGATATGGAAAATGCAG 0.284 11 18 --- --- --- --- PASS LPAR1 1902 broad.mit.edu 37 9 113703745 113703745 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:113703745C>A uc004bfa.2 - 4 1004 c.749G>T c.(748-750)CGG>CTG p.R250L LPAR1_uc011lwm.1_Missense_Mutation_p.R251L|LPAR1_uc004bfb.2_Missense_Mutation_p.R250L|LPAR1_uc004bfc.2_Missense_Mutation_p.R250L|LPAR1_uc011lwn.1_Missense_Mutation_p.R232L|LPAR1_uc011lwo.1_Missense_Mutation_p.R251L|LPAR1_uc010mub.2_Missense_Mutation_p.R250L NM_057159 NP_476500 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 250 Cytoplasmic (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane ovary(2) 2 CATGGTATCCCGATTCCGCCG 0.443 4 67 --- --- --- --- PASS KIAA0368 23392 broad.mit.edu 37 9 114156585 114156585 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:114156585C>T uc004bfe.1 - 27 3311 c.3311G>A c.(3310-3312)GGA>GAA p.G1104E NM_001080398 NP_001073867 KIAA0368 protein 0 CACTTTGGCTCCTGGGGAAAA 0.373 6 7 --- --- --- --- PASS KIAA0368 23392 broad.mit.edu 37 9 114206714 114206714 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:114206714G>A uc004bfe.1 - 5 748 c.748C>T c.(748-750)CCA>TCA p.P250S KIAA0368_uc010muc.1_Missense_Mutation_p.P72S NM_001080398 NP_001073867 KIAA0368 protein 0 GTCTCTACTGGAAGTTGTATT 0.393 26 33 --- --- --- --- PASS ZNF483 158399 broad.mit.edu 37 9 114304051 114304051 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:114304051G>A uc004bff.2 + 6 1060 c.836G>A c.(835-837)GGA>GAA p.G279E ZNF483_uc004bfg.2_Intron NM_133464 NP_597721 Q8TF39 ZN483_HUMAN zinc finger protein 483 isoform a 279 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GGTAATCAGGGAAATTCAAAA 0.423 34 26 --- --- --- --- PASS ZNF483 158399 broad.mit.edu 37 9 114304335 114304335 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:114304335C>T uc004bff.2 + 6 1344 c.1120C>T c.(1120-1122)CTT>TTT p.L374F ZNF483_uc004bfg.2_Intron NM_133464 NP_597721 Q8TF39 ZN483_HUMAN zinc finger protein 483 isoform a 374 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 CTCTTCAGCTCTTACTGAACA 0.418 37 23 --- --- --- --- PASS COL27A1 85301 broad.mit.edu 37 9 117064382 117064382 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:117064382C>T uc011lxl.1 + 56 4866 c.4866C>T c.(4864-4866)ATC>ATT p.I1622I COL27A1_uc004bii.2_RNA NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 1622 cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 GGGGTCCTATCCAATTGGTAA 0.562 29 24 --- --- --- --- PASS PAPPA 5069 broad.mit.edu 37 9 118989746 118989746 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:118989746G>A uc004bjn.2 + 6 2529 c.2148G>A c.(2146-2148)GGG>GGA p.G716G PAPPA_uc011lxp.1_Silent_p.G411G|PAPPA_uc011lxq.1_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 716 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 GCCTGGAAGGGAGAATCCTGG 0.527 28 19 --- --- --- --- PASS PHF19 26147 broad.mit.edu 37 9 123624866 123624866 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:123624866C>A uc004bks.1 - 11 1383 c.1130G>T c.(1129-1131)GGT>GTT p.G377V PHF19_uc011lyf.1_Missense_Mutation_p.G168V|PHF19_uc004bkr.2_RNA NM_015651 NP_056466 Q5T6S3 PHF19_HUMAN PHD finger protein 19 isoform a 377 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|breast(1) 2 GAGCACTGACCCAGGCTTGCT 0.617 9 17 --- --- --- --- PASS PHF19 26147 broad.mit.edu 37 9 123624867 123624867 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:123624867C>T uc004bks.1 - 11 1382 c.1129G>A c.(1129-1131)GGT>AGT p.G377S PHF19_uc011lyf.1_Missense_Mutation_p.G168S|PHF19_uc004bkr.2_RNA NM_015651 NP_056466 Q5T6S3 PHF19_HUMAN PHD finger protein 19 isoform a 377 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|breast(1) 2 AGCACTGACCCAGGCTTGCTC 0.622 9 17 --- --- --- --- PASS PTGS1 5742 broad.mit.edu 37 9 125145854 125145854 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:125145854G>A uc004bmg.1 + 8 964 c.829G>A c.(829-831)GGC>AGC p.G277S PTGS1_uc011lys.1_Missense_Mutation_p.G252S|PTGS1_uc010mwb.1_Missense_Mutation_p.G168S|PTGS1_uc004bmf.1_Missense_Mutation_p.G277S|PTGS1_uc004bmh.1_Missense_Mutation_p.G168S|PTGS1_uc011lyt.1_Missense_Mutation_p.G168S NM_000962 NP_000953 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 isoform 1 277 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity ovary(1)|skin(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) CTACCCCCGAGGCATCCCGCC 0.632 9 12 --- --- --- --- PASS OR1Q1 158131 broad.mit.edu 37 9 125377828 125377828 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:125377828G>A uc011lyy.1 + 1 812 c.812G>A c.(811-813)GGT>GAT p.G271D NM_012364 NP_036496 Q15612 OR1Q1_HUMAN olfactory receptor, family 1, subfamily Q, 271 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GTGACCAAGGGTCGCATTATA 0.527 21 28 --- --- --- --- PASS OR1B1 347169 broad.mit.edu 37 9 125391009 125391009 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:125391009G>A uc011lyz.1 - 1 806 c.806C>T c.(805-807)CCC>CTC p.P269L NM_001004450 NP_001004450 Q8NGR6 OR1B1_HUMAN olfactory receptor, family 1, subfamily B, 269 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GTTCTGGAAGGGAGGCTGGAA 0.512 17 17 --- --- --- --- PASS PDCL 5082 broad.mit.edu 37 9 125585315 125585315 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:125585315G>A uc004bmz.1 - 3 430 c.334C>T c.(334-336)CAG>TAG p.Q112* PDCL_uc004bna.2_Nonsense_Mutation_p.Q112* NM_005388 NP_005379 Q13371 PHLP_HUMAN phosducin-like 112 signal transduction|visual perception 0 ATCTTCTCCTGGAGGTCTTTC 0.507 33 40 --- --- --- --- PASS PDCL 5082 broad.mit.edu 37 9 125585316 125585316 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:125585316G>A uc004bmz.1 - 3 429 c.333C>T c.(331-333)CTC>CTT p.L111L PDCL_uc004bna.2_Silent_p.L111L NM_005388 NP_005379 Q13371 PHLP_HUMAN phosducin-like 111 signal transduction|visual perception 0 TCTTCTCCTGGAGGTCTTTCT 0.502 34 40 --- --- --- --- PASS PPP6C 5537 broad.mit.edu 37 9 127912080 127912080 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:127912080G>A uc004bpg.3 - 7 1011 c.790C>T c.(790-792)CGT>TGT p.R264C PPP6C_uc010mwv.2_Missense_Mutation_p.R301C|PPP6C_uc010mww.2_Missense_Mutation_p.R242C|PPP6C_uc011lzr.1_Missense_Mutation_p.R117C NM_002721 NP_002712 O00743 PPP6_HUMAN protein phosphatase 6, catalytic subunit isoform 264 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity ovary(1)|skin(1) 2 TTTCCACAACGATAGCAGTAA 0.403 8 14 --- --- --- --- PASS SH2D3C 10044 broad.mit.edu 37 9 130507027 130507027 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:130507027C>T uc004bsc.2 - 7 1758 c.1616G>A c.(1615-1617)GGC>GAC p.G539D SH2D3C_uc010mxo.2_Missense_Mutation_p.G379D|SH2D3C_uc004bry.2_Missense_Mutation_p.G381D|SH2D3C_uc004brz.3_Missense_Mutation_p.G185D|SH2D3C_uc011mak.1_Missense_Mutation_p.G185D|SH2D3C_uc004bsa.2_Missense_Mutation_p.G382D|SH2D3C_uc004bsb.2_Missense_Mutation_p.G471D NM_170600 NP_733745 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C isoform a 539 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity ovary(1) 1 GAAGGTCTTGCCCCAGTCCCC 0.597 41 59 --- --- --- --- PASS FPGS 2356 broad.mit.edu 37 9 130569923 130569923 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:130569923G>A uc004bsg.1 + 8 750 c.700G>A c.(700-702)GAT>AAT p.D234N FPGS_uc004bsh.1_Missense_Mutation_p.D51N|FPGS_uc011mal.1_Missense_Mutation_p.D208N|FPGS_uc004bsi.1_Missense_Mutation_p.D184N NM_004957 NP_004948 Q05932 FOLC_HUMAN folylpolyglutamate synthase isoform a precursor 234 folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process cytosol|mitochondrial matrix ATP binding|tetrahydrofolylpolyglutamate synthase activity 0 L-Glutamic Acid(DB00142) CCTCCTGGGGGATACGGTGGA 0.458 4 7 --- --- --- --- PASS SLC27A4 10999 broad.mit.edu 37 9 131105494 131105494 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:131105494C>T uc004but.2 + 2 367 c.83C>T c.(82-84)TCC>TTC p.S28F SLC27A4_uc004buu.2_Silent_p.L55L NM_005094 NP_005085 Q6P1M0 S27A4_HUMAN solute carrier family 27 (fatty acid 28 Helical; (Potential). long-chain fatty acid transport|transmembrane transport integral to membrane fatty acid transporter activity|nucleotide binding|protein binding 0 GTGGGATTCTCCCTGTTGTTC 0.587 12 16 --- --- --- --- PASS ODF2 4957 broad.mit.edu 37 9 131221850 131221850 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:131221850C>T uc011mbd.1 + 3 348 c.37C>T c.(37-39)CCA>TCA p.P13S ODF2_uc011maz.1_Missense_Mutation_p.P13S|ODF2_uc011mba.1_5'UTR|ODF2_uc010myb.2_5'UTR|ODF2_uc011mbb.1_5'UTR|ODF2_uc011mbc.1_5'UTR|ODF2_uc004bva.2_5'UTR|ODF2_uc004bvb.2_5'UTR|ODF2_uc011mbe.1_5'UTR|ODF2_uc004bvc.2_5'UTR|ODF2_uc010myc.2_Missense_Mutation_p.P13S|ODF2_uc011mbf.1_Missense_Mutation_p.P13S|ODF2_uc004bvd.3_Missense_Mutation_p.P13S|ODF2_uc004bve.2_Missense_Mutation_p.P13S NM_002540 NP_002531 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 isoform 1 13 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity ovary(1) 1 GTGCAGGTTTCCATCGTGTGG 0.473 7 13 --- --- --- --- PASS PTGES 9536 broad.mit.edu 37 9 132510953 132510953 + Missense_Mutation SNP C G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:132510953C>G uc004byi.2 - 2 243 c.190G>C c.(190-192)GAC>CAC p.D64H PTGES_uc010myy.2_RNA|PTGES_uc004byj.2_Missense_Mutation_p.D64H NM_004878 NP_004869 O14684 PTGES_HUMAN prostaglandin E synthase 64 Helical. prostaglandin biosynthetic process|signal transduction integral to membrane|membrane fraction glutathione binding|prostaglandin-E synthase activity skin(1) 1 Ovarian(14;0.00556) CGTTCCACGTCGGGGTCGCTC 0.607 4 4 --- --- --- --- PASS PPAPDC3 84814 broad.mit.edu 37 9 134165636 134165636 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:134165636C>T uc004cal.2 + 1 556 c.252C>T c.(250-252)TCC>TCT p.S84S NM_032728 NP_116117 Q8NBV4 PPAC3_HUMAN phosphatidic acid phosphatase type 2 domain 84 interaction with MTOR (By similarity).|Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear envelope hydrolase activity breast(1) 1 all_hematologic(7;0.0119) OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173) CCTTCAACTCCCTGCTGGCCA 0.652 22 16 --- --- --- --- PASS PPAPDC3 84814 broad.mit.edu 37 9 134183309 134183309 + Splice_Site SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:134183309G>A uc004cal.2 + 2 756 c.452_splice c.e2-1 p.A151_splice NM_032728 NP_116117 Q8NBV4 PPAC3_HUMAN phosphatidic acid phosphatase type 2 domain endoplasmic reticulum membrane|integral to membrane|nuclear envelope hydrolase activity breast(1) 1 all_hematologic(7;0.0119) OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173) CCCCCCAACAGCCCTGCTCCT 0.537 8 3 --- --- --- --- PASS RAPGEF1 2889 broad.mit.edu 37 9 134501722 134501722 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:134501722G>T uc004cbc.2 - 10 1368 c.1238C>A c.(1237-1239)CCG>CAG p.P413Q RAPGEF1_uc004cbb.2_Missense_Mutation_p.P431Q|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Missense_Mutation_p.P418Q|RAPGEF1_uc004cbd.2_Missense_Mutation_p.P418Q NM_005312 NP_005303 Q13905 RPGF1_HUMAN guanine nucleotide-releasing factor 2 isoform a 413 activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding lung(3)|ovary(2)|breast(1)|skin(1) 7 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) CTCTGGCAACGGGCTAAGGTT 0.577 4 38 --- --- --- --- PASS CEL 1056 broad.mit.edu 37 9 135942042 135942042 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:135942042C>T uc010naa.1 + 5 689 c.673C>T c.(673-675)CTG>TTG p.L225L NM_001807 NP_001798 P19835 CEL_HUMAN carboxyl ester lipase precursor 222 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) CAGCGTCTCTCTGCAGGTCTC 0.642 23 22 --- --- --- --- PASS C9orf96 169436 broad.mit.edu 37 9 136270378 136270378 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:136270378G>A uc004cdk.2 + 18 1937 c.1876G>A c.(1876-1878)GAG>AAG p.E626K C9orf96_uc004cdl.2_RNA NM_153710 NP_714921 Q8NE28 SGK71_HUMAN hypothetical protein LOC169436 626 ATP binding|protein kinase activity stomach(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) ACCTGCAGAGGAGATCCTGCC 0.612 7 5 --- --- --- --- PASS SARDH 1757 broad.mit.edu 37 9 136561474 136561474 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:136561474C>T uc004cep.3 - 14 1812 c.1678G>A c.(1678-1680)GAG>AAG p.E560K SARDH_uc004ceo.2_Missense_Mutation_p.E560K|SARDH_uc011mdn.1_Missense_Mutation_p.E560K|SARDH_uc011mdo.1_Missense_Mutation_p.E392K|SARDH_uc004cen.2_5'UTR NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 560 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) GCCAGGCACTCCTTCTTGATC 0.587 15 13 --- --- --- --- PASS LHX3 8022 broad.mit.edu 37 9 139089197 139089197 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:139089197C>T uc004cha.2 - 6 1265 c.1168G>A c.(1168-1170)GAT>AAT p.D390N LHX3_uc004cgz.2_Missense_Mutation_p.D395N NM_178138 NP_835258 Q9UBR4 LHX3_HUMAN LIM homeobox protein 3 isoform a 390 inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) TCTACCTCATCCAGCCAGGAG 0.687 3 4 --- --- --- --- PASS SEC16A 9919 broad.mit.edu 37 9 139360519 139360519 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:139360519G>A uc004chx.2 - 8 4507 c.4198C>T c.(4198-4200)CAC>TAC p.H1400Y SEC16A_uc004chv.3_Missense_Mutation_p.H790Y|SEC16A_uc004chw.2_Missense_Mutation_p.H1400Y|SEC16A_uc010nbn.2_Missense_Mutation_p.H1400Y NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A 1222 Required for endoplasmic reticulum localization. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane 0 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) AAATCGCCGTGAAAGGAGCCT 0.562 13 10 --- --- --- --- PASS NDOR1 27158 broad.mit.edu 37 9 140109611 140109611 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:140109611C>T uc004clw.2 + 9 1241 c.1130C>T c.(1129-1131)CCC>CTC p.P377L NDOR1_uc004clx.2_Missense_Mutation_p.P377L|NDOR1_uc011mes.1_Missense_Mutation_p.P377L|NDOR1_uc004cly.2_Missense_Mutation_p.P343L NM_014434 NP_055249 Q9UHB4 NDOR1_HUMAN NADPH dependent diflavin oxidoreductase 1 377 FAD-binding FR-type. cell death cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) GACCTCATCCCCGTTATCCGG 0.667 4 9 --- --- --- --- PASS SLC34A3 142680 broad.mit.edu 37 9 140126166 140126166 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:140126166C>T uc004cmf.1 + 2 198 c.12C>T c.(10-12)TCC>TCT p.S4S SLC34A3_uc004cmc.1_5'UTR|SLC34A3_uc004cmd.1_Silent_p.S4S|SLC34A3_uc011met.1_Silent_p.S4S NM_080877 NP_543153 Q8N130 NPT2C_HUMAN solute carrier family 34 (sodium phosphate), 4 Cytoplasmic (Potential). cellular phosphate ion homeostasis apical plasma membrane|integral to membrane sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) TGCCGAGTTCCCTTCCCGGCA 0.647 27 14 --- --- --- --- PASS TUBAL3 79861 broad.mit.edu 37 10 5435743 5435743 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:5435743C>T uc001ihy.2 - 4 1118 c.1078G>A c.(1078-1080)GTG>ATG p.V360M TUBAL3_uc001ihz.2_Missense_Mutation_p.V320M NM_024803 NP_079079 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 360 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 TTGATGCCCACCTTGAAACCA 0.572 14 20 --- --- --- --- PASS TUBAL3 79861 broad.mit.edu 37 10 5435744 5435744 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:5435744C>T uc001ihy.2 - 4 1117 c.1077G>A c.(1075-1077)AAG>AAA p.K359K TUBAL3_uc001ihz.2_Silent_p.K319K NM_024803 NP_079079 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 359 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 TGATGCCCACCTTGAAACCAG 0.572 14 21 --- --- --- --- PASS TUBAL3 79861 broad.mit.edu 37 10 5435781 5435781 + Missense_Mutation SNP G A A rs148029829 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:5435781G>A uc001ihy.2 - 4 1080 c.1040C>T c.(1039-1041)TCT>TTT p.S347F TUBAL3_uc001ihz.2_Missense_Mutation_p.S307F NM_024803 NP_079079 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 347 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 AAACTGAACAGAGTGCCTCGA 0.577 10 36 --- --- --- --- PASS NET1 10276 broad.mit.edu 37 10 5498921 5498921 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:5498921C>T uc001iia.2 + 12 1893 c.1755C>T c.(1753-1755)GCC>GCT p.A585A NET1_uc010qar.1_Silent_p.A404A|NET1_uc001iib.2_Silent_p.A531A|NET1_uc010qas.1_Silent_p.A404A NM_001047160 NP_001040625 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming gene 1 isoform 585 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(1) 1 GGGACAAAGCCCTTTCTGGTG 0.483 8 39 --- --- --- --- PASS IL2RA 3559 broad.mit.edu 37 10 6063598 6063598 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:6063598G>A uc001iiz.1 - 4 585 c.426C>T c.(424-426)TTC>TTT p.F142F IL2RA_uc009xih.1_Intron|IL2RA_uc001ija.1_Intron NM_000417 NP_000408 P01589 IL2RA_HUMAN interleukin 2 receptor, alpha chain precursor 142 Sushi 2.|Extracellular (Potential). cell proliferation integral to membrane interleukin-2 receptor activity ovary(1)|skin(1) 2 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) GCCCCACCACGAAATGATAAA 0.512 16 41 --- --- --- --- PASS SFMBT2 57713 broad.mit.edu 37 10 7218107 7218107 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:7218107C>T uc009xio.1 - 17 1920 c.1829G>A c.(1828-1830)AGG>AAG p.R610K SFMBT2_uc001ijn.1_Missense_Mutation_p.R610K|SFMBT2_uc010qay.1_Missense_Mutation_p.R445K NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 610 regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 GACCACAGCCCTGTATGTTTT 0.473 16 47 --- --- --- --- PASS SFMBT2 57713 broad.mit.edu 37 10 7239571 7239571 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:7239571C>T uc009xio.1 - 15 1728 c.1637G>A c.(1636-1638)GGA>GAA p.G546E SFMBT2_uc001ijn.1_Missense_Mutation_p.G546E|SFMBT2_uc010qay.1_Intron NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 546 regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 TGCAATCCTTCCTTTGTTCAG 0.507 11 58 --- --- --- --- PASS KIN 22944 broad.mit.edu 37 10 7829789 7829789 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:7829789C>T uc001ijt.2 - 1 156 c.108G>A c.(106-108)CGG>CGA p.R36R KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Silent_p.R36R|KIN_uc010qba.1_5'UTR|ATP5C1_uc010qbb.1_5'Flank|ATP5C1_uc009xiq.1_5'Flank|ATP5C1_uc010qbc.1_5'Flank|ATP5C1_uc001iju.2_5'Flank|ATP5C1_uc001ijv.2_5'Flank NM_012311 NP_036443 O60870 KIN17_HUMAN HsKin17 protein 36 C2H2-type. DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix double-stranded DNA binding|RNA binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 TCACCTCGTCCCGGCACTGCT 0.642 17 60 --- --- --- --- PASS DHTKD1 55526 broad.mit.edu 37 10 12162808 12162808 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:12162808C>T uc001ild.3 + 17 2780 c.2681C>T c.(2680-2682)CCT>CTT p.P894L NM_018706 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain 894 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding ovary(1)|central_nervous_system(1) 2 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) GGCCGGCCCCCTTTGCCAGTA 0.478 7 26 --- --- --- --- PASS PHYH 5264 broad.mit.edu 37 10 13323110 13323110 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:13323110C>T uc001imf.2 - 8 917 c.829G>A c.(829-831)GCA>ACA p.A277T PHYH_uc001ime.2_Missense_Mutation_p.A177T|PHYH_uc001img.2_Missense_Mutation_p.A260T NM_006214 NP_006205 O14832 PAHX_HUMAN phytanoyl-CoA 2-hydroxylase isoform a precursor 277 fatty acid alpha-oxidation|nervous system development peroxisomal matrix electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding 0 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) CAGGAAATTGCCTGTGCAAAG 0.418 8 25 --- --- --- --- PASS PHYH 5264 broad.mit.edu 37 10 13323111 13323111 + Splice_Site SNP C G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:13323111C>G uc001imf.2 - 8 917 c.829_splice c.e8-1 p.A277_splice PHYH_uc001ime.2_Splice_Site_p.A177_splice|PHYH_uc001img.2_Splice_Site_p.A260_splice NM_006214 NP_006205 O14832 PAHX_HUMAN phytanoyl-CoA 2-hydroxylase isoform a precursor fatty acid alpha-oxidation|nervous system development peroxisomal matrix electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding 0 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) AGGAAATTGCCTGTGCAAAGT 0.418 8 24 --- --- --- --- PASS ITGA8 8516 broad.mit.edu 37 10 15614224 15614224 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:15614224G>A uc001ioc.1 - 25 2623 c.2623C>T c.(2623-2625)CCA>TCA p.P875S ITGA8_uc010qcb.1_Missense_Mutation_p.P860S NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 875 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 ATATCCTGTGGATTGATATTA 0.388 16 38 --- --- --- --- PASS RSU1 6251 broad.mit.edu 37 10 16796894 16796894 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:16796894G>A uc001iok.2 - 4 678 c.376C>T c.(376-378)CTT>TTT p.L126F RSU1_uc001iol.2_Missense_Mutation_p.L126F|RSU1_uc001iom.2_Missense_Mutation_p.L73F|RSU1_uc001ion.2_Missense_Mutation_p.L126F NM_152724 NP_689937 Q15404 RSU1_HUMAN ras suppressor protein 1 isoform 2 126 LRR 4. cell junction assembly|signal transduction cytosol protein binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(1;7.54e-08) TTTCCAGGAAGAGAATTTTCG 0.448 21 39 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 16867061 16867061 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:16867061G>A uc001ioo.2 - 67 10837 c.10785C>T c.(10783-10785)TTC>TTT p.F3595F NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3595 CUB 27. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGGAAGCCACGAAGGGAGCTA 0.378 6 18 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 16955826 16955826 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:16955826T>A uc001ioo.2 - 48 7569 c.7517A>T c.(7516-7518)AAC>ATC p.N2506I NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2506 CUB 18. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ATGCTCATTGTTGCAGGACGG 0.493 15 76 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 16957035 16957035 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:16957035C>T uc001ioo.2 - 47 7399 c.7347G>A c.(7345-7347)ATG>ATA p.M2449I NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2449 cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACTCACCTTCCATACTGGATT 0.274 6 15 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 16967273 16967273 + Missense_Mutation SNP C T T rs140883483 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:16967273C>T uc001ioo.2 - 43 6665 c.6613G>A c.(6613-6615)GGA>AGA p.G2205R NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2205 CUB 15. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ATTTTAAATCCTTGCCCTTCA 0.328 10 30 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 16967623 16967623 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:16967623G>A uc001ioo.2 - 42 6474 c.6422C>T c.(6421-6423)CCA>CTA p.P2141L NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2141 CUB 15. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ATCTCCATTTGGAATCTGGAA 0.443 24 33 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 17032459 17032459 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:17032459G>A uc001ioo.2 - 29 4276 c.4224C>T c.(4222-4224)CCC>CCT p.P1408P NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1408 CUB 9. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GATACCTGTTGGGGAACCCGG 0.522 9 27 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 17087150 17087150 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:17087150G>A uc001ioo.2 - 25 3580 c.3528C>T c.(3526-3528)TTC>TTT p.F1176F NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1176 CUB 7. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGGGAGATATGAACGTGCCGC 0.478 23 42 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 17088080 17088080 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:17088080C>T uc001ioo.2 - 24 3395 c.3343G>A c.(3343-3345)GAA>AAA p.E1115K NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1115 CUB 6. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGTGATTTTTCATAGCCTCCA 0.323 7 16 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 17113553 17113553 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:17113553G>A uc001ioo.2 - 19 2549 c.2497C>T c.(2497-2499)CCT>TCT p.P833S NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 833 CUB 4. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TACACGTTAGGAAAAAAAGGC 0.418 24 32 --- --- --- --- PASS VIM 7431 broad.mit.edu 37 10 17275769 17275769 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:17275769G>A uc001iou.2 + 5 1134 c.721G>A c.(721-723)GAA>AAA p.E241K VIM_uc001iov.1_Missense_Mutation_p.E241K|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.E241K|VIM_uc001ioy.1_Missense_Mutation_p.E241K|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.E241K|VIM_uc001ipc.1_Missense_Mutation_p.E241K NM_003380 NP_003371 P08670 VIME_HUMAN vimentin 241 Rod.|Coil 1B. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 CTTTTTGCAGGAAATCCAGGA 0.542 9 33 --- --- --- --- PASS ST8SIA6 338596 broad.mit.edu 37 10 17363050 17363050 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:17363050C>T uc001ipd.2 - 8 1024 c.1024G>A c.(1024-1026)GGA>AGA p.G342R ST8SIA6_uc010qce.1_RNA NM_001004470 NP_001004470 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide 342 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(1) 1 GGCCAGAATCCATACAGCTTC 0.438 24 81 --- --- --- --- PASS ST8SIA6 338596 broad.mit.edu 37 10 17363177 17363177 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:17363177G>A uc001ipd.2 - 8 897 c.897C>T c.(895-897)TTC>TTT p.F299F ST8SIA6_uc010qce.1_RNA NM_001004470 NP_001004470 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide 299 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(1) 1 ACTTGGGATGGAAAAATAGAA 0.463 40 132 --- --- --- --- PASS PTPLA 9200 broad.mit.edu 37 10 17641303 17641303 + Silent SNP G A A rs138699109 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:17641303G>A uc001ipg.2 - 5 626 c.591C>T c.(589-591)TTC>TTT p.F197F NM_014241 NP_055056 B0YJ81 HACD1_HUMAN protein tyrosine phosphatase-like, member A 197 Cytoplasmic (Potential). fatty acid biosynthetic process|multicellular organismal development|signal transduction endoplasmic reticulum membrane|integral to membrane lyase activity|protein tyrosine phosphatase activity central_nervous_system(1)|skin(1) 2 CCCATTTAATGAAGTATGGCA 0.443 21 22 --- --- --- --- PASS MRC1 4360 broad.mit.edu 37 10 17949609 17949609 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:17949609C>T uc001ipk.2 + 28 4076 c.3973C>T c.(3973-3975)CCC>TCC p.P1325S NM_002438 NP_002429 P22897 MRC1_HUMAN mannose receptor C type 1 precursor 1325 Extracellular (Potential).|C-type lectin 8. receptor-mediated endocytosis endosome membrane|integral to plasma membrane mannose binding|receptor activity 0 CACAGGAGATCCCTCTGGTGA 0.398 17 29 --- --- --- --- PASS NSUN6 221078 broad.mit.edu 37 10 18834989 18834989 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:18834989G>A uc010qcp.1 - 11 1701 c.1283C>T c.(1282-1284)GCT>GTT p.A428V NSUN6_uc001iqb.2_5'Flank NM_182543 NP_872349 Q8TEA1 NSUN6_HUMAN NOL1/NOP2/Sun domain family, member 6 428 methyltransferase activity|RNA binding ovary(2) 2 TAATGGCACAGCCGATGGATC 0.478 51 95 --- --- --- --- PASS THNSL1 79896 broad.mit.edu 37 10 25312772 25312772 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:25312772C>T uc001isi.3 + 3 949 c.620C>T c.(619-621)GCT>GTT p.A207V ENKUR_uc001ish.1_Intron NM_024838 NP_079114 Q8IYQ7 THNS1_HUMAN threonine synthase-like 1 207 threonine biosynthetic process ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity pancreas(1) 1 L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114) GAAAGTGGGGCTTCCCCAGAG 0.398 12 56 --- --- --- --- PASS GPR158 57512 broad.mit.edu 37 10 25887663 25887663 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:25887663G>A uc001isj.2 + 11 3168 c.3108G>A c.(3106-3108)ATG>ATA p.M1036I GPR158_uc001isk.2_Missense_Mutation_p.M411I NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 1036 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 CTTCTGAAATGGAGAAAAACC 0.463 10 46 --- --- --- --- PASS GPR158 57512 broad.mit.edu 37 10 25887664 25887664 + Missense_Mutation SNP G A A rs12412738 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:25887664G>A uc001isj.2 + 11 3169 c.3109G>A c.(3109-3111)GAG>AAG p.E1037K GPR158_uc001isk.2_Missense_Mutation_p.E412K NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 1037 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 TTCTGAAATGGAGAAAAACCC 0.463 11 48 --- --- --- --- PASS MYO3A 53904 broad.mit.edu 37 10 26414347 26414347 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:26414347C>T uc001isn.2 + 19 2284 c.1924C>T c.(1924-1926)CGG>TGG p.R642W MYO3A_uc009xko.1_Missense_Mutation_p.R642W|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 642 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 GCTTTGCATTCGGGCAGATGA 0.418 19 27 --- --- --- --- PASS MYO3A 53904 broad.mit.edu 37 10 26414396 26414396 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:26414396G>A uc001isn.2 + 19 2333 c.1973G>A c.(1972-1974)AGA>AAA p.R658K MYO3A_uc009xko.1_Missense_Mutation_p.R658K|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 658 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity p.R658G(1) ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 GTGGTCACTAGAGGAGAAACA 0.428 27 44 --- --- --- --- PASS APBB1IP 54518 broad.mit.edu 37 10 26781271 26781271 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:26781271G>A uc001iss.2 + 3 337 c.16G>A c.(16-18)GAA>AAA p.E6K APBB1IP_uc001isr.2_Missense_Mutation_p.E6K|APBB1IP_uc009xks.1_Missense_Mutation_p.E6K NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, 6 blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium lung(4)|skin(2)|central_nervous_system(1) 7 TGAGTCAAGTGAAGACATAGA 0.408 19 27 --- --- --- --- PASS APBB1IP 54518 broad.mit.edu 37 10 26800681 26800681 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:26800681C>T uc001iss.2 + 7 858 c.537C>T c.(535-537)GTC>GTT p.V179V APBB1IP_uc009xks.1_Silent_p.V179V NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, 179 Ras-associating. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium lung(4)|skin(2)|central_nervous_system(1) 7 CTCAGCTCGTCGTCAAGGTGC 0.458 16 35 --- --- --- --- PASS WAC 51322 broad.mit.edu 37 10 28878666 28878666 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:28878666C>T uc001iuf.2 + 5 468 c.383C>T c.(382-384)CCT>CTT p.P128L WAC_uc001iud.2_Missense_Mutation_p.P83L|WAC_uc001iue.2_Intron|WAC_uc009xlb.2_Missense_Mutation_p.P83L|WAC_uc001iug.2_Missense_Mutation_p.P128L|WAC_uc001iuh.2_Missense_Mutation_p.P83L NM_016628 NP_057712 Q9BTA9 WAC_HUMAN WW domain-containing adapter with a coiled-coil 128 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding large_intestine(1)|ovary(1) 2 ATTTTTAAGCCTTATGATTCT 0.308 13 40 --- --- --- --- PASS WAC 51322 broad.mit.edu 37 10 28905255 28905255 + Silent SNP C T T rs141367539 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:28905255C>T uc001iuf.2 + 12 1795 c.1710C>T c.(1708-1710)CAC>CAT p.H570H WAC_uc001iud.2_Silent_p.H525H|WAC_uc001iue.2_Silent_p.H260H|WAC_uc001iug.2_Silent_p.H467H|WAC_uc001iuh.2_Silent_p.H521H NM_016628 NP_057712 Q9BTA9 WAC_HUMAN WW domain-containing adapter with a coiled-coil 570 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding large_intestine(1)|ovary(1) 2 TCATAAAACACGTTCAAGGAT 0.413 9 34 --- --- --- --- PASS SVIL 6840 broad.mit.edu 37 10 29779793 29779793 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:29779793C>A uc001iut.1 - 22 4928 c.4175G>T c.(4174-4176)CGG>CTG p.R1392L SVIL_uc010qdw.1_Missense_Mutation_p.R306L|SVIL_uc001iuu.1_Missense_Mutation_p.R966L|SVIL_uc009xlc.2_Missense_Mutation_p.R184L NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 1392 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) TACTTTCATCCGCTTTGACTC 0.473 5 42 --- --- --- --- PASS KIAA1462 57608 broad.mit.edu 37 10 30315231 30315231 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:30315231C>T uc001iux.2 - 2 3905 c.3846G>A c.(3844-3846)CAG>CAA p.Q1282Q KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.Q1144Q|KIAA1462_uc009xle.1_Silent_p.Q1282Q NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 1282 ovary(4) 4 CGGCGTCCTCCTGGGAGTCGG 0.637 12 19 --- --- --- --- PASS KIAA1462 57608 broad.mit.edu 37 10 30317559 30317559 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:30317559C>T uc001iux.2 - 2 1577 c.1518G>A c.(1516-1518)GGG>GGA p.G506G KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.G368G|KIAA1462_uc009xle.1_Silent_p.G506G NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 506 ovary(4) 4 TTTCCCCATCCCCGGGGGGCT 0.642 21 38 --- --- --- --- PASS KIAA1462 57608 broad.mit.edu 37 10 30317560 30317560 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:30317560C>T uc001iux.2 - 2 1576 c.1517G>A c.(1516-1518)GGG>GAG p.G506E KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.G368E|KIAA1462_uc009xle.1_Missense_Mutation_p.G506E NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 506 ovary(4) 4 TTCCCCATCCCCGGGGGGCTG 0.642 21 38 --- --- --- --- PASS ZNF438 220929 broad.mit.edu 37 10 31137767 31137767 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:31137767G>A uc010qdz.1 - 7 2002 c.1567C>T c.(1567-1569)CGA>TGA p.R523* ZNF438_uc001ivn.2_Nonsense_Mutation_p.R474*|ZNF438_uc010qdy.1_Nonsense_Mutation_p.R513*|ZNF438_uc001ivo.3_Nonsense_Mutation_p.R87*|ZNF438_uc009xlg.2_Nonsense_Mutation_p.R523*|ZNF438_uc001ivp.3_Nonsense_Mutation_p.R513*|ZNF438_uc010qea.1_Nonsense_Mutation_p.R523*|ZNF438_uc010qeb.1_Nonsense_Mutation_p.R523*|ZNF438_uc010qec.1_Nonsense_Mutation_p.R87* NM_182755 NP_877432 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 isoform a 523 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 Prostate(175;0.0587) ATGTGGTCTCGAAGGTGCTGT 0.498 63 81 --- --- --- --- PASS ARHGAP12 94134 broad.mit.edu 37 10 32103268 32103268 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:32103268T>C uc001ivz.1 - 14 2023 c.1753A>G c.(1753-1755)ATT>GTT p.I585V ARHGAP12_uc001ivy.1_Missense_Mutation_p.I531V|ARHGAP12_uc009xls.2_Missense_Mutation_p.I536V|ARHGAP12_uc001iwb.1_Missense_Mutation_p.I578V|ARHGAP12_uc001iwc.1_Missense_Mutation_p.I553V|ARHGAP12_uc009xlq.1_Missense_Mutation_p.I506V|ARHGAP12_uc001iwd.1_Missense_Mutation_p.I553V|ARHGAP12_uc009xlr.1_Missense_Mutation_p.I583V NM_018287 NP_060757 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 585 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 Prostate(175;0.0199) TCCTCTTCAATTCCTTCATCA 0.363 48 60 --- --- --- --- PASS CCDC7 221016 broad.mit.edu 37 10 32856633 32856633 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:32856633C>T uc001iwj.2 + 16 1803 c.1233C>T c.(1231-1233)TTC>TTT p.F411F CCDC7_uc001iwk.2_Silent_p.F411F|CCDC7_uc009xlv.2_RNA|C10orf68_uc001iwl.1_5'UTR|C10orf68_uc001iwm.1_5'UTR|C10orf68_uc001iwn.3_5'Flank NM_145023 NP_659460 Q96M83 CCDC7_HUMAN coiled-coil domain containing 7 411 Potential. 0 Breast(68;0.000207)|Prostate(175;0.0107) TTAACTATTTCCTAAATCAAG 0.313 5 26 --- --- --- --- PASS NRP1 8829 broad.mit.edu 37 10 33559651 33559651 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:33559651C>T uc001iwx.3 - 3 905 c.382G>A c.(382-384)GAA>AAA p.E128K NRP1_uc001iwv.3_Missense_Mutation_p.E128K|NRP1_uc009xlz.2_Missense_Mutation_p.E128K|NRP1_uc001iww.3_Intron|NRP1_uc001iwy.3_Missense_Mutation_p.E128K|NRP1_uc001iwz.2_Missense_Mutation_p.E128K|NRP1_uc001ixa.2_Missense_Mutation_p.E128K|NRP1_uc001ixb.1_Missense_Mutation_p.E128K|NRP1_uc001ixc.1_Missense_Mutation_p.E128K NM_003873 NP_003864 O14786 NRP1_HUMAN neuropilin 1 isoform a 128 CUB 1.|Extracellular (Potential). axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 Palifermin(DB00039)|Pegaptanib(DB04895) CCATGTGTTTCGTAGTCAGAG 0.383 15 34 --- --- --- --- PASS PARD3 56288 broad.mit.edu 37 10 34759113 34759113 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:34759113G>A uc010qej.1 - 4 482 c.482C>T c.(481-483)TCC>TTC p.S161F PARD3_uc010qek.1_Missense_Mutation_p.S161F|PARD3_uc010qel.1_Missense_Mutation_p.S161F|PARD3_uc010qem.1_Missense_Mutation_p.S161F|PARD3_uc010qen.1_Missense_Mutation_p.S161F|PARD3_uc010qeo.1_Missense_Mutation_p.S161F|PARD3_uc010qep.1_Missense_Mutation_p.S161F|PARD3_uc010qeq.1_Missense_Mutation_p.S161F|PARD3_uc001ixp.1_Missense_Mutation_p.S26F|PARD3_uc001ixq.1_Missense_Mutation_p.S161F|PARD3_uc001ixr.1_Missense_Mutation_p.S161F|PARD3_uc001ixt.1_Missense_Mutation_p.S26F|PARD3_uc001ixu.1_Missense_Mutation_p.S161F NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 161 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) CTCTTCAGAGGAAAAATTACT 0.473 36 77 --- --- --- --- PASS FZD8 8325 broad.mit.edu 37 10 35930016 35930016 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:35930016G>A uc001iyz.1 - 1 347 c.342C>T c.(340-342)GCC>GCT p.A114A NM_031866 NP_114072 Q9H461 FZD8_HUMAN frizzled 8 precursor 114 FZ.|Extracellular (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding 0 AGCCGGCCTTGGCGCGCTCGC 0.682 3 3 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37418828 37418828 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:37418828C>T uc001iza.1 + 2 160 c.61C>T c.(61-63)CTA>TTA p.L21L NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 77 ANK 1. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 TAGGACTGCTCTACACTGGGC 0.453 7 25 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37436363 37436363 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:37436363G>A uc001iza.1 + 9 1452 c.1353G>A c.(1351-1353)ATG>ATA p.M451I NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 507 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 AAAAAGTAATGGAGATAAATA 0.289 8 14 --- --- --- --- PASS ZNF33B 7582 broad.mit.edu 37 10 43088170 43088170 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:43088170T>A uc001jaf.1 - 5 2343 c.2228A>T c.(2227-2229)CAT>CTT p.H743L ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.H631L|ZNF33B_uc001jad.2_Intron NM_006955 NP_008886 Q06732 ZN33B_HUMAN zinc finger protein 33B 743 C2H2-type 15. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TTCCCCTGTATGTGATCTCTG 0.393 43 55 --- --- --- --- PASS HNRNPF 3185 broad.mit.edu 37 10 43882454 43882454 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:43882454C>T uc009xmh.1 - 3 1366 c.879G>A c.(877-879)ATG>ATA p.M293I HNRNPF_uc001jar.2_Missense_Mutation_p.M293I|HNRNPF_uc001jas.2_Missense_Mutation_p.M293I|HNRNPF_uc001jat.2_Missense_Mutation_p.M293I|HNRNPF_uc001jav.2_Missense_Mutation_p.M293I|HNRNPF_uc001jau.2_Missense_Mutation_p.M293I|uc010qfa.1_Missense_Mutation_p.H46Y NM_001098208 NP_001091678 P52597 HNRPF_HUMAN heterogeneous nuclear ribonucleoprotein F 293 RRM 3. regulation of RNA splicing catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding 0 GCAGGCCCCTCATGTGGACAC 0.532 7 18 --- --- --- --- PASS MARCH8 220972 broad.mit.edu 37 10 45959739 45959739 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:45959739C>T uc001jci.1 - 4 429 c.190G>A c.(190-192)GTG>ATG p.V64M MARCH8_uc001jch.2_Missense_Mutation_p.V64M|MARCH8_uc001jcj.1_Missense_Mutation_p.V64M|MARCH8_uc001jck.1_Missense_Mutation_p.V64M|MARCH8_uc001jcg.1_5'Flank NM_001002266 NP_001002266 Q5T0T0 MARH8_HUMAN cellular modulator of immune recognition isoform 64 cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding 0 AAGGAGGACACCGGAGCCGGA 0.557 18 50 --- --- --- --- PASS PPYR1 5540 broad.mit.edu 37 10 47086879 47086879 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:47086879A>T uc001jee.2 + 3 515 c.96A>T c.(94-96)GAA>GAT p.E32D ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Missense_Mutation_p.E32D NM_005972 NP_005963 P50391 NPY4R_HUMAN pancreatic polypeptide receptor 1 32 Extracellular (Potential). blood circulation|digestion|feeding behavior integral to plasma membrane ovary(1)|skin(1) 2 ACTTCTCTGAACATTGCCAGG 0.527 10 111 --- --- --- --- PASS PPYR1 5540 broad.mit.edu 37 10 47087301 47087301 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:47087301C>T uc001jee.2 + 3 937 c.518C>T c.(517-519)CCC>CTC p.P173L ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Missense_Mutation_p.P173L NM_005972 NP_005963 P50391 NPY4R_HUMAN pancreatic polypeptide receptor 1 173 Helical; Name=4; (Potential). blood circulation|digestion|feeding behavior integral to plasma membrane ovary(1)|skin(1) 2 CTCTCCCTGCCCTTCCTGGCC 0.567 14 111 --- --- --- --- PASS PPYR1 5540 broad.mit.edu 37 10 47087788 47087788 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:47087788C>T uc001jee.2 + 3 1424 c.1005C>T c.(1003-1005)GCC>GCT p.A335A ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.A335A NM_005972 NP_005963 P50391 NPY4R_HUMAN pancreatic polypeptide receptor 1 335 Cytoplasmic (Potential). blood circulation|digestion|feeding behavior integral to plasma membrane ovary(1)|skin(1) 2 AGATCAAGGCCCTGGTGCTGA 0.552 14 92 --- --- --- --- PASS ZNF488 118738 broad.mit.edu 37 10 48371416 48371416 + Missense_Mutation SNP G A A rs77048726 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:48371416G>A uc001jex.2 + 2 1046 c.884G>A c.(883-885)CGA>CAA p.R295Q ZNF488_uc001jey.2_Missense_Mutation_p.R188Q NM_153034 NP_694579 Q96MN9 ZN488_HUMAN zinc finger protein 488 295 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TTTCACATGCGATCCCACCAC 0.602 13 58 --- --- --- --- PASS RBP3 5949 broad.mit.edu 37 10 48390628 48390628 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:48390628C>T uc001jez.2 - 1 364 c.250G>A c.(250-252)GAT>AAT p.D84N NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 84 4 X approximate tandem repeats.|1. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) AGGCGAGGATCGTTCAGGGAG 0.617 15 31 --- --- --- --- PASS GDF2 2658 broad.mit.edu 37 10 48414135 48414135 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:48414135G>A uc001jfa.1 - 2 896 c.733C>T c.(733-735)CCC>TCC p.P245S NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 245 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(2)|skin(1) 3 GAACCTGGGGGGACACTGATG 0.572 8 28 --- --- --- --- PASS FRMPD2 143162 broad.mit.edu 37 10 49392620 49392620 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:49392620G>A uc001jgi.2 - 20 2680 c.2573C>T c.(2572-2574)TCT>TTT p.S858F FRMPD2_uc001jgh.2_Missense_Mutation_p.S826F|FRMPD2_uc001jgj.2_Missense_Mutation_p.S836F NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 858 PDZ 1. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) TTTTGACTGAGAAATAATTAA 0.428 12 24 --- --- --- --- PASS C10orf72 196740 broad.mit.edu 37 10 50315891 50315891 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:50315891C>T uc001jhf.2 - 2 234 c.205G>A c.(205-207)GAC>AAC p.D69N C10orf72_uc001jhh.2_Missense_Mutation_p.D69N NM_001031746 NP_001026916 Q8IW00 CJ072_HUMAN hypothetical protein LOC196740 isoform 1 69 Ig-like.|Extracellular (Potential). integral to membrane|plasma membrane 0 TCCTGGGAGTCGAAGGAGTGT 0.607 13 18 --- --- --- --- PASS OGDHL 55753 broad.mit.edu 37 10 50954808 50954808 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:50954808G>A uc001jie.2 - 10 1426 c.1284C>T c.(1282-1284)GTC>GTT p.V428V OGDHL_uc009xog.2_Silent_p.V455V|OGDHL_uc010qgt.1_Silent_p.V371V|OGDHL_uc010qgu.1_Silent_p.V219V|OGDHL_uc009xoh.2_Silent_p.V219V NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 428 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 GGTTGTTGACGACGACGTGCA 0.587 11 21 --- --- --- --- PASS MBL2 4153 broad.mit.edu 37 10 54528129 54528129 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:54528129C>T uc001jjt.2 - 4 580 c.515G>A c.(514-516)GGA>GAA p.G172E NM_000242 NP_000233 P11226 MBL2_HUMAN soluble mannose-binding lectin precursor 172 C-type lectin. acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding ovary(1) 1 CTGAATGGCTCCATTCTCTGC 0.488 37 137 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55569161 55569161 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:55569161A>G uc010qhs.1 - 37 5059 c.4664T>C c.(4663-4665)TTT>TCT p.F1555S PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.F1548S|PCDH15_uc010qhu.1_3'UTR NM_001142769 NP_001136241 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD2-1 precursor Error:Variant_position_missing_in_Q96QU1_after_alignment 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) AACTTTCTTAAAAATCATGGG 0.413 HNSCC(58;0.16) 28 66 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 56423959 56423959 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:56423959C>T uc001jju.1 - 2 459 c.64G>A c.(64-66)GAA>AAA p.E22K PCDH15_uc010qhq.1_Missense_Mutation_p.E22K|PCDH15_uc010qhr.1_Missense_Mutation_p.E22K|PCDH15_uc010qhs.1_Missense_Mutation_p.E22K|PCDH15_uc010qht.1_Missense_Mutation_p.E22K|PCDH15_uc010qhu.1_Missense_Mutation_p.E22K|PCDH15_uc001jjv.1_Missense_Mutation_p.E22K|PCDH15_uc010qhv.1_Missense_Mutation_p.E22K|PCDH15_uc010qhw.1_Missense_Mutation_p.E22K|PCDH15_uc010qhx.1_Missense_Mutation_p.E22K|PCDH15_uc010qhy.1_Missense_Mutation_p.E22K|PCDH15_uc010qhz.1_Missense_Mutation_p.E22K|PCDH15_uc010qia.1_Missense_Mutation_p.E22K|PCDH15_uc010qib.1_Missense_Mutation_p.E22K|PCDH15_uc001jjw.2_Missense_Mutation_p.E22K NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 22 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) AAGCAGATTTCAAAGAGAGAG 0.393 HNSCC(58;0.16) 12 25 --- --- --- --- PASS ANK3 288 broad.mit.edu 37 10 61834736 61834736 + Missense_Mutation SNP A C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:61834736A>C uc001jky.2 - 37 6095 c.5903T>G c.(5902-5904)GTA>GGA p.V1968G ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 1968 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TTTATTATCTACACATACATC 0.373 10 28 --- --- --- --- PASS EGR2 1959 broad.mit.edu 37 10 64573279 64573279 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:64573279C>T uc010qim.1 - 3 1273 c.1119G>A c.(1117-1119)CGG>CGA p.R373R EGR2_uc010qin.1_Silent_p.R323R|EGR2_uc001jmi.2_Silent_p.R373R|EGR2_uc010qio.1_Silent_p.R386R|EGR2_uc009xph.2_Silent_p.R373R NM_001136177 NP_001129649 P11161 EGR2_HUMAN early growth response 2 protein isoform a 373 C2H2-type 2. fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) GCATGCAGATCCGACACTGGA 0.617 17 72 --- --- --- --- PASS EGR2 1959 broad.mit.edu 37 10 64573280 64573280 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:64573280C>T uc010qim.1 - 3 1272 c.1118G>A c.(1117-1119)CGG>CAG p.R373Q EGR2_uc010qin.1_Missense_Mutation_p.R323Q|EGR2_uc001jmi.2_Missense_Mutation_p.R373Q|EGR2_uc010qio.1_Missense_Mutation_p.R386Q|EGR2_uc009xph.2_Missense_Mutation_p.R373Q NM_001136177 NP_001129649 P11161 EGR2_HUMAN early growth response 2 protein isoform a 373 C2H2-type 2. fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) CATGCAGATCCGACACTGGAA 0.617 17 72 --- --- --- --- PASS EGR2 1959 broad.mit.edu 37 10 64573955 64573955 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:64573955G>A uc010qim.1 - 3 597 c.443C>T c.(442-444)CCC>CTC p.P148L EGR2_uc010qin.1_Missense_Mutation_p.P98L|EGR2_uc001jmi.2_Missense_Mutation_p.P148L|EGR2_uc010qio.1_Missense_Mutation_p.P161L|EGR2_uc009xph.2_Missense_Mutation_p.P148L NM_001136177 NP_001129649 P11161 EGR2_HUMAN early growth response 2 protein isoform a 148 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) CACACCCAGGGGTCCTGTGGC 0.617 7 28 --- --- --- --- PASS CTNNA3 29119 broad.mit.edu 37 10 68979601 68979601 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:68979601C>T uc009xpn.1 - 6 730 c.607G>A c.(607-609)GAA>AAA p.E203K CTNNA3_uc001jmw.2_Missense_Mutation_p.E203K|CTNNA3_uc001jmx.3_Missense_Mutation_p.E203K|CTNNA3_uc009xpo.1_Missense_Mutation_p.E63K|CTNNA3_uc001jna.2_Missense_Mutation_p.E215K NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 203 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 CCTGCAATTTCATCTCTCTGA 0.398 11 35 --- --- --- --- PASS DNAJC12 56521 broad.mit.edu 37 10 69583138 69583138 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:69583138G>A uc001jnb.2 - 2 259 c.91C>T c.(91-93)CTG>TTG p.L31L DNAJC12_uc001jnc.2_Silent_p.L31L NM_021800 NP_068572 Q9UKB3 DJC12_HUMAN J domain containing protein 1 isoform a 31 J. protein folding heat shock protein binding|unfolded protein binding breast(1) 1 AATTCTGCCAGGATTTGTTCA 0.274 15 33 --- --- --- --- PASS CCAR1 55749 broad.mit.edu 37 10 70507168 70507168 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:70507168C>T uc001joo.2 + 8 790 c.671C>T c.(670-672)CCT>CTT p.P224L CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Missense_Mutation_p.P29L|CCAR1_uc009xpx.1_Missense_Mutation_p.P198L|CCAR1_uc001jon.1_Missense_Mutation_p.P170L|CCAR1_uc010qiz.1_Missense_Mutation_p.P209L|CCAR1_uc010qja.1_Missense_Mutation_p.P209L|CCAR1_uc010qjb.1_RNA NM_018237 NP_060707 Q8IX12 CCAR1_HUMAN cell-cycle and apoptosis regulatory protein 1 224 apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding ovary(6)|large_intestine(1) 7 AAGACTCCTCCTGCTGTACTT 0.418 28 55 --- --- --- --- PASS VPS26A 9559 broad.mit.edu 37 10 70917876 70917876 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:70917876C>T uc001jpb.2 + 5 586 c.460C>T c.(460-462)CTT>TTT p.L154F VPS26A_uc001jpc.2_Missense_Mutation_p.L154F|VPS26A_uc009xqa.2_Missense_Mutation_p.L147F|VPS26A_uc001jpd.2_Missense_Mutation_p.L43F NM_004896 NP_004887 O75436 VP26A_HUMAN vacuolar protein sorting 26 A isoform 1 154 retrograde transport, endosome to Golgi|vacuolar transport cytosol|endosome membrane|retromer complex|vesicle protein binding|protein transporter activity 0 TGTTCACCAGCTTGCCACCTA 0.328 10 42 --- --- --- --- PASS H2AFY2 55506 broad.mit.edu 37 10 71860028 71860028 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:71860028C>T uc001jqm.2 + 7 1212 c.753C>T c.(751-753)TCC>TCT p.S251S H2AFY2_uc001jqn.2_RNA|AIFM2_uc010qjg.1_Intron NM_018649 NP_061119 Q9P0M6 H2AW_HUMAN H2A histone family, member Y2 251 Macro. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding skin(1) 1 TTCGCAAATCCCAAGGCCCTT 0.547 8 10 --- --- --- --- PASS AIFM2 84883 broad.mit.edu 37 10 71877624 71877624 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:71877624G>A uc010qjg.1 - 5 573 c.560C>T c.(559-561)TCC>TTC p.S187F AIFM2_uc001jqp.1_Missense_Mutation_p.S187F NM_032797 NP_116186 Q9BRQ8 AIFM2_HUMAN apoptosis-inducing factor (AIF)-like 187 apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis cytosol|integral to membrane|mitochondrial outer membrane DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding central_nervous_system(1) 1 CTGCCGGACGGAGGGCAGGAG 0.632 10 28 --- --- --- --- PASS PRF1 5551 broad.mit.edu 37 10 72358637 72358637 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:72358637C>T uc009xqg.2 - 3 1001 c.840G>A c.(838-840)GAG>GAA p.E280E PRF1_uc001jrf.3_Silent_p.E280E NM_001083116 NP_001076585 P14222 PERF_HUMAN perforin 1 precursor 280 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 TCTTCTTCTCCTCACAGGCCT 0.592 M various leukaemia|lymphoma Type 2 familial hemophagocytic lymphohistiocytosis Familial_Hemophagocytic_Lymphohistiocytosis 11 32 --- --- --- --- PASS CDH23 64072 broad.mit.edu 37 10 73567419 73567419 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:73567419C>T uc001jrx.3 + 57 8832 c.8455C>T c.(8455-8457)CCA>TCA p.P2819S CDH23_uc001jsg.3_Missense_Mutation_p.P579S|CDH23_uc001jsh.3_Missense_Mutation_p.P579S|CDH23_uc001jsi.3_Missense_Mutation_p.P579S NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 2819 Cadherin 26.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 TGGACCCTCCCCAACCCTCGA 0.622 9 18 --- --- --- --- PASS CCDC109A 90550 broad.mit.edu 37 10 74628517 74628517 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:74628517C>A uc001jtc.2 + 5 574 c.553C>A c.(553-555)CAA>AAA p.Q185K CCDC109A_uc009xqp.1_RNA|CCDC109A_uc009xqq.1_RNA|CCDC109A_uc010qjy.1_RNA|CCDC109A_uc009xqr.2_Intron|CCDC109A_uc001jtd.2_Missense_Mutation_p.Q136K NM_138357 NP_612366 Q8NE86 MCU_HUMAN coiled-coil domain containing 109A 185 Mitochondrial matrix (Potential). elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization integral to membrane|mitochondrial inner membrane protein binding 0 Prostate(51;0.0198) ATTGGTCCAGCAACTATACAC 0.403 4 69 --- --- --- --- PASS CCDC109A 90550 broad.mit.edu 37 10 74631134 74631134 + Splice_Site SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:74631134G>A uc001jtc.2 + 6 679 c.658_splice c.e6-1 p.V220_splice CCDC109A_uc009xqp.1_Splice_Site|CCDC109A_uc009xqq.1_Splice_Site|CCDC109A_uc010qjy.1_Splice_Site|CCDC109A_uc009xqr.2_Splice_Site_p.V199_splice|CCDC109A_uc001jtd.2_Splice_Site_p.V171_splice NM_138357 NP_612366 Q8NE86 MCU_HUMAN coiled-coil domain containing 109A elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization integral to membrane|mitochondrial inner membrane protein binding 0 Prostate(51;0.0198) GTGCCCAATAGGTACGAATTG 0.433 40 145 --- --- --- --- PASS P4HA1 5033 broad.mit.edu 37 10 74790090 74790090 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:74790090C>T uc010qka.1 - 11 1521 c.1187G>A c.(1186-1188)CGA>CAA p.R396Q P4HA1_uc001jtg.2_Missense_Mutation_p.R396Q|P4HA1_uc001jth.2_Missense_Mutation_p.R396Q|P4HA1_uc010qkb.1_Missense_Mutation_p.R396Q|P4HA1_uc001jti.2_RNA NM_001142595 NP_001136067 P13674 P4HA1_HUMAN prolyl 4-hydroxylase, alpha I subunit isoform 2 396 endoplasmic reticulum lumen|mitochondrion iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity ovary(1) 1 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) CATATTAATTCGAGACACCAC 0.353 9 18 --- --- --- --- PASS ANXA7 310 broad.mit.edu 37 10 75157985 75157985 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:75157985G>A uc001jtz.2 - 3 286 c.213C>T c.(211-213)GGC>GGT p.G71G ANXA7_uc001jua.2_Silent_p.G71G|ANXA7_uc001jub.2_Silent_p.G31G|ANXA7_uc010qki.1_Silent_p.G31G|ANXA7_uc009xre.2_Intron|ANXA7_uc009xrf.1_Splice_Site_p.G71_splice NM_004034 NP_004025 P20073 ANXA7_HUMAN annexin VII isoform 2 71 Repeat-rich region. calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding ovary(2)|central_nervous_system(1) 3 Prostate(51;0.0119) CACCAGGATAGCCTCCAGGGG 0.577 4 19 --- --- --- --- PASS PPP3CB 5532 broad.mit.edu 37 10 75239120 75239120 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:75239120G>A uc001jue.2 - 2 376 c.241C>T c.(241-243)CTT>TTT p.L81F PPP3CB_uc001juf.2_Missense_Mutation_p.L81F|PPP3CB_uc001jug.2_Missense_Mutation_p.L81F|PPP3CB_uc001jui.2_Missense_Mutation_p.L81F|PPP3CB_uc001juh.2_5'UTR NM_021132 NP_066955 P16298 PP2BB_HUMAN protein phosphatase 3, catalytic subunit, beta 81 Catalytic. skin(1) 1 Prostate(51;0.0119) TCTCTCCGAAGGATGGCAGCA 0.393 31 94 --- --- --- --- PASS KIAA0913 23053 broad.mit.edu 37 10 75557002 75557002 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:75557002C>T uc009xrl.2 + 17 3423 c.3391C>T c.(3391-3393)CCA>TCA p.P1131S KIAA0913_uc001jve.2_Missense_Mutation_p.P1136S|KIAA0913_uc001jvf.2_Missense_Mutation_p.P1131S|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.P566S|KIAA0913_uc010qkr.1_Missense_Mutation_p.P554S|KIAA0913_uc001jvj.2_Missense_Mutation_p.P554S|KIAA0913_uc009xrn.1_5'Flank NM_015037 NP_055852 A7E2V4 K0913_HUMAN hypothetical protein LOC23053 1131 zinc ion binding breast(1) 1 Prostate(51;0.0112) ATGGGGGTCCCCAGGACGGCC 0.557 10 13 --- --- --- --- PASS KIAA0913 23053 broad.mit.edu 37 10 75557617 75557617 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:75557617C>T uc009xrl.2 + 19 3758 c.3726C>T c.(3724-3726)TTC>TTT p.F1242F KIAA0913_uc001jve.2_Silent_p.F1247F|KIAA0913_uc001jvf.2_Silent_p.F1242F|KIAA0913_uc001jvh.2_Intron|KIAA0913_uc001jvi.2_Silent_p.F677F|KIAA0913_uc010qkr.1_Silent_p.F665F|KIAA0913_uc001jvj.2_Silent_p.F665F|KIAA0913_uc009xrn.1_5'Flank NM_015037 NP_055852 A7E2V4 K0913_HUMAN hypothetical protein LOC23053 1242 zinc ion binding breast(1) 1 Prostate(51;0.0112) ACTTCTACTTCGAGCTGGCGA 0.597 16 32 --- --- --- --- PASS MYST4 23522 broad.mit.edu 37 10 76781946 76781946 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:76781946C>T uc001jwn.1 + 16 3822 c.3329C>T c.(3328-3330)CCC>CTC p.P1110L MYST4_uc001jwm.1_Missense_Mutation_p.P818L|MYST4_uc001jwo.1_Missense_Mutation_p.P818L|MYST4_uc001jwp.1_Missense_Mutation_p.P927L NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic 1110 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) CAAAGCTCTCCCCCAAGATTG 0.224 T CREBBP AML OREG0020273 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 40 --- --- --- --- PASS DLG5 9231 broad.mit.edu 37 10 79566528 79566528 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:79566528G>A uc001jzk.2 - 26 5025 c.4955C>T c.(4954-4956)CCC>CTC p.P1652L DLG5_uc001jzi.2_Missense_Mutation_p.P407L|DLG5_uc001jzj.2_Missense_Mutation_p.P1067L|DLG5_uc009xru.1_RNA NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 1652 SH3. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) ATATTTGCTGGGAATCTGCCC 0.642 19 44 --- --- --- --- PASS POLR3A 11128 broad.mit.edu 37 10 79745903 79745903 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:79745903G>A uc001jzn.2 - 22 3010 c.2916C>T c.(2914-2916)TTC>TTT p.F972F NM_007055 NP_008986 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide 972 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding 0 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) CCCCCTTAATGAATTTTTTTA 0.358 13 27 --- --- --- --- PASS MAT1A 4143 broad.mit.edu 37 10 82040000 82040000 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:82040000G>A uc001kbw.2 - 5 733 c.478C>T c.(478-480)CTC>TTC p.L160F NM_000429 NP_000420 Q00266 METK1_HUMAN methionine adenosyltransferase I, alpha 160 methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity 0 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) CGGGCGTTGAGCTTGTGAGCA 0.622 23 37 --- --- --- --- PASS CDHR1 92211 broad.mit.edu 37 10 85968083 85968083 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:85968083C>T uc001kcv.2 + 11 1117 c.1117C>T c.(1117-1119)CAG>TAG p.Q373* CDHR1_uc001kcw.2_Nonsense_Mutation_p.Q373*|CDHR1_uc009xst.2_Nonsense_Mutation_p.Q132* NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN protocadherin 21 precursor 373 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion calcium ion binding|receptor activity ovary(1) 1 GCACCCACCCCAGGGAGAGAT 0.567 12 21 --- --- --- --- PASS LRIT1 26103 broad.mit.edu 37 10 85991971 85991971 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:85991971G>A uc001kcz.1 - 4 1606 c.1584C>T c.(1582-1584)ATC>ATT p.I528I NM_015613 NP_056428 Q9P2V4 LRIT1_HUMAN retina specific protein PAL 528 Helical; (Potential). integral to endoplasmic reticulum membrane 0 CCACCACATTGATAAGCTGCT 0.547 6 18 --- --- --- --- PASS RGR 5995 broad.mit.edu 37 10 86012761 86012761 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:86012761G>A uc001kdc.1 + 4 545 c.507G>A c.(505-507)GGG>GGA p.G169G RGR_uc001kdd.1_Silent_p.G173G|RGR_uc001kde.1_Silent_p.G169G NM_001012720 NP_001012738 P47804 RGR_HUMAN retinal G-protein coupled receptor isoform 2 169 Extracellular (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding ovary(1) 1 ACTCCAAGGGGGACAGGTGAG 0.577 6 25 --- --- --- --- PASS FAM190B 54462 broad.mit.edu 37 10 86198290 86198290 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:86198290C>T uc001kdh.1 + 6 2085 c.1891C>T c.(1891-1893)CCT>TCT p.P631S FAM190B_uc010qmd.1_Missense_Mutation_p.P631S|FAM190B_uc001kdi.1_Intron|FAM190B_uc010qme.1_Missense_Mutation_p.P58S NM_018999 NP_061872 Q9H7U1 F190B_HUMAN granule cell antiserum positive 14 631 ovary(3)|skin(1) 4 TAGAGAATCTCCTTTGGGTCA 0.393 36 45 --- --- --- --- PASS GRID1 2894 broad.mit.edu 37 10 87373363 87373363 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:87373363T>C uc001kdl.1 - 15 2503 c.2402A>G c.(2401-2403)AAG>AGG p.K801R GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.K372R NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 801 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) CCACTTCTGCTTCAGCACATC 0.617 Multiple Myeloma(13;0.14) 23 21 --- --- --- --- PASS GRID1 2894 broad.mit.edu 37 10 87628904 87628904 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:87628904G>A uc001kdl.1 - 6 915 c.814C>T c.(814-816)CAT>TAT p.H272Y GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 272 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) AGGGCACTATGGACCAGATCC 0.507 Multiple Myeloma(13;0.14) 28 44 --- --- --- --- PASS GRID1 2894 broad.mit.edu 37 10 87628913 87628913 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:87628913C>T uc001kdl.1 - 6 906 c.805G>A c.(805-807)GAT>AAT p.D269N GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 269 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) TGGACCAGATCCAGGATCTCC 0.498 Multiple Myeloma(13;0.14) 19 52 --- --- --- --- PASS GRID1 2894 broad.mit.edu 37 10 88123702 88123702 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:88123702C>T uc001kdl.1 - 2 332 c.231G>A c.(229-231)CAG>CAA p.Q77Q GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 77 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) ACTCACCTTCCTGCACAGCCT 0.637 Multiple Myeloma(13;0.14) 17 37 --- --- --- --- PASS LDB3 11155 broad.mit.edu 37 10 88441531 88441531 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:88441531G>A uc001kdv.2 + 4 683 c.660G>A c.(658-660)GGG>GGA p.G220G LDB3_uc010qml.1_Silent_p.G220G|LDB3_uc010qmm.1_Silent_p.G220G|LDB3_uc001kdu.2_Intron|LDB3_uc009xsz.2_Intron|LDB3_uc001kdr.2_Intron|LDB3_uc009xsy.2_Silent_p.G220G|LDB3_uc001kds.2_Silent_p.G220G|LDB3_uc001kdt.2_RNA NM_007078 NP_009009 O75112 LDB3_HUMAN LIM domain binding 3 isoform 1 220 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding ovary(1) 1 GCCTCCGAGGGAAGGCCTCGG 0.627 25 36 --- --- --- --- PASS ATAD1 84896 broad.mit.edu 37 10 89516631 89516631 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:89516631A>G uc001key.1 - 8 1163 c.880T>C c.(880-882)TTT>CTT p.F294L ATAD1_uc010qmr.1_Missense_Mutation_p.F206L|ATAD1_uc009xth.1_RNA|ATAD1_uc001kez.1_Missense_Mutation_p.F294L NM_032810 NP_116199 Q8NBU5 ATAD1_HUMAN ATPase family, AAA domain containing 1 294 peroxisome ATP binding|nucleoside-triphosphatase activity large_intestine(1)|ovary(1) 2 all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224) UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235) CTTCCTGAAAACCCATCAGTT 0.348 14 42 --- --- --- --- PASS LIPJ 142910 broad.mit.edu 37 10 90356157 90356157 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:90356157G>A uc001kff.2 + 7 874 c.560G>A c.(559-561)TGG>TAG p.W187* NM_001010939 NP_001010939 Q5W064 LIPJ_HUMAN lipase, family member J 187 lipid catabolic process hydrolase activity ovary(1) 1 all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222) Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05) ACATACAAATGGAAGTCAATA 0.284 8 19 --- --- --- --- PASS FAS 355 broad.mit.edu 37 10 90762814 90762814 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:90762814C>T uc001kfr.2 + 2 405 c.59C>T c.(58-60)TCC>TTC p.S20F FAS_uc010qna.1_RNA|FAS_uc001kfs.2_Missense_Mutation_p.S20F|FAS_uc001kft.2_Missense_Mutation_p.S20F|FAS_uc010qnb.1_RNA|FAS_uc010qnc.1_RNA|FAS_uc001kfw.2_Missense_Mutation_p.S20F|FAS_uc010qnd.1_RNA|FAS_uc010qne.1_RNA|FAS_uc009xtp.2_RNA NM_000043 NP_000034 P25445 TNR6_HUMAN tumor necrosis factor receptor superfamily, 20 activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death cytosol|extracellular region|integral to membrane|soluble fraction identical protein binding|kinase binding upper_aerodigestive_tract(1)|breast(1) 2 Colorectal(252;0.0161) Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193) AGATTATCGTCCAAAAGTGTT 0.393 Autoimmune_Lymphoproliferative_syndrome_type_I 22 38 --- --- --- --- PASS PPP1R3C 5507 broad.mit.edu 37 10 93389948 93389948 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:93389948C>T uc001kho.2 - 2 822 c.690G>A c.(688-690)CAG>CAA p.Q230Q NM_005398 NP_005389 Q9UQK1 PPR3C_HUMAN protein phosphatase 1, regulatory (inhibitor) 230 Interaction with EPM2A.|CBM21. protein serine/threonine phosphatase activity breast(1) 1 Colorectal(252;0.235) ACTCAATTTTCTGCTCAGTTG 0.403 25 36 --- --- --- --- PASS PLCE1 51196 broad.mit.edu 37 10 96006327 96006327 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:96006327C>T uc001kjk.2 + 8 3679 c.3045C>T c.(3043-3045)TTC>TTT p.F1015F PLCE1_uc010qnx.1_Silent_p.F1015F|PLCE1_uc001kjm.2_Silent_p.F707F NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 1015 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) TGAGGAAATTCCCTGACCAAA 0.438 4 36 --- --- --- --- PASS PLCE1 51196 broad.mit.edu 37 10 96084289 96084289 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:96084289G>A uc001kjk.2 + 31 7319 c.6685G>A c.(6685-6687)GGA>AGA p.G2229R PLCE1_uc010qnx.1_Missense_Mutation_p.G2213R|PLCE1_uc001kjm.2_Missense_Mutation_p.G1921R|PLCE1_uc001kjp.2_Missense_Mutation_p.G587R NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 2229 Ras-associating 2. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) GAAAGGTGCAGGAAAATTCAT 0.428 59 72 --- --- --- --- PASS PLCE1 51196 broad.mit.edu 37 10 96084290 96084290 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:96084290G>A uc001kjk.2 + 31 7320 c.6686G>A c.(6685-6687)GGA>GAA p.G2229E PLCE1_uc010qnx.1_Missense_Mutation_p.G2213E|PLCE1_uc001kjm.2_Missense_Mutation_p.G1921E|PLCE1_uc001kjp.2_Missense_Mutation_p.G587E NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 2229 Ras-associating 2. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) AAAGGTGCAGGAAAATTCATC 0.433 56 70 --- --- --- --- PASS CYP2C19 1557 broad.mit.edu 37 10 96522510 96522510 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:96522510C>T uc010qnz.1 + 1 48 c.48C>T c.(46-48)CTC>CTT p.L16L CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Intron NM_000769 NP_000760 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, 16 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity ovary(4)|central_nervous_system(1)|skin(1) 6 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) GTTTGCTTCTCCTTTCAATCT 0.463 34 105 --- --- --- --- PASS CYP2C19 1557 broad.mit.edu 37 10 96541623 96541623 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:96541623C>T uc010qnz.1 + 5 688 c.688C>T c.(688-690)CAT>TAT p.H230Y CYP2C19_uc009xus.1_Missense_Mutation_p.H95Y|CYP2C19_uc010qny.1_Missense_Mutation_p.H208Y NM_000769 NP_000760 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, 230 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity ovary(4)|central_nervous_system(1)|skin(1) 6 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) CCCGGGAACCCATAACAAATT 0.303 12 30 --- --- --- --- PASS CYP2C19 1557 broad.mit.edu 37 10 96541692 96541692 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:96541692G>A uc010qnz.1 + 5 757 c.757G>A c.(757-759)GAA>AAA p.E253K CYP2C19_uc009xus.1_Missense_Mutation_p.E118K|CYP2C19_uc010qny.1_Missense_Mutation_p.E231K NM_000769 NP_000760 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, 253 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity ovary(4)|central_nervous_system(1)|skin(1) 6 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) AGAACACCAAGAATCGATGGA 0.358 23 47 --- --- --- --- PASS SORBS1 10580 broad.mit.edu 37 10 97194428 97194428 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:97194428G>A uc001kkp.2 - 3 168 c.123C>T c.(121-123)ATC>ATT p.I41I SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Silent_p.I29I|SORBS1_uc001kko.2_Silent_p.I41I|SORBS1_uc001kkq.2_Silent_p.I41I|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Silent_p.I41I|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Silent_p.I41I|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Intron|SORBS1_uc001kkx.1_Intron NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 isoform 3 41 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity breast(1) 1 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) TCACAGGAATGATTTTAACAG 0.463 14 51 --- --- --- --- PASS ZNF518A 9849 broad.mit.edu 37 10 97918954 97918954 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:97918954C>T uc001klp.2 + 6 3732 c.2875C>T c.(2875-2877)CCA>TCA p.P959S ZNF518A_uc001klo.1_Missense_Mutation_p.P429S|ZNF518A_uc001klq.2_Missense_Mutation_p.P959S|ZNF518A_uc001klr.2_Missense_Mutation_p.P959S NM_014803 NP_055618 Q6AHZ1 Z518A_HUMAN zinc finger protein 518 959 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) AAATGCACTTCCATTGGTTAA 0.358 25 74 --- --- --- --- PASS TM9SF3 56889 broad.mit.edu 37 10 98303964 98303964 + Splice_Site SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:98303964C>T uc001kmm.3 - 9 1272 c.1055_splice c.e9-1 p.G352_splice TM9SF3_uc010qot.1_Splice_Site_p.G352_splice|TM9SF3_uc001kmn.1_Intron NM_020123 NP_064508 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 precursor integral to membrane binding 0 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) CATCTCCTTCCTGAAAAGAAA 0.299 7 18 --- --- --- --- PASS C10orf12 26148 broad.mit.edu 37 10 98742645 98742645 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:98742645C>T uc001kmv.2 + 1 1605 c.1498C>T c.(1498-1500)CCT>TCT p.P500S NM_015652 NP_056467 Q8N655 CJ012_HUMAN hypothetical protein LOC26148 500 skin(2) 2 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) TAAAAAATTCCCTGAGGCCTC 0.418 35 65 --- --- --- --- PASS SLIT1 6585 broad.mit.edu 37 10 98766300 98766300 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:98766300C>T uc001kmw.2 - 32 3771 c.3519G>A c.(3517-3519)CGG>CGA p.R1173R NM_003061 NP_003052 O75093 SLIT1_HUMAN slit homolog 1 precursor 1173 Laminin G-like. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding ovary(4) 4 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GGTAAGTGTCCCGATCCACAA 0.597 11 11 --- --- --- --- PASS SLIT1 6585 broad.mit.edu 37 10 98766422 98766422 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:98766422C>T uc001kmw.2 - 32 3649 c.3397G>A c.(3397-3399)GGG>AGG p.G1133R NM_003061 NP_003052 O75093 SLIT1_HUMAN slit homolog 1 precursor 1133 EGF-like 6. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding ovary(4) 4 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CACTCAGTCCCCTCACAGGGG 0.607 12 9 --- --- --- --- PASS MORN4 118812 broad.mit.edu 37 10 99376965 99376965 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:99376965C>T uc001kob.3 - 3 453 c.182G>A c.(181-183)AGG>AAG p.R61K PI4K2A_uc010qoy.1_Intron|MORN4_uc001koc.3_Missense_Mutation_p.R119K|MORN4_uc001kod.3_3'UTR|MORN4_uc001koe.2_Missense_Mutation_p.R61K|uc001kof.1_5'Flank NM_178832 NP_849154 Q8NDC4 MORN4_HUMAN MORN repeat containing 4 61 MORN 2. 0 TCATACCCACCTTGAACCATC 0.448 37 65 --- --- --- --- PASS DNMBP 23268 broad.mit.edu 37 10 101643884 101643884 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:101643884C>T uc001kqj.2 - 15 3973 c.3881G>A c.(3880-3882)CGG>CAG p.R1294Q DNMBP_uc010qpl.1_Missense_Mutation_p.R230Q|DNMBP_uc001kqg.2_Missense_Mutation_p.R582Q|DNMBP_uc001kqh.2_Missense_Mutation_p.R926Q NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN dynamin binding protein 1294 SH3 5. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity ovary(5)|skin(1) 6 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) ATTGAAGTTCCGTTCTGCCTG 0.512 14 26 --- --- --- --- PASS FAM178A 55719 broad.mit.edu 37 10 102683984 102683984 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:102683984C>T uc001krt.3 + 5 1768 c.1226C>T c.(1225-1227)CCT>CTT p.P409L FAM178A_uc001krr.1_Missense_Mutation_p.P409L|FAM178A_uc001krs.2_Missense_Mutation_p.P409L|FAM178A_uc001kru.1_Missense_Mutation_p.P344L NM_018121 NP_060591 Q8IX21 F178A_HUMAN hypothetical protein LOC55719 isoform 1 409 0 GGCTTGGCACCTTCAAATTCT 0.463 27 124 --- --- --- --- PASS DPCD 25911 broad.mit.edu 37 10 103360569 103360569 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:103360569C>T uc001ktn.2 + 3 225 c.220C>T c.(220-222)CTA>TTA p.L74L hsa-mir-3158-1|MI0014186_5'Flank NM_015448 NP_056263 Q9BVM2 DPCD_HUMAN DPCD protein 74 protein binding skin(1) 1 CCCAGCGCCCCTAGGAGCAGG 0.567 9 29 --- --- --- --- PASS GBF1 8729 broad.mit.edu 37 10 104141932 104141932 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:104141932C>T uc001kux.1 + 40 5659 c.5419C>T c.(5419-5421)CCA>TCA p.P1807S GBF1_uc001kuy.1_Missense_Mutation_p.P1803S|GBF1_uc001kuz.1_Missense_Mutation_p.P1804S NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 1807 Pro-rich. COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) GGCTCAGCCCCCACTGATCCT 0.692 15 21 --- --- --- --- PASS INA 9118 broad.mit.edu 37 10 105046812 105046812 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:105046812G>A uc001kws.2 + 2 1135 c.1086G>A c.(1084-1086)GAG>GAA p.E362E NM_032727 NP_116116 Q16352 AINX_HUMAN internexin neuronal intermediate filament 362 Coil 2.|Rod. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton ovary(1)|breast(1) 2 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) GGCAGCTGGAGAATGATCTGA 0.418 13 18 --- --- --- --- PASS INA 9118 broad.mit.edu 37 10 105046855 105046855 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:105046855C>T uc001kws.2 + 2 1178 c.1129C>T c.(1129-1131)CGG>TGG p.R377W NM_032727 NP_116116 Q16352 AINX_HUMAN internexin neuronal intermediate filament 377 Coil 2.|Rod. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton ovary(1)|breast(1) 2 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) ACGCCACCTTCGGGAATACCA 0.463 20 17 --- --- --- --- PASS SH3PXD2A 9644 broad.mit.edu 37 10 105361813 105361813 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:105361813G>A uc001kxj.1 - 14 3218 c.3078C>T c.(3076-3078)CCC>CCT p.P1026P SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Silent_p.P861P|SH3PXD2A_uc010qqt.1_Silent_p.P903P|SH3PXD2A_uc009xxn.1_Silent_p.P861P|SH3PXD2A_uc010qqu.1_Silent_p.P969P NM_014631 NP_055446 Q5TCZ1 SPD2A_HUMAN SH3 multiple domains 1 1054 cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding 0 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) CAGGGGACACGGGTATGCTGT 0.632 22 56 --- --- --- --- PASS C10orf79 80217 broad.mit.edu 37 10 105912413 105912413 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:105912413C>T uc001kxw.2 - 28 3728 c.3612G>A c.(3610-3612)TTG>TTA p.L1204L C10orf79_uc009xxq.2_Silent_p.L512L NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 1204 Potential. 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) AAAGTCTTTTCAAATGTTCAT 0.318 4 50 --- --- --- --- PASS C10orf79 80217 broad.mit.edu 37 10 105944865 105944865 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:105944865G>A uc001kxw.2 - 16 2166 c.2050C>T c.(2050-2052)CAT>TAT p.H684Y C10orf79_uc009xxq.2_5'UTR|C10orf79_uc001kxx.3_Missense_Mutation_p.H685Y NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 684 WD 9. 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) TGAATCCCATGACCCTGGTGA 0.403 26 36 --- --- --- --- PASS SORCS3 22986 broad.mit.edu 37 10 106974253 106974253 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:106974253C>T uc001kyi.1 + 18 2656 c.2429C>T c.(2428-2430)ACC>ATC p.T810I SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 810 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GAGAAGTACACCGCCAAGGCC 0.537 11 46 --- --- --- --- PASS SORCS1 114815 broad.mit.edu 37 10 108366968 108366968 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:108366968C>T uc001kym.2 - 23 3129 c.3121G>A c.(3121-3123)GAT>AAT p.D1041N SORCS1_uc001kyl.2_Missense_Mutation_p.D1041N|SORCS1_uc009xxs.2_Missense_Mutation_p.D1041N|SORCS1_uc001kyn.1_Missense_Mutation_p.D1041N|SORCS1_uc001kyo.2_Missense_Mutation_p.D1041N NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 1041 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CCAGCTGGATCCTGATAGGGT 0.547 13 28 --- --- --- --- PASS SORCS1 114815 broad.mit.edu 37 10 108437114 108437114 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:108437114G>A uc001kym.2 - 13 1797 c.1789C>T c.(1789-1791)CTG>TTG p.L597L SORCS1_uc001kyl.2_Silent_p.L597L|SORCS1_uc009xxs.2_Silent_p.L597L|SORCS1_uc001kyn.1_Silent_p.L597L|SORCS1_uc001kyo.2_Silent_p.L597L NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 597 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) ATAGCAACCAGGACTCCACCT 0.463 19 27 --- --- --- --- PASS SMC3 9126 broad.mit.edu 37 10 112337612 112337612 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:112337612C>T uc001kze.2 + 6 416 c.290C>T c.(289-291)TCA>TTA p.S97L NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 97 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) GAGGAAGTTTCACTTCGAAGA 0.294 5 33 --- --- --- --- PASS TECTB 6975 broad.mit.edu 37 10 114043501 114043501 + Silent SNP G A A rs139784993 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:114043501G>A uc001kzr.1 + 1 9 c.9G>A c.(7-9)ACG>ACA p.T3T NM_058222 NP_478129 Q96PL2 TECTB_HUMAN tectorin beta precursor 3 anchored to membrane|plasma membrane|proteinaceous extracellular matrix 0 Colorectal(252;0.198) Epithelial(162;0.0143)|all cancers(201;0.0242) CAATGGTGACGAAGGCCTTTG 0.507 4 20 --- --- --- --- PASS NRAP 4892 broad.mit.edu 37 10 115383302 115383302 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:115383302C>T uc001laj.2 - 23 2607 c.2443G>A c.(2443-2445)GAC>AAC p.D815N NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.D780N|NRAP_uc001lal.3_Missense_Mutation_p.D815N NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 815 Nebulin 20. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CTAGCCAGGtccctcttggct 0.353 26 26 --- --- --- --- PASS CASP7 840 broad.mit.edu 37 10 115457308 115457308 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:115457308A>G uc001lan.2 + 2 230 c.56A>G c.(55-57)GAA>GGA p.E19G CASP7_uc001lam.2_Missense_Mutation_p.E19G|CASP7_uc001lao.2_Missense_Mutation_p.E52G|CASP7_uc001lap.2_Missense_Mutation_p.E19G|CASP7_uc001laq.2_Missense_Mutation_p.E19G|CASP7_uc010qsa.1_Missense_Mutation_p.K94E NM_033339 NP_203125 P55210 CASP7_HUMAN caspase 7 isoform alpha 19 activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm cysteine-type endopeptidase activity|protein binding ovary(1) 1 Colorectal(252;0.0946)|Breast(234;0.188) Epithelial(162;0.012)|all cancers(201;0.014) TCAGCAAATGAAGATTCAGTG 0.507 39 74 --- --- --- --- PASS C10orf81 79949 broad.mit.edu 37 10 115529619 115529619 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:115529619C>T uc001lat.1 + 6 1056 c.494C>T c.(493-495)GCT>GTT p.A165V C10orf81_uc001lar.1_Missense_Mutation_p.A171V|C10orf81_uc009xyc.1_Missense_Mutation_p.A83V|C10orf81_uc001las.1_Missense_Mutation_p.A83V|C10orf81_uc001lau.1_5'Flank NM_024889 NP_079165 Q5SXH7 CJ081_HUMAN hypothetical protein LOC79949 165 central_nervous_system(1) 1 Colorectal(252;0.175) Epithelial(162;0.0181)|all cancers(201;0.0204) ACATCAGAGGCTGTTGGCTCC 0.493 44 60 --- --- --- --- PASS C10orf118 55088 broad.mit.edu 37 10 115885742 115885742 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:115885742G>A uc001lbb.1 - 15 3168 c.2516C>T c.(2515-2517)CCA>CTA p.P839L C10orf118_uc009xyd.1_Intron|C10orf118_uc001lbc.1_Missense_Mutation_p.P839L|C10orf118_uc009xye.1_RNA NM_018017 NP_060487 Q7Z3E2 CJ118_HUMAN CTCL tumor antigen L14-2 839 ovary(2) 2 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0161)|all cancers(201;0.0397) ATTGTCAGCTGGATGGGATGT 0.383 15 25 --- --- --- --- PASS TDRD1 56165 broad.mit.edu 37 10 115947891 115947891 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:115947891G>A uc001lbg.1 + 2 454 c.301G>A c.(301-303)GGA>AGA p.G101R TDRD1_uc001lbf.2_Missense_Mutation_p.G92R|TDRD1_uc001lbh.1_Missense_Mutation_p.G92R|TDRD1_uc001lbi.1_Missense_Mutation_p.G92R NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 101 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) TGGCTCCAAAGGAGACAGGAA 0.413 34 37 --- --- --- --- PASS TDRD1 56165 broad.mit.edu 37 10 115947893 115947893 + Silent SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:115947893A>T uc001lbg.1 + 2 456 c.303A>T c.(301-303)GGA>GGT p.G101G TDRD1_uc001lbf.2_Silent_p.G92G|TDRD1_uc001lbh.1_Silent_p.G92G|TDRD1_uc001lbi.1_Silent_p.G92G NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 101 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) GCTCCAAAGGAGACAGGAAAA 0.418 33 39 --- --- --- --- PASS VWA2 340706 broad.mit.edu 37 10 116038536 116038536 + Silent SNP C T T rs145257901 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:116038536C>T uc001lbl.1 + 8 1080 c.759C>T c.(757-759)TTC>TTT p.F253F VWA2_uc001lbk.1_Silent_p.F253F|VWA2_uc009xyf.1_5'UTR NM_198496 NP_940898 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 253 extracellular region ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Epithelial(162;0.036)|all cancers(201;0.0793) TCCGGGAGTTCGCTGGCAATG 0.647 17 24 --- --- --- --- PASS ATRNL1 26033 broad.mit.edu 37 10 117061501 117061501 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:117061501C>T uc001lcg.2 + 17 3152 c.2766C>T c.(2764-2766)ATC>ATT p.I922I ATRNL1_uc010qsm.1_Silent_p.I97I|ATRNL1_uc010qsn.1_RNA NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 922 PSI 4.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) ATGCCTATATCATCTCTTTTC 0.428 27 29 --- --- --- --- PASS PNLIP 5406 broad.mit.edu 37 10 118306827 118306827 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:118306827G>A uc001lcm.2 + 3 111 c.68G>A c.(67-69)AGA>AAA p.R23K NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor 23 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) TGCTACGAAAGACTCGGCTGC 0.428 13 49 --- --- --- --- PASS PNLIP 5406 broad.mit.edu 37 10 118318691 118318691 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:118318691G>A uc001lcm.2 + 10 999 c.956G>A c.(955-957)GGA>GAA p.G319E NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor 319 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) TGTCCAAGTGGAGGCTGCCCA 0.408 12 23 --- --- --- --- PASS PDZD8 118987 broad.mit.edu 37 10 119044399 119044399 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:119044399G>A uc001lde.1 - 5 2044 c.1845C>T c.(1843-1845)CTC>CTT p.L615L NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 615 Pro-rich. intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) GCTTTTCAACGAGAACATCTG 0.498 23 54 --- --- --- --- PASS PRDX3 10935 broad.mit.edu 37 10 120933973 120933973 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:120933973G>A uc001lec.2 - 3 344 c.301C>T c.(301-303)CCT>TCT p.P101S NM_006793 NP_006784 P30048 PRDX3_HUMAN peroxiredoxin 3 isoform a precursor 101 Thioredoxin. cell redox homeostasis|hydrogen peroxide catabolic process|mitochondrion organization|myeloid cell differentiation|negative regulation of kinase activity|positive regulation of cell proliferation|positive regulation of NF-kappaB transcription factor activity|regulation of mitochondrial membrane potential|response to lipopolysaccharide early endosome|mitochondrion alkyl hydroperoxide reductase activity|caspase inhibitor activity|peroxidase activity|peroxiredoxin activity|protein C-terminus binding|protein kinase binding 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0245) AAATCCAAAGGATAGAAGAAA 0.408 16 32 --- --- --- --- PASS GRK5 2869 broad.mit.edu 37 10 121182680 121182680 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:121182680C>T uc001led.2 + 5 575 c.342C>T c.(340-342)TCC>TCT p.S114S GRK5_uc009xzh.2_Silent_p.S9S|GRK5_uc010qta.1_Silent_p.S9S NM_005308 NP_005299 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 114 N-terminal.|RGS. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity lung(2)|stomach(1) 3 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) TCTTCCAGTCCCCTGTTTTCA 0.582 33 150 --- --- --- --- PASS DMBT1 1755 broad.mit.edu 37 10 124339165 124339165 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:124339165T>A uc001lgk.1 + 10 857 c.751T>A c.(751-753)TAC>AAC p.Y251N DMBT1_uc001lgl.1_Missense_Mutation_p.Y251N|DMBT1_uc001lgm.1_Missense_Mutation_p.Y251N|DMBT1_uc009xzz.1_Missense_Mutation_p.Y251N|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.Y103N NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 251 SRCR 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGAGGTCCTATACCGAGGCTC 0.597 94 179 --- --- --- --- PASS FAM24A 118670 broad.mit.edu 37 10 124671195 124671195 + Missense_Mutation SNP C G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:124671195C>G uc001lgv.2 + 2 166 c.45C>G c.(43-45)ATC>ATG p.I15M NM_001029888 NP_001025059 A6NFZ4 FA24A_HUMAN family with sequence similarity 24, member A 15 extracellular region ovary(2) 2 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141) TGATCGGCATCGGAAGCAGCT 0.498 73 133 --- --- --- --- PASS CPXM2 119587 broad.mit.edu 37 10 125516831 125516831 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:125516831G>A uc001lhk.1 - 12 2140 c.1815C>T c.(1813-1815)TTC>TTT p.F605F CPXM2_uc001lhj.2_RNA NM_198148 NP_937791 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 605 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) TGGACAGTTCGAAGCAGTTTG 0.498 42 39 --- --- --- --- PASS UROS 7390 broad.mit.edu 37 10 127503624 127503624 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:127503624C>T uc001liw.3 - 3 356 c.223G>A c.(223-225)GAG>AAG p.E75K UROS_uc001liv.3_5'UTR|UROS_uc010quh.1_RNA|UROS_uc001lix.3_Missense_Mutation_p.E75K|UROS_uc001liy.3_RNA|UROS_uc001liz.2_RNA NM_000375 NP_000366 P10746 HEM4_HUMAN uroporphyrinogen III synthase 75 heme biosynthetic process|uroporphyrinogen III biosynthetic process cytosol|mitochondrion uroporphyrinogen-III synthase activity 0 all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203) TTGTTTTGCTCCAAACATAAC 0.443 16 14 --- --- --- --- PASS C10orf90 118611 broad.mit.edu 37 10 128114446 128114446 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:128114446C>T uc001ljq.2 - 9 2208 c.2087G>A c.(2086-2088)AGG>AAG p.R696K C10orf90_uc001ljp.2_Missense_Mutation_p.R552K|C10orf90_uc010qum.1_Missense_Mutation_p.R793K|C10orf90_uc001ljo.2_RNA NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN hypothetical protein LOC118611 696 ovary(1)|skin(1) 2 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) GACCGCATTCCTTTGAAGGAG 0.488 13 29 --- --- --- --- PASS C10orf90 118611 broad.mit.edu 37 10 128193239 128193239 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:128193239G>A uc001ljq.2 - 3 651 c.530C>T c.(529-531)CCC>CTC p.P177L C10orf90_uc001ljp.2_Missense_Mutation_p.P130L|C10orf90_uc010qum.1_Missense_Mutation_p.P274L|C10orf90_uc009yao.2_Missense_Mutation_p.P274L|C10orf90_uc001ljs.1_Missense_Mutation_p.P130L NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN hypothetical protein LOC118611 177 ovary(1)|skin(1) 2 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) CAGAGCCGGGGGCGCCTGGAA 0.667 OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 34 --- --- --- --- PASS FAM196A 642938 broad.mit.edu 37 10 128974270 128974270 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:128974270G>A uc001lju.1 - 1 431 c.390C>T c.(388-390)CTC>CTT p.L130L DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Silent_p.L130L|FAM196A_uc001ljv.1_Silent_p.L130L|FAM196A_uc009yap.1_Silent_p.L130L NM_001039762 NP_001034851 Q6ZSG2 F196A_HUMAN hypothetical protein LOC642938 130 ovary(2) 2 CTGCAGCTGGGAGGCTTTTGA 0.552 14 28 --- --- --- --- PASS MGMT 4255 broad.mit.edu 37 10 131506293 131506293 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:131506293C>T uc001lkh.2 + 3 379 c.353C>T c.(352-354)CCC>CTC p.P118L NM_002412 NP_002403 P16455 MGMT_HUMAN O-6-methylguanine-DNA methyltransferase 87 ovary(1)|breast(1) 2 all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167) OV - Ovarian serous cystadenocarcinoma(35;0.00291) CTTCACCATCCCGTTTTCCAG 0.532 Direct_reversal_of_damage 24 39 --- --- --- --- PASS TCERG1L 256536 broad.mit.edu 37 10 133107540 133107540 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:133107540G>T uc001lkp.2 - 2 451 c.365C>A c.(364-366)CCG>CAG p.P122Q NM_174937 NP_777597 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 122 p.P81Q(1) large_intestine(2)|ovary(2) 4 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) TCCTAGGGACGGAGAATGGCC 0.527 13 25 --- --- --- --- PASS TCERG1L 256536 broad.mit.edu 37 10 133107541 133107541 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:133107541G>A uc001lkp.2 - 2 450 c.364C>T c.(364-366)CCG>TCG p.P122S NM_174937 NP_777597 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 122 large_intestine(2)|ovary(2) 4 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) CCTAGGGACGGAGAATGGCCA 0.527 12 25 --- --- --- --- PASS PPP2R2D 55844 broad.mit.edu 37 10 133769400 133769400 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:133769400C>T uc001lks.2 + 7 1439 c.1196C>T c.(1195-1197)CCC>CTC p.P399L PPP2R2D_uc001lkr.2_Missense_Mutation_p.P205L|PPP2R2D_uc001lkt.2_Missense_Mutation_p.P205L|PPP2R2D_uc009yay.2_Missense_Mutation_p.P267L NM_018461 NP_060931 Q66LE6 2ABD_HUMAN protein phosphatase 2, regulatory subunit B, 432 WD 7. cell division|exit from mitosis|mitosis|signal transduction cytoplasm|protein phosphatase type 2A complex protein phosphatase type 2A regulator activity skin(1) 1 all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21) GCCTGGCACCCCGTGGACAAT 0.522 5 9 --- --- --- --- PASS JAKMIP3 282973 broad.mit.edu 37 10 133930772 133930772 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:133930772G>A uc001lkx.3 + 2 327 c.327G>A c.(325-327)AAG>AAA p.K109K NM_001105521 NP_001098991 Janus kinase and microtubule interacting protein breast(1) 1 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) TCAAGATCAAGGACAACGAGA 0.607 7 33 --- --- --- --- PASS DPYSL4 10570 broad.mit.edu 37 10 134006186 134006186 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:134006186C>T uc009ybb.2 + 3 307 c.153C>T c.(151-153)GTC>GTT p.V51V NM_006426 NP_006417 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 51 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides central_nervous_system(2) 2 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) ACCTCATCGTCCCTGGGGGCA 0.577 11 41 --- --- --- --- PASS C10orf93 255352 broad.mit.edu 37 10 134743005 134743005 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:134743005G>T uc001llt.1 - 9 1246 c.1170C>A c.(1168-1170)CTC>CTA p.L390L NM_173572 NP_775843 Q5SR76 CJ093_HUMAN hypothetical protein LOC255352 Error:Variant_position_missing_in_Q5SR76_after_alignment binding pancreas(1) 1 all_cancers(35;1.8e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Colorectal(31;0.119)|Glioma(114;0.172)|Melanoma(40;0.175) Epithelial(32;4.28e-05)|OV - Ovarian serous cystadenocarcinoma(35;4.31e-05)|all cancers(32;5.02e-05) gaaaggtaaagagaaacgggc 0.129 4 21 --- --- --- --- PASS KNDC1 85442 broad.mit.edu 37 10 135000137 135000137 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:135000137C>T uc001llz.1 + 6 1286 c.1285C>T c.(1285-1287)CCA>TCA p.P429S KNDC1_uc001lma.1_Missense_Mutation_p.P364S NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 429 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) TGAGAGAATTCCAGAAGGAGC 0.662 4 22 --- --- --- --- PASS TUBGCP2 10844 broad.mit.edu 37 10 135099073 135099073 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:135099073G>A uc001lmg.1 - 12 2139 c.1782C>T c.(1780-1782)ACC>ACT p.T594T TUBGCP2_uc001lmf.1_Silent_p.T187T|TUBGCP2_uc010qvc.1_Silent_p.T622T|TUBGCP2_uc009ybk.1_Intron|TUBGCP2_uc010qvd.1_Silent_p.T464T|TUBGCP2_uc001lmh.1_RNA NM_006659 NP_006650 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 594 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) TCTCCTGCTTGGTCTCGATGG 0.587 4 11 --- --- --- --- PASS PAOX 196743 broad.mit.edu 37 10 135197503 135197503 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr10:135197503C>T uc001lmv.2 + 4 988 c.908C>T c.(907-909)CCC>CTC p.P303L PAOX_uc001lmw.2_Intron|PAOX_uc001lmx.2_Missense_Mutation_p.P303L|PAOX_uc001lmy.2_Intron|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_Intron|PAOX_uc001lnc.2_Intron NM_152911 NP_690875 Q6QHF9 PAOX_HUMAN polyamine oxidase isoform 1 441 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) TTTGACCCTCCCCTGCCGGCT 0.498 47 87 --- --- --- --- PASS ATHL1 80162 broad.mit.edu 37 11 293670 293670 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:293670G>A uc010qvu.1 + 10 1672 c.1557G>A c.(1555-1557)AGG>AGA p.R519R ATHL1_uc001lor.3_Silent_p.R271R|ATHL1_uc001lou.3_Silent_p.R94R|ATHL1_uc001lov.3_5'Flank NM_025092 NP_079368 Q32M88 ATHL1_HUMAN ATH1, acid trehalase-like 1 519 carbohydrate metabolic process hydrolase activity, acting on glycosyl bonds liver(1)|central_nervous_system(1)|skin(1) 3 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) ATGTTCGCAGGAAAAATCTGG 0.617 18 24 --- --- --- --- PASS DEAF1 10522 broad.mit.edu 37 11 688419 688419 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:688419G>A uc001lqq.1 - 3 1122 c.429C>T c.(427-429)ACC>ACT p.T143T DEAF1_uc009ycf.1_5'Flank NM_021008 NP_066288 O75398 DEAF1_HUMAN deformed epidermal autoregulatory factor 1 143 embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|cytoplasm|extracellular region|nucleus protein binding|zinc ion binding 0 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) TCGCTTTTTCGGTGTTCAGGC 0.607 10 21 --- --- --- --- PASS DEAF1 10522 broad.mit.edu 37 11 688420 688420 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:688420G>A uc001lqq.1 - 3 1121 c.428C>T c.(427-429)ACC>ATC p.T143I DEAF1_uc009ycf.1_5'Flank NM_021008 NP_066288 O75398 DEAF1_HUMAN deformed epidermal autoregulatory factor 1 143 embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|cytoplasm|extracellular region|nucleus protein binding|zinc ion binding 0 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) CGCTTTTTCGGTGTTCAGGCT 0.602 10 21 --- --- --- --- PASS PDDC1 347862 broad.mit.edu 37 11 772466 772466 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:772466C>A uc001lrc.2 - 5 436 c.411G>T c.(409-411)GAG>GAT p.E137D PDDC1_uc010qwm.1_Missense_Mutation_p.E87D|PDDC1_uc001lrd.2_Missense_Mutation_p.E137D|PDDC1_uc001lrf.1_Missense_Mutation_p.E101D|PDDC1_uc001lrg.1_RNA|PDDC1_uc009ycg.2_Missense_Mutation_p.E87D|PDDC1_uc010qwn.1_RNA|PDDC1_uc010qwo.1_RNA|PDDC1_uc010qwp.1_Missense_Mutation_p.E101D|PDDC1_uc010qwq.1_Missense_Mutation_p.E51D|PDDC1_uc010qwr.1_Missense_Mutation_p.E137D|PDDC1_uc010qws.1_Missense_Mutation_p.E87D NM_182612 NP_872418 Q8NB37 PDDC1_HUMAN Parkinson disease 7 domain containing 1 137 extracellular region 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGGATCTGTCCTCGTTGGTGG 0.662 5 74 --- --- --- --- PASS MUC6 4588 broad.mit.edu 37 11 1025323 1025323 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:1025323C>T uc001lsw.2 - 23 2895 c.2844G>A c.(2842-2844)GGG>GGA p.G948G NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 948 VWFD 3. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGGGCTCCTCCCCGGTGACCG 0.662 7 35 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1262555 1262555 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:1262555C>T uc009ycr.1 + 47 6650 c.6524C>T c.(6523-6525)TCG>TTG p.S2175L MUC5B_uc001ltb.2_Missense_Mutation_p.S1485L NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 1482 7 X Cys-rich subdomain repeats.|Thr-rich. 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) GCCCTCACCTCGCAGACTGGG 0.662 4 6 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1267841 1267841 + Missense_Mutation SNP C G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:1267841C>G uc009ycr.1 + 49 11606 c.11480C>G c.(11479-11481)TCC>TGC p.S3827C MUC5B_uc001ltb.2_Missense_Mutation_p.S3247C NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 3244 7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich. Missing (in Ref. 6; AAB61398). 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) CCCTCTTCCTCCCTGGGCACC 0.632 27 87 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1271670 1271670 + Silent SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:1271670C>A uc009ycr.1 + 51 15105 c.14979C>A c.(14977-14979)ACC>ACA p.T4993T MUC5B_uc001ltb.2_Silent_p.T4523T NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 4520 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. 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) CCACAGCTACCAGCTTTACAG 0.627 28 39 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1273754 1273754 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:1273754G>T uc009ycr.1 + 53 16137 c.16011G>T c.(16009-16011)CAG>CAT p.Q5337H MUC5B_uc001ltb.2_Missense_Mutation_p.Q5018H NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 5015 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) CTCTCCGGCAGGTGGGCCCCG 0.716 5 10 --- --- --- --- PASS MOB2 81532 broad.mit.edu 37 11 1492537 1492537 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:1492537G>A uc010qwz.1 - 4 668 c.478C>T c.(478-480)CCC>TCC p.P160S MOB2_uc001lto.1_Missense_Mutation_p.P44S|MOB2_uc001ltp.1_5'UTR|MOB2_uc001ltq.1_Missense_Mutation_p.P123S|MOB2_uc010qwy.1_Missense_Mutation_p.P44S NM_053005 NP_443731 Q70IA6 MOB2_HUMAN HCCA2 protein 129 nucleus|perinuclear region of cytoplasm metal ion binding 0 TATTTTGTGGGGAACACGTCC 0.592 8 19 --- --- --- --- PASS KRTAP5-1 387264 broad.mit.edu 37 11 1606160 1606160 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:1606160C>T uc001ltu.1 - 1 354 c.320G>A c.(319-321)GGG>GAG p.G107E LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron NM_001005922 NP_001005922 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 107 8 X 4 AA repeats of C-C-X-P. keratin filament 0 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GCCACAGCCCCCCTTGGAGCC 0.672 4 21 --- --- --- --- PASS KRTAP5-1 387264 broad.mit.edu 37 11 1606161 1606161 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:1606161C>T uc001ltu.1 - 1 353 c.319G>A c.(319-321)GGG>AGG p.G107R LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron NM_001005922 NP_001005922 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 107 8 X 4 AA repeats of C-C-X-P. keratin filament 0 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCACAGCCCCCCTTGGAGCCC 0.672 4 21 --- --- --- --- PASS KRTAP5-5 439915 broad.mit.edu 37 11 1651422 1651422 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:1651422G>A uc001lty.2 + 1 390 c.352G>A c.(352-354)GGC>AGC p.G118S NM_001001480 NP_001001480 Q701N2 KRA55_HUMAN keratin associated protein 5-5 118 8 X 4 AA repeats of C-C-X-P. Missing (in Ref. 1; BAD20201 and 2; CAF31639). keratin filament lung(1) 1 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GTCCAAGGGGGGCTGTGGCTC 0.701 7 19 --- --- --- --- PASS KRTAP5-5 439915 broad.mit.edu 37 11 1651541 1651541 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:1651541C>T uc001lty.2 + 1 509 c.471C>T c.(469-471)TCC>TCT p.S157S NM_001001480 NP_001001480 Q701N2 KRA55_HUMAN keratin associated protein 5-5 157 8 X 4 AA repeats of C-C-X-P. S -> C (in Ref. 1; BAD20201 and 2; CAF31639). keratin filament lung(1) 1 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GCTCCCAGTCCAGCTGCTGCA 0.652 6 19 --- --- --- --- PASS TRPM5 29850 broad.mit.edu 37 11 2434714 2434714 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:2434714G>A uc001lwm.3 - 13 2004 c.1995C>T c.(1993-1995)ATC>ATT p.I665I TRPM5_uc010qxl.1_Silent_p.I665I|TRPM5_uc009ydn.2_Silent_p.I667I NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, 665 Helical; (Potential). integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) ACCTGAAGGTGATGAGGTTGG 0.682 4 7 --- --- --- --- PASS STIM1 6786 broad.mit.edu 37 11 4091353 4091353 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:4091353C>T uc001lyv.2 + 6 1279 c.711C>T c.(709-711)TCC>TCT p.S237S STIM1_uc009yef.2_Silent_p.S237S|STIM1_uc009yeg.2_Silent_p.S64S NM_003156 NP_003147 Q13586 STIM1_HUMAN stromal interaction molecule 1 precursor 237 Cytoplasmic (Potential). activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule calcium ion binding|microtubule plus-end binding pancreas(1) 1 Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233) BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141) ACCGTTACTCCAAGGAGCACA 0.522 22 42 --- --- --- --- PASS OR51S1 119692 broad.mit.edu 37 11 4869963 4869963 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:4869963C>T uc010qyo.1 - 1 476 c.476G>A c.(475-477)CGA>CAA p.R159Q NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, 159 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ACCCAGGCATCGAAAAGAAAT 0.542 33 45 --- --- --- --- PASS MMP26 56547 broad.mit.edu 37 11 5012670 5012670 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:5012670G>A uc001lzv.2 + 4 557 c.539G>A c.(538-540)GGA>GAA p.G180E NM_021801 NP_068573 Q9NRE1 MMP26_HUMAN matrix metalloproteinase 26 preproprotein 180 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) CCAAATTCTGGAAATCCTGGA 0.473 27 127 --- --- --- --- PASS OR52E2 119678 broad.mit.edu 37 11 5079909 5079909 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:5079909C>T uc010qyw.1 - 1 949 c.949G>A c.(949-951)GAA>AAA p.E317K NM_001005164 NP_001005164 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, 317 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) AGGTACTCTTCCTTTTCCATT 0.338 19 31 --- --- --- --- PASS HBD 3045 broad.mit.edu 37 11 5254288 5254288 + Missense_Mutation SNP C T T rs34536353 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:5254288C>T uc001maf.1 - 3 545 c.350G>A c.(349-351)CGC>CAC p.R117H NM_000519 NP_000510 P02042 HBD_HUMAN delta globin 117 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCAAAGTTGCGGGCCAGCAC 0.512 20 36 --- --- --- --- PASS OR51B4 79339 broad.mit.edu 37 11 5322575 5322575 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:5322575G>A uc010qza.1 - 1 602 c.602C>T c.(601-603)TCT>TTT p.S201F HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033179 NP_149419 Q9Y5P0 O51B4_HUMAN olfactory receptor, family 51, subfamily B, 201 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GACAGTCAAAGAAGTCTGAAT 0.393 11 34 --- --- --- --- PASS OR51B2 79345 broad.mit.edu 37 11 5345101 5345101 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:5345101C>T uc001mao.1 - 1 482 c.427G>A c.(427-429)GGA>AGA p.G143R HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033180 NP_149420 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, 143 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTCCCACTCCTAACGCTATG 0.408 37 42 --- --- --- --- PASS OR51B6 390058 broad.mit.edu 37 11 5373580 5373580 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:5373580C>T uc010qzb.1 + 1 843 c.843C>T c.(841-843)TTC>TTT p.F281F HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004750 NP_001004750 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, 281 Helical; Name=7; (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;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTTCCTTTTCCCACCTTTTA 0.383 7 44 --- --- --- --- PASS OR51M1 390059 broad.mit.edu 37 11 5410988 5410988 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:5410988C>T uc010qzc.1 + 1 360 c.360C>T c.(358-360)TCC>TCT p.S120S HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, 120 integral to membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTCTTTTTCCTTCATGGAGT 0.502 26 124 --- --- --- --- PASS OR52D1 390066 broad.mit.edu 37 11 5509997 5509997 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:5509997C>T uc010qzg.1 + 1 61 c.61C>T c.(61-63)CCA>TCA p.P21S HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001005163 NP_001005163 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, 21 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AACAGGGATCCCAGGGCTGGA 0.483 8 36 --- --- --- --- PASS UBQLN3 50613 broad.mit.edu 37 11 5530073 5530073 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:5530073C>A uc001may.1 - 2 802 c.716G>T c.(715-717)CGG>CTG p.R239L HBG2_uc001mak.1_Intron NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 239 ovary(3) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTGAGCACCCGGTCCTGGCT 0.483 5 59 --- --- --- --- PASS OR52N4 390072 broad.mit.edu 37 11 5776770 5776770 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:5776770G>A uc001mbu.2 + 1 848 c.800G>A c.(799-801)GGG>GAG p.G267E TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, 267 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) CACCGCTTTGGGGAACACATA 0.463 20 73 --- --- --- --- PASS OR52E6 390078 broad.mit.edu 37 11 5863044 5863044 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:5863044C>T uc010qzq.1 - 1 84 c.84G>A c.(82-84)TGG>TGA p.W28* TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, 28 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGAATCCAATCCAGATGTGCA 0.443 39 72 --- --- --- --- PASS OR56A3 390083 broad.mit.edu 37 11 5968751 5968751 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:5968751C>T uc010qzt.1 + 1 175 c.175C>T c.(175-177)CTG>TTG p.L59L NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, 59 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGAGGCCTCTCTGCACCAGCC 0.612 27 26 --- --- --- --- PASS OR56A1 120796 broad.mit.edu 37 11 6048179 6048179 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:6048179G>A uc010qzw.1 - 1 756 c.756C>T c.(754-756)TTC>TTT p.F252F NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, 252 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAATGAGGATGAAGTGGGAGC 0.512 17 22 --- --- --- --- PASS HPX 3263 broad.mit.edu 37 11 6452588 6452588 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:6452588G>A uc001mdg.2 - 10 1303 c.1242C>T c.(1240-1242)GGC>GGT p.G414G HPX_uc001mdf.2_Silent_p.G160G|HPX_uc009yfc.2_RNA NM_000613 NP_000604 P02790 HEMO_HUMAN hemopexin precursor 414 cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) ATGAGTTAGGGCCAAGGGACT 0.552 18 30 --- --- --- --- PASS TRIM3 10612 broad.mit.edu 37 11 6477540 6477540 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:6477540G>A uc001mdh.2 - 7 1803 c.1416C>T c.(1414-1416)CTC>CTT p.L472L TRIM3_uc001mdi.2_Silent_p.L472L|TRIM3_uc010raj.1_Silent_p.L353L|TRIM3_uc009yfd.2_Silent_p.L472L|TRIM3_uc010rak.1_Silent_p.L472L|TRIM3_uc001mdj.2_Silent_p.L353L NM_006458 NP_006449 O75382 TRIM3_HUMAN tripartite motif-containing 3 472 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1) 5 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) CACGGAAGACGAGCTCATCCT 0.607 7 41 --- --- --- --- PASS DCHS1 8642 broad.mit.edu 37 11 6649925 6649925 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:6649925G>A uc001mem.1 - 13 5708 c.5298C>T c.(5296-5298)CCC>CCT p.P1766P NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 1766 Cadherin 17.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TAAGGGTCTGGGGGTCCTGGC 0.572 16 23 --- --- --- --- PASS DCHS1 8642 broad.mit.edu 37 11 6651036 6651036 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:6651036G>A uc001mem.1 - 11 5312 c.4902C>T c.(4900-4902)GTC>GTT p.V1634V NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 1634 Cadherin 15.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGACGGTCAGGACCTGCGTGG 0.642 10 11 --- --- --- --- PASS OR10A2 341276 broad.mit.edu 37 11 6891165 6891165 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:6891165C>T uc001meu.1 + 1 180 c.180C>T c.(178-180)TTC>TTT p.F60F NM_001004460 NP_001004460 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, 60 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) AGATTGGCTTCAACCTAGTCA 0.493 16 63 --- --- --- --- PASS NLRP14 338323 broad.mit.edu 37 11 7064414 7064414 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:7064414G>A uc001mfb.1 + 4 1480 c.1157G>A c.(1156-1158)GGT>GAT p.G386D NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 386 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) ATGGAGAAGGGTGGTGATGTC 0.478 16 67 --- --- --- --- PASS NLRP10 338322 broad.mit.edu 37 11 7984936 7984936 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:7984936G>A uc001mfv.1 - 1 124 c.107C>T c.(106-108)ACC>ATC p.T36I NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 36 DAPIN. ATP binding lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTCAGACAGGGTCATATCCCG 0.537 17 24 --- --- --- --- PASS LYVE1 10894 broad.mit.edu 37 11 10585793 10585793 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:10585793C>T uc001miv.2 - 2 500 c.214G>A c.(214-216)GAC>AAC p.D72N uc001miu.2_Intron|LYVE1_uc010rca.1_Intron NM_006691 NP_006682 Q9Y5Y7 LYVE1_HUMAN lymphatic vessel endothelial hyaluronan receptor 72 Link.|Extracellular (Potential). anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport integral to plasma membrane|membrane fraction central_nervous_system(1)|skin(1) 2 all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609) TCAACTTGGTCCTTGCCGGCC 0.478 10 21 --- --- --- --- PASS COPB1 1315 broad.mit.edu 37 11 14480174 14480174 + Silent SNP A C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:14480174A>C uc001mli.2 - 21 3013 c.2706T>G c.(2704-2706)GGT>GGG p.G902G COPB1_uc001mlg.2_Silent_p.G902G|COPB1_uc001mlh.2_Silent_p.G902G NM_016451 NP_057535 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 902 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity ovary(1)|central_nervous_system(1) 2 GTGCATCTTCACCAAATATGG 0.428 23 58 --- --- --- --- PASS ABCC8 6833 broad.mit.edu 37 11 17485036 17485036 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:17485036C>T uc001mnc.2 - 4 654 c.528G>A c.(526-528)GTG>GTA p.V176V ABCC8_uc010rcy.1_Silent_p.V176V NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 176 Helical; Name=5; (By similarity). 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) CATAGAGGATCACCAGCAGCC 0.597 5 8 --- --- --- --- PASS TSG101 7251 broad.mit.edu 37 11 18503269 18503269 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:18503269G>A uc001mor.2 - 9 1117 c.991C>T c.(991-993)CTG>TTG p.L331L NM_006292 NP_006283 Q99816 TS101_HUMAN tumor susceptibility gene 101 331 SB. cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding 0 TCTGCATACAGATTCAGGATC 0.403 24 47 --- --- --- --- PASS NAV2 89797 broad.mit.edu 37 11 20112443 20112443 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:20112443C>T uc001mpr.3 + 27 5901 c.5540C>T c.(5539-5541)ACC>ATC p.T1847I NAV2_uc001mpp.2_Missense_Mutation_p.T1780I|NAV2_uc009yhx.2_Missense_Mutation_p.T908I|NAV2_uc009yhz.2_Missense_Mutation_p.T489I|NAV2_uc001mpu.2_Missense_Mutation_p.T282I NM_182964 NP_892009 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 1 1903 Potential. nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 GAAGCTGAGACCGTCATGCAG 0.488 15 27 --- --- --- --- PASS DBX1 120237 broad.mit.edu 37 11 20178223 20178223 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:20178223C>T uc001mpw.1 - 4 686 c.686G>A c.(685-687)AGG>AAG p.R229K NM_001029865 NP_001025036 A6NMT0 DBX1_HUMAN developing brain homeobox 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 AGGCTCTGTCCTTCGGGCTGT 0.667 4 16 --- --- --- --- PASS HTATIP2 10553 broad.mit.edu 37 11 20385820 20385820 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:20385820G>A uc009yia.1 + 2 103 c.37G>A c.(37-39)GAC>AAC p.D13N HTATIP2_uc009yib.1_Missense_Mutation_p.D13N|HTATIP2_uc001mpx.2_Missense_Mutation_p.D47N|HTATIP2_uc001mpz.2_Missense_Mutation_p.D13N|HTATIP2_uc001mpy.3_Missense_Mutation_p.D13N NM_006410 NP_006401 Q9BUP3 HTAI2_HUMAN HIV-1 Tat interactive protein 2, 30kDa isoform 13 angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter cytoplasm|nuclear envelope NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity 0 GCTTCGGGAAGACTTCAGGAT 0.527 29 47 --- --- --- --- PASS ANO5 203859 broad.mit.edu 37 11 22283680 22283680 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:22283680C>T uc001mqi.2 + 16 1953 c.1636C>T c.(1636-1638)CCT>TCT p.P546S ANO5_uc001mqj.2_Missense_Mutation_p.P545S NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 546 Cytoplasmic (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 AACAGAAATTCCTCGAACATA 0.343 13 26 --- --- --- --- PASS SLC17A6 57084 broad.mit.edu 37 11 22360119 22360119 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:22360119G>A uc001mqk.2 + 1 453 c.40G>A c.(40-42)GAG>AAG p.E14K NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 14 Cytoplasmic (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 CCCAGGAAAAGAGGGGCTAAA 0.438 15 33 --- --- --- --- PASS KCNA4 3739 broad.mit.edu 37 11 30032975 30032975 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:30032975G>A uc001msk.2 - 2 2403 c.1251C>T c.(1249-1251)ATC>ATT p.I417I NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 417 Helical; Name=Segment S3; (Potential). voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TGCCCAGTGTGATGAAGTAAG 0.507 27 33 --- --- --- --- PASS MPPED2 744 broad.mit.edu 37 11 30433031 30433031 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:30433031T>C uc001msr.2 - 6 989 c.869A>G c.(868-870)AAC>AGC p.N290S MPPED2_uc001msq.3_Intron|MPPED2_uc009yji.2_Missense_Mutation_p.N164S NM_001584 NP_001575 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 290 nervous system development hydrolase activity|metal ion binding skin(1) 1 ACCCTGTGGGTTTGGAAGGTC 0.413 19 28 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 11 30925158 30925158 + RNA SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:30925158G>A uc001mss.1 - 10 c.1484C>T uc009yjk.1_Missense_Mutation_p.P909S|uc009yjj.1_RNA Homo sapiens mRNA for KIAA1493 protein, partial cds. GTAAAGATTGGGGTTCCATCT 0.443 7 11 --- --- --- --- PASS CSTF3 1479 broad.mit.edu 37 11 33117897 33117897 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:33117897G>A uc001muh.2 - 15 1496 c.1330C>T c.(1330-1332)CCA>TCA p.P444S TCP11L1_uc001muf.1_Intron NM_001326 NP_001317 Q12996 CSTF3_HUMAN cleavage stimulation factor subunit 3 isoform 1 444 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding 0 ACATACTCTGGAATGTCTCCA 0.333 4 18 --- --- --- --- PASS C11orf41 25758 broad.mit.edu 37 11 33566521 33566521 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:33566521G>A uc001mup.3 + 2 2233 c.2109G>A c.(2107-2109)AAG>AAA p.K703K C11orf41_uc001mun.1_Silent_p.K703K NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 697 integral to membrane ovary(2) 2 CTGGCCCAAAGAGGACACCAG 0.527 12 41 --- --- --- --- PASS NAT10 55226 broad.mit.edu 37 11 34152386 34152386 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:34152386C>T uc001mvk.2 + 13 1515 c.1271C>T c.(1270-1272)TCC>TTC p.S424F NAT10_uc010ren.1_Missense_Mutation_p.S352F NM_024662 NP_078938 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 isoform a 424 nucleolus ATP binding|N-acetyltransferase activity|protein binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) CGGTCACTGTCCCTCAAGCTA 0.542 9 34 --- --- --- --- PASS SLC1A2 6506 broad.mit.edu 37 11 35308473 35308473 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:35308473G>A uc001mwd.2 - 8 1709 c.1117C>T c.(1117-1119)CGT>TGT p.R373C SLC1A2_uc001mwe.2_Missense_Mutation_p.R364C|SLC1A2_uc010rev.1_Missense_Mutation_p.R373C NM_004171 NP_004162 P43004 EAA2_HUMAN excitatory amino acid transporter 2 373 D-aspartate import|L-glutamate import|synaptic transmission integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity p.T371fs*13(1) ovary(2)|central_nervous_system(1) 3 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) L-Glutamic Acid(DB00142) TCCAGGCAACGAAAGGTGACA 0.453 30 99 --- --- --- --- PASS SLC1A2 6506 broad.mit.edu 37 11 35313888 35313888 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:35313888G>A uc001mwd.2 - 7 1629 c.1037C>T c.(1036-1038)TCC>TTC p.S346F SLC1A2_uc001mwe.2_Missense_Mutation_p.S337F|SLC1A2_uc010rev.1_Missense_Mutation_p.S346F NM_004171 NP_004162 P43004 EAA2_HUMAN excitatory amino acid transporter 2 346 D-aspartate import|L-glutamate import|synaptic transmission integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity ovary(2)|central_nervous_system(1) 3 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) L-Glutamic Acid(DB00142) AGCAAAAAAGGAGAAGGGGTT 0.478 79 127 --- --- --- --- PASS PRR5L 79899 broad.mit.edu 37 11 36467879 36467879 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:36467879C>T uc001mwo.3 + 7 863 c.474C>T c.(472-474)TCC>TCT p.S158S PRR5L_uc001mwp.2_Silent_p.S158S|PRR5L_uc009ykk.2_Intron|PRR5L_uc010rfc.1_Silent_p.S158S NM_001160167 NP_001153639 Q6MZQ0 PRR5L_HUMAN protor-2 isoform a 158 ovary(1) 1 GCCAGATCTCCCTGCTGGGCT 0.607 11 22 --- --- --- --- PASS PRDM11 56981 broad.mit.edu 37 11 45203363 45203363 + Missense_Mutation SNP G C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:45203363G>C uc001myo.2 + 3 397 c.148G>C c.(148-150)GTG>CTG p.V50L NM_020229 NP_064614 Q9NQV5 PRD11_HUMAN PR domain containing 11 50 upper_aerodigestive_tract(1) 1 CAATGCAGCCGTGGGGGATAT 0.592 13 43 --- --- --- --- PASS CHST1 8534 broad.mit.edu 37 11 45672150 45672150 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:45672150C>T uc001mys.1 - 4 995 c.324G>A c.(322-324)AAG>AAA p.K108K NM_003654 NP_003645 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) 108 Lumenal (Potential). galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity skin(4)|pancreas(1) 5 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) CGGCCGGGCTCTTGCCCTGGG 0.637 8 22 --- --- --- --- PASS CHRM4 1132 broad.mit.edu 37 11 46407137 46407137 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:46407137G>A uc001nct.1 - 1 971 c.971C>T c.(970-972)CCC>CTC p.P324L NM_000741 NP_000732 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 324 Cytoplasmic (By similarity). cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity 0 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) GGGAGGGGCGGGCATGGCGGG 0.622 15 38 --- --- --- --- PASS MADD 8567 broad.mit.edu 37 11 47297704 47297704 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:47297704G>A uc001ner.1 + 4 1105 c.914G>A c.(913-915)GGT>GAT p.G305D MADD_uc001neq.2_Missense_Mutation_p.G305D|MADD_uc001nev.1_Missense_Mutation_p.G305D|MADD_uc001nes.1_Missense_Mutation_p.G305D|MADD_uc001net.1_Missense_Mutation_p.G305D|MADD_uc009yln.1_Missense_Mutation_p.G305D|MADD_uc001neu.1_Missense_Mutation_p.G305D|MADD_uc001nex.2_Missense_Mutation_p.G305D|MADD_uc001nez.2_Missense_Mutation_p.G305D|MADD_uc001new.2_Missense_Mutation_p.G305D NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 305 DENN. activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) GAACTTCTAGGTGTGGACGCC 0.517 12 17 --- --- --- --- PASS MADD 8567 broad.mit.edu 37 11 47306552 47306552 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:47306552C>T uc001ner.1 + 13 2409 c.2218C>T c.(2218-2220)CCT>TCT p.P740S MADD_uc001neq.2_Missense_Mutation_p.P740S|MADD_uc001nev.1_Missense_Mutation_p.P740S|MADD_uc001nes.1_Missense_Mutation_p.P740S|MADD_uc001net.1_Missense_Mutation_p.P740S|MADD_uc009yln.1_Missense_Mutation_p.P740S|MADD_uc001neu.1_Missense_Mutation_p.P740S|MADD_uc001nex.2_Missense_Mutation_p.P740S|MADD_uc001nez.2_Missense_Mutation_p.P740S|MADD_uc001new.2_Missense_Mutation_p.P740S NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 740 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) CAAGCCCCTCCCTTCCGTGCC 0.537 13 24 --- --- --- --- PASS MADD 8567 broad.mit.edu 37 11 47306553 47306553 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:47306553C>T uc001ner.1 + 13 2410 c.2219C>T c.(2218-2220)CCT>CTT p.P740L MADD_uc001neq.2_Missense_Mutation_p.P740L|MADD_uc001nev.1_Missense_Mutation_p.P740L|MADD_uc001nes.1_Missense_Mutation_p.P740L|MADD_uc001net.1_Missense_Mutation_p.P740L|MADD_uc009yln.1_Missense_Mutation_p.P740L|MADD_uc001neu.1_Missense_Mutation_p.P740L|MADD_uc001nex.2_Missense_Mutation_p.P740L|MADD_uc001nez.2_Missense_Mutation_p.P740L|MADD_uc001new.2_Missense_Mutation_p.P740L NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 740 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) AAGCCCCTCCCTTCCGTGCCT 0.537 13 28 --- --- --- --- PASS PSMC3 5702 broad.mit.edu 37 11 47446030 47446030 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:47446030G>A uc001nfh.2 - 5 597 c.403C>T c.(403-405)CCT>TCT p.P135S PSMC3_uc009ylr.1_Missense_Mutation_p.P93S NM_002804 NP_002795 P17980 PRS6A_HUMAN proteasome 26S ATPase subunit 3 135 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity ovary(4) 4 Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13) CCAATCACAGGAAGGAAGTAC 0.572 13 19 --- --- --- --- PASS NUP160 23279 broad.mit.edu 37 11 47834527 47834527 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:47834527T>C uc001ngm.2 - 15 1944 c.1859A>G c.(1858-1860)GAT>GGT p.D620G NUP160_uc009ylw.2_RNA NM_015231 NP_056046 Q12769 NU160_HUMAN nucleoporin 160kDa 620 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 AACTGACATATCCACAGTTAC 0.383 19 35 --- --- --- --- PASS OR4C3 256144 broad.mit.edu 37 11 48346768 48346768 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:48346768C>T uc010rhv.1 + 1 276 c.276C>T c.(274-276)TCC>TCT p.S92S NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, 65 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CCAACCTATCCTTTATTGACA 0.473 4 51 --- --- --- --- PASS OR4A47 403253 broad.mit.edu 37 11 48511133 48511133 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:48511133C>T uc010rhx.1 + 1 789 c.789C>T c.(787-789)TTC>TTT p.F263F NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, 263 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CTAGGACCTTCCCCATTGACA 0.428 31 111 --- --- --- --- PASS OR4A16 81327 broad.mit.edu 37 11 55111342 55111342 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:55111342C>T uc010rie.1 + 1 666 c.666C>T c.(664-666)TTC>TTT p.F222F NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 222 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 TCCTAAACTTCCTTAAAACTT 0.423 10 44 --- --- --- --- PASS OR4A15 81328 broad.mit.edu 37 11 55135728 55135728 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:55135728G>T uc010rif.1 + 1 369 c.369G>T c.(367-369)CAG>CAT p.Q123H NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 123 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TTTCCTTTCAGGGTTGTATGG 0.398 5 84 --- --- --- --- PASS OR4C6 219432 broad.mit.edu 37 11 55433044 55433044 + Missense_Mutation SNP G C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:55433044G>C uc001nht.3 + 3 667 c.402G>C c.(400-402)ATG>ATC p.M134I OR4C6_uc010rik.1_Missense_Mutation_p.M134I NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 134 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 CGATCATCATGAGTCCACGGG 0.517 17 31 --- --- --- --- PASS OR5D13 390142 broad.mit.edu 37 11 55541798 55541798 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:55541798G>A uc010ril.1 + 1 885 c.885G>A c.(883-885)AGG>AGA p.R295R NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 295 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) ACAGCCTTAGGAACAAAGATA 0.348 4 27 --- --- --- --- PASS OR5L2 26338 broad.mit.edu 37 11 55594965 55594965 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:55594965G>A uc001nhy.1 + 1 271 c.271G>A c.(271-273)GCC>ACC p.A91T NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 91 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) CAAGGACAAAGCCATCTCCTT 0.463 HNSCC(27;0.073) 60 60 --- --- --- --- PASS OR5I1 10798 broad.mit.edu 37 11 55703698 55703698 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:55703698G>A uc010ris.1 - 1 179 c.179C>T c.(178-180)CCC>CTC p.P60L NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 60 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AAAATACATGGGGGTTTGAAG 0.388 11 28 --- --- --- --- PASS OR10AG1 282770 broad.mit.edu 37 11 55735698 55735698 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:55735698C>T uc010rit.1 - 1 242 c.242G>A c.(241-243)GGA>GAA p.G81E NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 81 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) AGAAATATTTCCTTTCTGAGT 0.383 23 35 --- --- --- --- PASS OR10AG1 282770 broad.mit.edu 37 11 55735766 55735766 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:55735766G>A uc010rit.1 - 1 174 c.174C>T c.(172-174)TCC>TCT p.S58S NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 58 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) TTTCCAAAAGGGAAAAATTGC 0.348 11 50 --- --- --- --- PASS OR5AS1 219447 broad.mit.edu 37 11 55798016 55798016 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:55798016G>A uc010riw.1 + 1 122 c.122G>A c.(121-123)GGA>GAA p.G41E NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 41 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) ACTATGGTCGGAAATATACTC 0.328 11 28 --- --- --- --- PASS OR8I2 120586 broad.mit.edu 37 11 55861208 55861208 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:55861208A>G uc010rix.1 + 1 425 c.425A>G c.(424-426)AAC>AGC p.N142S NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, 142 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Esophageal squamous(21;0.00693) AAAGTGTCCAACTGGCTGGGA 0.448 16 45 --- --- --- --- PASS OR8I2 120586 broad.mit.edu 37 11 55861587 55861587 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:55861587C>T uc010rix.1 + 1 804 c.804C>T c.(802-804)ACC>ACT p.T268T NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, 268 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Esophageal squamous(21;0.00693) CATCGCTGACCCAGGCGCAGG 0.458 8 59 --- --- --- --- PASS OR8I2 120586 broad.mit.edu 37 11 55861617 55861617 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:55861617G>A uc010rix.1 + 1 834 c.834G>A c.(832-834)ACG>ACA p.T278T NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, 278 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Esophageal squamous(21;0.00693) TATTCTATACGATTGTCATTC 0.413 22 19 --- --- --- --- PASS OR8H2 390151 broad.mit.edu 37 11 55872687 55872687 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:55872687C>T uc010riy.1 + 1 169 c.169C>T c.(169-171)CAC>TAC p.H57Y NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 57 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) CCTCCAGCTTCACACTCCCAT 0.423 HNSCC(53;0.14) 33 141 --- --- --- --- PASS OR8H2 390151 broad.mit.edu 37 11 55872882 55872882 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:55872882C>T uc010riy.1 + 1 364 c.364C>T c.(364-366)CGC>TGC p.R122C NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) GGCCCATGATCGCTATGCAGC 0.458 HNSCC(53;0.14) 35 127 --- --- --- --- PASS OR8H2 390151 broad.mit.edu 37 11 55873182 55873182 + Missense_Mutation SNP C T T rs150100978 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:55873182C>T uc010riy.1 + 1 664 c.664C>T c.(664-666)CTC>TTC p.L222F NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 222 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) TGTGTTCATTCTCTTTACCAT 0.403 HNSCC(53;0.14) 15 70 --- --- --- --- PASS OR8J3 81168 broad.mit.edu 37 11 55904562 55904562 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:55904562C>T uc010riz.1 - 1 633 c.633G>A c.(631-633)ATG>ATA p.M211I NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 211 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) GAACTGTAATCATGGAAAAAA 0.358 23 34 --- --- --- --- PASS OR5T2 219464 broad.mit.edu 37 11 56000184 56000184 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:56000184C>T uc010rjc.1 - 1 478 c.478G>A c.(478-480)GAT>AAT p.D160N NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 160 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) ACATAGCGATCATAAGCCATT 0.428 16 63 --- --- --- --- PASS OR5T3 390154 broad.mit.edu 37 11 56020020 56020020 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:56020020C>T uc010rjd.1 + 1 345 c.345C>T c.(343-345)TTC>TTT p.F115F NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 115 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) TGGTCAATTTCCTGGCAAAAA 0.363 22 30 --- --- --- --- PASS OR5T1 390155 broad.mit.edu 37 11 56043953 56043953 + Missense_Mutation SNP C T T rs149057096 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:56043953C>T uc001nio.1 + 1 839 c.839C>T c.(838-840)TCG>TTG p.S280L NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 280 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) AGCTACACTTCGGACAATGAC 0.408 44 73 --- --- --- --- PASS OR8K3 219473 broad.mit.edu 37 11 56086200 56086200 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:56086200G>A uc010rjf.1 + 1 418 c.418G>A c.(418-420)GTA>ATA p.V140I NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, 140 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) GTCACGAAGGGTATGTCAGGT 0.418 21 42 --- --- --- --- PASS OR8K1 390157 broad.mit.edu 37 11 56113718 56113718 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:56113718C>T uc010rjg.1 + 1 204 c.204C>T c.(202-204)TTC>TTT p.F68F NM_001002907 NP_001002907 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, 68 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) TGTACTTTTTCCTTAGACATT 0.408 HNSCC(65;0.19) 17 62 --- --- --- --- PASS OR8K1 390157 broad.mit.edu 37 11 56114182 56114182 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:56114182C>T uc010rjg.1 + 1 668 c.668C>T c.(667-669)TCC>TTC p.S223F NM_001002907 NP_001002907 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, 223 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) GTTCTCATATCCTACATGTTT 0.398 HNSCC(65;0.19) 7 34 --- --- --- --- PASS OR8J1 219477 broad.mit.edu 37 11 56127806 56127806 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:56127806C>T uc010rjh.1 + 1 84 c.84C>T c.(82-84)TTC>TTT p.F28F NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, 28 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) TTCCCCTCTTCCTGGTCTTTC 0.488 15 70 --- --- --- --- PASS OR5R1 219479 broad.mit.edu 37 11 56185293 56185293 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:56185293C>T uc010rji.1 - 1 416 c.416G>A c.(415-417)AGA>AAA p.R139K NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, 139 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) AATGCAGACTCTTCTTGACAT 0.473 16 60 --- --- --- --- PASS OR5M8 219484 broad.mit.edu 37 11 56258004 56258004 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:56258004G>A uc001nix.1 - 1 843 c.843C>T c.(841-843)ATC>ATT p.I281I NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 281 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) TCAGCATAGGGATTACTGTGG 0.328 6 37 --- --- --- --- PASS OR5M8 219484 broad.mit.edu 37 11 56258235 56258235 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:56258235C>T uc001nix.1 - 1 612 c.612G>A c.(610-612)TGG>TGA p.W204* NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 204 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) AAGAAAGGTTCCAGCCAGCCA 0.398 8 41 --- --- --- --- PASS OR5M11 219487 broad.mit.edu 37 11 56309974 56309974 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:56309974G>A uc010rjl.1 - 1 760 c.760C>T c.(760-762)CTC>TTC p.L254F NM_001005245 NP_001005245 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, 254 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATGCAAAAGAGAGTCCCATAA 0.438 11 75 --- --- --- --- PASS OR5M1 390168 broad.mit.edu 37 11 56380053 56380053 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:56380053G>A uc001nja.1 - 1 926 c.926C>T c.(925-927)TCC>TTC p.S309F NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, 309 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 TTTATGAAAGGATTTTCCCCT 0.383 30 95 --- --- --- --- PASS OR5M1 390168 broad.mit.edu 37 11 56380724 56380724 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:56380724G>A uc001nja.1 - 1 255 c.255C>T c.(253-255)TTC>TTT p.F85F NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, 85 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 GTTCTGAGAGGAAATTGTGCA 0.448 35 60 --- --- --- --- PASS OR5AP2 338675 broad.mit.edu 37 11 56409132 56409132 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:56409132G>A uc001njb.1 - 1 784 c.784C>T c.(784-786)CTC>TTC p.L262F NM_001002925 NP_001002925 Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, 262 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 TACATGAAGAGGATTGTTCCA 0.463 35 37 --- --- --- --- PASS OR9G9 504191 broad.mit.edu 37 11 56467982 56467982 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:56467982G>A uc010rjn.1 + 1 119 c.119G>A c.(118-120)GGA>GAA p.G40E NM_001013358 NP_001013376 P0C7N8 OR9G9_HUMAN olfactory receptor, family 9, subfamily G, 40 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ACTGTGGTAGGAAATAGCACC 0.493 5 45 --- --- --- --- PASS APLNR 187 broad.mit.edu 37 11 57004475 57004475 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:57004475C>T uc001njo.2 - 1 453 c.4G>A c.(4-6)GAG>AAG p.E2K APLNR_uc001njn.3_RNA NM_005161 NP_005152 P35414 APJ_HUMAN apelin receptor 2 Extracellular (Potential). integral to plasma membrane G-protein coupled receptor activity lung(5)|ovary(1) 6 CCACCTTCCTCCATGCTGGGG 0.567 14 29 --- --- --- --- PASS P2RX3 5024 broad.mit.edu 37 11 57118326 57118326 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:57118326G>A uc001nju.2 + 8 872 c.796G>A c.(796-798)GAC>AAC p.D266N NM_002559 NP_002550 P56373 P2RX3_HUMAN purinergic receptor P2X3 266 Extracellular (Potential). positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity 0 CACCCGGCTCGACAGCGTTTC 0.567 5 30 --- --- --- --- PASS OR9Q1 219956 broad.mit.edu 37 11 57947718 57947718 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:57947718G>A uc001nmj.2 + 3 1118 c.802G>A c.(802-804)GAG>AAG p.E268K NM_001005212 NP_001005212 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, 268 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.222) TCAGTCTTCGGAGAAGAATCG 0.507 23 37 --- --- --- --- PASS OR9Q2 219957 broad.mit.edu 37 11 57958765 57958765 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:57958765C>T uc010rka.1 + 1 803 c.803C>T c.(802-804)TCC>TTC p.S268F NM_001005283 NP_001005283 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, 268 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1)|central_nervous_system(1) 4 Breast(21;0.0589) GGCCAGTCCTCCGAGGGAGAC 0.557 10 49 --- --- --- --- PASS OR10W1 81341 broad.mit.edu 37 11 58035306 58035306 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:58035306G>A uc001nmq.1 - 1 427 c.25C>T c.(25-27)CCC>TCC p.P9S NM_207374 NP_997257 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, 9 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) GGGCAGGAGGGATAGGCCAGG 0.453 13 19 --- --- --- --- PASS OR5B12 390191 broad.mit.edu 37 11 58206868 58206868 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:58206868C>T uc010rkh.1 - 1 757 c.757G>A c.(757-759)GGA>AGA p.G253R NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, 253 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) ATAAAGATTCCTGTCCCATAA 0.443 18 26 --- --- --- --- PASS MPEG1 219972 broad.mit.edu 37 11 58978323 58978323 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:58978323G>A uc001nnu.3 - 1 2172 c.2016C>T c.(2014-2016)ATC>ATT p.I672I NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN macrophage expressed gene 1 precursor 672 Helical; (Potential). integral to membrane ovary(1)|skin(1) 2 all_epithelial(135;0.125) TGGCCAAGGTGATAACAACAG 0.552 25 31 --- --- --- --- PASS MPEG1 219972 broad.mit.edu 37 11 58979667 58979667 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:58979667G>A uc001nnu.3 - 1 828 c.672C>T c.(670-672)TCC>TCT p.S224S NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN macrophage expressed gene 1 precursor 224 MACPF.|Extracellular (Potential). integral to membrane ovary(1)|skin(1) 2 all_epithelial(135;0.125) CTTGGAGGAAGGAGGCCCTGA 0.552 6 11 --- --- --- --- PASS OR5AN1 390195 broad.mit.edu 37 11 59132298 59132298 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:59132298C>T uc010rks.1 + 1 367 c.367C>T c.(367-369)CGT>TGT p.R123C NM_001004729 NP_001004729 Q8NGI8 O5AN1_HUMAN olfactory receptor, family 5, subfamily AN, 123 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GGCTTATGATCGTTATGCTGC 0.453 33 39 --- --- --- --- PASS OR4D10 390197 broad.mit.edu 37 11 59245164 59245164 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:59245164G>A uc001nnz.1 + 1 262 c.262G>A c.(262-264)GAA>AAA p.E88K NM_001004705 NP_001004705 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, 88 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 CCTTCTGTCTGAAAGAAAGAC 0.433 49 62 --- --- --- --- PASS MS4A6E 245802 broad.mit.edu 37 11 60105331 60105331 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:60105331G>A uc001npd.2 + 2 279 c.265G>A c.(265-267)GAA>AAA p.E89K NM_139249 NP_640342 Q96DS6 M4A6E_HUMAN membrane-spanning 4-domains, subfamily A, member 89 Extracellular (Potential). integral to membrane receptor activity 0 TAAGTTGGACGAAAAGGATAT 0.453 9 66 --- --- --- --- PASS MS4A14 84689 broad.mit.edu 37 11 60183468 60183468 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:60183468C>T uc001npj.2 + 5 1592 c.1027C>T c.(1027-1029)CAT>TAT p.H343Y MS4A14_uc001npi.2_Missense_Mutation_p.H231Y|MS4A14_uc001npn.2_Missense_Mutation_p.H81Y|MS4A14_uc001npk.2_Missense_Mutation_p.H326Y|MS4A14_uc001npl.2_Missense_Mutation_p.H81Y|MS4A14_uc001npm.2_Missense_Mutation_p.H81Y NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 343 integral to membrane receptor activity breast(1) 1 TACATCATCCCATGTCAAACA 0.338 12 35 --- --- --- --- PASS ZP1 22917 broad.mit.edu 37 11 60635145 60635145 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:60635145C>T uc001nqd.2 + 1 131 c.111C>T c.(109-111)CTC>CTT p.L37L ZP1_uc001nqe.2_5'Flank NM_207341 NP_997224 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 precursor 37 Extracellular (Potential). single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix 0 TCCCAGGCCTCCGGCACAGCT 0.662 6 14 --- --- --- --- PASS DAGLA 747 broad.mit.edu 37 11 61511223 61511223 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:61511223C>T uc001nsa.2 + 20 2502 c.2391C>T c.(2389-2391)TCC>TCT p.S797S NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 797 Cytoplasmic (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) CGCGCCGCTCCTCAGGCTTCC 0.672 11 41 --- --- --- --- PASS FADS1 3992 broad.mit.edu 37 11 61578274 61578274 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:61578274G>T uc010rlm.1 - 5 992 c.864C>A c.(862-864)GAC>GAA p.D288E FADS1_uc001nsh.2_Missense_Mutation_p.D147E|FADS1_uc010rln.1_Missense_Mutation_p.D147E NM_013402 NP_037534 O60427 FADS1_HUMAN fatty acid desaturase 1 231 Cytoplasmic (Potential). cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport endoplasmic reticulum membrane|integral to membrane|microsome C-5 sterol desaturase activity|heme binding|protein binding central_nervous_system(1) 1 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GCATGTTGATGTCTGGGTCTT 0.562 32 52 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62292480 62292480 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:62292480G>A uc001ntl.2 - 5 9709 c.9409C>T c.(9409-9411)CCA>TCA p.P3137S AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 3137 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TCCACATCTGGGGCATTAATA 0.468 88 112 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62293705 62293705 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:62293705G>A uc001ntl.2 - 5 8484 c.8184C>T c.(8182-8184)TCC>TCT p.S2728S AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2728 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CTTTAGGAAGGGAAACATCCA 0.478 59 76 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62295384 62295384 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:62295384C>T uc001ntl.2 - 5 6805 c.6505G>A c.(6505-6507)GGG>AGG p.G2169R AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2169 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) AACTTGGGCCCTTTCAACTTT 0.483 63 113 --- --- --- --- PASS GANAB 23193 broad.mit.edu 37 11 62396262 62396262 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:62396262C>A uc001nub.2 - 17 2192 c.2159G>T c.(2158-2160)CGG>CTG p.R720L GANAB_uc001ntz.2_5'Flank|GANAB_uc001nua.2_Missense_Mutation_p.R742L|GANAB_uc001nuc.2_Missense_Mutation_p.R623L|GANAB_uc010rma.1_Missense_Mutation_p.R628L|GANAB_uc010rmb.1_Missense_Mutation_p.R606L NM_198334 NP_938148 Q14697 GANAB_HUMAN neutral alpha-glucosidase AB isoform 2 720 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 AATGCCTTCCCGATGGGCCTG 0.532 5 163 --- --- --- --- PASS MARK2 2011 broad.mit.edu 37 11 63676648 63676648 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:63676648C>T uc001nxw.2 + 19 2885 c.2306C>T c.(2305-2307)TCG>TTG p.S769L MARK2_uc001nxx.2_Missense_Mutation_p.S700L|MARK2_uc001nxy.2_Missense_Mutation_p.S690L|MARK2_uc001nxv.3_Missense_Mutation_p.S705L|MARK2_uc001nxz.3_Missense_Mutation_p.S726L|MARK2_uc009yoy.2_Missense_Mutation_p.S680L NM_001039469 NP_001034558 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 769 KA1. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 AAGCGGATATCGGGCACCTCC 0.502 13 32 --- --- --- --- PASS STIP1 10963 broad.mit.edu 37 11 63963138 63963138 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:63963138C>T uc001nyk.1 + 5 672 c.525C>T c.(523-525)ATC>ATT p.I175I STIP1_uc001nyj.2_Silent_p.I175I|STIP1_uc010rnb.1_Silent_p.I151I NM_006819 NP_006810 P31948 STIP1_HUMAN stress-induced-phosphoprotein 1 175 axon guidance|response to stress Golgi apparatus|nucleus ovary(2)|liver(1) 3 ATCCCCGGATCATGACCACTC 0.443 9 26 --- --- --- --- PASS CCDC88B 283234 broad.mit.edu 37 11 64109193 64109193 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:64109193G>A uc001nzy.2 + 7 698 c.654G>A c.(652-654)CGG>CGA p.R218R CCDC88B_uc009ypo.1_Silent_p.R215R|CCDC88B_uc001nzz.1_5'Flank NM_032251 NP_115627 A6NC98 CC88B_HUMAN coiled-coil domain containing 88 218 microtubule cytoskeleton organization cytoplasm microtubule binding ovary(3)|skin(1) 4 AGCTGGCACGGGAGCGTGACC 0.662 8 12 --- --- --- --- PASS CCDC88B 283234 broad.mit.edu 37 11 64121476 64121476 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:64121476G>A uc001nzy.2 + 24 3977 c.3933G>A c.(3931-3933)AAG>AAA p.K1311K CCDC88B_uc009ypo.1_Silent_p.K1308K|CCDC88B_uc001oaa.2_Silent_p.K463K|CCDC88B_uc001oab.1_Silent_p.K142K|CCDC88B_uc001oac.2_Intron NM_032251 NP_115627 A6NC98 CC88B_HUMAN coiled-coil domain containing 88 1311 microtubule cytoskeleton organization cytoplasm microtubule binding ovary(3)|skin(1) 4 TTGCCCCCAGGAAGGGCAGCT 0.473 4 9 --- --- --- --- PASS RPS6KA4 8986 broad.mit.edu 37 11 64129364 64129364 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:64129364G>A uc001oae.2 + 8 879 c.796G>A c.(796-798)GGG>AGG p.G266R RPS6KA4_uc001oad.2_Missense_Mutation_p.G266R|RPS6KA4_uc010rnl.1_Missense_Mutation_p.G203R|RPS6KA4_uc001oaf.2_Missense_Mutation_p.G266R|RPS6KA4_uc009ypp.2_Missense_Mutation_p.G266R NM_003942 NP_003933 O75676 KS6A4_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 266 Protein kinase 1. axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity lung(3)|ovary(1)|breast(1) 5 CCCTCGGATCGGGCCCGTGGC 0.682 7 28 --- --- --- --- PASS RPS6KA4 8986 broad.mit.edu 37 11 64138829 64138829 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:64138829G>A uc001oae.2 + 17 2279 c.2196G>A c.(2194-2196)AAG>AAA p.K732K RPS6KA4_uc001oad.2_Silent_p.K726K|RPS6KA4_uc010rnl.1_Silent_p.K669K|RPS6KA4_uc001oaf.2_Silent_p.K725K|RPS6KA4_uc009ypp.2_Silent_p.K484K NM_003942 NP_003933 O75676 KS6A4_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 732 axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity lung(3)|ovary(1)|breast(1) 5 AGCGGCGGAAGCAGAAGCTGC 0.706 9 15 --- --- --- --- PASS NRXN2 9379 broad.mit.edu 37 11 64390376 64390376 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:64390376C>T uc001oap.2 - 6 1395 c.884G>A c.(883-885)GGG>GAG p.G295E NRXN2_uc001oar.2_Missense_Mutation_p.G1341E|NRXN2_uc001oas.2_Missense_Mutation_p.G1271E|NRXN2_uc001oao.2_5'UTR|NRXN2_uc001oaq.2_Missense_Mutation_p.G1008E NM_138734 NP_620063 P58401 NRX2B_HUMAN neurexin 2 isoform beta precursor 295 Extracellular (Potential).|Laminin G-like. cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 CGGCCCCTCCCCCACCAGGCG 0.562 3 8 --- --- --- --- PASS NRXN2 9379 broad.mit.edu 37 11 64434783 64434783 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:64434783G>A uc001oar.2 - 10 2176 c.1737C>T c.(1735-1737)TCC>TCT p.S579S NRXN2_uc001oas.2_Silent_p.S548S|NRXN2_uc001oaq.2_Silent_p.S246S NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 CCTTGCGGCTGGATGCCCGCA 0.607 36 44 --- --- --- --- PASS NRXN2 9379 broad.mit.edu 37 11 64436053 64436053 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:64436053G>A uc001oar.2 - 9 1660 c.1221C>T c.(1219-1221)ATC>ATT p.I407I NRXN2_uc001oas.2_Silent_p.I376I|NRXN2_uc001oaq.2_Silent_p.I74I NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor 221 Extracellular (Potential).|Laminin G-like. cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 TGGTGGTCAGGATCCCGTCCA 0.577 32 51 --- --- --- --- PASS PYGM 5837 broad.mit.edu 37 11 64527235 64527235 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:64527235C>T uc001oax.3 - 1 953 c.136G>A c.(136-138)GTG>ATG p.V46M PYGM_uc001oay.3_Missense_Mutation_p.V46M NM_005609 NP_005600 P11217 PYGM_HUMAN muscle glycogen phosphorylase isoform 1 46 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding ovary(2) 2 Pyridoxal Phosphate(DB00114) GGGGTGGCCACATTGCGGTCC 0.582 19 113 --- --- --- --- PASS EHD1 10938 broad.mit.edu 37 11 64645802 64645802 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:64645802G>A uc001obu.1 - 1 390 c.135C>T c.(133-135)TTC>TTT p.F45F EHD1_uc001obv.1_Silent_p.F45F|EHD1_uc010rnq.1_Silent_p.F59F NM_006795 NP_006786 Q9H4M9 EHD1_HUMAN EH-domain containing 1 45 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding 0 CGGGCGAGTGGAACTCGTGGA 0.632 5 32 --- --- --- --- PASS SNX15 29907 broad.mit.edu 37 11 64800004 64800004 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:64800004C>T uc001oci.3 + 6 890 c.237C>T c.(235-237)TTC>TTT p.F79F SNX15_uc009ypy.2_Silent_p.F79F|SNX15_uc001ocj.2_Silent_p.F79F|SNX15_uc001ock.2_Silent_p.F79F NM_013306 NP_037438 Q9NRS6 SNX15_HUMAN sorting nexin 15 isoform A 79 PX. cell communication|intracellular protein transport cytoplasmic vesicle membrane|cytosol phosphatidylinositol binding|protein transporter activity ovary(1) 1 TCCCTGCTTTCCCCCGGGCCC 0.627 10 21 --- --- --- --- PASS NAALADL1 10004 broad.mit.edu 37 11 64822123 64822123 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:64822123C>T uc001ocn.2 - 5 707 c.691G>A c.(691-693)GAA>AAA p.E231K NAALADL1_uc010rnw.1_5'UTR NM_005468 NP_005459 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic 231 Extracellular (Potential). proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity 0 GGAAAGGTTTCGTCGGGTGAG 0.612 OREG0032001 type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 7 11 --- --- --- --- PASS C11orf2 738 broad.mit.edu 37 11 64876349 64876349 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:64876349C>T uc001ocr.1 + 5 1446 c.1406C>T c.(1405-1407)GCC>GTC p.A469V TM7SF2_uc001oct.2_5'Flank|TM7SF2_uc010rny.1_5'Flank|TM7SF2_uc001ocu.2_5'Flank|C11orf2_uc001ocs.1_Missense_Mutation_p.A345V NM_013265 NP_037397 Q9UID3 FFR_HUMAN chromosome 11 open reading frame 2 469 lipid transport|protein transport Golgi apparatus|integral to membrane 0 CTTTTCACCGCCAAAGAGGTG 0.577 9 23 --- --- --- --- PASS POLA2 23649 broad.mit.edu 37 11 65062097 65062097 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:65062097C>T uc001odj.2 + 15 1776 c.1434C>T c.(1432-1434)TTC>TTT p.F478F POLA2_uc010rod.1_Silent_p.F270F|POLA2_uc001odk.2_Silent_p.F175F NM_002689 NP_002680 Q14181 DPOA2_HUMAN DNA-directed DNA polymerase alpha 2 478 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding 0 Dacarbazine(DB00851) ATCTGCTTTTCCACCTGGGGG 0.517 13 27 --- --- --- --- PASS MALAT1 378938 broad.mit.edu 37 11 65266596 65266596 + RNA SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:65266596C>T uc010roh.1 + 1 c.1364C>T MALAT1_uc001odz.2_5'Flank NR_002819 Homo sapiens clone alpha1 mRNA sequence. 0 GTTTTTTTCTCTTTGAAAGAT 0.423 12 18 --- --- --- --- PASS MAP3K11 4296 broad.mit.edu 37 11 65373256 65373256 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:65373256G>A uc001oew.2 - 8 2300 c.1807C>T c.(1807-1809)CCT>TCT p.P603S MAP3K11_uc001oev.2_Missense_Mutation_p.P19S|MAP3K11_uc010rol.1_Missense_Mutation_p.P346S|MAP3K11_uc001oex.1_Missense_Mutation_p.P110S NM_002419 NP_002410 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 603 Pro-rich. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|lung(1)|central_nervous_system(1)|skin(1) 6 GGTGTGGAAGGAGATCCTAAG 0.597 7 25 --- --- --- --- PASS RELA 5970 broad.mit.edu 37 11 65421986 65421986 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:65421986C>T uc001ofg.2 - 11 1659 c.1519G>A c.(1519-1521)GCC>ACC p.A507T RELA_uc001ofh.2_Missense_Mutation_p.A504T|RELA_uc010ron.1_Missense_Mutation_p.A518T|RELA_uc009yqr.2_Missense_Mutation_p.A454T|RELA_uc001ofe.2_3'UTR|RELA_uc001off.2_Intron NM_021975 NP_068810 Q04206 TF65_HUMAN v-rel reticuloendotheliosis viral oncogene 507 anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|transcription factor complex activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding lung(3)|ovary(1) 4 GGCCTCTGGGCCCCTGTCACT 0.622 16 12 --- --- --- --- PASS RELA 5970 broad.mit.edu 37 11 65421987 65421987 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:65421987C>T uc001ofg.2 - 11 1658 c.1518G>A c.(1516-1518)GGG>GGA p.G506G RELA_uc001ofh.2_Silent_p.G503G|RELA_uc010ron.1_Silent_p.G517G|RELA_uc009yqr.2_Silent_p.G453G|RELA_uc001ofe.2_3'UTR|RELA_uc001off.2_Intron NM_021975 NP_068810 Q04206 TF65_HUMAN v-rel reticuloendotheliosis viral oncogene 506 anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|transcription factor complex activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding lung(3)|ovary(1) 4 GCCTCTGGGCCCCTGTCACTA 0.622 16 12 --- --- --- --- PASS RELA 5970 broad.mit.edu 37 11 65425808 65425808 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:65425808G>A uc001ofg.2 - 8 967 c.827C>T c.(826-828)TCC>TTC p.S276F RELA_uc001ofh.2_Missense_Mutation_p.S273F|RELA_uc010ron.1_Missense_Mutation_p.S287F|RELA_uc009yqr.2_Missense_Mutation_p.S223F|RELA_uc001ofe.2_Missense_Mutation_p.S276F|RELA_uc001off.2_Missense_Mutation_p.S276F|RELA_uc009yqs.1_Intron NM_021975 NP_068810 Q04206 TF65_HUMAN v-rel reticuloendotheliosis viral oncogene 276 RHD. S->C: Loss of phosphorylation. anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|transcription factor complex activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding lung(3)|ovary(1) 4 CTCCCGGTCGGAAGGCCGCCG 0.637 3 6 --- --- --- --- PASS KAT5 10524 broad.mit.edu 37 11 65480520 65480520 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:65480520G>A uc001ofi.2 + 4 526 c.276G>A c.(274-276)GAG>GAA p.E92E KAT5_uc001ofj.2_Silent_p.E92E|KAT5_uc001ofk.2_Silent_p.E125E|KAT5_uc010roo.1_Silent_p.E125E|KAT5_uc001ofl.2_5'UTR NM_006388 NP_006379 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 isoform 2 92 androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity 0 GCTCTCCAGAGAGAGAGGTGG 0.572 10 48 --- --- --- --- PASS NPAS4 266743 broad.mit.edu 37 11 66192157 66192157 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:66192157C>T uc001ohx.1 + 7 1972 c.1796C>T c.(1795-1797)TCT>TTT p.S599F NPAS4_uc010rpc.1_Missense_Mutation_p.S389F NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 599 transcription, DNA-dependent DNA binding|signal transducer activity 0 GGCCCCCTCTCTGTGGATGTC 0.577 26 41 --- --- --- --- PASS DPP3 10072 broad.mit.edu 37 11 66260322 66260322 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:66260322C>T uc001oig.1 + 10 1186 c.1124C>T c.(1123-1125)TCC>TTC p.S375F DPP3_uc001oif.1_Missense_Mutation_p.S375F|DPP3_uc010rpe.1_Missense_Mutation_p.S364F NM_005700 NP_005691 Q9NY33 DPP3_HUMAN dipeptidyl peptidase III 375 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity ovary(1)|skin(1) 2 GACTTCACCTCCCTGGATGTT 0.617 10 65 --- --- --- --- PASS ACTN3 89 broad.mit.edu 37 11 66330597 66330597 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:66330597G>A uc001oio.1 + 22 2657 c.2639G>A c.(2638-2640)GGG>GAG p.G880E ACTN3_uc010rpi.1_RNA NM_001104 NP_001095 Q08043 ACTN3_HUMAN actinin, alpha 3 880 focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle 0 AAGGGATCCGGGGCCCCGGCT 0.632 16 11 --- --- --- --- PASS CARNS1 57571 broad.mit.edu 37 11 67191509 67191509 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:67191509G>A uc009yrp.2 + 9 2373 c.1921G>A c.(1921-1923)GCG>ACG p.A641T PPP1CA_uc001okx.1_5'Flank|CARNS1_uc001olc.3_Missense_Mutation_p.A780T NM_020811 NP_065862 A5YM72 CRNS1_HUMAN ATP-grasp domain containing 1 641 ATP-grasp. carnosine biosynthetic process ATP binding|carnosine synthase activity|metal ion binding 0 CACTGAGACGGCGGCCTGCAT 0.642 7 10 --- --- --- --- PASS GPR152 390212 broad.mit.edu 37 11 67220115 67220115 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:67220115G>A uc001olm.2 - 1 86 c.81C>T c.(79-81)CCC>CCT p.P27P uc009yrw.1_RNA|CABP4_uc001oln.2_5'UTR|CABP4_uc001olo.2_5'Flank NM_206997 NP_996880 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 27 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) AGCCACCTTGGGGGTAGGAGT 0.652 5 10 --- --- --- --- PASS CABP2 51475 broad.mit.edu 37 11 67287398 67287398 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:67287398C>T uc001omc.1 - 6 605 c.503G>A c.(502-504)GGG>GAG p.G168E CABP2_uc001omd.1_Missense_Mutation_p.G111E|CABP2_uc001ome.1_Missense_Mutation_p.G174E NM_016366 NP_057450 Q9NPB3 CABP2_HUMAN calcium binding protein 2 isoform 1 168 EF-hand 3.|2 (Potential). signal transduction Golgi apparatus|perinuclear region of cytoplasm|plasma membrane calcium ion binding skin(1) 1 GCGGCCGTCCCCATTGGTGTC 0.687 4 8 --- --- --- --- PASS GSTP1 2950 broad.mit.edu 37 11 67353902 67353902 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:67353902C>T uc001omf.2 + 7 736 c.487C>T c.(487-489)CAT>TAT p.H163Y GSTP1_uc001omg.1_Missense_Mutation_p.H144Y NM_000852 NP_000843 P09211 GSTP1_HUMAN glutathione transferase 163 GST C-terminal. anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process cytosol|protein complex dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding ovary(1) 1 Ethacrynic acid(DB00903)|Glutathione(DB00143) GCTGCTGATCCATGAGGTCCT 0.652 6 17 --- --- --- --- PASS ALDH3B1 221 broad.mit.edu 37 11 67782875 67782875 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:67782875C>T uc010rpy.1 + 2 224 c.108C>T c.(106-108)TTC>TTT p.F36F ALDH3B1_uc001omy.1_Silent_p.F36F|ALDH3B1_uc001omz.2_Silent_p.F36F|ALDH3B1_uc001ona.2_Silent_p.F36F|ALDH3B1_uc001onb.2_5'Flank NM_001161473 NP_001154945 P43353 AL3B1_HUMAN aldehyde dehydrogenase 3B1 isoform a 36 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase 0 NADH(DB00157) TGGGCCGCTTCCTGCAAGAAA 0.697 3 4 --- --- --- --- PASS ALDH3B1 221 broad.mit.edu 37 11 67789267 67789267 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:67789267G>A uc010rpy.1 + 8 992 c.876G>A c.(874-876)CAG>CAA p.Q292Q ALDH3B1_uc001omz.2_Silent_p.Q292Q|ALDH3B1_uc001ona.2_Silent_p.Q255Q|ALDH3B1_uc001onb.2_RNA NM_001161473 NP_001154945 P43353 AL3B1_HUMAN aldehyde dehydrogenase 3B1 isoform a 292 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase 0 NADH(DB00157) AACAGTTCCAGCGGCTGCGGG 0.647 6 26 --- --- --- --- PASS NDUFS8 4728 broad.mit.edu 37 11 67800726 67800726 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:67800726C>T uc001onc.2 + 5 455 c.348C>T c.(346-348)CTC>CTT p.L116L NDUFS8_uc010rpz.1_Silent_p.L116L|NDUFS8_uc009ysb.1_Intron|NDUFS8_uc009ysc.1_Silent_p.L116L NM_002496 NP_002487 O00217 NDUS8_HUMAN NADH dehydrogenase ubiquinone Fe-S 8 precursor 116 4Fe-4S ferredoxin-type 1. mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity skin(1) 1 NADH(DB00157) CCTGCAAGCTCTGCGAGGCCA 0.622 4 6 --- --- --- --- PASS CHKA 1119 broad.mit.edu 37 11 67833299 67833299 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:67833299G>A uc001onj.2 - 9 1293 c.1079C>T c.(1078-1080)CCT>CTT p.P360L CHKA_uc001onk.2_Missense_Mutation_p.P342L NM_001277 NP_001268 P35790 CHKA_HUMAN choline kinase alpha isoform a 360 lipid transport|phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity ovary(1)|central_nervous_system(1) 2 Choline(DB00122) TCTGAAAAAAGGGTATTTTTC 0.373 10 20 --- --- --- --- PASS SUV420H1 51111 broad.mit.edu 37 11 67925262 67925262 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:67925262G>A uc001onm.1 - 11 2807 c.2551C>T c.(2551-2553)CCT>TCT p.P851S SUV420H1_uc009yse.1_Missense_Mutation_p.P437S|SUV420H1_uc001onn.1_Missense_Mutation_p.P679S|SUV420H1_uc009ysf.2_Missense_Mutation_p.P611S NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 851 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 GGAGGAAGAGGAATAAAATCG 0.393 11 20 --- --- --- --- PASS LRP5 4041 broad.mit.edu 37 11 68115552 68115552 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:68115552C>T uc001ont.2 + 2 404 c.329C>T c.(328-330)CCC>CTC p.P110L LRP5_uc009ysg.2_5'UTR NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 110 Beta-propeller 1.|LDL-receptor class B 1.|Extracellular (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 CTGGTCTCTCCCGACGGCCTC 0.632 34 40 --- --- --- --- PASS LRP5 4041 broad.mit.edu 37 11 68115652 68115652 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:68115652G>A uc001ont.2 + 2 504 c.429G>A c.(427-429)AAG>AAA p.K143K LRP5_uc009ysg.2_5'UTR NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 143 Beta-propeller 1.|LDL-receptor class B 2.|Extracellular (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 CATCCCGGAAGGTGCTCTTCT 0.662 23 38 --- --- --- --- PASS TPCN2 219931 broad.mit.edu 37 11 68822765 68822765 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:68822765C>A uc001oos.2 + 4 490 c.374C>A c.(373-375)ACC>AAC p.T125N TPCN2_uc009ysk.1_RNA|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Missense_Mutation_p.T125N NM_139075 NP_620714 Q8NHX9 TPC2_HUMAN two pore segment channel 2 125 Extracellular (Potential). cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TGCGGCCTGACCGAGAGTGTC 0.662 4 15 --- --- --- --- PASS MYEOV 26579 broad.mit.edu 37 11 69063187 69063187 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:69063187G>A uc001oov.2 + 3 720 c.270G>A c.(268-270)GTG>GTA p.V90V MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Silent_p.V90V|MYEOV_uc001oow.2_Silent_p.V32V NM_138768 NP_620123 Q96EZ4 MYEOV_HUMAN myeloma overexpressed 90 0 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) GTGTTGCGGTGAGAGGAGCAT 0.637 9 41 --- --- --- --- PASS FGF3 2248 broad.mit.edu 37 11 69631136 69631136 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:69631136G>A uc001oph.2 - 2 767 c.276C>T c.(274-276)TTC>TTT p.F92F NM_005247 NP_005238 P11487 FGF3_HUMAN fibroblast growth factor 3 precursor 92 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation extracellular region growth factor activity ovary(1)|lung(1) 2 LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278) ACCGCCCGGAGAAGAGACCCC 0.612 21 35 --- --- --- --- PASS ANO1 55107 broad.mit.edu 37 11 70033894 70033894 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:70033894C>T uc001opj.2 + 26 3050 c.2745C>T c.(2743-2745)ATC>ATT p.I915I ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Silent_p.I624I|ANO1_uc010rql.1_Silent_p.I89I NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 915 Cytoplasmic (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 TCCCGGACATCCCCAAGGACA 0.582 7 15 --- --- --- --- PASS SHANK2 22941 broad.mit.edu 37 11 70319386 70319386 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:70319386G>A uc001oqc.2 - 22 5216 c.5138C>T c.(5137-5139)TCG>TTG p.S1713L SHANK2_uc010rqn.1_Missense_Mutation_p.S1125L|SHANK2_uc001opz.2_Missense_Mutation_p.S1118L|uc009ysn.1_Intron|SHANK2_uc001opy.2_Missense_Mutation_p.S49L NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1334 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CTCTGTTGGCGAGACCACAGG 0.632 6 22 --- --- --- --- PASS FCHSD2 9873 broad.mit.edu 37 11 72712089 72712089 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:72712089G>A uc009ytl.2 - 5 554 c.333C>T c.(331-333)TTC>TTT p.F111F FCHSD2_uc010rrg.1_Intron|FCHSD2_uc001oth.3_Silent_p.F55F|FCHSD2_uc001oti.2_Silent_p.F70F NM_014824 NP_055639 O94868 FCSD2_HUMAN FCH and double SH3 domains 2 111 protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) GCTCAGAAATGAAGTTTTTAT 0.363 9 15 --- --- --- --- PASS ARHGEF17 9828 broad.mit.edu 37 11 73076728 73076728 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:73076728G>A uc001otu.2 + 20 5752 c.5731G>A c.(5731-5733)GAT>AAT p.D1911N NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1911 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity 0 CCCAGGCTCGGATGCCATCAT 0.637 8 13 --- --- --- --- PASS MAP6 4135 broad.mit.edu 37 11 75298965 75298965 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:75298965C>T uc001owu.2 - 4 1646 c.1581G>A c.(1579-1581)AAG>AAA p.K527K NM_033063 NP_149052 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 isoform 1 527 Pro-rich. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding 0 Ovarian(111;0.11) GACCTTGGTCCTTGACTGGTG 0.483 7 64 --- --- --- --- PASS MOGAT2 80168 broad.mit.edu 37 11 75438599 75438599 + Silent SNP G C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:75438599G>C uc010rru.1 + 3 390 c.390G>C c.(388-390)TCG>TCC p.S130S MOGAT2_uc001oww.1_Silent_p.S130S|MOGAT2_uc010rrv.1_Silent_p.S48S NM_025098 NP_079374 Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 130 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity ovary(2) 2 Ovarian(111;0.103) GCTTCTCTTCGATCTTCCCCG 0.572 21 26 --- --- --- --- PASS DGAT2 84649 broad.mit.edu 37 11 75501768 75501768 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:75501768C>T uc001oxa.2 + 4 680 c.421C>T c.(421-423)CCC>TCC p.P141S DGAT2_uc001oxb.2_Missense_Mutation_p.P98S NM_032564 NP_115953 Q96PD7 DGAT2_HUMAN diacylglycerol O-acyltransferase 2 141 Cytoplasmic (Potential). glycerol metabolic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity 0 Ovarian(111;0.103) AGACTACTTTCCCATCCAGGT 0.527 12 19 --- --- --- --- PASS C11orf30 56946 broad.mit.edu 37 11 76255758 76255758 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:76255758C>T uc001oxl.2 + 19 3308 c.3165C>T c.(3163-3165)CTC>CTT p.L1055L C11orf30_uc001oxm.2_Silent_p.L957L|C11orf30_uc010rsb.1_Silent_p.L1070L|C11orf30_uc010rsc.1_Silent_p.L1056L|C11orf30_uc001oxn.2_Silent_p.L1056L|C11orf30_uc010rsd.1_Silent_p.L964L|C11orf30_uc001oxo.1_Silent_p.L409L|C11orf30_uc010rse.1_Silent_p.L302L|C11orf30_uc001oxp.2_Silent_p.L155L NM_020193 NP_064578 Q7Z589 EMSY_HUMAN EMSY protein 1055 Gln-rich. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 CGCAGCAGCTCCCTAAACTGC 0.547 28 71 --- --- --- --- PASS TSKU 25987 broad.mit.edu 37 11 76506861 76506861 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:76506861C>T uc001oxt.2 + 2 373 c.201C>T c.(199-201)TCC>TCT p.S67S NM_015516 NP_056331 Q8WUA8 TSK_HUMAN tsukushin precursor 67 LRR 1. extracellular region 0 Ovarian(111;0.112) ACCTGTCCTCCAACCGGCTGG 0.632 17 23 --- --- --- --- PASS MYO7A 4647 broad.mit.edu 37 11 76867051 76867051 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:76867051G>A uc001oyb.2 + 5 656 c.384G>A c.(382-384)GGG>GGA p.G128G MYO7A_uc010rsl.1_Silent_p.G128G|MYO7A_uc010rsm.1_Silent_p.G117G|MYO7A_uc001oyc.2_Silent_p.G128G NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 128 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 AGAAGATTGGGGAGATGCCCC 0.562 5 16 --- --- --- --- PASS TMEM126B 55863 broad.mit.edu 37 11 85347169 85347169 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:85347169A>G uc001pao.2 + 6 751 c.499A>G c.(499-501)ATG>GTG p.M167V TMEM126B_uc001pap.2_Missense_Mutation_p.M167V|TMEM126B_uc001paq.1_3'UTR NM_018480 NP_060950 Q8IUX1 T126B_HUMAN transmembrane protein 126B 197 integral to membrane 0 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) AATGAAATTAATGGCGATTCC 0.338 9 38 --- --- --- --- PASS FOLH1B 219595 broad.mit.edu 37 11 89424219 89424219 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:89424219G>A uc001pda.2 + 11 1395 c.869G>A c.(868-870)CGA>CAA p.R290Q NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B 290 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity ovary(3)|skin(2)|central_nervous_system(1) 6 TTTGATTGTCGAGATTATGCT 0.373 10 45 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92087415 92087415 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:92087415C>T uc001pdj.3 + 1 2154 c.2137C>T c.(2137-2139)CTT>TTT p.L713F NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 713 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) AGATGGATTTCTTGACTTTTA 0.408 TCGA Ovarian(4;0.039) 41 77 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92088352 92088352 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:92088352C>T uc001pdj.3 + 1 3091 c.3074C>T c.(3073-3075)TCC>TTC p.S1025F NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1025 Cadherin 9.|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) TCATCTGTTTCCTTTGTTGAG 0.458 TCGA Ovarian(4;0.039) 6 34 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92532092 92532092 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:92532092G>A uc001pdj.3 + 9 5930 c.5913G>A c.(5911-5913)ATG>ATA p.M1971I NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1971 Cadherin 17.|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) TCACCATCATGGTTAAAGAAG 0.413 TCGA Ovarian(4;0.039) 29 111 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92533403 92533403 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:92533403C>T uc001pdj.3 + 9 7241 c.7224C>T c.(7222-7224)CCC>CCT p.P2408P NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2408 Cadherin 22.|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) AATTAGCCCCCCGGGGCCATT 0.443 TCGA Ovarian(4;0.039) 35 38 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92534585 92534585 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:92534585C>T uc001pdj.3 + 9 8423 c.8406C>T c.(8404-8406)ATC>ATT p.I2802I NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2802 Extracellular (Potential).|Cadherin 25. 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) ATGTAGATATCAAGGTATTGG 0.433 TCGA Ovarian(4;0.039) 17 19 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92600132 92600132 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:92600132G>A uc001pdj.3 + 21 11901 c.11884G>A c.(11884-11886)GTG>ATG p.V3962M FAT3_uc001pdi.3_Missense_Mutation_p.V402M NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 3962 Laminin G-like.|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) CGGCGCCCTGGTGCAAGCGGA 0.617 TCGA Ovarian(4;0.039) 5 6 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92616106 92616106 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:92616106C>T uc001pdj.3 + 23 12501 c.12484C>T c.(12484-12486)CTC>TTC p.L4162F FAT3_uc001pdi.3_Missense_Mutation_p.L602F NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 4162 Helical; (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) CGCCGTGGTCCTCTTCGTCAT 0.592 TCGA Ovarian(4;0.039) 6 11 --- --- --- --- PASS SLC36A4 120103 broad.mit.edu 37 11 92918976 92918976 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:92918976C>T uc001pdn.2 - 2 157 c.60G>A c.(58-60)ATG>ATA p.M20I SLC36A4_uc001pdm.2_5'UTR NM_152313 NP_689526 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid 20 L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity ovary(2)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TCATTACATCCATATCTTTAA 0.333 10 33 --- --- --- --- PASS CCDC67 159989 broad.mit.edu 37 11 93148188 93148188 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:93148188A>T uc001pdq.2 + 13 1646 c.1546A>T c.(1546-1548)AAC>TAC p.N516Y CCDC67_uc001pdo.1_Missense_Mutation_p.N516Y NM_181645 NP_857596 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 516 ovary(1) 1 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) CTGTGAGCCAAACAGAAGTAC 0.393 28 57 --- --- --- --- PASS KDM4D 55693 broad.mit.edu 37 11 94730726 94730726 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:94730726G>A uc001pfe.2 + 3 1022 c.190G>A c.(190-192)GAT>AAT p.D64N NM_018039 NP_060509 Q6B0I6 KDM4D_HUMAN jumonji domain containing 2D 64 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 AGAGACCTATGATAATATCAG 0.438 8 53 --- --- --- --- PASS ENDOD1 23052 broad.mit.edu 37 11 94862074 94862074 + Silent SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:94862074A>G uc001pfh.2 + 2 909 c.834A>G c.(832-834)AAA>AAG p.K278K NM_015036 NP_055851 O94919 ENDD1_HUMAN endonuclease domain containing 1 precursor 278 extracellular region endonuclease activity|metal ion binding|nucleic acid binding 0 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824) ACACAGAGAAAATGAAAAAAA 0.403 20 49 --- --- --- --- PASS CNTN5 53942 broad.mit.edu 37 11 99690452 99690452 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:99690452C>T uc001pga.2 + 4 572 c.233C>T c.(232-234)TCC>TTC p.S78F CNTN5_uc009ywv.1_Missense_Mutation_p.S78F|CNTN5_uc001pfz.2_Missense_Mutation_p.S78F|CNTN5_uc001pgb.2_Intron NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 78 cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AATTATTATTCCCCCATCAAT 0.343 5 21 --- --- --- --- PASS PGR 5241 broad.mit.edu 37 11 100933363 100933363 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:100933363G>A uc001pgh.2 - 4 2770 c.2027C>T c.(2026-2028)TCA>TTA p.S676L PGR_uc001pgg.2_Missense_Mutation_p.S57L|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 676 cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) TTGACCTGGTGAAAAAGTGAA 0.458 31 67 --- --- --- --- PASS MMP8 4317 broad.mit.edu 37 11 102593196 102593196 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:102593196C>T uc001phe.2 - 2 410 c.311G>A c.(310-312)GGA>GAA p.G104E MMP8_uc010rut.1_Missense_Mutation_p.G39E|MMP8_uc010ruu.1_Missense_Mutation_p.G81E NM_002424 NP_002415 P22894 MMP8_HUMAN matrix metalloproteinase 8 preproprotein 104 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) CTTGGGGTTTCCTGGGGTTAA 0.393 21 22 --- --- --- --- PASS MMP1 4312 broad.mit.edu 37 11 102661200 102661200 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:102661200C>T uc001phi.2 - 10 1496 c.1353G>A c.(1351-1353)ACG>ACA p.T451T uc001phh.1_Intron|MMP1_uc010ruv.1_Silent_p.T385T NM_002421 NP_002412 P03956 MMP1_HUMAN matrix metalloproteinase 1 isoform 1 451 Hemopexin-like 4. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) AAATTCTCTTCGTTTTAGGAT 0.318 4 13 --- --- --- --- PASS MMP1 4312 broad.mit.edu 37 11 102661252 102661252 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:102661252C>T uc001phi.2 - 10 1444 c.1301G>A c.(1300-1302)GGA>GAA p.G434E uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.G368E NM_002421 NP_002412 P03956 MMP1_HUMAN matrix metalloproteinase 1 isoform 1 434 Hemopexin-like 4. blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) ATAGAAAAATCCTAGAAACAA 0.323 8 11 --- --- --- --- PASS MMP3 4314 broad.mit.edu 37 11 102713525 102713525 + Silent SNP C A A rs149147183 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:102713525C>A uc001phj.1 - 2 293 c.228G>T c.(226-228)ACG>ACT p.T76T NM_002422 NP_002413 P08254 MMP3_HUMAN matrix metalloproteinase 3 preproprotein 76 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding lung(1)|kidney(1) 2 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) CCAGCTTCCCCGTCACCTCCA 0.488 3 21 --- --- --- --- PASS DYNC2H1 79659 broad.mit.edu 37 11 103107179 103107179 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:103107179C>T uc001pho.2 + 63 9874 c.9730C>T c.(9730-9732)CTT>TTT p.L3244F DYNC2H1_uc001phn.1_Missense_Mutation_p.L3244F|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 3244 AAA 5 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GAGGAGATTTCTTTGTACTGA 0.333 11 36 --- --- --- --- PASS DDI1 414301 broad.mit.edu 37 11 103908634 103908634 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:103908634C>T uc001phr.2 + 1 1327 c.1084C>T c.(1084-1086)CCT>TCT p.P362S PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 362 proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) TTATTTTCTTCCTGAGGGAGA 0.463 20 18 --- --- --- --- PASS CASP4 837 broad.mit.edu 37 11 104820346 104820346 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:104820346G>A uc001pid.1 - 5 778 c.705C>T c.(703-705)TTC>TTT p.F235F CASP4_uc001pib.1_Silent_p.F179F|CASP4_uc009yxg.1_Silent_p.F144F|CASP4_uc010rux.1_Silent_p.F235F NM_001225 NP_001216 P49662 CASP4_HUMAN caspase 4 isoform alpha precursor 235 apoptosis|induction of apoptosis|proteolysis intracellular cysteine-type endopeptidase activity|protein binding lung(2)|ovary(1)|skin(1) 4 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357) TGAATATCTGGAAGATGGTGT 0.483 22 68 --- --- --- --- PASS ELMOD1 55531 broad.mit.edu 37 11 107501162 107501162 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:107501162C>T uc010rvs.1 + 3 441 c.37C>T c.(37-39)CTG>TTG p.L13L ELMOD1_uc001pjm.2_Silent_p.L13L|ELMOD1_uc010rvt.1_Silent_p.L7L NM_018712 NP_061182 Q8N336 ELMD1_HUMAN ELMO/CED-12 domain containing 1 isoform 1 13 phagocytosis cytoskeleton GTPase activator activity 0 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481) CCAGGTATGCCTGTATTTTTA 0.413 6 12 --- --- --- --- PASS EXPH5 23086 broad.mit.edu 37 11 108385421 108385421 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:108385421G>A uc001pkk.2 - 6 924 c.813C>T c.(811-813)ATC>ATT p.I271I EXPH5_uc010rvy.1_Silent_p.I83I|EXPH5_uc010rvz.1_Silent_p.I115I|EXPH5_uc010rwa.1_Silent_p.I195I NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 271 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) GGATGTCATAGATAGACATAT 0.388 20 33 --- --- --- --- PASS ARHGAP20 57569 broad.mit.edu 37 11 110450853 110450853 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:110450853G>A uc001pkz.1 - 16 3102 c.2817C>T c.(2815-2817)TCC>TCT p.S939S ARHGAP20_uc001pky.1_Silent_p.S916S|ARHGAP20_uc009yyb.1_Silent_p.S903S|ARHGAP20_uc001pla.1_Silent_p.S903S|ARHGAP20_uc001plb.2_Silent_p.S482S NM_020809 NP_065860 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 939 Ser-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3)|kidney(2) 5 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) TGCCTGGGGAGGATAAGCTGG 0.488 22 34 --- --- --- --- PASS C11orf53 341032 broad.mit.edu 37 11 111156674 111156674 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:111156674C>T uc001plc.2 + 4 753 c.606C>T c.(604-606)TCC>TCT p.S202S NM_198498 NP_940900 Q8IXP5 CK053_HUMAN hypothetical protein LOC341032 202 0 all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147) Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507) GGCCACTCTCCCCAGATGAGG 0.582 28 44 --- --- --- --- PASS FDXACB1 91893 broad.mit.edu 37 11 111746473 111746473 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:111746473A>T uc001pmc.3 - 5 1345 c.1048T>A c.(1048-1050)TCT>ACT p.S350T ALG9_uc010rwo.1_Intron|FDXACB1_uc009yyi.2_Missense_Mutation_p.S201T NM_138378 NP_612387 Q9BRP7 FDXA1_HUMAN ferredoxin-fold anticodon binding domain 350 phenylalanyl-tRNA aminoacylation|tRNA processing ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding 0 ACTAGGAGAGAAGGTCTAAGG 0.468 19 85 --- --- --- --- PASS HTR3B 9177 broad.mit.edu 37 11 113813828 113813828 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:113813828A>G uc001pok.2 + 7 888 c.821A>G c.(820-822)AAG>AGG p.K274R HTR3B_uc001pol.2_Missense_Mutation_p.K263R NM_006028 NP_006019 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B 274 Helical; Name=2; (Potential). synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) ATTGTGTTCAAGACCAGTGTG 0.567 10 13 --- --- --- --- PASS BUD13 84811 broad.mit.edu 37 11 116619214 116619214 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:116619214C>T uc001ppn.2 - 10 1878 c.1844G>A c.(1843-1845)AGT>AAT p.S615N BUD13_uc001ppo.2_Missense_Mutation_p.S481N NM_032725 NP_116114 Q9BRD0 BUD13_HUMAN BUD13 homolog isoform 1 615 large_intestine(1)|pancreas(1) 2 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) ATCCTCAACACTCCATTTGTA 0.493 6 31 --- --- --- --- PASS ZNF259 8882 broad.mit.edu 37 11 116655826 116655826 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:116655826G>A uc001ppp.2 - 7 775 c.742C>T c.(742-744)CTC>TTC p.L248F ZNF259_uc009yzd.2_Missense_Mutation_p.L248F|ZNF259_uc001ppq.2_Intron NM_003904 NP_003895 O75312 ZPR1_HUMAN zinc finger protein 259 248 cell proliferation|signal transduction cytoplasm|nucleolus 0 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153) TCATTTCTGAGATCTTCCTCT 0.498 35 53 --- --- --- --- PASS SIK3 23387 broad.mit.edu 37 11 116729286 116729286 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:116729286G>A uc001ppy.2 - 20 2613 c.2577C>T c.(2575-2577)ACC>ACT p.T859T SIK3_uc001ppz.2_Intron|SIK3_uc001pqa.2_Intron|SIK3_uc001ppw.2_Intron|SIK3_uc001ppx.2_Intron|SIK3_uc001pqb.2_Silent_p.T162T NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN serine/threonine-protein kinase QSK 859 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1) 12 TCAGGGCTTGGGTTGGAGAGA 0.597 17 46 --- --- --- --- PASS CEP164 22897 broad.mit.edu 37 11 117253651 117253651 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:117253651C>T uc001prc.2 + 14 1864 c.1717C>T c.(1717-1719)CCA>TCA p.P573S CEP164_uc001prb.2_Missense_Mutation_p.P576S|CEP164_uc010rxk.1_Missense_Mutation_p.P547S|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_5'Flank NM_014956 NP_055771 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 573 Glu-rich. cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) GCCAGTCTCTCCAGAGGTGTA 0.632 6 6 --- --- --- --- PASS CEP164 22897 broad.mit.edu 37 11 117280365 117280365 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:117280365G>A uc001prc.2 + 30 3927 c.3780G>A c.(3778-3780)AAG>AAA p.K1260K CEP164_uc001prb.2_Silent_p.K1255K|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Silent_p.K685K NM_014956 NP_055771 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 1260 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) CCTCCCGCAAGATCCACGGGC 0.617 30 41 --- --- --- --- PASS DSCAML1 57453 broad.mit.edu 37 11 117306409 117306409 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:117306409G>A uc001prh.1 - 27 5009 c.5007C>T c.(5005-5007)CTC>CTT p.L1669L NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1609 Helical; (Potential). axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GTACGATGAAGAGCAGTGCCA 0.582 15 18 --- --- --- --- PASS UBE4A 9354 broad.mit.edu 37 11 118235859 118235859 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:118235859C>T uc001psw.2 + 2 193 c.64C>T c.(64-66)CTG>TTG p.L22L UBE4A_uc001psv.2_Silent_p.L22L NM_004788 NP_004779 Q14139 UBE4A_HUMAN ubiquitination factor E4A 22 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 5 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) TTTTGGCTCCCTGGCTGATGC 0.453 12 30 --- --- --- --- PASS MLL 4297 broad.mit.edu 37 11 118376855 118376855 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:118376855G>A uc001pta.2 + 27 10262 c.10239G>A c.(10237-10239)CAG>CAA p.Q3413Q MLL_uc001ptb.2_Silent_p.Q3416Q NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3413 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GGACATCACAGACCCCCTCTA 0.537 T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 20 68 --- --- --- --- PASS BCL9L 283149 broad.mit.edu 37 11 118769513 118769513 + Missense_Mutation SNP G C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:118769513G>C uc001pug.2 - 8 5076 c.4111C>G c.(4111-4113)CCC>GCC p.P1371A BCL9L_uc009zal.2_Missense_Mutation_p.P1366A NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 1371 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity ovary(1)|pancreas(1) 2 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GGCCGAGAGGGAGTCTGCTCC 0.627 7 18 --- --- --- --- PASS HYOU1 10525 broad.mit.edu 37 11 118923096 118923096 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:118923096G>A uc001puu.2 - 10 1226 c.1033C>T c.(1033-1035)CGT>TGT p.R345C HYOU1_uc001put.2_Missense_Mutation_p.R310C|HYOU1_uc010ryu.1_Missense_Mutation_p.R365C|HYOU1_uc010ryv.1_Missense_Mutation_p.R234C|HYOU1_uc001pux.3_Missense_Mutation_p.R345C|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Missense_Mutation_p.R345C NM_006389 NP_006380 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 precursor 345 endoplasmic reticulum lumen ATP binding|protein binding 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) AATTCCACACGAGTCACTTTT 0.557 41 56 --- --- --- --- PASS VPS11 55823 broad.mit.edu 37 11 118951947 118951947 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:118951947C>T uc010ryx.1 + 16 2626 c.2584C>T c.(2584-2586)CCT>TCT p.P862S VPS11_uc010ryy.1_Missense_Mutation_p.P708S NM_021729 NP_068375 Q9H270 VPS11_HUMAN vacuolar protein sorting 11 862 protein transport endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) CACCTGCCTCCCTGAAAACCG 0.542 25 55 --- --- --- --- PASS HINFP 25988 broad.mit.edu 37 11 119003908 119003908 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:119003908C>T uc001pvp.2 + 10 1307 c.1118C>T c.(1117-1119)CCC>CTC p.P373L HINFP_uc001pvq.2_Missense_Mutation_p.P373L|HINFP_uc001pvr.2_Missense_Mutation_p.P126L NM_015517 NP_056332 Q9BQA5 HINFP_HUMAN MBD2 (methyl-CpG-binding protein)-interacting 373 Interaction with NPAT. DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 TTCAAGTGGCCCTCAGGGCAT 0.463 24 59 --- --- --- --- PASS ABCG4 64137 broad.mit.edu 37 11 119031280 119031280 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:119031280C>T uc001pvs.2 + 14 1965 c.1629C>T c.(1627-1629)ATC>ATT p.I543I ABCG4_uc009zar.2_Silent_p.I543I NM_022169 NP_071452 Q9H172 ABCG4_HUMAN ATP-binding cassette, subfamily G, member 4 543 ABC transmembrane type-2.|Helical; Name=5; (Potential). cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity ovary(2) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) TTACCGCCATCCCTGTCCTCT 0.567 56 88 --- --- --- --- PASS CCDC153 283152 broad.mit.edu 37 11 119063871 119063871 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:119063871C>T uc010rze.1 - 5 427 c.339G>A c.(337-339)CGG>CGA p.R113R NM_001145018 NP_001138490 Q494R4 CC153_HUMAN coiled-coil domain containing 153 113 Potential. 0 CTAGCTGCCCCCGAAGGCCTT 0.592 8 29 --- --- --- --- PASS CBL 867 broad.mit.edu 37 11 119155697 119155697 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:119155697C>T uc001pwe.2 + 10 1588 c.1450C>T c.(1450-1452)CCA>TCA p.P484S NM_005188 NP_005179 P22681 CBL_HUMAN Cas-Br-M (murine) ecotropic retroviral 484 Pro-rich. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1) 149 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) GCCGCCTTCTCCATTCTCCAT 0.512 CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome OREG0021401 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 34 --- --- --- --- PASS TRIM29 23650 broad.mit.edu 37 11 119996472 119996472 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:119996472G>A uc001pwz.2 - 4 1384 c.1260C>T c.(1258-1260)TGC>TGT p.C420C TRIM29_uc001pwy.2_5'Flank|TRIM29_uc010rzi.1_Silent_p.C159C|TRIM29_uc010rzj.1_Silent_p.C153C|TRIM29_uc001pxa.2_RNA NM_012101 NP_036233 Q14134 TRI29_HUMAN tripartite motif protein TRIM29 420 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|breast(1)|kidney(1)|skin(1) 4 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) CGTGGCGCATGCATACATTGA 0.597 8 31 --- --- --- --- PASS TRIM29 23650 broad.mit.edu 37 11 119996473 119996473 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:119996473C>A uc001pwz.2 - 4 1383 c.1259G>T c.(1258-1260)TGC>TTC p.C420F TRIM29_uc001pwy.2_5'Flank|TRIM29_uc010rzi.1_Missense_Mutation_p.C159F|TRIM29_uc010rzj.1_Missense_Mutation_p.C153F|TRIM29_uc001pxa.2_RNA NM_012101 NP_036233 Q14134 TRI29_HUMAN tripartite motif protein TRIM29 420 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|breast(1)|kidney(1)|skin(1) 4 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) GTGGCGCATGCATACATTGAG 0.592 8 30 --- --- --- --- PASS GRIK4 2900 broad.mit.edu 37 11 120823587 120823587 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:120823587C>T uc001pxn.2 + 15 1901 c.1614C>T c.(1612-1614)TCC>TCT p.S538S GRIK4_uc009zav.1_Silent_p.S538S|GRIK4_uc009zaw.1_Silent_p.S538S|GRIK4_uc009zax.1_Silent_p.S538S NM_014619 NP_055434 Q16099 GRIK4_HUMAN glutamate receptor KA1 precursor 538 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|central_nervous_system(1) 3 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) GCTATTTCTCCTTCCTGGACC 0.547 OREG0021429 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 47 --- --- --- --- PASS TBCEL 219899 broad.mit.edu 37 11 120916532 120916532 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:120916532G>A uc009zay.2 + 2 211 c.133G>A c.(133-135)GAT>AAT p.D45N TBCEL_uc001pxo.2_Missense_Mutation_p.D45N|TBCEL_uc001pxp.2_5'UTR|TBCEL_uc001pxq.2_RNA NM_001130047 NP_001123519 Q5QJ74 TBCEL_HUMAN tubulin folding cofactor E-like 45 cytoplasm|cytoskeleton skin(1) 1 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) TCCTATGAAAGGTAAGAAAGA 0.393 10 13 --- --- --- --- PASS TECTA 7007 broad.mit.edu 37 11 120989408 120989408 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:120989408G>A uc010rzo.1 + 6 1184 c.1184G>A c.(1183-1185)GGA>GAA p.G395E NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 395 VWFD 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) ATCCCCAAAGGAAGCTATGGA 0.522 12 46 --- --- --- --- PASS TECTA 7007 broad.mit.edu 37 11 121028816 121028816 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:121028816C>T uc010rzo.1 + 13 4572 c.4572C>T c.(4570-4572)TCC>TCT p.S1524S NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 1524 VWFD 4. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CCGACATCTCCTTCCAGCTTA 0.572 18 33 --- --- --- --- PASS TECTA 7007 broad.mit.edu 37 11 121032794 121032794 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:121032794C>T uc010rzo.1 + 15 4987 c.4987C>T c.(4987-4989)CCC>TCC p.P1663S NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 1663 VWFD 4. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) ACCTCTTGCCCCCAGCTGCAA 0.507 17 61 --- --- --- --- PASS SORL1 6653 broad.mit.edu 37 11 121403216 121403216 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:121403216G>A uc001pxx.2 + 12 1720 c.1640G>A c.(1639-1641)GGA>GAA p.G547E NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 547 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) GACCACGGCGGAATCATCACG 0.483 17 24 --- --- --- --- PASS BLID 414899 broad.mit.edu 37 11 121986431 121986431 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:121986431A>G uc001pyf.2 - 1 493 c.200T>C c.(199-201)CTT>CCT p.L67P LOC399959_uc009zba.2_Intron NM_001001786 NP_001001786 Q8IZY5 BLID_HUMAN BRCC2 protein 67 apoptosis mitochondrion 0 Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101) GTACCTTTTAAGAGAAAGCAC 0.463 OREG0021435 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 83 --- --- --- --- PASS GRAMD1B 57476 broad.mit.edu 37 11 123471189 123471189 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:123471189C>T uc001pyx.2 + 7 883 c.554C>T c.(553-555)TCG>TTG p.S185L GRAMD1B_uc001pyw.2_Missense_Mutation_p.S192L|GRAMD1B_uc010rzw.1_Missense_Mutation_p.S145L|GRAMD1B_uc010rzx.1_Missense_Mutation_p.S145L|GRAMD1B_uc009zbe.1_Missense_Mutation_p.S181L NM_020716 NP_065767 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 185 integral to membrane ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) TTCTTCACTTCGTTTGGGGCC 0.408 12 16 --- --- --- --- PASS TMEM225 338661 broad.mit.edu 37 11 123756054 123756054 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:123756054C>T uc001pzi.2 - 1 287 c.79G>A c.(79-81)GGA>AGA p.G27R NM_001013743 NP_001013765 Q6GV28 TM225_HUMAN transmembrane protein 225 27 Helical; (Potential). integral to membrane upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 3 AAGGTGATTCCCATCACCATT 0.423 20 27 --- --- --- --- PASS OR4D5 219875 broad.mit.edu 37 11 123810609 123810609 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:123810609G>A uc001pzk.1 + 1 286 c.286G>A c.(286-288)GGA>AGA p.G96R NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, 96 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TTCCTTTGGTGGATGCCTGAC 0.493 8 44 --- --- --- --- PASS OR6T1 219874 broad.mit.edu 37 11 123814038 123814038 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:123814038C>T uc010sab.1 - 1 508 c.508G>A c.(508-510)GGC>AGC p.G170S NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, 170 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) CCATTGGGGCCACAGAAAGGC 0.562 25 30 --- --- --- --- PASS OR10G8 219869 broad.mit.edu 37 11 123900675 123900675 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:123900675G>A uc001pzp.1 + 1 346 c.346G>A c.(346-348)GTC>ATC p.V116I NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 116 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) CCTCTACAGGGTCATGTCCTG 0.552 41 63 --- --- --- --- PASS VWA5A 4013 broad.mit.edu 37 11 123989018 123989018 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:123989018G>A uc001pzu.2 + 5 578 c.369G>A c.(367-369)GCG>GCA p.A123A VWA5A_uc001pzr.2_Silent_p.A123A|VWA5A_uc001pzs.2_Silent_p.A123A|VWA5A_uc010sae.1_Silent_p.A139A|VWA5A_uc001pzt.2_Silent_p.A123A NM_001130142 NP_001123614 O00534 VMA5A_HUMAN BCSC-1 isoform 1 123 VIT. upper_aerodigestive_tract(1)|ovary(1) 2 GGTCGAAGGCGGCAGTCACCC 0.577 16 53 --- --- --- --- PASS OR8B8 26493 broad.mit.edu 37 11 124310855 124310855 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:124310855G>A uc010sal.1 - 1 127 c.127C>T c.(127-129)CTG>TTG p.L43L NM_012378 NP_036510 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, 43 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) ATCAAGCCCAGGTTCCCCACC 0.488 29 40 --- --- --- --- PASS OR8B12 219858 broad.mit.edu 37 11 124413056 124413056 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:124413056C>T uc010sam.1 - 1 495 c.495G>A c.(493-495)CTG>CTA p.L165L NM_001005195 NP_001005195 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, 165 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) CACAGAAGGTCAGGTTCATTA 0.507 27 48 --- --- --- --- PASS SIAE 54414 broad.mit.edu 37 11 124508525 124508525 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:124508525C>T uc001qan.2 - 9 1346 c.1233G>A c.(1231-1233)AAG>AAA p.K411K NM_170601 NP_733746 Q9HAT2 SIAE_HUMAN sialate O-acetylesterase precursor 411 extracellular region|lysosome carboxylesterase activity|sialate O-acetylesterase activity 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243) AGAGTTCTATCTTCTCAGGCA 0.473 13 16 --- --- --- --- PASS SIAE 54414 broad.mit.edu 37 11 124517323 124517323 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:124517323C>T uc001qan.2 - 7 1017 c.904G>A c.(904-906)GAA>AAA p.E302K NM_170601 NP_733746 Q9HAT2 SIAE_HUMAN sialate O-acetylesterase precursor 302 extracellular region|lysosome carboxylesterase activity|sialate O-acetylesterase activity 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243) TGGAAGGTTTCACGCCAGTCT 0.468 18 33 --- --- --- --- PASS SLC37A2 219855 broad.mit.edu 37 11 124947395 124947395 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:124947395C>T uc001qbn.2 + 4 536 c.285C>T c.(283-285)CTC>CTT p.L95L SLC37A2_uc010sau.1_Silent_p.L95L NM_001145290 NP_001138762 Q8TED4 SPX2_HUMAN solute carrier family 37 (glycerol-3-phosphate 95 Helical; (Potential). carbohydrate transport|transmembrane transport integral to membrane ovary(2) 2 all_hematologic(175;0.215) Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384) ACGCCTTCCTCATCGCCTATG 0.527 10 21 --- --- --- --- PASS PKNOX2 63876 broad.mit.edu 37 11 125280123 125280123 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:125280123C>T uc001qbu.2 + 8 934 c.620C>T c.(619-621)TCC>TTC p.S207F PKNOX2_uc010saz.1_Missense_Mutation_p.S178F|PKNOX2_uc010sba.1_Missense_Mutation_p.S178F|PKNOX2_uc010sbb.1_Missense_Mutation_p.S143F|PKNOX2_uc001qbv.2_5'Flank NM_022062 NP_071345 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 207 nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) AATTCCATGTCCGGAGTCTCC 0.567 28 116 --- --- --- --- PASS STT3A 3703 broad.mit.edu 37 11 125472276 125472276 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:125472276C>T uc001qcd.2 + 4 338 c.228C>T c.(226-228)GCC>GCT p.A76A STT3A_uc009zbm.2_Silent_p.A76A|STT3A_uc001qce.2_Silent_p.A76A|STT3A_uc010sbg.1_5'UTR NM_152713 NP_689926 P46977 STT3A_HUMAN integral membrane protein 1 76 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity 0 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) ATGACCGAGCCTGGTACCCTT 0.378 8 19 --- --- --- --- PASS CDON 50937 broad.mit.edu 37 11 125880416 125880416 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:125880416G>A uc009zbw.2 - 8 1500 c.1372C>T c.(1372-1374)CGA>TGA p.R458* CDON_uc001qdc.3_Nonsense_Mutation_p.R458*|CDON_uc001qdd.3_RNA NM_016952 NP_058648 Q4KMG0 CDON_HUMAN surface glycoprotein, Ig superfamily member 458 Ig-like C2-type 5.|Extracellular (Potential). cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding ovary(3)|skin(2)|breast(1) 6 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) TGTGATTTTCGGGATTTCGAT 0.522 33 46 --- --- --- --- PASS KIRREL3 84623 broad.mit.edu 37 11 126333112 126333112 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:126333112G>A uc001qea.2 - 6 1043 c.682C>T c.(682-684)CGT>TGT p.R228C KIRREL3_uc001qeb.2_Missense_Mutation_p.R228C|KIRREL3_uc001qec.1_Missense_Mutation_p.R228C NM_032531 NP_115920 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 isoform 1 228 Ig-like C2-type 2.|Extracellular (Potential). hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding ovary(3) 3 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) TTGGTGGCACGACACACGATG 0.622 7 25 --- --- --- --- PASS KCNJ5 3762 broad.mit.edu 37 11 128781486 128781486 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:128781486C>T uc001qet.2 + 2 632 c.318C>T c.(316-318)TTC>TTT p.F106F KCNJ5_uc009zck.2_Silent_p.F106F|KCNJ5_uc001qew.2_Silent_p.F106F NM_000890 NP_000881 P48544 IRK5_HUMAN potassium inwardly-rectifying channel J5 106 Helical; Name=M1; (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) TCTTCGGCTTCATTTGGTGGC 0.527 16 46 --- --- --- --- PASS ARHGAP32 9743 broad.mit.edu 37 11 128839068 128839068 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:128839068C>T uc009zcp.2 - 22 5998 c.5998G>A c.(5998-6000)GAC>AAC p.D2000N ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.D959N|ARHGAP32_uc001qez.2_Missense_Mutation_p.D1651N NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 2000 Interaction with FYN. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 ACACTGGGGTCCCTCTCCACG 0.537 28 35 --- --- --- --- PASS ARHGAP32 9743 broad.mit.edu 37 11 128839539 128839539 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:128839539C>T uc009zcp.2 - 22 5527 c.5527G>A c.(5527-5529)GGA>AGA p.G1843R ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.G802R|ARHGAP32_uc001qez.2_Missense_Mutation_p.G1494R NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 1843 Interaction with FYN. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 CCATGGCCTCCGTGATGGTGG 0.612 10 18 --- --- --- --- PASS BARX2 8538 broad.mit.edu 37 11 129321220 129321220 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:129321220C>T uc001qfc.3 + 4 813 c.763C>T c.(763-765)CCC>TCC p.P255S NM_003658 NP_003649 Q9UMQ3 BARX2_HUMAN BarH-like homeobox 2 255 0 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) ACGTGATGTCCCCTTAGAGAT 0.567 14 36 --- --- --- --- PASS PRDM10 56980 broad.mit.edu 37 11 129812365 129812365 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:129812365A>G uc001qfm.2 - 7 1154 c.922T>C c.(922-924)TAT>CAT p.Y308H PRDM10_uc001qfj.2_Missense_Mutation_p.Y222H|PRDM10_uc001qfk.2_Missense_Mutation_p.Y222H|PRDM10_uc001qfl.2_Missense_Mutation_p.Y222H|PRDM10_uc010sbx.1_Missense_Mutation_p.Y222H|PRDM10_uc001qfn.2_Missense_Mutation_p.Y308H|PRDM10_uc009zct.1_Missense_Mutation_p.Y340H NM_020228 NP_064613 Q9NQV6 PRD10_HUMAN PR domain containing 10 isoform 1 308 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) GTTGTATAATACACATGGTGG 0.488 13 41 --- --- --- --- PASS IGSF9B 22997 broad.mit.edu 37 11 133795713 133795713 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:133795713C>A uc001qgx.3 - 14 2186 c.1955G>T c.(1954-1956)CGT>CTT p.R652L IGSF9B_uc001qgy.1_Missense_Mutation_p.R494L NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 652 Fibronectin type-III 2.|Extracellular (Potential). integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CTCTGCGACACGGAACTCCAT 0.587 7 18 --- --- --- --- PASS GLB1L3 112937 broad.mit.edu 37 11 134158771 134158771 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:134158771C>A uc009zdf.2 + 7 1076 c.716C>A c.(715-717)CCG>CAG p.P239Q GLB1L3_uc010scs.1_Missense_Mutation_p.P239Q|GLB1L3_uc010sct.1_Missense_Mutation_p.P91Q NM_001080407 NP_001073876 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1 like 3 239 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds pancreas(1) 1 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) ACATACATGCCGTATCTCCAC 0.512 3 23 --- --- --- --- PASS GLB1L2 89944 broad.mit.edu 37 11 134240229 134240229 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr11:134240229C>A uc001qhp.2 + 12 1339 c.1151C>A c.(1150-1152)CCG>CAG p.P384Q GLB1L2_uc009zdg.1_RNA NM_138342 NP_612351 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 precursor 384 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds p.P384S(1) ovary(1)|pancreas(1)|skin(1) 3 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) CCCAAGATGCCGTATGAGCCC 0.592 5 124 --- --- --- --- PASS KDM5A 5927 broad.mit.edu 37 12 475235 475235 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:475235G>T uc001qif.1 - 4 765 c.402C>A c.(400-402)ACC>ACA p.T134T KDM5A_uc001qie.1_Silent_p.T134T|KDM5A_uc010sdn.1_Silent_p.T93T|KDM5A_uc010sdo.1_Intron NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 134 ARID. chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 TCTTCTCTTTGGTGACCATTT 0.388 T NUP98 AML 7 249 --- --- --- --- PASS WNT5B 81029 broad.mit.edu 37 12 1749040 1749040 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:1749040G>A uc009zdq.2 + 4 761 c.519G>A c.(517-519)AAG>AAA p.K173K WNT5B_uc001qjj.2_Silent_p.K173K|WNT5B_uc001qjk.2_Silent_p.K173K|WNT5B_uc001qjl.2_Silent_p.K173K NM_032642 NP_116031 Q9H1J7 WNT5B_HUMAN wingless-type MMTV integration site family, 173 angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding skin(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00109) GCTTCGCCAAGGAGTTTGTGG 0.657 3 9 --- --- --- --- PASS ADIPOR2 79602 broad.mit.edu 37 12 1889730 1889730 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:1889730C>T uc001qjm.2 + 5 774 c.577C>T c.(577-579)CTC>TTC p.L193F ADIPOR2_uc001qjn.2_Missense_Mutation_p.L193F NM_024551 NP_078827 Q86V24 ADR2_HUMAN adiponectin receptor 2 193 Helical; Name=2; (Potential). fatty acid oxidation|hormone-mediated signaling pathway integral to membrane hormone binding|receptor activity 0 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000382) AGGAGCCATTCTCTGCCTTTC 0.458 30 68 --- --- --- --- PASS CACNA2D4 93589 broad.mit.edu 37 12 2022270 2022270 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:2022270C>T uc001qjp.2 - 3 576 c.345G>A c.(343-345)GAG>GAA p.E115E CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Silent_p.E115E NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 115 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CATCCACCTCCTCGATCTTCA 0.532 13 21 --- --- --- --- PASS DCP1B 196513 broad.mit.edu 37 12 2062288 2062288 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:2062288G>A uc001qjx.1 - 7 898 c.818C>T c.(817-819)TCC>TTC p.S273F DCP1B_uc010sdy.1_Missense_Mutation_p.S171F NM_152640 NP_689853 Q8IZD4 DCP1B_HUMAN decapping enzyme Dcp1b 273 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(31;0.00193) ATAGGACAGGGAGCGTACAAC 0.478 10 19 --- --- --- --- PASS CACNA1C 775 broad.mit.edu 37 12 2602441 2602441 + Silent SNP C A A rs112002520 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:2602441C>A uc009zdu.1 + 7 1315 c.1002C>A c.(1000-1002)CCC>CCA p.P334P CACNA1C_uc009zdv.1_Silent_p.P331P|CACNA1C_uc001qkb.2_Silent_p.P334P|CACNA1C_uc001qkc.2_Silent_p.P334P|CACNA1C_uc001qke.2_Silent_p.P334P|CACNA1C_uc001qkf.2_Silent_p.P334P|CACNA1C_uc001qjz.2_Silent_p.P334P|CACNA1C_uc001qkd.2_Silent_p.P334P|CACNA1C_uc001qkg.2_Silent_p.P334P|CACNA1C_uc009zdw.1_Silent_p.P334P|CACNA1C_uc001qkh.2_Silent_p.P334P|CACNA1C_uc001qkl.2_Silent_p.P334P|CACNA1C_uc001qkn.2_Silent_p.P334P|CACNA1C_uc001qko.2_Silent_p.P334P|CACNA1C_uc001qkp.2_Silent_p.P334P|CACNA1C_uc001qkr.2_Silent_p.P334P|CACNA1C_uc001qku.2_Silent_p.P334P|CACNA1C_uc001qkq.2_Silent_p.P334P|CACNA1C_uc001qks.2_Silent_p.P334P|CACNA1C_uc001qkt.2_Silent_p.P334P|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Silent_p.P70P|CACNA1C_uc001qkj.1_Silent_p.P70P|CACNA1C_uc001qkk.1_Silent_p.P70P|CACNA1C_uc001qkm.1_Silent_p.P70P NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 334 I.|Extracellular (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) TGTGCAAGCCCGGCTGGGATG 0.602 5 110 --- --- --- --- PASS KCNA1 3736 broad.mit.edu 37 12 5021808 5021808 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:5021808G>A uc001qnh.2 + 2 2369 c.1264G>A c.(1264-1266)GAA>AAA p.E422K NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 422 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AACTGAGGGGGAAGAGCAGGC 0.522 80 205 --- --- --- --- PASS KCNA5 3741 broad.mit.edu 37 12 5153901 5153901 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:5153901C>T uc001qni.2 + 1 817 c.588C>T c.(586-588)TTC>TTT p.F196F NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 196 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 TGGACGTGTTCGCGGACGAGA 0.632 14 32 --- --- --- --- PASS NTF3 4908 broad.mit.edu 37 12 5603968 5603968 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:5603968G>A uc001qnl.3 + 1 671 c.588G>A c.(586-588)AAG>AAA p.K196K NTF3_uc001qnk.3_Silent_p.K209K NM_002527 NP_002518 P20783 NTF3_HUMAN neurotrophin 3 isoform 2 preproprotein 196 signal transduction extracellular region growth factor activity|neurotrophin receptor binding pancreas(1) 1 CGCGATGTAAGGAAGCCAGGC 0.507 19 34 --- --- --- --- PASS ANO2 57101 broad.mit.edu 37 12 5687656 5687656 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:5687656G>A uc001qnm.2 - 22 2334 c.2262C>T c.(2260-2262)TTC>TTT p.F754F NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 759 Helical; (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 AGGAGGCCACGAAGAGGGTGA 0.552 10 14 --- --- --- --- PASS ANO2 57101 broad.mit.edu 37 12 5936980 5936980 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:5936980C>T uc001qnm.2 - 7 907 c.835G>A c.(835-837)GAG>AAG p.E279K NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 284 Cytoplasmic (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 TTCAGGATCTCGTGCACCTAA 0.687 3 7 --- --- --- --- PASS VWF 7450 broad.mit.edu 37 12 6094223 6094223 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:6094223C>T uc001qnn.1 - 40 7214 c.6964G>A c.(6964-6966)GAG>AAG p.E2322K VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2322 VWFC 1. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CACTCATACTCGGGGCAGCAC 0.587 16 44 --- --- --- --- PASS VWF 7450 broad.mit.edu 37 12 6101092 6101092 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:6101092G>A uc001qnn.1 - 38 6941 c.6691C>T c.(6691-6693)CCC>TCC p.P2231S VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2231 E2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CCTTCGGAGGGATGGTCCCCA 0.562 20 20 --- --- --- --- PASS VWF 7450 broad.mit.edu 37 12 6125939 6125939 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:6125939G>A uc001qnn.1 - 29 5401 c.5151C>T c.(5149-5151)TTC>TTT p.F1717F VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 1717 VWFA 3; main binding site for collagens type I and III. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CTTTTGAAATGAAAGCCTTGG 0.483 24 75 --- --- --- --- PASS SCNN1A 6337 broad.mit.edu 37 12 6483928 6483928 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:6483928C>T uc001qnx.2 - 2 311 c.22G>A c.(22-24)GAG>AAG p.E8K SCNN1A_uc001qnw.2_Missense_Mutation_p.E67K|SCNN1A_uc010sfb.1_Missense_Mutation_p.E31K|LTBR_uc010sfc.1_5'Flank NM_001038 NP_001029 P37088 SCNNA_HUMAN sodium channel, nonvoltage-gated 1 alpha isoform 8 Cytoplasmic (By similarity). excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding 0 Amiloride(DB00594)|Triamterene(DB00384) GAGTCCTGCTCCTCCAGCTTG 0.642 14 30 --- --- --- --- PASS IFFO1 25900 broad.mit.edu 37 12 6650684 6650684 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:6650684C>T uc001qpd.1 - 8 1602 c.1568G>A c.(1567-1569)GGA>GAA p.G523E IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_Missense_Mutation_p.G163E|IFFO1_uc001qpb.1_Missense_Mutation_p.G200E|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Missense_Mutation_p.G535E|IFFO1_uc001qpf.1_Missense_Mutation_p.G526E|IFFO1_uc001qoz.1_Missense_Mutation_p.G164E|IFFO1_uc001qpc.1_Missense_Mutation_p.G527E|IFFO1_uc001qpg.2_Missense_Mutation_p.G164E NM_080730 NP_542768 Q0D2I5 IFFO1_HUMAN intermediate filament family orphan isoform 2 523 intermediate filament 0 CTACCGGTCTCCAGACTGGGT 0.642 8 26 --- --- --- --- PASS USP5 8078 broad.mit.edu 37 12 6969353 6969353 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:6969353C>T uc001qri.3 + 10 1228 c.1169C>T c.(1168-1170)TCC>TTC p.S390F USP5_uc001qrh.3_Missense_Mutation_p.S390F NM_001098536 NP_001092006 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 isoform 1 390 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding lung(2)|breast(1)|skin(1) 4 GGGGAGTATTCCAAGCCAGTA 0.572 7 19 --- --- --- --- PASS ATN1 1822 broad.mit.edu 37 12 7048042 7048042 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:7048042C>T uc001qrw.1 + 7 3153 c.2916C>T c.(2914-2916)CCC>CCT p.P972P ATN1_uc001qrx.1_Silent_p.P972P NM_001007026 NP_001007027 P54259 ATN1_HUMAN atrophin-1 972 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 ATCCCTTTCCCCGACATGGGG 0.657 22 15 --- --- --- --- PASS ATN1 1822 broad.mit.edu 37 12 7048043 7048043 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:7048043C>T uc001qrw.1 + 7 3154 c.2917C>T c.(2917-2919)CGA>TGA p.R973* ATN1_uc001qrx.1_Nonsense_Mutation_p.R973* NM_001007026 NP_001007027 P54259 ATN1_HUMAN atrophin-1 973 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 TCCCTTTCCCCGACATGGGGG 0.662 25 15 --- --- --- --- PASS C1S 716 broad.mit.edu 37 12 7171671 7171671 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:7171671C>T uc001qsj.2 + 8 1211 c.492C>T c.(490-492)CTC>CTT p.L164L C1S_uc001qsk.2_Silent_p.L164L|C1S_uc001qsl.2_Silent_p.L164L|C1S_uc009zfr.2_5'UTR|C1S_uc009zfs.2_RNA NM_201442 NP_958850 P09871 C1S_HUMAN complement component 1, s subcomponent 164 EGF-like; calcium-binding. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity skin(1) 1 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) AATATTTCCTCCATGATGACA 0.468 15 47 --- --- --- --- PASS RBP5 83758 broad.mit.edu 37 12 7281010 7281010 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:7281010G>A uc001qsq.2 - 2 173 c.78C>T c.(76-78)ATC>ATT p.I26I CLSTN3_uc001qsr.2_5'Flank NM_031491 NP_113679 P82980 RET5_HUMAN retinol binding protein 5, cellular 26 cytoplasm retinal binding|retinol binding|transporter activity ovary(1) 1 Vitamin A(DB00162) CAGCCAAGCTGATGTCTGTGG 0.612 5 21 --- --- --- --- PASS ACSM4 341392 broad.mit.edu 37 12 7475830 7475830 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:7475830G>A uc001qsx.1 + 8 1126 c.1126G>A c.(1126-1128)GGA>AGA p.G376R NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 376 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding 0 CTCTCAATAGGGAATGATTTG 0.353 11 17 --- --- --- --- PASS CD163L1 283316 broad.mit.edu 37 12 7559321 7559321 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:7559321G>A uc001qsy.2 - 5 920 c.894C>T c.(892-894)GTC>GTT p.V298V CD163L1_uc010sge.1_Silent_p.V308V NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 298 SRCR 3.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 GCTTGCATACGACATCAGCTG 0.517 34 55 --- --- --- --- PASS DPPA3 359787 broad.mit.edu 37 12 7868817 7868817 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:7868817G>A uc001qtf.2 + 3 429 c.351G>A c.(349-351)AAG>AAA p.K117K NM_199286 NP_954980 Q6W0C5 DPPA3_HUMAN stella 117 cytoplasm|nucleus 0 Kidney(36;0.0887) CAACAAACAAGGAGCCTAAGG 0.274 12 15 --- --- --- --- PASS SLC2A14 144195 broad.mit.edu 37 12 7984256 7984256 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:7984256G>A uc001qtk.2 - 9 1078 c.285C>T c.(283-285)TCC>TCT p.S95S SLC2A14_uc001qtl.2_Silent_p.S72S|SLC2A14_uc001qtm.2_Silent_p.S72S|SLC2A14_uc010sgg.1_Intron|SLC2A14_uc001qtn.2_Silent_p.S95S|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Silent_p.S110S NM_153449 NP_703150 Q8TDB8 GTR14_HUMAN glucose transporter 14 95 Helical; Name=2; (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity ovary(1) 1 Kidney(36;0.0883) TACCCCCGACGGAAAATATGG 0.493 OREG0021654 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 45 --- --- --- --- PASS SLC2A3 6515 broad.mit.edu 37 12 8074150 8074150 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:8074150G>A uc001qtr.2 - 10 1612 c.1350C>T c.(1348-1350)GTC>GTT p.V450V NM_006931 NP_008862 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose 450 Cytoplasmic (Potential). carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity ovary(3)|pancreas(1) 4 Kidney(36;0.0866) GGGTCTCAGGGACTTTGAAGA 0.478 13 64 --- --- --- --- PASS CLEC4D 338339 broad.mit.edu 37 12 8673754 8673754 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:8673754G>A uc001qun.2 + 6 728 c.535G>A c.(535-537)GGA>AGA p.G179R NM_080387 NP_525126 Q8WXI8 CLC4D_HUMAN C-type lectin domain family 4, member D 179 C-type lectin.|Extracellular (Potential). innate immune response integral to membrane sugar binding 0 Lung SC(5;0.184) CAACTCTCAGGGAGAAAACTG 0.353 25 20 --- --- --- --- PASS PZP 5858 broad.mit.edu 37 12 9304839 9304839 + Missense_Mutation SNP G A A rs147424033 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:9304839G>A uc001qvl.2 - 32 4218 c.4189C>T c.(4189-4191)CCC>TCC p.P1397S PZP_uc009zgl.2_Missense_Mutation_p.P1183S NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 GGTTTCAGGGGAATAAAACCA 0.353 14 46 --- --- --- --- PASS CLEC9A 283420 broad.mit.edu 37 12 10218158 10218158 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:10218158C>T uc001qxa.2 + 9 1266 c.653C>T c.(652-654)TCC>TTC p.S218F NM_207345 NP_997228 Q6UXN8 CLC9A_HUMAN C-type lectin domain family 9, member A 218 Extracellular (Potential).|C-type lectin. positive regulation of cytokine secretion|receptor-mediated endocytosis cell surface|integral to membrane receptor activity|sugar binding ovary(1) 1 AAAAGCAATTCCCTTCTTTCG 0.428 26 36 --- --- --- --- PASS KLRD1 3824 broad.mit.edu 37 12 10462062 10462062 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:10462062G>A uc001qxw.3 + 3 280 c.83G>A c.(82-84)GGA>GAA p.G28E KLRD1_uc001qxx.3_Missense_Mutation_p.G28E|KLRD1_uc001qxy.3_Intron|KLRD1_uc009zhh.2_Missense_Mutation_p.G28E|KLRD1_uc009zhi.2_Missense_Mutation_p.G28E|KLRD1_uc001qxz.3_Missense_Mutation_p.G28E NM_001114396 NP_001107868 Q13241 KLRD1_HUMAN killer cell lectin-like receptor subfamily D, 28 Helical; Signal-anchor for type II membrane protein; (Potential). cell surface receptor linked signaling pathway|regulation of immune response integral to membrane|plasma membrane sugar binding|transmembrane receptor activity 0 TCTACGTTGGGAATTTTGTTG 0.348 14 27 --- --- --- --- PASS CSDA 8531 broad.mit.edu 37 12 10862602 10862602 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:10862602G>A uc001qyt.2 - 6 928 c.685C>T c.(685-687)CGC>TGC p.R229C CSDA_uc001qyu.2_Intron NM_003651 NP_003642 P16989 DBPA_HUMAN cold shock domain protein A isoform a 229 negative regulation of transcription from RNA polymerase II promoter|response to cold cytoplasm|nucleus double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2)|lung(1)|large_intestine(1) 4 Glioma(1;0.155) TACTGAGGGCGATACTGGGGG 0.622 4 10 --- --- --- --- PASS TAS2R8 50836 broad.mit.edu 37 12 10959202 10959202 + Silent SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:10959202A>G uc010shh.1 - 1 378 c.378T>C c.(376-378)ATT>ATC p.I126I NM_023918 NP_076407 Q9NYW2 TA2R8_HUMAN taste receptor, type 2, member 8 126 Cytoplasmic (Potential). sensory perception of taste integral to membrane taste receptor activity ovary(2) 2 CCACCATATCAATTTTCCACT 0.413 12 39 --- --- --- --- PASS PRB3 5544 broad.mit.edu 37 12 11421019 11421019 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:11421019C>T uc001qzs.2 - 3 202 c.164G>A c.(163-165)GGA>GAA p.G55E PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 55 1.|10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich. extracellular region Gram-negative bacterial cell surface binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.201) TTCTGGCTTTCCTGGAGGAGG 0.597 48 113 --- --- --- --- PASS PRB4 5545 broad.mit.edu 37 12 11461601 11461601 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:11461601C>T uc001qzf.1 - 3 350 c.316G>A c.(316-318)GGA>AGA p.G106R PRB4_uc001qzt.2_Missense_Mutation_p.G106R NM_002723 NP_002714 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 148 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.|6. Missing (in allele M and allele S). extracellular region ovary(1) 1 TGGTTTCCTCCTTGTGGGGGT 0.617 HNSCC(22;0.051) 30 189 --- --- --- --- PASS PRB1 5542 broad.mit.edu 37 12 11506298 11506298 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:11506298C>T uc001qzw.1 - 4 776 c.739G>A c.(739-741)GGA>AGA p.G247R PRB1_uc001qzu.1_Missense_Mutation_p.G114R|PRB1_uc001qzv.1_Intron NM_005039 NP_005030 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 isoform 1 308 13.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. Missing (in clone CP-5). extracellular region 0 OV - Ovarian serous cystadenocarcinoma(49;0.185) TTGTTGCCTCCTTGTGGGGGT 0.607 27 140 --- --- --- --- PASS PRB1 5542 broad.mit.edu 37 12 11506313 11506313 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:11506313C>T uc001qzw.1 - 4 761 c.724G>A c.(724-726)GGA>AGA p.G242R PRB1_uc001qzu.1_Missense_Mutation_p.G109R|PRB1_uc001qzv.1_Intron NM_005039 NP_005030 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 isoform 1 303 13.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. Missing (in clone CP-5). extracellular region 0 OV - Ovarian serous cystadenocarcinoma(49;0.185) GGGGGTGGTCCTTGTGGCTTT 0.617 32 74 --- --- --- --- PASS MANSC1 54682 broad.mit.edu 37 12 12483867 12483867 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:12483867C>A uc001rai.1 - 4 648 c.390G>T c.(388-390)TTG>TTT p.L130F MANSC1_uc010shm.1_Missense_Mutation_p.L64F|MANSC1_uc001raj.1_Missense_Mutation_p.L96F|MANSC1_uc009zht.1_Missense_Mutation_p.L49F NM_018050 NP_060520 Q9H8J5 MANS1_HUMAN MANSC domain containing 1 precursor 130 Extracellular (Potential). integral to membrane 0 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) CTTGGCTTGGCAAATTTCTGG 0.388 21 44 --- --- --- --- PASS GRIN2B 2904 broad.mit.edu 37 12 13720178 13720178 + Silent SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:13720178T>C uc001rbt.2 - 12 2558 c.2379A>G c.(2377-2379)GAA>GAG p.E793E NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 793 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GCCAGAGAGCTTCCAGTTCTT 0.323 8 31 --- --- --- --- PASS GRIN2B 2904 broad.mit.edu 37 12 14018920 14018920 + Nonsense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:14018920C>A uc001rbt.2 - 2 402 c.223G>T c.(223-225)GAG>TAG p.E75* NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 75 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGGTCGGTCTCATTCATGGCT 0.557 35 51 --- --- --- --- PASS ATF7IP 55729 broad.mit.edu 37 12 14634064 14634064 + Silent SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:14634064C>A uc001rbw.2 + 13 3383 c.3225C>A c.(3223-3225)CCC>CCA p.P1075P ATF7IP_uc001rbv.1_Silent_p.P1074P|ATF7IP_uc001rbx.2_Silent_p.P1074P|ATF7IP_uc001rby.3_Silent_p.P1075P|ATF7IP_uc001rca.2_Silent_p.P1075P NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 1075 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 CTCAGGCTCCCTTGCGAGGAA 0.493 4 50 --- --- --- --- PASS PTPRO 5800 broad.mit.edu 37 12 15656871 15656871 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:15656871G>A uc001rcv.1 + 6 1309 c.1135G>A c.(1135-1137)GAA>AAA p.E379K PTPRO_uc001rcw.1_Missense_Mutation_p.E379K|PTPRO_uc001rcu.1_Missense_Mutation_p.E379K NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 379 Fibronectin type-III 4.|Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) GATGGTGGATGAAGAAGCACA 0.368 12 31 --- --- --- --- PASS STRAP 11171 broad.mit.edu 37 12 16048369 16048369 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:16048369C>T uc001rdc.3 + 6 931 c.577C>T c.(577-579)CCT>TCT p.P193S STRAP_uc010shw.1_Missense_Mutation_p.P206S|STRAP_uc001rdd.3_Missense_Mutation_p.P99S NM_007178 NP_009109 Q9Y3F4 STRAP_HUMAN serine/threonine kinase receptor associated 193 WD 5. mRNA processing|RNA splicing cell junction|mitochondrion|spliceosomal complex identical protein binding skin(1) 1 Hepatocellular(102;0.121) GGAATATATTCCTGAGGGAGA 0.303 15 22 --- --- --- --- PASS PDE3A 5139 broad.mit.edu 37 12 20799438 20799438 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:20799438C>T uc001reh.1 + 11 2288 c.2266C>T c.(2266-2268)CAT>TAT p.H756Y NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 756 Catalytic (By similarity). Divalent metal cation 1 (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TAACAGAATCCATGCCACTGA 0.413 9 36 --- --- --- --- PASS SLCO1C1 53919 broad.mit.edu 37 12 20868132 20868132 + Missense_Mutation SNP C T T rs150378278 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:20868132C>T uc001rej.3 + 7 944 c.589C>T c.(589-591)CGT>TGT p.R197C SLCO1C1_uc010sii.1_Missense_Mutation_p.R197C|SLCO1C1_uc010sij.1_Intron|SLCO1C1_uc009zip.2_Missense_Mutation_p.R31C|SLCO1C1_uc001rei.2_Missense_Mutation_p.R197C|SLCO1C1_uc010sik.1_Missense_Mutation_p.R79C NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 197 Helical; Name=4; (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) CAATCTTCTTCGTGGAATAGG 0.413 19 49 --- --- --- --- PASS SLCO1C1 53919 broad.mit.edu 37 12 20874867 20874867 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:20874867C>T uc001rej.3 + 9 1260 c.905C>T c.(904-906)TCC>TTC p.S302F SLCO1C1_uc010sii.1_Missense_Mutation_p.S302F|SLCO1C1_uc010sij.1_Missense_Mutation_p.S253F|SLCO1C1_uc009zip.2_Missense_Mutation_p.S136F|SLCO1C1_uc001rei.2_Missense_Mutation_p.S302F|SLCO1C1_uc010sik.1_Missense_Mutation_p.S184F NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 302 Cytoplasmic (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) TTACCAAGATCCCAAAGTAGA 0.413 4 39 --- --- --- --- PASS SLCO1C1 53919 broad.mit.edu 37 12 20876032 20876032 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:20876032C>T uc001rej.3 + 10 1385 c.1030C>T c.(1030-1032)CCA>TCA p.P344S SLCO1C1_uc010sii.1_Missense_Mutation_p.P344S|SLCO1C1_uc010sij.1_Missense_Mutation_p.P295S|SLCO1C1_uc009zip.2_Missense_Mutation_p.P178S|SLCO1C1_uc001rei.2_Missense_Mutation_p.P344S|SLCO1C1_uc010sik.1_Missense_Mutation_p.P226S NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 344 Cytoplasmic (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) AGATTTTCTTCCATCACTGAA 0.413 4 24 --- --- --- --- PASS SLCO1C1 53919 broad.mit.edu 37 12 20885888 20885888 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:20885888G>A uc001rej.3 + 11 1587 c.1232G>A c.(1231-1233)GGG>GAG p.G411E SLCO1C1_uc010sii.1_Missense_Mutation_p.G411E|SLCO1C1_uc010sij.1_Missense_Mutation_p.G362E|SLCO1C1_uc009zip.2_Missense_Mutation_p.G245E|SLCO1C1_uc001rei.2_Missense_Mutation_p.G411E|SLCO1C1_uc010sik.1_Missense_Mutation_p.G293E NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 411 Helical; Name=8; (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) TTCTCTGGGGGGATAGTTATG 0.388 14 23 --- --- --- --- PASS SLCO1C1 53919 broad.mit.edu 37 12 20905317 20905317 + Missense_Mutation SNP A C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:20905317A>C uc001rej.3 + 16 2349 c.1994A>C c.(1993-1995)AAG>ACG p.K665T SLCO1C1_uc010sii.1_Missense_Mutation_p.K699N|SLCO1C1_uc010sij.1_Missense_Mutation_p.K616T|SLCO1C1_uc009zip.2_Missense_Mutation_p.K533N|SLCO1C1_uc001rei.2_Missense_Mutation_p.K665T|SLCO1C1_uc010sik.1_Missense_Mutation_p.K581N NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 665 Cytoplasmic (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) TTCATTTTAAAGAAAAATTAT 0.333 5 17 --- --- --- --- PASS SLCO1B3 28234 broad.mit.edu 37 12 21028281 21028281 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:21028281G>A uc001rek.2 + 8 966 c.840G>A c.(838-840)CCG>CCA p.P280P SLCO1B3_uc001rel.2_Silent_p.P280P|SLCO1B3_uc010sil.1_Silent_p.P280P|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Silent_p.P105P NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 280 Helical; Name=6; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) TTTTCTTGCCGAAAAATCCAA 0.358 19 53 --- --- --- --- PASS SLCO1B3 28234 broad.mit.edu 37 12 21054322 21054322 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:21054322G>A uc001rek.2 + 14 1912 c.1786G>A c.(1786-1788)GAT>AAT p.D596N SLCO1B3_uc001rel.2_Missense_Mutation_p.D596N|SLCO1B3_uc010sil.1_Missense_Mutation_p.D596N|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.D421N NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 596 Extracellular (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) GGCTCTGATTGATAAAACATG 0.378 24 68 --- --- --- --- PASS SLCO1A2 6579 broad.mit.edu 37 12 21453300 21453300 + Nonsense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:21453300T>A uc001rer.2 - 7 1143 c.892A>T c.(892-894)AAA>TAA p.K298* SLCO1A2_uc001res.2_Nonsense_Mutation_p.K298*|SLCO1A2_uc010siq.1_Nonsense_Mutation_p.K166*|SLCO1A2_uc010sio.1_Nonsense_Mutation_p.K166*|SLCO1A2_uc010sip.1_Nonsense_Mutation_p.K166*|SLCO1A2_uc001ret.2_Nonsense_Mutation_p.K296*|SLCO1A2_uc001reu.2_Nonsense_Mutation_p.K278* NM_021094 NP_066580 P46721 SO1A2_HUMAN organic anion transporting polypeptide A 298 Cytoplasmic (Potential). bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 ATTCCATATTTTTCCTTCTTG 0.299 5 24 --- --- --- --- PASS SLCO1A2 6579 broad.mit.edu 37 12 21457408 21457408 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:21457408G>A uc001rer.2 - 5 793 c.542C>T c.(541-543)TCC>TTC p.S181F SLCO1A2_uc001res.2_Missense_Mutation_p.S181F|SLCO1A2_uc010siq.1_Missense_Mutation_p.S49F|SLCO1A2_uc010sio.1_Missense_Mutation_p.S49F|SLCO1A2_uc010sip.1_Missense_Mutation_p.S49F|SLCO1A2_uc001ret.2_Missense_Mutation_p.S179F|SLCO1A2_uc001reu.2_Missense_Mutation_p.S161F NM_021094 NP_066580 P46721 SO1A2_HUMAN organic anion transporting polypeptide A 181 Helical; Name=4; (Potential). bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 TTCTATATAGGAAATACCCAA 0.343 24 26 --- --- --- --- PASS GYS2 2998 broad.mit.edu 37 12 21715933 21715933 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:21715933G>A uc001rfb.2 - 7 1236 c.981C>T c.(979-981)TTC>TTT p.F327F NM_021957 NP_068776 P54840 GYS2_HUMAN glycogen synthase 2 327 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity lung(1)|skin(1) 2 TCCCAGCAATGAAAAGGAACA 0.368 18 40 --- --- --- --- PASS ABCC9 10060 broad.mit.edu 37 12 21954063 21954063 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:21954063C>T uc001rfh.2 - 38 4585 c.4565G>A c.(4564-4566)GGA>GAA p.G1522E ABCC9_uc001rfg.2_Missense_Mutation_p.G51E NM_020297 NP_064693 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1522 Cytoplasmic (Potential).|ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TAAAATATTTCCTCGCTTCAT 0.408 13 31 --- --- --- --- PASS ABCC9 10060 broad.mit.edu 37 12 22047070 22047070 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:22047070C>T uc001rfi.1 - 12 1718 c.1698G>A c.(1696-1698)CTG>CTA p.L566L ABCC9_uc001rfh.2_Silent_p.L566L|ABCC9_uc001rfj.1_Silent_p.L566L NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 566 Extracellular (Potential).|ABC transmembrane type-1 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CTGCAGGTTTCAGATTGTTTC 0.468 13 32 --- --- --- --- PASS ABCC9 10060 broad.mit.edu 37 12 22078890 22078890 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:22078890G>T uc001rfi.1 - 3 412 c.392C>A c.(391-393)CCT>CAT p.P131H ABCC9_uc001rfh.2_Missense_Mutation_p.P131H|ABCC9_uc001rfj.1_Missense_Mutation_p.P131H|ABCC9_uc001rfk.2_Missense_Mutation_p.P131H|ABCC9_uc001rfl.1_Missense_Mutation_p.P131H NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 131 Cytoplasmic (Potential). defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AAGTAATTTAGGAAAATTTGA 0.363 13 45 --- --- --- --- PASS SOX5 6660 broad.mit.edu 37 12 23893870 23893870 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:23893870C>T uc001rfw.2 - 5 774 c.672G>A c.(670-672)AAG>AAA p.K224K SOX5_uc001rfx.2_Silent_p.K211K|SOX5_uc001rfy.2_Silent_p.K211K|SOX5_uc010siv.1_Silent_p.K211K|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Silent_p.K176K NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 224 Potential. transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 CAGCTAGTTTCTTCTGCTCAT 0.507 16 20 --- --- --- --- PASS ITPR2 3709 broad.mit.edu 37 12 26868709 26868709 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:26868709G>A uc001rhg.2 - 7 1101 c.684C>T c.(682-684)TCC>TCT p.S228S NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 228 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) CCTCTCGATAGGAACTATATT 0.348 10 42 --- --- --- --- PASS C12orf35 55196 broad.mit.edu 37 12 32134112 32134112 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:32134112G>T uc001rks.2 + 4 637 c.223G>T c.(223-225)GTT>TTT p.V75F NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 75 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) ACAAATTTCTGTTTCTGATAT 0.373 17 30 --- --- --- --- PASS CPNE8 144402 broad.mit.edu 37 12 39124151 39124151 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:39124151G>A uc001rls.1 - 11 816 c.732C>T c.(730-732)TTC>TTT p.F244F NM_153634 NP_705898 Q86YQ8 CPNE8_HUMAN copine VIII 244 C2 2. pancreas(1) 1 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) ATTCTCCAATGAAATCATGAC 0.279 15 14 --- --- --- --- PASS ABCD2 225 broad.mit.edu 37 12 40012821 40012821 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:40012821C>T uc001rmb.2 - 1 1023 c.597G>A c.(595-597)ATG>ATA p.M199I NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D, member 2 199 ABC transmembrane type-1.|Interaction with PEX19. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1) 6 GCCTCCCATCCATATTGATCA 0.418 8 60 --- --- --- --- PASS ABCD2 225 broad.mit.edu 37 12 40012996 40012996 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:40012996C>T uc001rmb.2 - 1 848 c.422G>A c.(421-423)CGG>CAG p.R141Q NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D, member 2 141 ABC transmembrane type-1.|Interaction with PEX19. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1) 6 GATGAAAGTCCGAGGCTTCTT 0.438 14 24 --- --- --- --- PASS SLC2A13 114134 broad.mit.edu 37 12 40154015 40154015 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:40154015A>T uc010skm.1 - 10 1811 c.1760T>A c.(1759-1761)CTC>CAC p.L587H C12orf40_uc009zjv.1_Intron NM_052885 NP_443117 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose 587 Helical; Name=12; (Potential). integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity ovary(1) 1 Lung NSC(34;0.105)|all_lung(34;0.123) GATGAAAAGGAGTCCCACAGC 0.393 HNSCC(50;0.14) 13 17 --- --- --- --- PASS CNTN1 1272 broad.mit.edu 37 12 41337879 41337879 + Silent SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:41337879T>C uc001rmm.1 + 14 1703 c.1590T>C c.(1588-1590)TTT>TTC p.F530F CNTN1_uc009zjy.1_Silent_p.F530F|CNTN1_uc001rmn.1_Silent_p.F519F|CNTN1_uc001rmo.2_Silent_p.F530F NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 530 Ig-like C2-type 6. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) CTGCGTCCTTTGATCCTGCCT 0.393 13 32 --- --- --- --- PASS CNTN1 1272 broad.mit.edu 37 12 41414201 41414201 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:41414201C>T uc001rmm.1 + 20 2595 c.2482C>T c.(2482-2484)CAT>TAT p.H828Y CNTN1_uc001rmn.1_Missense_Mutation_p.H817Y NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 828 Fibronectin type-III 3. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GATATCTGTTCATTGGGAACA 0.294 5 30 --- --- --- --- PASS CNTN1 1272 broad.mit.edu 37 12 41418956 41418956 + Missense_Mutation SNP G C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:41418956G>C uc001rmm.1 + 21 2641 c.2528G>C c.(2527-2529)CGG>CCG p.R843P CNTN1_uc001rmn.1_Missense_Mutation_p.R832P NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 843 Fibronectin type-III 3. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TTGCAGATTCGGTATTGGGCT 0.458 65 68 --- --- --- --- PASS PDZRN4 29951 broad.mit.edu 37 12 41966734 41966734 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:41966734G>A uc010skn.1 + 10 1624 c.1556G>A c.(1555-1557)AGG>AAG p.R519K PDZRN4_uc001rmq.3_Missense_Mutation_p.R460K|PDZRN4_uc009zjz.2_Missense_Mutation_p.R458K|PDZRN4_uc001rmr.2_Missense_Mutation_p.R345K NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 718 ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GATATGCAAAGGGGAAAGCTA 0.473 16 87 --- --- --- --- PASS PRICKLE1 144165 broad.mit.edu 37 12 42854137 42854137 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:42854137C>T uc010skv.1 - 8 2257 c.1970G>A c.(1969-1971)CGG>CAG p.R657Q PRICKLE1_uc001rnl.2_Missense_Mutation_p.R657Q|PRICKLE1_uc010skw.1_Missense_Mutation_p.R657Q|PRICKLE1_uc001rnm.2_Missense_Mutation_p.R657Q|PRICKLE1_uc001rnk.1_5'Flank NM_001144881 NP_001138353 Q96MT3 PRIC1_HUMAN prickle homolog 1 657 Arg/His-rich. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding ovary(3)|skin(1) 4 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) GACGCGTCTCCGAGTCCTTTC 0.507 8 34 --- --- --- --- PASS ADAMTS20 80070 broad.mit.edu 37 12 43847772 43847772 + Silent SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:43847772A>G uc010skx.1 - 12 1698 c.1698T>C c.(1696-1698)AGT>AGC p.S566S NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 566 TSP type-1 1. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TTGAACAAGAACTGTAAGGTT 0.403 7 12 --- --- --- --- PASS ADAMTS20 80070 broad.mit.edu 37 12 43858458 43858458 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:43858458C>T uc010skx.1 - 10 1445 c.1445G>A c.(1444-1446)CGA>CAA p.R482Q NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 482 Disintegrin. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TCCATCATATCGTGATCCAGG 0.383 12 59 --- --- --- --- PASS DBX2 440097 broad.mit.edu 37 12 45429899 45429899 + Splice_Site SNP T G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:45429899T>G uc001rok.1 - 2 576 c.404_splice c.e2-1 p.A135_splice NM_001004329 NP_001004329 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) tggaaggtgctgcagagaaag 0.075 7 4 --- --- --- --- PASS ARID2 196528 broad.mit.edu 37 12 46211527 46211527 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:46211527C>T uc001ros.1 + 5 493 c.493C>T c.(493-495)CTG>TTG p.L165L ARID2_uc001ror.2_Silent_p.L165L NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 165 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GGTGCTTTCACTGTTATCTGG 0.358 20 13 --- --- --- --- PASS ARID2 196528 broad.mit.edu 37 12 46245535 46245535 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:46245535T>C uc001ros.1 + 15 3629 c.3629T>C c.(3628-3630)GTT>GCT p.V1210A ARID2_uc001ror.2_Missense_Mutation_p.V1210A|ARID2_uc009zkg.1_Missense_Mutation_p.V666A|ARID2_uc009zkh.1_Missense_Mutation_p.V837A|ARID2_uc001rou.1_Missense_Mutation_p.V544A NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1210 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CAGACAGGAGTTGGACTTCCA 0.473 15 11 --- --- --- --- PASS ARID2 196528 broad.mit.edu 37 12 46246497 46246497 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:46246497C>T uc001ros.1 + 15 4591 c.4591C>T c.(4591-4593)CCA>TCA p.P1531S ARID2_uc001ror.2_Missense_Mutation_p.P1531S|ARID2_uc009zkg.1_Missense_Mutation_p.P987S|ARID2_uc009zkh.1_Missense_Mutation_p.P1158S|ARID2_uc001rou.1_Missense_Mutation_p.P865S NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1531 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CGCAGGAATTCCAAATAAAGT 0.478 7 51 --- --- --- --- PASS H1FNT 341567 broad.mit.edu 37 12 48723693 48723693 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:48723693G>A uc001rrm.2 + 1 931 c.619G>A c.(619-621)GAA>AAA p.E207K NM_181788 NP_861453 Q75WM6 H1FNT_HUMAN H1 histone family, member N, testis-specific 207 chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation nuclear chromatin ATP binding|DNA binding pancreas(1) 1 AGCCAAGGAGGAAGCGGGAGC 0.672 7 7 --- --- --- --- PASS OR8S1 341568 broad.mit.edu 37 12 48919789 48919789 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:48919789C>T uc010slu.1 + 1 375 c.375C>T c.(373-375)GCC>GCT p.A125A NM_001005203 NP_001005203 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, 125 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GCCATGCTGCCATCTGCCGCC 0.542 25 28 --- --- --- --- PASS ADCY6 112 broad.mit.edu 37 12 49166093 49166093 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:49166093G>A uc001rsh.3 - 17 3432 c.2772C>T c.(2770-2772)TTC>TTT p.F924F ADCY6_uc001rsj.3_Silent_p.F924F|ADCY6_uc001rsi.3_Silent_p.F871F|ADCY6_uc010slw.1_Silent_p.F155F NM_015270 NP_056085 O43306 ADCY6_HUMAN adenylate cyclase 6 isoform a 924 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 ATP binding|metal ion binding 0 GTTTCCAGAGGAAGTCTAGGC 0.582 23 21 --- --- --- --- PASS DDX23 9416 broad.mit.edu 37 12 49230001 49230001 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:49230001G>A uc001rsm.2 - 11 1376 c.1285C>T c.(1285-1287)CGT>TGT p.R429C NM_004818 NP_004809 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 429 Helicase ATP-binding. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding kidney(3)|ovary(1)|lung(1)|skin(1) 6 ATGATGTCACGATTCTGTAGC 0.512 15 83 --- --- --- --- PASS CCDC65 85478 broad.mit.edu 37 12 49308340 49308340 + Missense_Mutation SNP G A A rs145334864 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:49308340G>A uc001rso.2 + 3 681 c.454G>A c.(454-456)GAG>AAG p.E152K NM_033124 NP_149115 Q8IXS2 CCD65_HUMAN coiled-coil domain containing 65 152 Potential. ovary(1)|skin(1) 2 CCTAACCAAGGAGTTTGAGAC 0.542 21 23 --- --- --- --- PASS TUBA1C 84790 broad.mit.edu 37 12 49666170 49666170 + Silent SNP C A A rs113331886 by1000genomes TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:49666170C>A uc001rts.2 + 5 863 c.405C>A c.(403-405)TCC>TCA p.S135S TUBA1C_uc010smh.1_Silent_p.S240S|TUBA1C_uc001rtt.1_Silent_p.S170S|uc010smi.1_Nonsense_Mutation_p.G140* NM_032704 NP_116093 Q9BQE3 TBA1C_HUMAN tubulin alpha 6 170 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity 0 TGGAGTTCTCCATTTACCCGG 0.542 6 22 --- --- --- --- PASS FAM186B 84070 broad.mit.edu 37 12 49994501 49994501 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:49994501G>A uc001ruo.2 - 4 1095 c.922C>T c.(922-924)CTC>TTC p.L308F FAM186B_uc010smk.1_Missense_Mutation_p.L218F NM_032130 NP_115506 Q8IYM0 F186B_HUMAN hypothetical protein LOC84070 308 Potential. protein complex ovary(1) 1 TTCATCAGGAGAAGGTCATGG 0.552 86 82 --- --- --- --- PASS NCKAP5L 57701 broad.mit.edu 37 12 50187175 50187175 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:50187175C>T uc009zlk.2 - 10 3502 c.3300G>A c.(3298-3300)GAG>GAA p.E1100E NCKAP5L_uc001rvc.3_Silent_p.E304E|NCKAP5L_uc001rvb.2_Silent_p.E693E NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 1096 Pro-rich. central_nervous_system(1) 1 CCAGGCTGTCCTCCGAGGGCA 0.662 13 14 --- --- --- --- PASS NCKAP5L 57701 broad.mit.edu 37 12 50191039 50191039 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:50191039G>A uc009zlk.2 - 8 806 c.604C>T c.(604-606)CCC>TCC p.P202S NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_5'UTR NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 198 Pro-rich. central_nervous_system(1) 1 AGAAGCAAGGGGTCAGTCTCT 0.692 8 13 --- --- --- --- PASS NCKAP5L 57701 broad.mit.edu 37 12 50191040 50191040 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:50191040G>A uc009zlk.2 - 8 805 c.603C>T c.(601-603)GAC>GAT p.D201D NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_5'UTR NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 197 Pro-rich. central_nervous_system(1) 1 GAAGCAAGGGGTCAGTCTCTT 0.692 9 14 --- --- --- --- PASS DIP2B 57609 broad.mit.edu 37 12 51069214 51069214 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:51069214C>T uc001rwv.2 + 7 1055 c.899C>T c.(898-900)TCT>TTT p.S300F DIP2B_uc001rwu.2_Missense_Mutation_p.S300F|DIP2B_uc009zls.1_Missense_Mutation_p.S182F NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 300 nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 GTGGATGACTCTGAAGAAATT 0.279 8 34 --- --- --- --- PASS ACVR1B 91 broad.mit.edu 37 12 52377884 52377884 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:52377884A>T uc001rzn.2 + 5 955 c.913A>T c.(913-915)ATT>TTT p.I305F ACVR1B_uc001rzl.2_Missense_Mutation_p.I305F|ACVR1B_uc001rzm.2_Missense_Mutation_p.I305F|ACVR1B_uc010snn.1_Missense_Mutation_p.I346F NM_004302 NP_004293 P36896 ACV1B_HUMAN activin A receptor, type IB isoform a precursor 305 Protein kinase.|Cytoplasmic (Potential). G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1) 9 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) TGAGGGGATGATTAAGCTGGC 0.547 4 14 --- --- --- --- PASS KRT83 3889 broad.mit.edu 37 12 52713029 52713029 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:52713029C>T uc001saf.2 - 2 567 c.504G>A c.(502-504)CGG>CGA p.R168R NM_002282 NP_002273 P78385 KRT83_HUMAN keratin 83 168 Rod.|Coil 1B. epidermis development keratin filament structural molecule activity skin(1) 1 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CGGCCTCCCGCCGCAGAGTCT 0.597 8 32 --- --- --- --- PASS KRT83 3889 broad.mit.edu 37 12 52713030 52713030 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:52713030C>T uc001saf.2 - 2 566 c.503G>A c.(502-504)CGG>CAG p.R168Q NM_002282 NP_002273 P78385 KRT83_HUMAN keratin 83 168 Rod.|Coil 1B. epidermis development keratin filament structural molecule activity skin(1) 1 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) GGCCTCCCGCCGCAGAGTCTC 0.597 8 32 --- --- --- --- PASS KRT5 3852 broad.mit.edu 37 12 52913697 52913697 + Silent SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:52913697A>G uc001san.2 - 1 547 c.384T>C c.(382-384)GGT>GGC p.G128G KRT5_uc009zmh.2_Silent_p.G128G NM_000424 NP_000415 P13647 K2C5_HUMAN keratin 5 128 Head.|Gly-rich. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton 0 BRCA - Breast invasive adenocarcinoma(357;0.189) AGCCAGGGCCACCGAAGccac 0.313 6 26 --- --- --- --- PASS KRT71 112802 broad.mit.edu 37 12 52942523 52942523 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:52942523C>T uc001sao.2 - 4 845 c.775G>A c.(775-777)GAC>AAC p.D259N NM_033448 NP_258259 Q3SY84 K2C71_HUMAN keratin 71 259 Coil 1B.|Rod. structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.194) ATCTCCTGGTCCATGGATTCC 0.527 9 41 --- --- --- --- PASS KRT73 319101 broad.mit.edu 37 12 53008396 53008396 + Silent SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:53008396T>A uc001sas.2 - 4 821 c.786A>T c.(784-786)GGA>GGT p.G262G NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 262 Coil 1B.|Rod. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) ACTTGATTTCTCCATCCAGGG 0.532 5 22 --- --- --- --- PASS KRT73 319101 broad.mit.edu 37 12 53008398 53008398 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:53008398C>T uc001sas.2 - 4 819 c.784G>A c.(784-786)GGA>AGA p.G262R NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 262 Coil 1B.|Rod. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) TTGATTTCTCCATCCAGGGCA 0.532 5 23 --- --- --- --- PASS KRT76 51350 broad.mit.edu 37 12 53170489 53170489 + Missense_Mutation SNP G A A rs138159446 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:53170489G>A uc001sax.2 - 1 641 c.587C>T c.(586-588)TCC>TTC p.S196F NM_015848 NP_056932 Q01546 K22O_HUMAN keratin 76 196 Coil 1A.|Rod. cytoskeleton organization keratin filament structural molecule activity breast(1)|skin(1) 2 GTCGATGAAGGAGGCAAACTT 0.488 38 39 --- --- --- --- PASS KRT4 3851 broad.mit.edu 37 12 53207610 53207610 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:53207610C>T uc001saz.2 - 1 726 c.455G>A c.(454-456)GGA>GAA p.G152E NM_002272 NP_002263 B4DRS2 B4DRS2_HUMAN keratin 4 78 keratin filament structural molecule activity ovary(4)|skin(2) 6 GCCAAAGCCTCCAGCACCCCC 0.607 27 41 --- --- --- --- PASS KRT79 338785 broad.mit.edu 37 12 53227802 53227802 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:53227802C>T uc001sbb.2 - 1 276 c.243G>A c.(241-243)TTG>TTA p.L81L NM_175834 NP_787028 Q5XKE5 K2C79_HUMAN keratin 6L 81 Head. keratin filament structural molecule activity ovary(2)|skin(2) 4 GAGCCCGCCCCAACAAGGCCC 0.647 18 10 --- --- --- --- PASS KRT18 3875 broad.mit.edu 37 12 53345606 53345606 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:53345606C>T uc001sbe.2 + 6 983 c.914C>T c.(913-915)TCC>TTC p.S305F KRT18_uc009zmn.1_Missense_Mutation_p.S305F|KRT18_uc001sbf.1_Missense_Mutation_p.S132F|KRT18_uc001sbg.2_Missense_Mutation_p.S305F|KRT18_uc009zmo.2_Missense_Mutation_p.S305F|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank NM_199187 NP_954657 P05783 K1C18_HUMAN keratin 18 305 Interaction with DNAJB6.|Coil 2.|Rod.|Necessary for interaction with PNN. anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity skin(1) 1 ACAGTCCAGTCCTTGGAGATC 0.557 5 32 --- --- --- --- PASS ESPL1 9700 broad.mit.edu 37 12 53677227 53677227 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:53677227G>A uc001sck.2 + 16 3073 c.2982G>A c.(2980-2982)CTG>CTA p.L994L ESPL1_uc001scj.2_Silent_p.L669L|ESPL1_uc010soe.1_Silent_p.L205L NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 994 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 CAGAGAAGCTGGTCTGCCACC 0.512 41 58 --- --- --- --- PASS ESPL1 9700 broad.mit.edu 37 12 53680087 53680087 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:53680087G>T uc001sck.2 + 18 3658 c.3567G>T c.(3565-3567)AAG>AAT p.K1189N ESPL1_uc001scj.2_Missense_Mutation_p.K864N|ESPL1_uc010soe.1_Intron NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 1189 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 TCGTGCTGAAGGGCTGTCCTG 0.597 5 53 --- --- --- --- PASS ESPL1 9700 broad.mit.edu 37 12 53682974 53682974 + Silent SNP C T T rs145634647 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:53682974C>T uc001sck.2 + 21 4900 c.4809C>T c.(4807-4809)TTC>TTT p.F1603F ESPL1_uc001scj.2_Silent_p.F1278F NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 1603 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding p.F1603F(1) lung(1)|kidney(1)|skin(1) 3 TCTGCCGCTTCCTGGCCTTGT 0.592 41 57 --- --- --- --- PASS SP7 121340 broad.mit.edu 37 12 53722687 53722687 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:53722687C>T uc001sct.2 - 2 646 c.539G>A c.(538-540)GGG>GAG p.G180E SP7_uc001scu.2_Missense_Mutation_p.G162E|SP7_uc001scv.2_Missense_Mutation_p.G180E NM_152860 NP_690599 Q8TDD2 SP7_HUMAN osterix 180 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGGCAGTGTCCCTTGCAGCCC 0.622 3 7 --- --- --- --- PASS AMHR2 269 broad.mit.edu 37 12 53824998 53824998 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:53824998G>T uc001scx.1 + 11 1541 c.1463G>T c.(1462-1464)TGG>TTG p.W488L AMHR2_uc009zmy.1_3'UTR NM_020547 NP_065434 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II isoform 488 Cytoplasmic (Potential).|Protein kinase. Mullerian duct regression ATP binding|hormone binding|metal ion binding ovary(1)|skin(1) 2 Adenosine triphosphate(DB00171) GAAGACTGTTGGGATGCAGAC 0.592 Persistant_Mullerian_Duct_Syndrome_(type_I_and_II) 4 61 --- --- --- --- PASS MAP3K12 7786 broad.mit.edu 37 12 53879205 53879205 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:53879205C>T uc001sdm.1 - 6 875 c.777G>A c.(775-777)AAG>AAA p.K259K MAP3K12_uc001sdn.1_Silent_p.K292K NM_006301 NP_006292 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 259 Protein kinase. histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding lung(2)|ovary(1)|breast(1)|skin(1) 5 CACTCAGCTCCTTGGAAGTGC 0.532 63 99 --- --- --- --- PASS MAP3K12 7786 broad.mit.edu 37 12 53879942 53879942 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:53879942G>A uc001sdm.1 - 5 718 c.620C>T c.(619-621)CCT>CTT p.P207L MAP3K12_uc001sdn.1_Missense_Mutation_p.P240L NM_006301 NP_006292 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 207 Protein kinase. histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding lung(2)|ovary(1)|breast(1)|skin(1) 5 GGGGGTGACAGGGCGGCCAGC 0.607 10 25 --- --- --- --- PASS NCKAP1L 3071 broad.mit.edu 37 12 54929930 54929930 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:54929930G>A uc001sgc.3 + 28 3053 c.2974G>A c.(2974-2976)GAG>AAG p.E992K NCKAP1L_uc010sox.1_Missense_Mutation_p.E534K|NCKAP1L_uc010soy.1_Missense_Mutation_p.E942K NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 992 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 ATCTCCTGAGGAGGAATATAA 0.428 19 17 --- --- --- --- PASS PDE1B 5153 broad.mit.edu 37 12 54971076 54971076 + Silent SNP C G G rs150107941 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:54971076C>G uc001sgd.1 + 15 1741 c.1575C>G c.(1573-1575)GCC>GCG p.A525A PDE1B_uc010soz.1_Silent_p.A388A|PDE1B_uc010spa.1_Silent_p.A484A|PDE1B_uc001sgf.2_Silent_p.A388A|PDE1B_uc001sge.2_Silent_p.A505A|PDE1B_uc009znq.2_Silent_p.A321A NM_000924 NP_000915 Q01064 PDE1B_HUMAN phosphodiesterase 1B isoform 1 525 activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding upper_aerodigestive_tract(1)|ovary(1) 2 CATCCCCTGCCGAAGATGAAC 0.567 41 48 --- --- --- --- PASS NEUROD4 58158 broad.mit.edu 37 12 55420286 55420286 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:55420286G>A uc001sgp.3 + 2 441 c.63G>A c.(61-63)ATG>ATA p.M21I NM_021191 NP_067014 Q9HD90 NDF4_HUMAN neurogenic differentiation 4 21 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 CATCCTGGATGGATAAAGGTC 0.428 28 28 --- --- --- --- PASS OR10A7 121364 broad.mit.edu 37 12 55615268 55615268 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:55615268C>T uc010spf.1 + 1 460 c.460C>T c.(460-462)CCT>TCT p.P154S NM_001005280 NP_001005280 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, 154 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4) 4 GTCCGGTGTTCCTGTGTCTAT 0.488 36 42 --- --- --- --- PASS OR6C74 254783 broad.mit.edu 37 12 55641500 55641500 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:55641500C>T uc010spg.1 + 1 429 c.429C>T c.(427-429)GTC>GTT p.V143V NM_001005490 NP_001005490 A6NCV1 O6C74_HUMAN olfactory receptor, family 6, subfamily C, 143 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 GCTTGCTGGTCTTTGCTTCAT 0.483 30 24 --- --- --- --- PASS OR6C1 390321 broad.mit.edu 37 12 55714785 55714785 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:55714785G>A uc010spi.1 + 1 402 c.402G>A c.(400-402)ATG>ATA p.M134I NM_001005182 NP_001005182 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, 134 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 TGAGTATCATGAATCGAAGAG 0.428 14 20 --- --- --- --- PASS OR6C1 390321 broad.mit.edu 37 12 55715295 55715295 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:55715295G>A uc010spi.1 + 1 912 c.912G>A c.(910-912)AGG>AGA p.R304R NM_001005182 NP_001005182 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, 304 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 ACATGGCAAGGAAGACTGTAT 0.388 38 69 --- --- --- --- PASS OR6C2 341416 broad.mit.edu 37 12 55846129 55846129 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:55846129C>T uc001sgz.1 + 1 132 c.132C>T c.(130-132)ATC>ATT p.I44I NM_054105 NP_473446 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, 44 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 TGACTATTATCACCCTCACAT 0.423 24 30 --- --- --- --- PASS OR6C2 341416 broad.mit.edu 37 12 55846263 55846263 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:55846263C>T uc001sgz.1 + 1 266 c.266C>T c.(265-267)ACC>ATC p.T89I NM_054105 NP_473446 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, 89 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 GGGGACAATACCATTACCTAC 0.378 8 82 --- --- --- --- PASS OR6C70 390327 broad.mit.edu 37 12 55863430 55863430 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:55863430C>T uc010spn.1 - 1 493 c.493G>A c.(493-495)GAT>AAT p.D165N NM_001005499 NP_001005499 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, 165 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GCACAGAAATCCAAGTTAAGA 0.368 10 46 --- --- --- --- PASS OR6C4 341418 broad.mit.edu 37 12 55945068 55945068 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:55945068G>A uc010spp.1 + 1 58 c.58G>A c.(58-60)GAA>AAA p.E20K NM_001005494 NP_001005494 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, 20 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AAATCAACCTGAACTCCAAGT 0.408 44 49 --- --- --- --- PASS RDH5 5959 broad.mit.edu 37 12 56118299 56118299 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:56118299C>T uc001shk.2 + 5 1110 c.927C>T c.(925-927)GTC>GTT p.V309V RDH5_uc001shl.2_Silent_p.V309V NM_002905 NP_002896 Q92781 RDH1_HUMAN retinol dehydrogenase 5 (11-cis and 9-cis) 309 response to stimulus|visual perception membrane binding|retinol dehydrogenase activity ovary(1) 1 NADH(DB00157)|Vitamin A(DB00162) TCACCTGGGTCCTTCCCAAGC 0.577 OREG0021908 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 32 --- --- --- --- PASS DGKA 1606 broad.mit.edu 37 12 56346688 56346688 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:56346688C>T uc001sij.2 + 21 2178 c.1914C>T c.(1912-1914)GAC>GAT p.D638D DGKA_uc009zod.1_Silent_p.D557D|DGKA_uc001sik.2_Silent_p.D638D|DGKA_uc001sil.2_Silent_p.D638D|DGKA_uc001sim.2_Silent_p.D638D|DGKA_uc001sin.2_Silent_p.D638D|DGKA_uc009zof.2_Silent_p.D284D|DGKA_uc001sio.2_Silent_p.D380D NM_001345 NP_001336 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 638 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity ovary(3)|pancreas(1) 4 Vitamin E(DB00163) TCATCACCGACCCTGATATCC 0.552 18 71 --- --- --- --- PASS PAN2 9924 broad.mit.edu 37 12 56718474 56718474 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:56718474G>A uc001skx.2 - 11 1992 c.1619C>T c.(1618-1620)CCT>CTT p.P540L PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.P540L|PAN2_uc001sky.2_Missense_Mutation_p.P540L NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 540 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity ovary(2)|skin(2)|large_intestine(1)|breast(1) 6 ACAGCGTACAGGCTCCAGGAA 0.507 3 34 --- --- --- --- PASS APOF 319 broad.mit.edu 37 12 56755840 56755840 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:56755840G>A uc001sle.1 - 2 204 c.150C>T c.(148-150)CCC>CCT p.P50P NM_001638 NP_001629 Q13790 APOF_HUMAN apolipoprotein F precursor 50 cholesterol metabolic process high-density lipoprotein particle|low-density lipoprotein particle cholesterol binding|lipid transporter activity|receptor binding 0 CCAAGGACAAGGGAAAGTGCA 0.517 12 94 --- --- --- --- PASS APOF 319 broad.mit.edu 37 12 56755841 56755841 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:56755841G>A uc001sle.1 - 2 203 c.149C>T c.(148-150)CCC>CTC p.P50L NM_001638 NP_001629 Q13790 APOF_HUMAN apolipoprotein F precursor 50 cholesterol metabolic process high-density lipoprotein particle|low-density lipoprotein particle cholesterol binding|lipid transporter activity|receptor binding 0 CAAGGACAAGGGAAAGTGCAT 0.522 12 95 --- --- --- --- PASS BAZ2A 11176 broad.mit.edu 37 12 57000518 57000518 + Splice_Site SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:57000518C>T uc001slq.1 - 11 2293 c.2099_splice c.e11-1 p.E700_splice BAZ2A_uc001slp.1_Splice_Site_p.E698_splice|BAZ2A_uc009zow.1_Splice_Site_p.E668_splice NM_013449 NP_038477 Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding 0 TTCAATGTTTCTGTGAGAGCA 0.478 79 77 --- --- --- --- PASS BAZ2A 11176 broad.mit.edu 37 12 57005682 57005682 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:57005682G>A uc001slq.1 - 6 1684 c.1490C>T c.(1489-1491)CCC>CTC p.P497L BAZ2A_uc001slp.1_Missense_Mutation_p.P495L|BAZ2A_uc009zow.1_Missense_Mutation_p.P465L NM_013449 NP_038477 Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 497 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding 0 GGAAGTTACGGGAGAGGCTTT 0.542 3 19 --- --- --- --- PASS MYO1A 4640 broad.mit.edu 37 12 57423021 57423021 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:57423021C>T uc001smw.3 - 27 3143 c.2900G>A c.(2899-2901)GGG>GAG p.G967E MYO1A_uc010sqz.1_Missense_Mutation_p.G805E|MYO1A_uc009zpd.2_Missense_Mutation_p.G967E NM_005379 NP_005370 Q9UBC5 MYO1A_HUMAN myosin IA 967 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|urinary_tract(1) 7 CAGGAAGTCCCCCTTGGAGCC 0.527 26 26 --- --- --- --- PASS MYO1A 4640 broad.mit.edu 37 12 57440417 57440417 + Nonsense_Mutation SNP G A A rs146269737 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:57440417G>A uc001smw.3 - 8 802 c.559C>T c.(559-561)CGA>TGA p.R187* MYO1A_uc010sqz.1_Nonsense_Mutation_p.R25*|MYO1A_uc009zpd.2_Nonsense_Mutation_p.R187* NM_005379 NP_005370 Q9UBC5 MYO1A_HUMAN myosin IA 187 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|urinary_tract(1) 7 TTCACTAATCGGGATTTCTCA 0.502 33 36 --- --- --- --- PASS MIR1228 100302201 broad.mit.edu 37 12 57588348 57588348 + RNA SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:57588348C>T hsa-mir-1228|MI0006318 + c.62C>T LRP1_uc001snd.2_Intron 0 TCACACCTGCCTCGCCCCCCA 0.642 17 15 --- --- --- --- PASS STAC3 246329 broad.mit.edu 37 12 57638117 57638117 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:57638117G>A uc001snp.2 - 10 1034 c.839C>T c.(838-840)TCC>TTC p.S280F STAC3_uc009zpl.2_5'UTR|STAC3_uc001snq.2_Missense_Mutation_p.S241F|STAC3_uc010srm.1_Missense_Mutation_p.S94F NM_145064 NP_659501 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 280 SH3 1. intracellular signal transduction identical protein binding|metal ion binding ovary(2)|skin(1) 3 TTCTTCATTGGAGTCATCAAT 0.567 OREG0021942 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 24 --- --- --- --- PASS ARHGAP9 64333 broad.mit.edu 37 12 57873026 57873026 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:57873026C>T uc001sod.2 - 5 570 c.377G>A c.(376-378)CGA>CAA p.R126Q ARHGAP9_uc001snz.2_5'Flank|ARHGAP9_uc001soa.2_5'Flank|ARHGAP9_uc001sob.2_Missense_Mutation_p.R55Q|ARHGAP9_uc001soc.2_Missense_Mutation_p.R55Q|ARHGAP9_uc001soe.1_Missense_Mutation_p.R134Q|ARHGAP9_uc010sro.1_Missense_Mutation_p.R55Q NM_032496 NP_115885 Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 isoform 1 55 SH3. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding lung(1) 1 GBM - Glioblastoma multiforme(3;3.37e-34) GTTGGTCTTTCGAAGCAGTAG 0.557 10 47 --- --- --- --- PASS GEFT 115557 broad.mit.edu 37 12 58010570 58010570 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:58010570C>T uc001spb.2 + 15 2096 c.1636C>T c.(1636-1638)CTT>TTT p.L546F GEFT_uc009zpy.2_Missense_Mutation_p.L585F|GEFT_uc001spa.2_Missense_Mutation_p.L440F|uc001spc.2_Intron|GEFT_uc001spd.2_Missense_Mutation_p.L251F NM_182947 NP_891992 Q86VW2 ARHGP_HUMAN RhoA/RAC/CDC42 exchange factor isoform 1 546 regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity 0 Melanoma(17;0.122) TCTTCAGGCCCTTGGTGACAT 0.507 53 74 --- --- --- --- PASS OS9 10956 broad.mit.edu 37 12 58112049 58112049 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:58112049G>A uc001spj.2 + 11 1314 c.1255G>A c.(1255-1257)GAG>AAG p.E419K OS9_uc010srx.1_Missense_Mutation_p.E213K|OS9_uc001spk.2_Missense_Mutation_p.E419K|OS9_uc001spl.2_Missense_Mutation_p.E419K|OS9_uc001spm.2_Missense_Mutation_p.E419K|OS9_uc001spn.2_Missense_Mutation_p.E420K|OS9_uc010sry.1_Missense_Mutation_p.E387K|OS9_uc010srz.1_Missense_Mutation_p.E360K NM_006812 NP_006803 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum 419 Asp/Glu-rich (acidic). ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding ovary(1) 1 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) agaggaggatgaggatgagga 0.398 5 34 --- --- --- --- PASS AGAP2 116986 broad.mit.edu 37 12 58125160 58125160 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:58125160G>A uc001spq.2 - 10 2134 c.2134C>T c.(2134-2136)CCC>TCC p.P712S AGAP2_uc001spp.2_Missense_Mutation_p.P712S|AGAP2_uc001spr.2_Missense_Mutation_p.P376S NM_001122772 NP_001116244 Q99490 AGAP2_HUMAN centaurin, gamma 1 isoform PIKE-L 712 PH. axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding central_nervous_system(3)|breast(2) 5 TTAATACTGGGGTGGTAGAGT 0.453 24 41 --- --- --- --- PASS LRIG3 121227 broad.mit.edu 37 12 59274433 59274433 + Silent SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:59274433C>A uc001sqr.2 - 13 1977 c.1731G>T c.(1729-1731)GGG>GGT p.G577G LRIG3_uc009zqh.2_Silent_p.G517G|LRIG3_uc010ssh.1_RNA NM_153377 NP_700356 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like 577 Ig-like C2-type 1. integral to membrane skin(3)|ovary(1) 4 GBM - Glioblastoma multiforme(1;1.17e-18) ACTGATATTTCCCCTCACTGG 0.463 7 41 --- --- --- --- PASS SLC16A7 9194 broad.mit.edu 37 12 60168610 60168610 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:60168610C>T uc001sqs.2 + 5 833 c.534C>T c.(532-534)TTC>TTT p.F178F SLC16A7_uc001sqt.2_Silent_p.F178F|SLC16A7_uc001squ.2_Silent_p.F178F|SLC16A7_uc009zqi.2_Silent_p.F79F|SLC16A7_uc010ssi.1_Silent_p.F79F NM_004731 NP_004722 O60669 MOT2_HUMAN solute carrier family 16, member 7 178 Helical; (Potential). integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity ovary(1) 1 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) AAGGAAGCTTCCTGATTTTGG 0.428 8 13 --- --- --- --- PASS SRGAP1 57522 broad.mit.edu 37 12 64377732 64377732 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:64377732C>T uc010ssp.1 + 2 129 c.73C>T c.(73-75)CGA>TGA p.R25* SRGAP1_uc001srt.2_Nonsense_Mutation_p.R25*|SRGAP1_uc001srv.2_5'UTR NM_020762 NP_065813 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 25 FCH. axon guidance cytosol ovary(2)|central_nervous_system(2) 4 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) CTTAGAAATTCGAGCTCAACT 0.383 12 47 --- --- --- --- PASS XPOT 11260 broad.mit.edu 37 12 64814175 64814175 + Silent SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:64814175A>T uc001ssb.2 + 8 1143 c.717A>T c.(715-717)CTA>CTT p.L239L XPOT_uc009zqm.1_Silent_p.L149L NM_007235 NP_009166 O43592 XPOT_HUMAN tRNA exportin 239 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding ovary(2) 2 GBM - Glioblastoma multiforme(28;0.0404) TAGAAGTTCTACGGGAAGAAG 0.323 13 30 --- --- --- --- PASS XPOT 11260 broad.mit.edu 37 12 64814176 64814176 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:64814176C>T uc001ssb.2 + 8 1144 c.718C>T c.(718-720)CGG>TGG p.R240W XPOT_uc009zqm.1_Missense_Mutation_p.R150W NM_007235 NP_009166 O43592 XPOT_HUMAN tRNA exportin 240 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding ovary(2) 2 GBM - Glioblastoma multiforme(28;0.0404) AGAAGTTCTACGGGAAGAAGC 0.328 13 30 --- --- --- --- PASS HELB 92797 broad.mit.edu 37 12 66700216 66700216 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:66700216A>G uc001sti.2 + 3 727 c.699A>G c.(697-699)ATA>ATG p.I233M HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA NM_033647 NP_387467 Q8NG08 HELB_HUMAN helicase (DNA) B 233 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity central_nervous_system(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) AATGGATCATAGGGTCAGGTT 0.368 6 47 --- --- --- --- PASS GRIP1 23426 broad.mit.edu 37 12 66771034 66771034 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:66771034C>T uc001stk.2 - 20 2738 c.2497G>A c.(2497-2499)GAA>AAA p.E833K GRIP1_uc010sta.1_Missense_Mutation_p.E777K|GRIP1_uc001stj.2_Missense_Mutation_p.E615K|GRIP1_uc001stl.1_Missense_Mutation_p.E725K|GRIP1_uc001stm.2_Missense_Mutation_p.E833K NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 885 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) TCCTCTTGTTCTGTCTCTGCA 0.448 62 84 --- --- --- --- PASS IL22 50616 broad.mit.edu 37 12 68646567 68646567 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:68646567C>T uc001sty.1 - 2 282 c.229G>A c.(229-231)GAG>AAG p.E77K IL22_uc010stb.1_Missense_Mutation_p.E77K NM_020525 NP_065386 Q9GZX6 IL22_HUMAN interleukin 22 precursor 77 acute-phase response extracellular space cytokine activity|interleukin-22 receptor binding 0 Myeloproliferative disorder(1001;0.0255) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104) AACAGTTTCTCCCCAATGAGA 0.468 27 34 --- --- --- --- PASS PTPRB 5787 broad.mit.edu 37 12 70946555 70946555 + Splice_Site SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:70946555A>G uc001swb.3 - 19 4763 c.4733_splice c.e19+1 p.R1578_splice PTPRB_uc010sto.1_Splice_Site_p.R1488_splice|PTPRB_uc010stp.1_Splice_Site_p.R1488_splice|PTPRB_uc001swc.3_Splice_Site_p.R1796_splice|PTPRB_uc001swa.3_Splice_Site_p.R1708_splice NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 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) AATATATCTAACCTGTAGGCA 0.448 18 20 --- --- --- --- PASS PTPRB 5787 broad.mit.edu 37 12 70954712 70954712 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:70954712G>A uc001swb.3 - 15 3547 c.3517C>T c.(3517-3519)CCA>TCA p.P1173S PTPRB_uc010sto.1_Missense_Mutation_p.P1083S|PTPRB_uc010stp.1_Missense_Mutation_p.P1083S|PTPRB_uc001swc.3_Missense_Mutation_p.P1391S|PTPRB_uc001swa.3_Missense_Mutation_p.P1303S|PTPRB_uc001swd.3_Missense_Mutation_p.P1390S|PTPRB_uc009zrr.1_Missense_Mutation_p.P1270S NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1173 Fibronectin type-III 14.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) ACAGAGGCTGGGACTTAAACA 0.473 24 116 --- --- --- --- PASS PTPRB 5787 broad.mit.edu 37 12 70981045 70981045 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:70981045G>A uc001swb.3 - 7 1429 c.1399C>T c.(1399-1401)CCC>TCC p.P467S PTPRB_uc010sto.1_Missense_Mutation_p.P467S|PTPRB_uc010stp.1_Missense_Mutation_p.P377S|PTPRB_uc001swc.3_Missense_Mutation_p.P685S|PTPRB_uc001swa.3_Missense_Mutation_p.P685S|PTPRB_uc001swd.3_Missense_Mutation_p.P684S|PTPRB_uc009zrr.1_Missense_Mutation_p.P564S NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 467 Fibronectin type-III 6.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) ACAGCCAGGGGGACTGAGGAA 0.458 6 32 --- --- --- --- PASS PTPRR 5801 broad.mit.edu 37 12 71095095 71095095 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:71095095G>A uc001swi.1 - 7 1432 c.1016C>T c.(1015-1017)TCC>TTC p.S339F PTPRR_uc001swh.1_Missense_Mutation_p.S94F|PTPRR_uc009zrs.2_Missense_Mutation_p.S188F|PTPRR_uc010stq.1_Missense_Mutation_p.S227F|PTPRR_uc010str.1_Missense_Mutation_p.S188F NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 339 Cytoplasmic (Potential). in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) AGATACGTTGGACCCTCTTCT 0.403 7 35 --- --- --- --- PASS PTPRR 5801 broad.mit.edu 37 12 71148030 71148030 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:71148030C>T uc001swi.1 - 5 1095 c.679G>A c.(679-681)GGA>AGA p.G227R PTPRR_uc001swh.1_5'UTR|PTPRR_uc009zrs.2_Missense_Mutation_p.G76R|PTPRR_uc010stq.1_Missense_Mutation_p.G115R|PTPRR_uc010str.1_Missense_Mutation_p.G76R NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 227 Extracellular (Potential). in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) GCATAAAATCCTTCTTTGCTC 0.353 9 14 --- --- --- --- PASS LGR5 8549 broad.mit.edu 37 12 71977894 71977894 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:71977894G>A uc001swl.2 + 18 2152 c.2104G>A c.(2104-2106)GGT>AGT p.G702S LGR5_uc001swm.2_Missense_Mutation_p.G678S|LGR5_uc001swn.1_Intron NM_003667 NP_003658 O75473 LGR5_HUMAN leucine-rich repeat-containing G protein-coupled 702 Helical; Name=4; (Potential). integral to plasma membrane protein-hormone receptor activity lung(4)|skin(3)|ovary(1)|pancreas(1) 9 TCCCCTGCTGGGTGGCAGCAA 0.537 17 89 --- --- --- --- PASS THAP2 83591 broad.mit.edu 37 12 72070878 72070878 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:72070878C>T uc001swq.2 + 3 1183 c.677C>T c.(676-678)ACC>ATC p.T226I NM_031435 NP_113623 Q9H0W7 THAP2_HUMAN THAP domain containing, apoptosis associated 226 nucleolus DNA binding|metal ion binding ovary(1) 1 ACCAAGAGTACCTTCATTTAA 0.328 7 29 --- --- --- --- PASS THAP2 83591 broad.mit.edu 37 12 72070879 72070879 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:72070879C>T uc001swq.2 + 3 1184 c.678C>T c.(676-678)ACC>ACT p.T226T NM_031435 NP_113623 Q9H0W7 THAP2_HUMAN THAP domain containing, apoptosis associated 226 nucleolus DNA binding|metal ion binding ovary(1) 1 CCAAGAGTACCTTCATTTAAA 0.328 7 29 --- --- --- --- PASS TRHDE 29953 broad.mit.edu 37 12 73056884 73056884 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:73056884G>A uc001sxa.2 + 19 3014 c.2984G>A c.(2983-2985)CGA>CAA p.R995Q NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 995 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 TCTTTCTCACGAGCTGTGGAA 0.388 15 35 --- --- --- --- PASS OSBPL8 114882 broad.mit.edu 37 12 76763451 76763451 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:76763451G>A uc001sye.1 - 20 2686 c.2206C>T c.(2206-2208)CCA>TCA p.P736S OSBPL8_uc001syf.1_Missense_Mutation_p.P694S|OSBPL8_uc001syg.1_Missense_Mutation_p.P694S|OSBPL8_uc001syh.1_Missense_Mutation_p.P711S NM_020841 NP_065892 Q9BZF1 OSBL8_HUMAN oxysterol-binding protein-like protein 8 isoform 736 lipid transport lipid binding ovary(1) 1 CCTGTGAGTGGATCAAGTTCA 0.353 6 45 --- --- --- --- PASS MYF5 4617 broad.mit.edu 37 12 81111227 81111227 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:81111227C>T uc001szg.2 + 1 520 c.385C>T c.(385-387)CGC>TGC p.R129C NM_005593 NP_005584 P13349 MYF5_HUMAN myogenic factor 5 129 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(1) 1 GAATGCCATCCGCTACATCGA 0.587 41 53 --- --- --- --- PASS ACSS3 79611 broad.mit.edu 37 12 81528754 81528754 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:81528754G>A uc001szl.1 + 3 707 c.616G>A c.(616-618)GAA>AAA p.E206K ACSS3_uc001szm.1_Missense_Mutation_p.E205K NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 206 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 TGCTTCCAAAGAACTAAGTAG 0.383 16 20 --- --- --- --- PASS PPFIA2 8499 broad.mit.edu 37 12 81741342 81741342 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:81741342C>T uc001szo.1 - 18 2363 c.2202G>A c.(2200-2202)AGG>AGA p.R734R PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_Intron NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 660 ovary(3)|lung(2)|pancreas(1) 6 GATCCATTTCCCTGGCAGGGC 0.473 11 93 --- --- --- --- PASS PPFIA2 8499 broad.mit.edu 37 12 81741515 81741515 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:81741515G>A uc001szo.1 - 18 2190 c.2029C>T c.(2029-2031)CGT>TGT p.R677C PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 603 ovary(3)|lung(2)|pancreas(1) 6 TCTTCAGCACGCAACTCTGTA 0.398 27 27 --- --- --- --- PASS ALX1 8092 broad.mit.edu 37 12 85695207 85695207 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:85695207G>A uc001tae.3 + 4 939 c.935G>A c.(934-936)CGA>CAA p.R312Q NM_006982 NP_008913 Q15699 ALX1_HUMAN cartilage paired-class homeoprotein 1 312 OAR. brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(134;0.134) GCAGTTCTTCGAATGAAAGCC 0.378 30 32 --- --- --- --- PASS CEP290 80184 broad.mit.edu 37 12 88512511 88512511 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:88512511G>A uc001tar.2 - 16 1876 c.1532C>T c.(1531-1533)CCA>CTA p.P511L CEP290_uc001tat.2_Missense_Mutation_p.P273L|CEP290_uc009zsl.1_RNA NM_025114 NP_079390 O15078 CE290_HUMAN centrosomal protein 290kDa 511 Potential. cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding ovary(5)|breast(1)|pancreas(1) 7 CATTGTCTTTGGTTCAAGGCC 0.313 21 22 --- --- --- --- PASS C12orf74 338809 broad.mit.edu 37 12 93100563 93100563 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:93100563G>A uc001tch.1 + 2 386 c.156G>A c.(154-156)AGG>AGA p.R52R C12orf74_uc001tci.2_Silent_p.R52R NM_001037671 NP_001032760 Q32Q52 CL074_HUMAN hypothetical protein LOC338809 52 0 CCACTTTGAGGAGATTAAGGA 0.627 19 16 --- --- --- --- PASS PLEKHG7 440107 broad.mit.edu 37 12 93147976 93147976 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:93147976G>A uc001tcj.2 + 6 656 c.426G>A c.(424-426)AGG>AGA p.R142R NM_001004330 NP_001004330 Q6ZR37 PKHG7_HUMAN pleckstrin homology domain containing, family G 142 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(1) 1 TCTGGAAAAGGAGCATGGACT 0.463 21 30 --- --- --- --- PASS CCDC41 51134 broad.mit.edu 37 12 94806173 94806173 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:94806173G>T uc001tdd.2 - 3 680 c.94C>A c.(94-96)CAG>AAG p.Q32K CCDC41_uc001tde.2_Missense_Mutation_p.Q32K|CCDC41_uc009zsw.1_RNA|CCDC41_uc001tdf.2_Missense_Mutation_p.Q32K NM_016122 NP_057206 Q9Y592 CCD41_HUMAN NY-REN-58 antigen 24 0 AACATTTTCTGGAACTCCGAC 0.378 5 62 --- --- --- --- PASS C12orf63 374467 broad.mit.edu 37 12 97102582 97102582 + Splice_Site SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:97102582G>A uc001tet.1 + 15 2077 c.1999_splice c.e15+1 p.E667_splice NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 skin(6)|ovary(1) 7 AACTTGGAAGGTAATTGTTTT 0.348 4 24 --- --- --- --- PASS ANKS1B 56899 broad.mit.edu 37 12 99446974 99446974 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:99446974C>T uc001tge.1 - 17 3156 c.2739G>A c.(2737-2739)ATG>ATA p.M913I ANKS1B_uc001tgf.1_Missense_Mutation_p.M489I|ANKS1B_uc001tgk.2_Missense_Mutation_p.M210I|ANKS1B_uc001tgd.1_Missense_Mutation_p.M139I|ANKS1B_uc001tgi.2_Missense_Mutation_p.M139I|ANKS1B_uc009ztr.2_Missense_Mutation_p.M139I|ANKS1B_uc001tgj.2_Missense_Mutation_p.M139I|ANKS1B_uc001tgg.3_Missense_Mutation_p.M82I|ANKS1B_uc010svg.1_Missense_Mutation_p.M108I|ANKS1B_uc009zts.1_Missense_Mutation_p.M139I|ANKS1B_uc001tgm.1_Missense_Mutation_p.M139I NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 913 SAM 2. Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TCAACAGGTCCATCGAAGTGT 0.403 7 8 --- --- --- --- PASS FAM71C 196472 broad.mit.edu 37 12 100042451 100042451 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:100042451G>A uc001tgn.2 + 1 921 c.499G>A c.(499-501)GAA>AAA p.E167K ANKS1B_uc001tge.1_Intron|ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron NM_153364 NP_699195 Q8NEG0 FA71C_HUMAN hypothetical protein LOC196472 167 0 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) TGTTCACTGGGAAAACCTTGT 0.488 24 12 --- --- --- --- PASS ACTR6 64431 broad.mit.edu 37 12 100603946 100603946 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:100603946C>T uc001thb.1 + 5 531 c.475C>T c.(475-477)CCT>TCT p.P159S ACTR6_uc001thc.1_Missense_Mutation_p.P51S|ACTR6_uc001thd.1_Missense_Mutation_p.P159S|ACTR6_uc009ztu.1_Intron|ACTR6_uc001the.1_Missense_Mutation_p.P77S|ACTR6_uc001thf.1_Missense_Mutation_p.P77S|uc001thg.1_Intron NM_022496 NP_071941 Q9GZN1 ARP6_HUMAN ARP6 actin-related protein 6 homolog 159 cytoplasm|cytoskeleton ovary(1) 1 ACATATAGTTCCTTATTGTAG 0.323 14 48 --- --- --- --- PASS SLC17A8 246213 broad.mit.edu 37 12 100774480 100774480 + Nonsense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:100774480A>T uc010svi.1 + 2 416 c.103A>T c.(103-105)AAA>TAA p.K35* SLC17A8_uc009ztx.2_Nonsense_Mutation_p.K35* NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 35 Cytoplasmic (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 CCCATGTAGAAAAATCGATGG 0.433 10 81 --- --- --- --- PASS GAS2L3 283431 broad.mit.edu 37 12 101018440 101018440 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:101018440C>T uc001thu.2 + 10 2083 c.1857C>T c.(1855-1857)CCC>CCT p.P619P GAS2L3_uc009zty.2_Silent_p.P619P|GAS2L3_uc001thv.2_Silent_p.P515P NM_174942 NP_777602 Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 619 cell cycle arrest skin(1) 1 TGAGCCTACCCCAGTCTTCTA 0.517 6 35 --- --- --- --- PASS SLC5A8 160728 broad.mit.edu 37 12 101603489 101603489 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:101603489C>T uc001thz.3 - 1 528 c.138G>A c.(136-138)CTG>CTA p.L46L NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), 46 Cytoplasmic (Potential). apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 GGCCGCCCATCAGGAAGTCCT 0.662 4 20 --- --- --- --- PASS MYBPC1 4604 broad.mit.edu 37 12 102038442 102038442 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:102038442C>T uc001tii.2 + 10 860 c.758C>T c.(757-759)GCT>GTT p.A253V MYBPC1_uc001tif.1_Missense_Mutation_p.A266V|MYBPC1_uc001tig.2_Missense_Mutation_p.A278V|MYBPC1_uc010svq.1_Missense_Mutation_p.A240V|MYBPC1_uc001tih.2_Missense_Mutation_p.A278V|MYBPC1_uc001tij.2_Missense_Mutation_p.A253V|MYBPC1_uc010svr.1_Missense_Mutation_p.A253V|MYBPC1_uc010svs.1_Missense_Mutation_p.A253V|MYBPC1_uc010svt.1_Missense_Mutation_p.A241V|MYBPC1_uc010svu.1_Missense_Mutation_p.A234V|MYBPC1_uc001tik.2_Missense_Mutation_p.A227V NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 253 Ig-like C2-type 2. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 ATTCTATCAGCTTTTGCAAAA 0.348 4 33 --- --- --- --- PASS IGF1 3479 broad.mit.edu 37 12 102869442 102869442 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:102869442C>T uc001tjp.3 - 2 418 c.199G>A c.(199-201)GGA>AGA p.G67R IGF1_uc001tjn.2_Missense_Mutation_p.G51R|IGF1_uc001tjm.2_Missense_Mutation_p.G67R|IGF1_uc001tjo.2_Missense_Mutation_p.G67R NM_001111285 NP_001104755 P05019 IGF1_HUMAN insulin-like growth factor 1 isoform 3 67 B. anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration platelet alpha granule lumen growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding central_nervous_system(1)|pancreas(1) 2 CCCCTGTCTCCACACACGAAC 0.562 14 45 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 104063394 104063394 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:104063394G>A uc001tjw.2 + 21 2434 c.2248G>A c.(2248-2250)GGA>AGA p.G750R NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 750 Extracellular (Potential).|EGF-like 6. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 TCCATGCTCAGGAAATGGACA 0.413 19 28 --- --- --- --- PASS WSCD2 9671 broad.mit.edu 37 12 108589759 108589759 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:108589759G>A uc001tms.2 + 2 894 c.150G>A c.(148-150)GCG>GCA p.A50A WSCD2_uc001tmt.2_Silent_p.A50A NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN WSC domain containing 2 50 integral to membrane ovary(1)|large_intestine(1)|breast(1) 3 GGAACCAGGCGAACCCCGCTG 0.607 17 76 --- --- --- --- PASS TMEM119 338773 broad.mit.edu 37 12 108985911 108985911 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:108985911G>A uc001tng.2 - 2 412 c.249C>T c.(247-249)TTC>TTT p.F83F TMEM119_uc001tnf.2_RNA NM_181724 NP_859075 Q4V9L6 TM119_HUMAN transmembrane protein 119 precursor 83 Extracellular (Potential). integral to membrane ovary(1) 1 TCCCATCCAGGAAGTTGGTGG 0.652 8 25 --- --- --- --- PASS SVOP 55530 broad.mit.edu 37 12 109306389 109306389 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:109306389C>T uc010sxh.1 - 15 1741 c.1569G>A c.(1567-1569)CGG>CGA p.R523R NM_018711 NP_061181 Q8N4V2 SVOP_HUMAN SV2 related protein 523 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity 0 GGCCCCACTCCCGGTGGCTGG 0.617 22 72 --- --- --- --- PASS ACACB 32 broad.mit.edu 37 12 109677647 109677647 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:109677647G>A uc001tob.2 + 35 4794 c.4675G>A c.(4675-4677)GAA>AAA p.E1559K ACACB_uc001toc.2_Missense_Mutation_p.E1559K|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.E225K NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 1559 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) AGCCTCCTTCGAATACCTGCA 0.622 10 7 --- --- --- --- PASS ACACB 32 broad.mit.edu 37 12 109696794 109696794 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:109696794G>A uc001tob.2 + 47 6496 c.6377G>A c.(6376-6378)GGA>GAA p.G2126E ACACB_uc001toc.2_Missense_Mutation_p.G2126E|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.G792E NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 2126 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) CAGCAGGCAGGACAGGTGTGG 0.582 OREG0007682 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=ACACB|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 27 131 --- --- --- --- PASS FOXN4 121643 broad.mit.edu 37 12 109724543 109724543 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:109724543C>T uc001toe.3 - 7 708 c.603G>A c.(601-603)CTG>CTA p.L201L FOXN4_uc009zvg.2_5'UTR|FOXN4_uc001tof.3_Silent_p.L21L NM_213596 NP_998761 Q96NZ1 FOXN4_HUMAN forkhead box N4 201 Fork-head. 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 CCATGGCGATCAGACAGCTGG 0.478 8 10 --- --- --- --- PASS CUX2 23316 broad.mit.edu 37 12 111744784 111744784 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:111744784G>A uc001tsa.1 + 11 1071 c.918G>A c.(916-918)AAG>AAA p.K306K NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 306 Potential. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 TGGCCTCCAAGGACAGGGAGA 0.642 15 21 --- --- --- --- PASS CUX2 23316 broad.mit.edu 37 12 111779756 111779756 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:111779756C>T uc001tsa.1 + 21 3711 c.3558C>T c.(3556-3558)GCC>GCT p.A1186A NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 1186 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 TGCGGAAGGCCTATCAGCTGG 0.622 15 24 --- --- --- --- PASS CUX2 23316 broad.mit.edu 37 12 111785937 111785937 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:111785937C>T uc001tsa.1 + 22 4422 c.4269C>T c.(4267-4269)TCC>TCT p.S1423S NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 1423 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 TCTCCCCATCCCCACCTGGCG 0.657 7 29 --- --- --- --- PASS ACAD10 80724 broad.mit.edu 37 12 112147356 112147356 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:112147356C>T uc001tsq.2 + 5 758 c.558C>T c.(556-558)ATC>ATT p.I186I ACAD10_uc009zvw.2_Silent_p.I186I|ACAD10_uc001tso.3_Silent_p.I186I|ACAD10_uc001tsp.2_Silent_p.I186I|ACAD10_uc009zvx.2_Silent_p.I186I|ACAD10_uc001tsr.2_5'Flank NM_025247 NP_079523 Q6JQN1 ACD10_HUMAN acyl-Coenzyme A dehydrogenase family, member 10 186 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups ovary(2) 2 TGGAAGGGATCTGTAAGCCAG 0.498 7 18 --- --- --- --- PASS ACAD10 80724 broad.mit.edu 37 12 112184986 112184986 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:112184986C>T uc001tsq.2 + 15 2590 c.2390C>T c.(2389-2391)CCC>CTC p.P797L ACAD10_uc001tsp.2_Missense_Mutation_p.P797L|ACAD10_uc009zvx.2_Missense_Mutation_p.P828L|ACAD10_uc001tss.1_RNA NM_025247 NP_079523 Q6JQN1 ACD10_HUMAN acyl-Coenzyme A dehydrogenase family, member 10 797 FAD (By similarity). acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups ovary(2) 2 ATGACCGAGCCCCAGGTACGT 0.622 13 12 --- --- --- --- PASS OAS1 4938 broad.mit.edu 37 12 113355404 113355404 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:113355404C>T uc001tud.2 + 5 1043 c.937C>T c.(937-939)CCA>TCA p.P313S OAS1_uc001tub.2_Missense_Mutation_p.P313S|OAS1_uc001tuc.2_Missense_Mutation_p.P313S|OAS1_uc009zwf.2_Missense_Mutation_p.P312S NM_016816 NP_058132 P00973 OAS1_HUMAN 2',5'-oligoadenylate synthetase 1 isoform 1 313 interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding ovary(2) 2 TGGTGGAGACCCAAAGGGTTG 0.577 20 73 --- --- --- --- PASS RASAL1 8437 broad.mit.edu 37 12 113543661 113543661 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:113543661G>A uc001tum.1 - 17 1978 c.1685C>T c.(1684-1686)CCG>CTG p.P562L RASAL1_uc010syp.1_Missense_Mutation_p.P563L|RASAL1_uc001tul.2_Missense_Mutation_p.P562L|RASAL1_uc001tun.1_Missense_Mutation_p.P564L|RASAL1_uc010syq.1_Missense_Mutation_p.P563L|RASAL1_uc001tuo.3_Missense_Mutation_p.P563L NM_004658 NP_004649 O95294 RASL1_HUMAN RAS protein activator like 1 562 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity ovary(2)|skin(2) 4 GGCCGAGGGCGGGAACAGGGC 0.622 13 17 --- --- --- --- PASS TBX3 6926 broad.mit.edu 37 12 115118751 115118751 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:115118751C>T uc001tvt.1 - 2 1554 c.590G>A c.(589-591)TGG>TAG p.W197* TBX3_uc001tvu.1_Nonsense_Mutation_p.W197*|TBX3_uc010syw.1_Nonsense_Mutation_p.W197* NM_016569 NP_057653 O15119 TBX3_HUMAN T-box 3 protein isoform 2 197 T-box; first part. anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding ovary(2)|skin(1) 3 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) TTTGGACATCCACTGTTCCCC 0.453 31 38 --- --- --- --- PASS FBXW8 26259 broad.mit.edu 37 12 117448145 117448145 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:117448145G>T uc001twg.1 + 8 1339 c.1257G>T c.(1255-1257)CTG>CTT p.L419L FBXW8_uc001twf.1_Silent_p.L353L|FBXW8_uc009zwp.1_RNA NM_153348 NP_699179 Q8N3Y1 FBXW8_HUMAN F-box and WD repeat domain containing 8 isoform 419 protein binding ovary(2)|pancreas(1) 3 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0353) TGTATAGCCTGGAAGCAGGAC 0.537 25 30 --- --- --- --- PASS FBXW8 26259 broad.mit.edu 37 12 117448146 117448146 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:117448146G>A uc001twg.1 + 8 1340 c.1258G>A c.(1258-1260)GAA>AAA p.E420K FBXW8_uc001twf.1_Missense_Mutation_p.E354K|FBXW8_uc009zwp.1_RNA NM_153348 NP_699179 Q8N3Y1 FBXW8_HUMAN F-box and WD repeat domain containing 8 isoform 420 protein binding ovary(2)|pancreas(1) 3 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0353) GTATAGCCTGGAAGCAGGACG 0.532 24 32 --- --- --- --- PASS FBXW8 26259 broad.mit.edu 37 12 117465849 117465849 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:117465849C>T uc001twg.1 + 11 1751 c.1669C>T c.(1669-1671)CGC>TGC p.R557C FBXW8_uc001twf.1_Missense_Mutation_p.R491C|FBXW8_uc009zwp.1_RNA NM_153348 NP_699179 Q8N3Y1 FBXW8_HUMAN F-box and WD repeat domain containing 8 isoform 557 protein binding ovary(2)|pancreas(1) 3 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0353) GGGGCTGATCCGCGCCTATGA 0.622 8 19 --- --- --- --- PASS SRRM4 84530 broad.mit.edu 37 12 119419693 119419693 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:119419693G>A uc001txa.1 + 1 298 c.6G>A c.(4-6)GCG>GCA p.A2A NM_194286 NP_919262 A7MD48 SRRM4_HUMAN KIAA1853 protein 2 cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding ovary(2) 2 TGGCGATGGCGAGCGTTCAGC 0.627 7 10 --- --- --- --- PASS CIT 11113 broad.mit.edu 37 12 120288021 120288021 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:120288021G>A uc001txi.1 - 5 526 c.473C>T c.(472-474)CCC>CTC p.P158L CIT_uc001txj.1_Missense_Mutation_p.P158L NM_007174 NP_009105 O14578 CTRO_HUMAN citron 158 Protein kinase. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CTGTAATTGGGGGATCCACGG 0.413 107 111 --- --- --- --- PASS GCN1L1 10985 broad.mit.edu 37 12 120597799 120597799 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:120597799C>T uc001txo.2 - 24 2592 c.2579G>A c.(2578-2580)GGA>GAA p.G860E NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 860 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTCCAGCAGTCCAAGCGCCGC 0.602 8 29 --- --- --- --- PASS GCN1L1 10985 broad.mit.edu 37 12 120616465 120616465 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:120616465G>A uc001txo.2 - 7 636 c.623C>T c.(622-624)ACG>ATG p.T208M NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 208 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTTGTGACTCGTGCAGAACTG 0.572 24 26 --- --- --- --- PASS CABP1 9478 broad.mit.edu 37 12 121098004 121098004 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:121098004C>T uc001tyu.2 + 3 758 c.691C>T c.(691-693)CGA>TGA p.R231* CABP1_uc001tyv.2_Nonsense_Mutation_p.R88*|CABP1_uc001tyw.2_Nonsense_Mutation_p.R28*|CABP1_uc001tyx.2_Nonsense_Mutation_p.R73* NM_001033677 NP_001028849 Q9NZU7 CABP1_HUMAN calcium binding protein 1 isoform 3 231 EF-hand 1. cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding central_nervous_system(1) 1 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCCAGAGCTCCGAGAGGCCTT 0.592 7 51 --- --- --- --- PASS MLEC 9761 broad.mit.edu 37 12 121134306 121134306 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:121134306C>T uc001tyy.1 + 5 988 c.837C>T c.(835-837)TTC>TTT p.F279F NM_014730 NP_055545 Q14165 MLEC_HUMAN malectin precursor 279 Helical; (Potential). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding ovary(1) 1 TGGTGGCCTTCGGAGTCTTCA 0.542 83 84 --- --- --- --- PASS UNC119B 84747 broad.mit.edu 37 12 121154450 121154450 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:121154450G>A uc001tyz.2 + 3 825 c.378G>A c.(376-378)GAG>GAA p.E126E NM_001080533 NP_001074002 A6NIH7 U119B_HUMAN unc-119 homolog B 126 haematopoietic_and_lymphoid_tissue(1) 1 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AGGATGAGGAGGAGGGAGGTG 0.542 47 81 --- --- --- --- PASS UNC119B 84747 broad.mit.edu 37 12 121154451 121154451 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:121154451G>A uc001tyz.2 + 3 826 c.379G>A c.(379-381)GAG>AAG p.E127K NM_001080533 NP_001074002 A6NIH7 U119B_HUMAN unc-119 homolog B 127 haematopoietic_and_lymphoid_tissue(1) 1 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GGATGAGGAGGAGGGAGGTGG 0.547 48 81 --- --- --- --- PASS KDM2B 84678 broad.mit.edu 37 12 121947413 121947413 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:121947413G>A uc001uat.2 - 11 1708 c.1604C>T c.(1603-1605)CCC>CTC p.P535L KDM2B_uc001uar.2_Missense_Mutation_p.P126L|KDM2B_uc001uas.2_Missense_Mutation_p.P504L|KDM2B_uc001uau.2_Missense_Mutation_p.P418L|KDM2B_uc001uav.3_Missense_Mutation_p.P445L NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN F-box and leucine-rich repeat protein 10 isoform 535 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding ovary(1)|skin(1) 2 GATGCCCTCGGGGACACACTT 0.627 7 30 --- --- --- --- PASS KDM2B 84678 broad.mit.edu 37 12 121986815 121986815 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:121986815G>A uc001uat.2 - 6 754 c.650C>T c.(649-651)GCC>GTC p.A217V KDM2B_uc001uas.2_Missense_Mutation_p.A186V|KDM2B_uc001uau.2_Missense_Mutation_p.A100V|KDM2B_uc001uav.3_Missense_Mutation_p.A217V NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN F-box and leucine-rich repeat protein 10 isoform 217 JmjC. embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding ovary(1)|skin(1) 2 CTCTGCAATGGCGTTCGTGGC 0.577 20 29 --- --- --- --- PASS MLXIP 22877 broad.mit.edu 37 12 122619802 122619802 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:122619802C>T uc001ubq.2 + 10 1764 c.1764C>T c.(1762-1764)ATC>ATT p.I588I MLXIP_uc001ubt.2_Silent_p.I195I NM_014938 NP_055753 Q9HAP2 MLXIP_HUMAN MLX interacting protein 588 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding ovary(2) 2 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) AAGCGGTGATCATGACGTCAG 0.627 4 20 --- --- --- --- PASS LRRC43 254050 broad.mit.edu 37 12 122685097 122685097 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:122685097G>A uc009zxm.2 + 9 1535 c.1510G>A c.(1510-1512)GTG>ATG p.V504M LRRC43_uc001ubw.3_Missense_Mutation_p.V319M|LRRC43_uc009zxn.2_Missense_Mutation_p.V265M NM_001098519 NP_001091989 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 isoform 1 504 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) CTGGCCTGTGGTGCTACCTGC 0.413 14 72 --- --- --- --- PASS LRRC43 254050 broad.mit.edu 37 12 122685424 122685424 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:122685424C>T uc009zxm.2 + 10 1777 c.1752C>T c.(1750-1752)ACC>ACT p.T584T LRRC43_uc001ubw.3_Silent_p.T399T|LRRC43_uc009zxn.2_Silent_p.T345T|B3GNT4_uc001ubx.2_5'Flank|B3GNT4_uc001uby.2_5'Flank NM_001098519 NP_001091989 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 isoform 1 584 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) TGGTGTCCACCGTGTGCAACT 0.692 7 11 --- --- --- --- PASS VPS33A 65082 broad.mit.edu 37 12 122748207 122748207 + Missense_Mutation SNP G A A rs150472752 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:122748207G>A uc001ucd.2 - 3 321 c.208C>T c.(208-210)CGT>TGT p.R70C VPS33A_uc001ucc.2_RNA|VPS33A_uc001uce.2_Missense_Mutation_p.R70C NM_022916 NP_075067 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33A 70 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding skin(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) GCCGGCAAACGATTTCCTTTA 0.373 13 23 --- --- --- --- PASS MPHOSPH9 10198 broad.mit.edu 37 12 123641363 123641363 + Silent SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:123641363T>C uc001uel.2 - 20 3194 c.3087A>G c.(3085-3087)GCA>GCG p.A1029A MPHOSPH9_uc010tal.1_Silent_p.A483A|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Silent_p.A483A NM_022782 NP_073619 Q99550 MPP9_HUMAN M-phase phosphoprotein 9 1029 M phase of mitotic cell cycle centriole|Golgi membrane 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) CTCAAAGATTTGCAGAGGTGC 0.363 6 7 --- --- --- --- PASS DDX55 57696 broad.mit.edu 37 12 124090657 124090657 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:124090657C>T uc001ufi.2 + 3 221 c.197C>T c.(196-198)CCC>CTC p.P66L DDX55_uc001ufh.2_5'UTR|DDX55_uc001ufj.1_5'UTR|DDX55_uc001ufk.2_5'Flank NM_020936 NP_065987 Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 66 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding p.P66R(1) ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) TTTGTCATCCCCATCCTGGAA 0.428 4 35 --- --- --- --- PASS ATP6V0A2 23545 broad.mit.edu 37 12 124212439 124212439 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:124212439C>T uc001ufr.2 + 6 879 c.631C>T c.(631-633)CTT>TTT p.L211F ATP6V0A2_uc001ufq.1_Missense_Mutation_p.L211F NM_012463 NP_036595 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 211 Cytoplasmic (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) GGATGAATCCCTTGAAGACCC 0.403 6 21 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124325914 124325914 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:124325914G>A uc001uft.3 + 29 4853 c.4828G>A c.(4828-4830)GGA>AGA p.G1610R NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1610 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CGGCGATAGTGGAGAAAAACT 0.522 81 105 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124341675 124341675 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:124341675C>T uc001uft.3 + 36 6182 c.6157C>T c.(6157-6159)CTT>TTT p.L2053F NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2053 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TCCTCTTTTCCTTGGTTTGAT 0.512 7 55 --- --- --- --- PASS ZNF664 144348 broad.mit.edu 37 12 124497275 124497275 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:124497275G>A uc001ufz.2 + 6 2414 c.584G>A c.(583-585)GGA>GAA p.G195E ZNF664_uc001uga.2_Missense_Mutation_p.G195E|ZNF664_uc001ugb.2_Missense_Mutation_p.G195E NM_152437 NP_689650 Q8N3J9 ZN664_HUMAN zinc finger protein 664 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249) GTCCACACTGGAGAGAAACCC 0.498 47 53 --- --- --- --- PASS ZNF664 144348 broad.mit.edu 37 12 124497277 124497277 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:124497277G>A uc001ufz.2 + 6 2416 c.586G>A c.(586-588)GAG>AAG p.E196K ZNF664_uc001uga.2_Missense_Mutation_p.E196K|ZNF664_uc001ugb.2_Missense_Mutation_p.E196K NM_152437 NP_689650 Q8N3J9 ZN664_HUMAN zinc finger protein 664 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249) CCACACTGGAGAGAAACCCTA 0.498 48 52 --- --- --- --- PASS FAM101A 144347 broad.mit.edu 37 12 124798882 124798882 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:124798882C>T uc001ugd.1 + 3 462 c.219C>T c.(217-219)ACC>ACT p.T73T FAM101A_uc001uge.1_Silent_p.T73T NM_181709 NP_859060 Q6ZTI6 F101A_HUMAN hypothetical protein LOC144347 154 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059) GCCAGCTGACCCTGGAGCCAC 0.657 5 32 --- --- --- --- PASS SCARB1 949 broad.mit.edu 37 12 125292364 125292364 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:125292364C>T uc001ugo.3 - 7 1205 c.952G>A c.(952-954)GAA>AAA p.E318K SCARB1_uc001ugn.3_Missense_Mutation_p.E318K|SCARB1_uc001ugm.3_Missense_Mutation_p.E318K|SCARB1_uc010tbd.1_Missense_Mutation_p.E318K|SCARB1_uc010tbe.1_Missense_Mutation_p.E277K|SCARB1_uc001ugp.3_Missense_Mutation_p.E318K NM_005505 NP_005496 Q8WTV0 SCRB1_HUMAN scavenger receptor class B, member 1 isoform 1 318 Extracellular (Potential). adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing caveola 1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity kidney(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395) Phosphatidylserine(DB00144) CAGAAGCCTTCGTTGGGTGGG 0.587 22 25 --- --- --- --- PASS TMEM132B 114795 broad.mit.edu 37 12 126138226 126138226 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:126138226C>T uc001uhe.1 + 9 2215 c.2207C>T c.(2206-2208)TCT>TTT p.S736F TMEM132B_uc001uhf.1_Missense_Mutation_p.S248F NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 736 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) ATGGTGGTGTCTGTCCAGGCA 0.418 29 35 --- --- --- --- PASS TMEM132B 114795 broad.mit.edu 37 12 126139082 126139082 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:126139082G>A uc001uhe.1 + 9 3071 c.3063G>A c.(3061-3063)AGG>AGA p.R1021R TMEM132B_uc001uhf.1_Silent_p.R533R NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 1021 Cytoplasmic (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GCCCAAAGAGGAAGAGAGTCA 0.458 19 23 --- --- --- --- PASS TMEM132D 121256 broad.mit.edu 37 12 129558431 129558431 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:129558431C>T uc009zyl.1 - 9 3617 c.3289G>A c.(3289-3291)GAA>AAA p.E1097K TMEM132D_uc001uia.2_Missense_Mutation_p.E635K NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 1097 Cytoplasmic (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TACACATTTTCATGTAACCTC 0.493 24 28 --- --- --- --- PASS TMEM132D 121256 broad.mit.edu 37 12 129558939 129558939 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:129558939G>A uc009zyl.1 - 9 3109 c.2781C>T c.(2779-2781)TTC>TTT p.F927F TMEM132D_uc001uia.2_Silent_p.F465F NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 927 Helical; (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TGGCCAAACAGAAGACTCCCA 0.458 31 46 --- --- --- --- PASS RIMBP2 23504 broad.mit.edu 37 12 130941081 130941081 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:130941081G>A uc001uil.2 - 4 431 c.267C>T c.(265-267)TTC>TTT p.F89F RIMBP2_uc001uim.2_5'UTR NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 89 cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TGAACTGTGGGAAAGGCTTGC 0.647 11 17 --- --- --- --- PASS GPR133 283383 broad.mit.edu 37 12 131590383 131590383 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:131590383C>T uc001uit.3 + 17 2419 c.1860C>T c.(1858-1860)CTC>CTT p.L620L GPR133_uc010tbm.1_Silent_p.L652L|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Silent_p.L139L|GPR133_uc009zyp.2_RNA NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 620 Helical; Name=2; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TCCTGCTGCTCATTAGTTTCC 0.652 11 10 --- --- --- --- PASS EP400 57634 broad.mit.edu 37 12 132471210 132471210 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:132471210C>T uc001ujn.2 + 5 2116 c.2081C>T c.(2080-2082)GCC>GTC p.A694V EP400_uc001ujl.2_Missense_Mutation_p.A693V|EP400_uc001ujm.2_Missense_Mutation_p.A694V|EP400_uc001ujj.1_Missense_Mutation_p.A657V|EP400_uc001ujk.2_Missense_Mutation_p.A730V NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 730 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CCTTCCTCAGCCACCAATAAG 0.617 10 51 --- --- --- --- PASS P2RX2 22953 broad.mit.edu 37 12 133196311 133196311 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:133196311C>T uc001ukj.1 + 3 356 c.356C>T c.(355-357)TCC>TTC p.S119F P2RX2_uc001uki.1_Missense_Mutation_p.S119F|P2RX2_uc001ukk.1_Missense_Mutation_p.S119F|P2RX2_uc001ukl.1_Intron|P2RX2_uc001ukm.1_Intron|P2RX2_uc001ukn.1_Intron|P2RX2_uc009zyt.1_Missense_Mutation_p.S119F|P2RX2_uc001uko.1_Intron NM_170682 NP_733782 Q9UBL9 P2RX2_HUMAN purinergic receptor P2X2 isoform A 119 Extracellular (Potential). positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization integral to membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0767) OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06) GCCACCCACTCCCAGACCCAG 0.731 7 5 --- --- --- --- PASS POLE 5426 broad.mit.edu 37 12 133218806 133218806 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:133218806G>A uc001uks.1 - 38 5174 c.5130C>T c.(5128-5130)GAC>GAT p.D1710D POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Silent_p.D514D|POLE_uc010tbq.1_RNA NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 1710 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CAGTGGCTTGGTCATCGAACT 0.572 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 30 37 --- --- --- --- PASS ANKLE2 23141 broad.mit.edu 37 12 133304630 133304630 + Nonsense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:133304630G>T uc001ukx.2 - 12 2670 c.2603C>A c.(2602-2604)TCG>TAG p.S868* ANKLE2_uc009zyw.1_Nonsense_Mutation_p.S223* NM_015114 NP_055929 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 868 cytoplasm|integral to membrane|nuclear envelope 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) CTGTCTGTCCGAGGGTGAGTA 0.577 5 105 --- --- --- --- PASS CHFR 55743 broad.mit.edu 37 12 133435753 133435753 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:133435753G>A uc001ulf.2 - 8 932 c.848C>T c.(847-849)ACC>ATC p.T283I CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.T271I|CHFR_uc010tbs.1_Missense_Mutation_p.T283I|CHFR_uc001uld.2_Missense_Mutation_p.T242I|CHFR_uc010tbt.1_Missense_Mutation_p.T191I NM_001161344 NP_001154816 Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains 283 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(1) 1 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) CTCGTGGACGGTTTGGGCATT 0.572 14 22 --- --- --- --- PASS TPTE2 93492 broad.mit.edu 37 13 19999111 19999111 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:19999111T>C uc001umd.2 - 20 1653 c.1442A>G c.(1441-1443)AAC>AGC p.N481S TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.N370S|TPTE2_uc001ume.2_Missense_Mutation_p.N404S|TPTE2_uc009zzm.2_Missense_Mutation_p.N152S|TPTE2_uc010tcm.1_RNA|TPTE2_uc010tcl.1_Missense_Mutation_p.N152S NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN TPTE and PTEN homologous inositol lipid 481 C2 tensin-type. 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) AAAAGACGTGTTGAACCAGAA 0.294 4 12 --- --- --- --- PASS XPO4 64328 broad.mit.edu 37 13 21362645 21362645 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:21362645G>A uc001unq.3 - 20 3063 c.3027C>T c.(3025-3027)TCC>TCT p.S1009S NM_022459 NP_071904 Q9C0E2 XPO4_HUMAN exportin 4 1009 protein transport cytoplasm|nucleus protein binding large_intestine(1)|ovary(1)|kidney(1) 3 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) CTAATTCTAGGGAGTACATCA 0.308 12 19 --- --- --- --- PASS XPO4 64328 broad.mit.edu 37 13 21362646 21362646 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:21362646G>A uc001unq.3 - 20 3062 c.3026C>T c.(3025-3027)TCC>TTC p.S1009F NM_022459 NP_071904 Q9C0E2 XPO4_HUMAN exportin 4 1009 protein transport cytoplasm|nucleus protein binding large_intestine(1)|ovary(1)|kidney(1) 3 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) TAATTCTAGGGAGTACATCAG 0.308 12 20 --- --- --- --- PASS XPO4 64328 broad.mit.edu 37 13 21417152 21417152 + Silent SNP A C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:21417152A>C uc001unq.3 - 6 645 c.609T>G c.(607-609)GTT>GTG p.V203V XPO4_uc010tcr.1_Silent_p.V129V NM_022459 NP_071904 Q9C0E2 XPO4_HUMAN exportin 4 203 protein transport cytoplasm|nucleus protein binding large_intestine(1)|ovary(1)|kidney(1) 3 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) GCAGAACTTCAACAGTTAACA 0.378 11 21 --- --- --- --- PASS XPO4 64328 broad.mit.edu 37 13 21442736 21442736 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:21442736C>T uc001unq.3 - 2 210 c.174G>A c.(172-174)TTG>TTA p.L58L XPO4_uc010tcr.1_Intron NM_022459 NP_071904 Q9C0E2 XPO4_HUMAN exportin 4 58 protein transport cytoplasm|nucleus protein binding large_intestine(1)|ovary(1)|kidney(1) 3 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) AATACTTACCCAAAATATGCT 0.318 5 30 --- --- --- --- PASS LATS2 26524 broad.mit.edu 37 13 21562372 21562372 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:21562372G>A uc009zzs.2 - 4 1912 c.1547C>T c.(1546-1548)CCG>CTG p.P516L LATS2_uc001unr.3_Missense_Mutation_p.P516L NM_014572 NP_055387 Q9NRM7 LATS2_HUMAN LATS, large tumor suppressor, homolog 2 516 PPxY motif. cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1) 10 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) CGGGTAGGGCGGAGGCGGGCA 0.711 4 7 --- --- --- --- PASS LATS2 26524 broad.mit.edu 37 13 21563271 21563271 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:21563271G>A uc009zzs.2 - 4 1013 c.648C>T c.(646-648)TTC>TTT p.F216F LATS2_uc001unr.3_Silent_p.F216F NM_014572 NP_055387 Q9NRM7 LATS2_HUMAN LATS, large tumor suppressor, homolog 2 216 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1) 10 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) CGACTCCGGGGAAAAGGTAGT 0.711 3 9 --- --- --- --- PASS SAP18 10284 broad.mit.edu 37 13 21715094 21715094 + Silent SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:21715094C>A uc001uns.2 + 2 238 c.199C>A c.(199-201)CGG>AGG p.R67R NM_005870 NP_005861 O00422 SAP18_HUMAN Sin3A-associated protein, 18kDa 48 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|plasma membrane protein binding|transcription corepressor activity 0 all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147) all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941) CGAGTTCTCCCGGGGAAATGT 0.587 4 55 --- --- --- --- PASS MRP63 78988 broad.mit.edu 37 13 21751173 21751173 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:21751173G>A uc001unw.2 + 2 608 c.118G>A c.(118-120)GAG>AAG p.E40K SKA3_uc001unt.2_5'Flank|SKA3_uc001unv.2_5'Flank|SKA3_uc001unu.2_5'Flank NM_024026 NP_076931 Q9BQC6 RT63_HUMAN mitochondrial ribosomal protein 63 40 0 all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147) all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932) CCGCCGCCTGGAGATCGAGGC 0.697 9 30 --- --- --- --- PASS SACS 26278 broad.mit.edu 37 13 23928927 23928927 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:23928927C>T uc001uon.2 - 8 2413 c.1824G>A c.(1822-1824)GTG>GTA p.V608V SACS_uc001uoo.2_Silent_p.V461V|SACS_uc001uop.1_Silent_p.V395V|SACS_uc001uoq.1_Silent_p.V461V NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 608 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CAGCAGCATCCACATTCCCTG 0.532 10 32 --- --- --- --- PASS ATP12A 479 broad.mit.edu 37 13 25284959 25284959 + Nonsense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:25284959C>A uc001upp.2 + 21 3114 c.2927C>A c.(2926-2928)TCA>TAA p.S976* ATP12A_uc010aaa.2_Nonsense_Mutation_p.S982* NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 976 Helical; (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GGGATCACCTCACAGATCATC 0.488 21 28 --- --- --- --- PASS PABPC3 5042 broad.mit.edu 37 13 25670880 25670880 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:25670880G>A uc001upy.2 + 1 605 c.544G>A c.(544-546)GAA>AAA p.E182K NM_030979 NP_112241 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 182 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding ovary(3)|skin(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) ACGAGAAGCTGAACTTGGAGC 0.413 16 33 --- --- --- --- PASS PABPC3 5042 broad.mit.edu 37 13 25671266 25671266 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:25671266C>T uc001upy.2 + 1 991 c.930C>T c.(928-930)CTC>CTT p.L310L NM_030979 NP_112241 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 310 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding ovary(3)|skin(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) ATGAACGTCTCCGGAAAGCGT 0.418 63 130 --- --- --- --- PASS PABPC3 5042 broad.mit.edu 37 13 25671267 25671267 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:25671267C>T uc001upy.2 + 1 992 c.931C>T c.(931-933)CGG>TGG p.R311W NM_030979 NP_112241 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 311 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding ovary(3)|skin(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TGAACGTCTCCGGAAAGCGTT 0.418 65 129 --- --- --- --- PASS GPR12 2835 broad.mit.edu 37 13 27333080 27333080 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:27333080G>A uc010aal.2 - 2 1107 c.885C>T c.(883-885)ATC>ATT p.I295I GPR12_uc010tdl.1_Silent_p.I136I NM_005288 NP_005279 P47775 GPR12_HUMAN G protein-coupled receptor 12 295 Helical; Name=7; (Potential). integral to plasma membrane 0 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) CAGGGTTGATGATGGAATTGT 0.532 11 39 --- --- --- --- PASS FLT3 2322 broad.mit.edu 37 13 28588655 28588655 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:28588655C>T uc001urw.2 - 23 2875 c.2793G>A c.(2791-2793)AGG>AGA p.R931R FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Silent_p.R890R NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 931 Protein kinase.|Cytoplasmic (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) ATGGCCGTTTCCTTGAGTCAA 0.403 Mis|O AML|ALL 12 46 --- --- --- --- PASS MTUS2 23281 broad.mit.edu 37 13 29599057 29599057 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:29599057C>T uc001usl.3 + 1 310 c.252C>T c.(250-252)TTC>TTT p.F84F NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 74 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 GTACCCATTTCCATAAGGAAT 0.463 11 22 --- --- --- --- PASS MTUS2 23281 broad.mit.edu 37 13 29600876 29600876 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:29600876G>A uc001usl.3 + 1 2129 c.2071G>A c.(2071-2073)GAA>AAA p.E691K NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 681 Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity p.E691K(1) 0 TCTTCCCCACGAAGAGAAGGC 0.582 7 38 --- --- --- --- PASS USPL1 10208 broad.mit.edu 37 13 31233097 31233097 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:31233097C>T uc001utc.2 + 9 3315 c.2883C>T c.(2881-2883)TCC>TCT p.S961S USPL1_uc001utd.2_Silent_p.S632S|USPL1_uc001ute.1_Silent_p.S632S NM_005800 NP_005791 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 961 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) CTGGTGTTTCCCTGTACAGTA 0.408 38 59 --- --- --- --- PASS RXFP2 122042 broad.mit.edu 37 13 32352681 32352681 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:32352681C>T uc001utt.2 + 9 817 c.746C>T c.(745-747)CCC>CTC p.P249L RXFP2_uc010aba.2_Missense_Mutation_p.P232L NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 249 Extracellular (Potential).|LRR 5. integral to membrane|plasma membrane 0 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) GAAGCTCTTCCCAAGCAGATG 0.323 31 95 --- --- --- --- PASS FRY 10129 broad.mit.edu 37 13 32818196 32818196 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:32818196C>T uc001utx.2 + 47 7201 c.6705C>T c.(6703-6705)CTC>CTT p.L2235L FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 2235 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) AGAAGGGCCTCCCTAGTGTGC 0.527 11 25 --- --- --- --- PASS FRY 10129 broad.mit.edu 37 13 32818197 32818197 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:32818197C>T uc001utx.2 + 47 7202 c.6706C>T c.(6706-6708)CCT>TCT p.P2236S FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 2236 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GAAGGGCCTCCCTAGTGTGCA 0.527 11 26 --- --- --- --- PASS FRY 10129 broad.mit.edu 37 13 32841364 32841364 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:32841364C>T uc001utx.2 + 55 8500 c.8004C>T c.(8002-8004)ATC>ATT p.I2668I FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Silent_p.I223I|FRY_uc001utz.2_Silent_p.I193I|FRY_uc010tdx.1_Silent_p.I38I NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 2668 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TCTCAGCCATCCTTGCCGCCT 0.557 23 52 --- --- --- --- PASS BRCA2 675 broad.mit.edu 37 13 32915094 32915094 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:32915094C>T uc001uub.1 + 11 6829 c.6602C>T c.(6601-6603)TCT>TTT p.S2201F NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2201 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GAAACTTTTTCTGATGTTCCT 0.328 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 12 19 --- --- --- --- PASS NBEA 26960 broad.mit.edu 37 13 36158054 36158054 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:36158054C>T uc001uvb.2 + 46 7261 c.7055C>T c.(7054-7056)CCC>CTC p.P2352L NBEA_uc010abi.2_Missense_Mutation_p.P1008L|NBEA_uc010tee.1_Missense_Mutation_p.P145L|NBEA_uc010tef.1_Missense_Mutation_p.P145L|NBEA_uc010teg.1_Missense_Mutation_p.P145L NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2352 BEACH. cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GCTTTGAACCCCAAGAGAGCT 0.323 23 29 --- --- --- --- PASS NBEA 26960 broad.mit.edu 37 13 36158055 36158055 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:36158055C>T uc001uvb.2 + 46 7262 c.7056C>T c.(7054-7056)CCC>CCT p.P2352P NBEA_uc010abi.2_Silent_p.P1008P|NBEA_uc010tee.1_Silent_p.P145P|NBEA_uc010tef.1_Silent_p.P145P|NBEA_uc010teg.1_Silent_p.P145P NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2352 BEACH. cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CTTTGAACCCCAAGAGAGCTG 0.323 23 30 --- --- --- --- PASS DCLK1 9201 broad.mit.edu 37 13 36699922 36699922 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:36699922G>A uc001uvf.2 - 2 586 c.353C>T c.(352-354)TCC>TTC p.S118F NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 118 Doublecortin 1. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) GTCCAGGCTGGAAATCTTCTT 0.532 12 35 --- --- --- --- PASS CSNK1A1L 122011 broad.mit.edu 37 13 37679192 37679192 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:37679192G>A uc001uwm.1 - 1 610 c.202C>T c.(202-204)CAA>TAA p.Q68* NM_145203 NP_660204 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 68 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1) 1 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) ACCCCACCTTGAAGAATCGTG 0.527 29 54 --- --- --- --- PASS TRPC4 7223 broad.mit.edu 37 13 38211570 38211570 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:38211570G>A uc001uws.2 - 11 2639 c.2404C>T c.(2404-2406)CTG>TTG p.L802L TRPC4_uc010abv.2_Silent_p.L382L|TRPC4_uc001uwt.2_Intron|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Silent_p.L629L|TRPC4_uc010abx.2_Silent_p.L807L|TRPC4_uc010aby.2_Intron NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 802 Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GGATGAATCAGGGTGGTTAAA 0.453 14 23 --- --- --- --- PASS KCTD4 386618 broad.mit.edu 37 13 45768509 45768509 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:45768509C>T uc001uzx.3 - 2 598 c.194G>A c.(193-195)GGA>GAA p.G65E GTF2F2_uc001uzv.2_Intron|GTF2F2_uc001uzw.2_Intron NM_198404 NP_940686 Q8WVF5 KCTD4_HUMAN potassium channel tetramerisation domain 65 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity 0 Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207) GAGGATTTTTCCATTTACTAT 0.413 12 89 --- --- --- --- PASS SPERT 220082 broad.mit.edu 37 13 46287426 46287426 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:46287426C>T uc001van.1 + 3 346 c.266C>T c.(265-267)TCC>TTC p.S89F SPERT_uc001vao.2_Missense_Mutation_p.S53F NM_152719 NP_689932 Q8NA61 SPERT_HUMAN spermatid associated 89 cytoplasmic membrane-bounded vesicle central_nervous_system(1)|pancreas(1) 2 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) AGCCAGCACTCCTATCCACTG 0.682 10 13 --- --- --- --- PASS SPERT 220082 broad.mit.edu 37 13 46288346 46288346 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:46288346G>A uc001van.1 + 3 1266 c.1186G>A c.(1186-1188)GAG>AAG p.E396K SPERT_uc001vao.2_Missense_Mutation_p.E360K NM_152719 NP_689932 Q8NA61 SPERT_HUMAN spermatid associated 396 Potential. cytoplasmic membrane-bounded vesicle central_nervous_system(1)|pancreas(1) 2 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) CTTCCAGGAGGAGAACAAGGC 0.617 4 14 --- --- --- --- PASS ZC3H13 23091 broad.mit.edu 37 13 46543999 46543999 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:46543999G>A uc010tfw.1 - 13 2686 c.2680C>T c.(2680-2682)CGT>TGT p.R894C ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.R894C|ZC3H13_uc001vat.1_Missense_Mutation_p.R894C NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 894 nucleic acid binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TCTGGTTTACGATCCTCCTCT 0.453 55 118 --- --- --- --- PASS CPB2 1361 broad.mit.edu 37 13 46638865 46638865 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:46638865C>T uc001vaw.2 - 8 781 c.714G>A c.(712-714)TGG>TGA p.W238* uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Nonsense_Mutation_p.W201* NM_001872 NP_001863 Q96IY4 CBPB2_HUMAN plasma carboxypeptidase B2 isoform a 238 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) GGTTCTTTCTCCACATTCGAT 0.423 17 29 --- --- --- --- PASS CPB2 1361 broad.mit.edu 37 13 46638866 46638866 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:46638866C>T uc001vaw.2 - 8 780 c.713G>A c.(712-714)TGG>TAG p.W238* uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Nonsense_Mutation_p.W201* NM_001872 NP_001863 Q96IY4 CBPB2_HUMAN plasma carboxypeptidase B2 isoform a 238 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) GTTCTTTCTCCACATTCGATT 0.423 17 29 --- --- --- --- PASS LCP1 3936 broad.mit.edu 37 13 46708349 46708349 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:46708349G>A uc001vaz.3 - 14 1665 c.1539C>T c.(1537-1539)GGC>GGT p.G513G LCP1_uc010ack.2_Silent_p.G82G|LCP1_uc001vay.3_Silent_p.G110G|LCP1_uc001vba.3_Silent_p.G513G NM_002298 NP_002289 P13796 PLSL_HUMAN L-plastin 513 Actin-binding 2. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding lung(4)|ovary(3) 7 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) TGACCTTCTGGCCACCACCAA 0.343 T BCL6 NHL 11 35 --- --- --- --- PASS CYSLTR2 57105 broad.mit.edu 37 13 49281181 49281181 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:49281181C>T uc010acx.1 + 6 911 c.228C>T c.(226-228)TTC>TTT p.F76F CYSLTR2_uc010acy.1_Silent_p.F76F|CYSLTR2_uc010acz.1_Silent_p.F76F|CYSLTR2_uc010ada.1_Silent_p.F76F|CYSLTR2_uc010adb.1_Silent_p.F76F|CYSLTR2_uc010adc.1_Silent_p.F76F|CYSLTR2_uc010add.1_Silent_p.F76F|CYSLTR2_uc010acw.1_Silent_p.F76F|CYSLTR2_uc001vck.2_Silent_p.F76F NM_020377 NP_065110 Q9NS75 CLTR2_HUMAN cysteinyl leukotriene receptor 2 76 Helical; Name=2; (Potential). immune response integral to membrane|plasma membrane lung(2) 2 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) TGAACGTTTTCATGCTAAATC 0.413 7 26 --- --- --- --- PASS CDADC1 81602 broad.mit.edu 37 13 49842022 49842022 + Missense_Mutation SNP T G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:49842022T>G uc001vcu.2 + 5 903 c.827T>G c.(826-828)ATG>AGG p.M276R CDADC1_uc001vcs.1_RNA|CDADC1_uc001vct.1_Missense_Mutation_p.M158R|CDADC1_uc010tgk.1_Missense_Mutation_p.M78R|CDADC1_uc001vcv.2_RNA NM_030911 NP_112173 Q9BWV3 CDAC1_HUMAN cytidine and dCMP deaminase domain containing 1 276 hydrolase activity|zinc ion binding upper_aerodigestive_tract(1) 1 Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216) AGGCAAAACATGAAAGACCTT 0.363 10 28 --- --- --- --- PASS INTS6 26512 broad.mit.edu 37 13 51952577 51952577 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:51952577G>A uc001vfk.2 - 12 2014 c.1400C>T c.(1399-1401)TCT>TTT p.S467F INTS6_uc001vfi.2_Missense_Mutation_p.S151F|INTS6_uc001vfj.2_Missense_Mutation_p.S454F|INTS6_uc001vfl.2_Missense_Mutation_p.S289F NM_012141 NP_036273 Q9UL03 INT6_HUMAN integrator complex subunit 6 isoform a 467 snRNA processing actin cytoskeleton|integrator complex protein binding|transmembrane receptor activity ovary(1)|lung(1) 2 Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;7.7e-08) GACTCGATCAGATTCTATTTT 0.308 11 21 --- --- --- --- PASS WDFY2 115825 broad.mit.edu 37 13 52325496 52325496 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:52325496C>T uc001vfp.2 + 8 1116 c.776C>T c.(775-777)TCC>TTC p.S259F WDFY2_uc010ads.1_Missense_Mutation_p.S259F|WDFY2_uc010adt.1_RNA NM_052950 NP_443182 Q96P53 WDFY2_HUMAN WD repeat and FYVE domain containing 2 259 WD 6. metal ion binding 0 Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191) GBM - Glioblastoma multiforme(99;9e-08) CAATTGATCTCCTGTGGCGGT 0.562 8 34 --- --- --- --- PASS CCDC70 83446 broad.mit.edu 37 13 52440034 52440034 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:52440034G>A uc001vfu.3 + 2 816 c.520G>A c.(520-522)GAG>AAG p.E174K uc010tgr.1_RNA NM_031290 NP_112580 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 precursor 174 extracellular region|plasma membrane 0 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) CCTTGAGGGGGAGAAAGCCCT 0.557 35 69 --- --- --- --- PASS ATP7B 540 broad.mit.edu 37 13 52548333 52548333 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:52548333G>T uc001vfw.2 - 2 1180 c.1023C>A c.(1021-1023)TCC>TCA p.S341S ATP7B_uc010adv.2_Silent_p.S341S|ATP7B_uc001vfx.2_Silent_p.S341S|ATP7B_uc001vfy.2_Intron|ATP7B_uc010tgt.1_Silent_p.S341S|ATP7B_uc010tgu.1_Silent_p.S341S|ATP7B_uc010tgv.1_Silent_p.S341S|ATP7B_uc010tgw.1_Silent_p.S309S NM_000053 NP_000044 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 341 Poly-Ser.|Cytoplasmic (Potential). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) AATGAGAACTGGAAGACCTGT 0.557 Wilson_disease 27 56 --- --- --- --- PASS ATP7B 540 broad.mit.edu 37 13 52548915 52548915 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:52548915G>A uc001vfw.2 - 2 598 c.441C>T c.(439-441)CTC>CTT p.L147L ATP7B_uc010adv.2_Silent_p.L147L|ATP7B_uc001vfx.2_Silent_p.L147L|ATP7B_uc001vfy.2_Silent_p.L147L|ATP7B_uc010tgt.1_Silent_p.L147L|ATP7B_uc010tgu.1_Silent_p.L147L|ATP7B_uc010tgv.1_Silent_p.L147L|ATP7B_uc010tgw.1_Silent_p.L115L NM_000053 NP_000044 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 147 HMA 2.|Cytoplasmic (Potential). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CCTCCACCCGGAGCTTGACCA 0.577 Wilson_disease 17 12 --- --- --- --- PASS UTP14C 9724 broad.mit.edu 37 13 52604646 52604646 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:52604646C>T uc001vgb.2 + 2 2241 c.1706C>T c.(1705-1707)TCC>TTC p.S569F UTP14C_uc001vgc.2_RNA NM_021645 NP_067677 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 569 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome ovary(3)|large_intestine(1)|breast(1) 5 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) CAGTCTCCTTCCGTGAGGTCT 0.483 29 83 --- --- --- --- PASS THSD1 55901 broad.mit.edu 37 13 52952155 52952155 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:52952155G>A uc001vgo.2 - 5 2495 c.1950C>T c.(1948-1950)TTC>TTT p.F650F THSD1_uc001vgp.2_Silent_p.F597F|THSD1_uc010tgz.1_Silent_p.F271F|THSD1_uc010aea.2_Silent_p.F111F NM_018676 NP_061146 Q9NS62 THSD1_HUMAN thrombospondin type I domain-containing 1 650 Cytoplasmic (Potential). extracellular region|integral to membrane|intracellular membrane-bounded organelle ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) CTGTCCTCCTGAAATGGGCGT 0.632 4 13 --- --- --- --- PASS THSD1 55901 broad.mit.edu 37 13 52971669 52971669 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:52971669A>G uc001vgo.2 - 3 1264 c.719T>C c.(718-720)TTT>TCT p.F240S THSD1_uc001vgp.2_Missense_Mutation_p.F240S|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron NM_018676 NP_061146 Q9NS62 THSD1_HUMAN thrombospondin type I domain-containing 1 240 Extracellular (Potential). extracellular region|integral to membrane|intracellular membrane-bounded organelle ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) TTTGTATCCAAATTTCTGGGC 0.562 6 13 --- --- --- --- PASS LECT1 11061 broad.mit.edu 37 13 53282789 53282789 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:53282789G>A uc001vhf.2 - 6 782 c.671C>T c.(670-672)ACC>ATC p.T224I LECT1_uc001vhg.2_Missense_Mutation_p.T224I|LECT1_uc001vhh.2_Missense_Mutation_p.T213I NM_007015 NP_008946 O75829 LECT1_HUMAN leukocyte cell derived chemotaxin 1 isoform 1 224 cartilage development|proteoglycan metabolic process endomembrane system|extracellular region|integral to membrane ovary(2) 2 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.38e-08) TCTTTTTGTGGTAGTTGGAAC 0.393 28 41 --- --- --- --- PASS TDRD3 81550 broad.mit.edu 37 13 61041372 61041372 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:61041372C>T uc001via.2 + 5 863 c.75C>T c.(73-75)AGC>AGT p.S25S TDRD3_uc010aef.2_5'UTR|TDRD3_uc001vhz.3_Silent_p.S25S|TDRD3_uc010aeg.2_Silent_p.S118S|TDRD3_uc001vib.3_Silent_p.S25S NM_030794 NP_110421 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 isoform 2 25 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity upper_aerodigestive_tract(1)|skin(1) 2 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) TTTGCTTTAGCCTGAACACAC 0.269 25 46 --- --- --- --- PASS TDRD3 81550 broad.mit.edu 37 13 61041373 61041373 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:61041373C>T uc001via.2 + 5 864 c.76C>T c.(76-78)CTG>TTG p.L26L TDRD3_uc010aef.2_5'UTR|TDRD3_uc001vhz.3_Silent_p.L26L|TDRD3_uc010aeg.2_Silent_p.L119L|TDRD3_uc001vib.3_Silent_p.L26L NM_030794 NP_110421 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 isoform 2 26 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity upper_aerodigestive_tract(1)|skin(1) 2 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) TTGCTTTAGCCTGAACACACC 0.274 25 46 --- --- --- --- PASS PCDH9 5101 broad.mit.edu 37 13 67801516 67801516 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:67801516C>T uc001vik.2 - 2 1749 c.1057G>A c.(1057-1059)GAT>AAT p.D353N PCDH9_uc001vil.2_Missense_Mutation_p.D353N|PCDH9_uc010thl.1_Missense_Mutation_p.D353N|PCDH9_uc001vin.3_Missense_Mutation_p.D353N NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 353 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GGAGGGTTATCATTTACATCG 0.448 24 56 --- --- --- --- PASS PCDH9 5101 broad.mit.edu 37 13 67802142 67802142 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:67802142G>A uc001vik.2 - 2 1123 c.431C>T c.(430-432)TCT>TTT p.S144F PCDH9_uc001vil.2_Missense_Mutation_p.S144F|PCDH9_uc010thl.1_Missense_Mutation_p.S144F|PCDH9_uc001vin.3_Missense_Mutation_p.S144F NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 144 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GATGACAGGAGATGGAAACAT 0.408 24 56 --- --- --- --- PASS DACH1 1602 broad.mit.edu 37 13 72053449 72053449 + Splice_Site SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:72053449C>T uc010thn.1 - 9 2146 c.1723_splice c.e9-1 p.G575_splice DACH1_uc010tho.1_Splice_Site_p.G427_splice|DACH1_uc010thp.1_Splice_Site_p.G373_splice NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) TCAACAGCCCCTGTACAAAGA 0.358 8 54 --- --- --- --- PASS PIBF1 10464 broad.mit.edu 37 13 73357624 73357624 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:73357624C>T uc001vjc.2 + 2 322 c.17C>T c.(16-18)TCA>TTA p.S6L PIBF1_uc001vja.1_Missense_Mutation_p.S6L|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Missense_Mutation_p.S6L|PIBF1_uc010aep.2_Intron|DIS3_uc001viy.3_5'Flank|DIS3_uc001vix.3_5'Flank|DIS3_uc001viz.2_5'Flank NM_006346 NP_006337 Q8WXW3 PIBF1_HUMAN progesterone-induced blocking factor 1 6 centrosome ovary(1)|breast(1) 2 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) CGAAAAATTTCAAAGGAGTCA 0.279 21 38 --- --- --- --- PASS PIBF1 10464 broad.mit.edu 37 13 73428285 73428285 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:73428285C>T uc001vjc.2 + 10 1619 c.1314C>T c.(1312-1314)CTC>CTT p.L438L PIBF1_uc001vja.1_Silent_p.L438L|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Silent_p.L438L|PIBF1_uc010aep.2_Intron NM_006346 NP_006337 Q8WXW3 PIBF1_HUMAN progesterone-induced blocking factor 1 438 centrosome ovary(1)|breast(1) 2 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) ACGATCAGCTCTTAGACAGGT 0.328 8 42 --- --- --- --- PASS TBC1D4 9882 broad.mit.edu 37 13 75876395 75876395 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:75876395C>T uc001vjl.1 - 16 3242 c.2895G>A c.(2893-2895)GCG>GCA p.A965A TBC1D4_uc010tht.1_Silent_p.A175A|TBC1D4_uc010thu.1_Silent_p.A122A|TBC1D4_uc010aer.2_Silent_p.A957A|TBC1D4_uc010aes.2_Silent_p.A902A NM_014832 NP_055647 O60343 TBCD4_HUMAN TBC1 domain family, member 4 965 Rab-GAP TBC. cytoplasm Rab GTPase activator activity ovary(4)|central_nervous_system(1)|skin(1) 6 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) CCACGAGAATCGCATGCTGCT 0.388 11 30 --- --- --- --- PASS TBC1D4 9882 broad.mit.edu 37 13 75886895 75886895 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:75886895G>A uc001vjl.1 - 13 2709 c.2362C>T c.(2362-2364)CCC>TCC p.P788S TBC1D4_uc010tht.1_5'UTR|TBC1D4_uc010thu.1_5'UTR|TBC1D4_uc010aer.2_Missense_Mutation_p.P780S|TBC1D4_uc010aes.2_Missense_Mutation_p.P725S NM_014832 NP_055647 O60343 TBCD4_HUMAN TBC1 domain family, member 4 788 cytoplasm Rab GTPase activator activity ovary(4)|central_nervous_system(1)|skin(1) 6 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) ATTGCTGAGGGAGATTTGTTC 0.498 15 26 --- --- --- --- PASS SLITRK5 26050 broad.mit.edu 37 13 88328487 88328487 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:88328487G>A uc001vln.2 + 2 1063 c.844G>A c.(844-846)GAA>AAA p.E282K SLITRK5_uc010tic.1_Missense_Mutation_p.E41K NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 282 LRRCT 1.|Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) ATCCAAGCAGGAACTTTGCCC 0.542 19 39 --- --- --- --- PASS SLITRK5 26050 broad.mit.edu 37 13 88328520 88328520 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:88328520G>A uc001vln.2 + 2 1096 c.877G>A c.(877-879)GAG>AAG p.E293K SLITRK5_uc010tic.1_Missense_Mutation_p.E52K NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 293 Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) TTCTGACTACGAGATGAGGCC 0.537 23 36 --- --- --- --- PASS GPC5 2262 broad.mit.edu 37 13 92345891 92345891 + Missense_Mutation SNP C T T rs141328977 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:92345891C>T uc010tif.1 + 3 1142 c.776C>T c.(775-777)CCG>CTG p.P259L NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 259 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) CAATACTGCCCGCACTGCCAA 0.552 20 25 --- --- --- --- PASS DCT 1638 broad.mit.edu 37 13 95121299 95121299 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:95121299C>T uc001vlv.3 - 2 723 c.296G>A c.(295-297)GGA>GAA p.G99E DCT_uc010afh.2_Missense_Mutation_p.G99E NM_001922 NP_001913 P40126 TYRP2_HUMAN dopachrome tautomerase isoform 1 99 Lumenal, melanosome (Potential). epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) GGCAAAGTTTCCTAGTTCACA 0.438 31 63 --- --- --- --- PASS CLDN10 9071 broad.mit.edu 37 13 96230168 96230168 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:96230168G>A uc001vmh.2 + 5 648 c.587G>A c.(586-588)GGG>GAG p.G196E CLDN10_uc001vmg.2_Missense_Mutation_p.G194E|CLDN10_uc010tii.1_Missense_Mutation_p.G175E|DZIP1_uc010afn.2_Intron NM_006984 NP_008915 P78369 CLD10_HUMAN claudin 10 isoform b 196 Cytoplasmic (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity ovary(1) 1 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.18) ACATACAACGGGGCCACATCT 0.378 14 20 --- --- --- --- PASS UGGT2 55757 broad.mit.edu 37 13 96555192 96555192 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:96555192C>A uc001vmt.2 - 21 2588 c.2418G>T c.(2416-2418)TTG>TTT p.L806F NM_020121 NP_064506 Q9NYU1 UGGG2_HUMAN UDP-glucose ceramide glucosyltransferase-like 2 806 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 GAAAGCTTCTCAAAAACATGT 0.338 20 33 --- --- --- --- PASS FARP1 10160 broad.mit.edu 37 13 99037085 99037085 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:99037085C>T uc001vnj.2 + 7 934 c.598C>T c.(598-600)CAC>TAC p.H200Y FARP1_uc001vnh.2_Missense_Mutation_p.H200Y NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF, and pleckstrin domain protein 1 200 FERM. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(2) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CGTGGAATTTCACCATAACCA 0.463 15 36 --- --- --- --- PASS MIR623 693208 broad.mit.edu 37 13 100008450 100008450 + RNA SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:100008450C>A hsa-mir-623|MI0003637 + c.66C>A UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron|UBAC2_uc001voh.2_Intron 0 TGGAGCTTCCCGATGTACTCT 0.522 6 197 --- --- --- --- PASS CLYBL 171425 broad.mit.edu 37 13 100515265 100515265 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:100515265C>T uc001vok.2 + 4 473 c.459C>T c.(457-459)TTC>TTT p.F153F CLYBL_uc010tix.1_Silent_p.F153F|CLYBL_uc010tiy.1_Intron NM_206808 NP_996531 Q8N0X4 CLYBL_HUMAN citrate lyase beta like precursor 153 cellular aromatic compound metabolic process citrate lyase complex|mitochondrion citrate (pro-3S)-lyase activity|metal ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) AATTTTCATTCCACTTAAAAG 0.353 6 30 --- --- --- --- PASS FAM155A 728215 broad.mit.edu 37 13 107823060 107823060 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:107823060G>A uc001vql.2 - 3 1678 c.1162C>T c.(1162-1164)CCA>TCA p.P388S NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 388 integral to membrane binding skin(1) 1 CCTTTGGATGGGTTATTTGAT 0.458 3 18 --- --- --- --- PASS LIG4 3981 broad.mit.edu 37 13 108862306 108862306 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:108862306G>A uc001vqn.2 - 2 1584 c.1311C>T c.(1309-1311)ATC>ATT p.I437I LIG4_uc001vqo.2_Silent_p.I437I|LIG4_uc010agg.1_Silent_p.I370I|LIG4_uc010agf.2_Silent_p.I437I|LIG4_uc001vqp.2_Silent_p.I437I NM_002312 NP_002303 P49917 DNLI4_HUMAN DNA ligase IV 437 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding 0 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) CTGGCTTGTAGATGGATAGAG 0.343 NHEJ 34 108 --- --- --- --- PASS MYO16 23026 broad.mit.edu 37 13 109672195 109672195 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:109672195G>A uc001vqt.1 + 23 2792 c.2666G>A c.(2665-2667)GGG>GAG p.G889E MYO16_uc010agk.1_Missense_Mutation_p.G911E|MYO16_uc001vqu.1_Missense_Mutation_p.G689E|MYO16_uc010tjh.1_Missense_Mutation_p.G401E NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 889 Myosin head-like 2. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) ATGAAGGATGGGAATGGGAAT 0.443 23 34 --- --- --- --- PASS COL4A1 1282 broad.mit.edu 37 13 110826824 110826824 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:110826824C>T uc001vqw.3 - 39 3497 c.3375G>A c.(3373-3375)TTG>TTA p.L1125L COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 1125 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GGATGCCATCCAATCCTGGGA 0.517 9 13 --- --- --- --- PASS TUBGCP3 10426 broad.mit.edu 37 13 113212713 113212713 + Silent SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:113212713A>G uc001vse.1 - 5 532 c.345T>C c.(343-345)GCT>GCC p.A115A TUBGCP3_uc010tjq.1_Intron|TUBGCP3_uc001vsf.2_Silent_p.A115A|TUBGCP3_uc001vsg.1_Silent_p.A115A NM_006322 NP_006313 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 115 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1) 1 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) CAAATAACGTAGCATAGCTAG 0.453 5 20 --- --- --- --- PASS ATP11A 23250 broad.mit.edu 37 13 113514664 113514664 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:113514664C>T uc001vsi.3 + 24 2879 c.2791C>T c.(2791-2793)CTG>TTG p.L931L ATP11A_uc001vsj.3_Silent_p.L931L|ATP11A_uc001vsm.1_Silent_p.L807L|ATP11A_uc010ago.2_Intron NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 931 Helical; (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) CCCCATCCTCCTGTACAGCCT 0.537 8 39 --- --- --- --- PASS F10 2159 broad.mit.edu 37 13 113777207 113777207 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:113777207C>T uc001vsx.2 + 1 95 c.38C>T c.(37-39)TCC>TTC p.S13F F10_uc010agq.1_RNA|F10_uc001vsy.2_Missense_Mutation_p.S13F|F10_uc001vsz.2_Missense_Mutation_p.S13F NM_000504 NP_000495 P00742 FA10_HUMAN coagulation factor X preproprotein 13 blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity pancreas(1) 1 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCAGTGCCTCCCTGGCTGGC 0.662 6 15 --- --- --- --- PASS PCID2 55795 broad.mit.edu 37 13 113832535 113832535 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:113832535G>A uc010tju.1 - 14 1258 c.1177C>T c.(1177-1179)CCT>TCT p.P393S PCID2_uc001vtb.2_Missense_Mutation_p.P226S|PCID2_uc010tjv.1_Missense_Mutation_p.P393S|PCID2_uc010tjw.1_Missense_Mutation_p.P393S|PCID2_uc001vte.2_Missense_Mutation_p.P286S|PCID2_uc001vtd.2_Missense_Mutation_p.P286S|PCID2_uc001vtf.2_Missense_Mutation_p.P286S NM_001127203 NP_001120675 Q5JVF3 PCID2_HUMAN PCI domain containing 2 393 negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development protein binding 0 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.216)|all_epithelial(44;0.234) all cancers(43;0.104) GACAGGGGAGGAAATGGGTTC 0.542 10 46 --- --- --- --- PASS DCUN1D2 55208 broad.mit.edu 37 13 114138238 114138238 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:114138238T>C uc001vtr.1 - 2 176 c.137A>G c.(136-138)CAA>CGA p.Q46R DCUN1D2_uc001vts.1_RNA|DCUN1D2_uc010agw.1_Intron NM_001014283 NP_001014305 Q6PH85 DCNL2_HUMAN DCN1, defective in cullin neddylation 1, domain 46 0 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234) GTCTGGGTTTTGGAAGAAGCT 0.557 33 79 --- --- --- --- PASS RASA3 22821 broad.mit.edu 37 13 114817534 114817534 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr13:114817534G>A uc001vui.2 - 3 401 c.270C>T c.(268-270)TCC>TCT p.S90S RASA3_uc010tkk.1_Silent_p.S58S|RASA3_uc001vuj.2_5'UTR|RASA3_uc010tkl.1_RNA NM_007368 NP_031394 Q14644 RASA3_HUMAN RAS p21 protein activator 3 90 C2 1. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity lung(3)|skin(1) 4 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) TACCTATGATGGAATCCCTCC 0.473 7 28 --- --- --- --- PASS OR4Q3 441669 broad.mit.edu 37 14 20216115 20216115 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:20216115A>T uc010tkt.1 + 1 529 c.529A>T c.(529-531)AAC>TAC p.N177Y NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 177 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGAACTGGACAACTTCTACTG 0.507 8 56 --- --- --- --- PASS OR4K5 79317 broad.mit.edu 37 14 20389490 20389490 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:20389490C>T uc010tkw.1 + 1 725 c.725C>T c.(724-726)TCC>TTC p.S242F NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ACGCTGGCTTCCCATATTGCA 0.403 23 139 --- --- --- --- PASS OR4K14 122740 broad.mit.edu 37 14 20483071 20483071 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:20483071G>A uc010tky.1 - 1 282 c.282C>T c.(280-282)TCC>TCT p.S94S NM_001004712 NP_001004712 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, 94 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) ATCCTCCAAAGGAGATGAGTT 0.483 34 34 --- --- --- --- PASS OR4N5 390437 broad.mit.edu 37 14 20612188 20612188 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:20612188C>T uc010tla.1 + 1 294 c.294C>T c.(292-294)ATC>ATT p.I98I NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, 98 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) GAAGCTGCATCACTCAGCTCT 0.493 12 93 --- --- --- --- PASS TEP1 7011 broad.mit.edu 37 14 20864797 20864797 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:20864797G>A uc001vxe.2 - 10 1682 c.1642C>T c.(1642-1644)CAG>TAG p.Q548* TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Nonsense_Mutation_p.Q440* NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 548 TROVE. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TGGAGTCTCTGGAGAATGAGC 0.572 4 27 --- --- --- --- PASS OSGEP 55644 broad.mit.edu 37 14 20916906 20916906 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:20916906G>A uc001vxf.2 - 6 978 c.622C>T c.(622-624)CTG>TTG p.L208L NM_017807 NP_060277 Q9NPF4 OSGEP_HUMAN O-sialoglycoprotein endopeptidase 208 proteolysis|tRNA processing metal ion binding|metalloendopeptidase activity|protein binding 0 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196) ATGAAAGACAGGATCCCTGAG 0.438 7 33 --- --- --- --- PASS OR6S1 341799 broad.mit.edu 37 14 21109437 21109437 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:21109437C>T uc001vxv.1 - 1 414 c.414G>A c.(412-414)ATG>ATA p.M138I NM_001001968 NP_001001968 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, 138 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) CAGCCCCACTCATGAGCAAGG 0.587 15 16 --- --- --- --- PASS RNASE13 440163 broad.mit.edu 37 14 21502423 21502423 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:21502423G>A uc001vzj.2 - 2 163 c.25C>T c.(25-27)CTT>TTT p.L9F NDRG2_uc010tll.1_Intron NM_001012264 NP_001012264 Q5GAN3 RNS13_HUMAN ribonuclease, RNase A family, 13 precursor 9 extracellular region nucleic acid binding|pancreatic ribonuclease activity upper_aerodigestive_tract(1) 1 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.019) TGGAGGAAAAGGAGCCGGGTC 0.552 14 24 --- --- --- --- PASS OR5AU1 390445 broad.mit.edu 37 14 21623338 21623338 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:21623338G>A uc010tlp.1 - 1 847 c.847C>T c.(847-849)CAG>TAG p.Q283* NM_001004731 NP_001004731 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, 283 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) AACCTGCCCTGGGCCGAGCTC 0.493 14 10 --- --- --- --- PASS SUPT16H 11198 broad.mit.edu 37 14 21831642 21831642 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:21831642G>A uc001wao.2 - 11 1593 c.1254C>T c.(1252-1254)CTC>CTT p.L418L NM_007192 NP_009123 Q9Y5B9 SP16H_HUMAN chromatin-specific transcription elongation 418 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding 0 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) TCACAGAAGTGAGAACAGTAG 0.353 11 22 --- --- --- --- PASS CHD8 57680 broad.mit.edu 37 14 21881137 21881137 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:21881137G>A uc001was.1 - 10 1418 c.1324C>T c.(1324-1326)CCA>TCA p.P442S CHD8_uc001war.1_Missense_Mutation_p.P338S|CHD8_uc001wav.1_5'Flank NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 721 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) ACGTAGTCTGGATTAAAGGGC 0.368 13 10 --- --- --- --- PASS OXA1L 5018 broad.mit.edu 37 14 23235850 23235850 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:23235850C>T uc001wgn.2 + 1 120 c.120C>T c.(118-120)TTC>TTT p.F40F OXA1L_uc010tnc.1_Silent_p.F40F|OXA1L_uc001wgo.2_RNA|OXA1L_uc010akc.2_Silent_p.F40F|OXA1L_uc001wgp.2_5'Flank|OXA1L_uc001wgq.2_5'Flank NM_005015 NP_005006 Q15070 OXA1L_HUMAN oxidase (cytochrome c) assembly 1-like Error:Variant_position_missing_in_Q15070_after_alignment aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex protein homodimerization activity|ribosome binding central_nervous_system(1) 1 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) AAAAGTGCTTCCTCTCGAGGG 0.547 13 85 --- --- --- --- PASS PSMB5 5693 broad.mit.edu 37 14 23502794 23502794 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:23502794G>A uc001wii.2 - 2 552 c.288C>T c.(286-288)ATC>ATT p.I96I PSMB5_uc001wij.2_Silent_p.I96I|PSMB5_uc010tni.1_5'UTR NM_002797 NP_002788 P28074 PSB5_HUMAN proteasome beta 5 subunit isoform 1 96 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus protein binding|threonine-type endopeptidase activity ovary(1) 1 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0121) Bortezomib(DB00188) GGTATGGGTTGATCTCTATCA 0.542 4 23 --- --- --- --- PASS CMTM5 116173 broad.mit.edu 37 14 23847659 23847659 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:23847659C>T uc010akm.2 + 2 672 c.228C>T c.(226-228)CTC>CTT p.L76L CMTM5_uc001wjs.2_Silent_p.L76L|CMTM5_uc001wjt.2_Silent_p.L76L|CMTM5_uc010akn.2_Intron|CMTM5_uc001wju.2_Intron|CMTM5_uc010ako.2_Intron NM_138460 NP_612469 Q96DZ9 CKLF5_HUMAN chemokine-like factor superfamily 5 isoform a 76 Helical; (Potential).|MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity 0 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382) TCCTCTTCCTCTATGCCACCC 0.577 43 55 --- --- --- --- PASS MYH6 4624 broad.mit.edu 37 14 23863333 23863333 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:23863333C>T uc001wjv.2 - 21 2696 c.2629G>A c.(2629-2631)GAG>AAG p.E877K NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 877 Potential. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) ACCATCTTCTCCTCCAGCTCC 0.602 8 52 --- --- --- --- PASS MYH6 4624 broad.mit.edu 37 14 23869531 23869531 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:23869531C>T uc001wjv.2 - 14 1582 c.1515G>A c.(1513-1515)GAG>GAA p.E505E MYH6_uc010akp.1_Silent_p.E505E NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 505 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) ACTCAATGCCCTCCTTCTTGT 0.542 46 26 --- --- --- --- PASS LRRC16B 90668 broad.mit.edu 37 14 24528918 24528918 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:24528918G>A uc001wlj.2 + 22 2002 c.1845G>A c.(1843-1845)CTG>CTA p.L615L LRRC16B_uc001wlk.2_5'Flank NM_138360 NP_612369 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 615 ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(265;0.019) TGGGCTTCCTGGACATCGCAA 0.592 16 13 --- --- --- --- PASS NYNRIN 57523 broad.mit.edu 37 14 24878047 24878047 + Silent SNP C G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:24878047C>G uc001wpf.3 + 4 1365 c.1047C>G c.(1045-1047)GCC>GCG p.A349A NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 349 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 CCTGGAAGGCCTGGACCCCGG 0.572 4 21 --- --- --- --- PASS NYNRIN 57523 broad.mit.edu 37 14 24884157 24884157 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:24884157C>T uc001wpf.3 + 9 3520 c.3202C>T c.(3202-3204)CCC>TCC p.P1068S NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 1068 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 CCTGGGCATCCCCTGGGATGG 0.627 27 21 --- --- --- --- PASS KHNYN 23351 broad.mit.edu 37 14 24901146 24901146 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:24901146C>T uc001wph.3 + 3 881 c.679C>T c.(679-681)CCC>TCC p.P227S KHNYN_uc010tpc.1_Missense_Mutation_p.P268S|KHNYN_uc010alw.2_Missense_Mutation_p.P227S|CBLN3_uc001wpg.3_5'Flank NM_015299 NP_056114 O15037 KHNYN_HUMAN hypothetical protein LOC23351 227 ovary(2)|liver(1) 3 AGTGAGAGCTCCCCCTAGTGA 0.642 OREG0022627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 40 --- --- --- --- PASS CTSG 1511 broad.mit.edu 37 14 25043013 25043013 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:25043013C>T uc001wpq.2 - 5 635 c.598G>A c.(598-600)GAT>AAT p.D200N NM_001911 NP_001902 P08311 CATG_HUMAN cathepsin G preproprotein 200 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity ovary(2) 2 GBM - Glioblastoma multiforme(265;0.0269) CCTCCGGAATCCCCCTGTAGG 0.622 8 47 --- --- --- --- PASS CTSG 1511 broad.mit.edu 37 14 25043646 25043646 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:25043646C>T uc001wpq.2 - 4 436 c.399G>A c.(397-399)CAG>CAA p.Q133Q NM_001911 NP_001902 P08311 CATG_HUMAN cathepsin G preproprotein 133 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity ovary(2) 2 GBM - Glioblastoma multiforme(265;0.0269) TCAGTCCCTCCTGGGCTCTAG 0.622 7 57 --- --- --- --- PASS GZMB 3002 broad.mit.edu 37 14 25102253 25102253 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:25102253C>T uc001wps.2 - 2 137 c.71G>A c.(70-72)GGA>GAA p.G24E GZMB_uc010ama.2_Missense_Mutation_p.G12E|GZMB_uc010amb.2_RNA NM_004131 NP_004122 P10144 GRAB_HUMAN granzyme B precursor 24 Peptidase S1. activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals cytosol|immunological synapse|nucleus protein binding|serine-type endopeptidase activity 0 GBM - Glioblastoma multiforme(265;0.028) GGCCTCATGTCCCCCGATGAT 0.567 13 64 --- --- --- --- PASS PRKD1 5587 broad.mit.edu 37 14 30103746 30103746 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:30103746G>A uc001wqh.2 - 8 1373 c.1192C>T c.(1192-1194)CCA>TCA p.P398S NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 398 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) CTTGTTGATGGACTTGAGAAG 0.378 48 43 --- --- --- --- PASS PRKD1 5587 broad.mit.edu 37 14 30194832 30194832 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:30194832G>A uc001wqh.2 - 2 494 c.313C>T c.(313-315)CGC>TGC p.R105C NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 105 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) GGGTCATGGCGAAAAAGCAGG 0.413 5 52 --- --- --- --- PASS COCH 1690 broad.mit.edu 37 14 31354713 31354713 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:31354713G>A uc001wqr.2 + 10 927 c.847G>A c.(847-849)GAG>AAG p.E283K COCH_uc001wqp.2_Missense_Mutation_p.E283K|COCH_uc001wqq.3_Missense_Mutation_p.E283K|uc001wqs.2_RNA|COCH_uc001wqt.1_Missense_Mutation_p.E134K NM_004086 NP_004077 O43405 COCH_HUMAN cochlin precursor 283 VWFA 1. sensory perception of sound proteinaceous extracellular matrix pancreas(1)|central_nervous_system(1)|skin(1) 3 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) TGATGACATCGAGGAAGCAGG 0.468 33 36 --- --- --- --- PASS HECTD1 25831 broad.mit.edu 37 14 31604320 31604320 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:31604320G>A uc001wrc.1 - 22 3825 c.3336C>T c.(3334-3336)GGC>GGT p.G1112G HECTD1_uc001wrd.1_Silent_p.G627G NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 1112 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) CTTCTAAGCGGCCATAAGGTA 0.383 30 29 --- --- --- --- PASS BAZ1A 11177 broad.mit.edu 37 14 35228004 35228004 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:35228004C>T uc001wsk.2 - 25 4860 c.4292G>A c.(4291-4293)GGA>GAA p.G1431E BAZ1A_uc001wsl.2_Missense_Mutation_p.G1399E NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 1431 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 7 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) TTCATGAACTCCTCCCTGTCG 0.398 8 50 --- --- --- --- PASS BAZ1A 11177 broad.mit.edu 37 14 35228005 35228005 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:35228005C>T uc001wsk.2 - 25 4859 c.4291G>A c.(4291-4293)GGA>AGA p.G1431R BAZ1A_uc001wsl.2_Missense_Mutation_p.G1399R NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 1431 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 7 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) TCATGAACTCCTCCCTGTCGG 0.398 7 50 --- --- --- --- PASS KIAA0391 9692 broad.mit.edu 37 14 35592857 35592857 + Nonsense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:35592857G>T uc001wsy.1 + 2 766 c.406G>T c.(406-408)GGA>TGA p.G136* KIAA0391_uc010tps.1_Nonsense_Mutation_p.G41*|KIAA0391_uc001wsz.1_Nonsense_Mutation_p.G136*|KIAA0391_uc001wta.2_RNA|KIAA0391_uc001wtb.1_Nonsense_Mutation_p.G136*|KIAA0391_uc001wtc.1_Intron|PPP2R3C_uc001wss.2_5'Flank|PPP2R3C_uc001wst.2_5'Flank|PPP2R3C_uc010tpr.1_5'Flank|PPP2R3C_uc001wsu.2_5'Flank|PPP2R3C_uc010amn.1_5'Flank|PPP2R3C_uc001wsw.2_5'Flank|PPP2R3C_uc001wsx.1_5'Flank NM_014672 NP_055487 O15091 MRRP3_HUMAN mitochondrial RNase P protein 3 precursor 136 tRNA processing mitochondrion 0 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) AGAAAACACCGGAAAGACCAG 0.433 4 57 --- --- --- --- PASS MBIP 51562 broad.mit.edu 37 14 36780893 36780893 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:36780893G>A uc001wtm.2 - 6 764 c.676C>T c.(676-678)CCT>TCT p.P226S MBIP_uc001wto.2_Missense_Mutation_p.P226S|MBIP_uc010tpy.1_Missense_Mutation_p.P85S|MBIP_uc001wtn.2_Missense_Mutation_p.P226S NM_016586 NP_057670 Q9NS73 MBIP1_HUMAN MAP3K12 binding inhibitory protein 1 isoform 1 226 Interaction with MAP3K12. histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus identical protein binding|protein kinase inhibitor activity 0 all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164) Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781) GBM - Glioblastoma multiforme(112;0.0191) ATTCCTTCAGGTCTAGTCTGT 0.373 20 22 --- --- --- --- PASS MIA2 117153 broad.mit.edu 37 14 39709774 39709774 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:39709774G>A uc001wux.2 + 3 453 c.259G>A c.(259-261)GAG>AAG p.E87K MIA2_uc010amy.1_Missense_Mutation_p.E18K NM_054024 NP_473365 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 87 SH3. extracellular region ovary(1)|breast(1) 2 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) GAAAGGAAAGGAGTTTGGATA 0.363 9 34 --- --- --- --- PASS CTAGE5 4253 broad.mit.edu 37 14 39815168 39815168 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:39815168C>T uc001wvg.3 + 21 2228 c.1892C>T c.(1891-1893)TCT>TTT p.S631F CTAGE5_uc010tqe.1_Missense_Mutation_p.S593F|CTAGE5_uc001wuz.3_Missense_Mutation_p.S619F|CTAGE5_uc001wuy.3_Missense_Mutation_p.S551F|CTAGE5_uc001wvb.3_Missense_Mutation_p.S559F|CTAGE5_uc001wvc.3_Missense_Mutation_p.S533F|CTAGE5_uc001wva.3_Missense_Mutation_p.S602F|CTAGE5_uc001wvh.3_Missense_Mutation_p.S588F|CTAGE5_uc001wvf.3_Missense_Mutation_p.S556F|CTAGE5_uc001wvi.3_Missense_Mutation_p.S636F|CTAGE5_uc010amz.2_Missense_Mutation_p.S247F|CTAGE5_uc001wvj.3_Missense_Mutation_p.S602F NM_005930 NP_005921 O15320 CTGE5_HUMAN CTAGE family, member 5 isoform 1 631 Pro-rich. enzyme activator activity|protein binding 0 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0475) TGTTCTAATTCTGGTAGACTG 0.328 33 25 --- --- --- --- PASS CTAGE5 4253 broad.mit.edu 37 14 39818103 39818103 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:39818103C>T uc001wvg.3 + 23 2506 c.2170C>T c.(2170-2172)CCA>TCA p.P724S CTAGE5_uc001wuz.3_Missense_Mutation_p.P712S|CTAGE5_uc001wuy.3_Missense_Mutation_p.P644S|CTAGE5_uc001wvb.3_Missense_Mutation_p.P652S|CTAGE5_uc001wvc.3_Missense_Mutation_p.P626S|CTAGE5_uc001wva.3_Missense_Mutation_p.P695S|CTAGE5_uc001wvh.3_Missense_Mutation_p.P681S|CTAGE5_uc001wvf.3_Missense_Mutation_p.P649S|CTAGE5_uc001wvi.3_Missense_Mutation_p.P729S|CTAGE5_uc010amz.2_Missense_Mutation_p.P340S|CTAGE5_uc001wvj.3_Missense_Mutation_p.P695S NM_005930 NP_005921 O15320 CTGE5_HUMAN CTAGE family, member 5 isoform 1 724 Pro-rich. enzyme activator activity|protein binding 0 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0475) CCCACCTCCTCCAGGAGCCAT 0.488 30 68 --- --- --- --- PASS FSCB 84075 broad.mit.edu 37 14 44975146 44975146 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:44975146C>T uc001wvn.2 - 1 1354 c.1045G>A c.(1045-1047)GAA>AAA p.E349K NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 349 Pro-rich. cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) GGCAGAATTTCAGCCAGAAGC 0.512 59 62 --- --- --- --- PASS FSCB 84075 broad.mit.edu 37 14 44975992 44975992 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:44975992C>T uc001wvn.2 - 1 508 c.199G>A c.(199-201)GAA>AAA p.E67K NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 67 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) CTAGTCATTTCCTGTCCATGC 0.423 55 66 --- --- --- --- PASS MDGA2 161357 broad.mit.edu 37 14 47324289 47324289 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:47324289C>T uc001wwj.3 - 15 2810 c.2614G>A c.(2614-2616)GGG>AGG p.G872R MDGA2_uc001wwh.3_Missense_Mutation_p.G74R|MDGA2_uc001wwi.3_Missense_Mutation_p.G643R NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 872 MAM. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 CCTTTATTCCCACTTGAAGAC 0.308 6 42 --- --- --- --- PASS MDGA2 161357 broad.mit.edu 37 14 47504454 47504454 + Nonsense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:47504454C>A uc001wwj.3 - 8 1568 c.1372G>T c.(1372-1374)GGA>TGA p.G458* MDGA2_uc001wwi.3_Nonsense_Mutation_p.G229*|MDGA2_uc010ani.2_Nonsense_Mutation_p.G18* NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 458 Ig-like 5. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 ATTGTGTCTCCTTCTCTGGTG 0.393 33 23 --- --- --- --- PASS C14orf104 55172 broad.mit.edu 37 14 50101289 50101289 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:50101289C>T uc001wws.3 - 1 660 c.579G>A c.(577-579)AAG>AAA p.K193K SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Silent_p.K193K NM_018139 NP_060609 Q9NVR5 KTU_HUMAN kintoun isoform 1 193 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm 0 all_epithelial(31;0.0021)|Breast(41;0.0124) CTGGGGTCCCCTTATACTTGG 0.682 Kartagener_syndrome 7 41 --- --- --- --- PASS SDCCAG1 9147 broad.mit.edu 37 14 50272849 50272849 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:50272849C>T uc001wxc.2 - 19 1815 c.1747G>A c.(1747-1749)GAA>AAA p.E583K SDCCAG1_uc010anj.1_Missense_Mutation_p.E583K|SDCCAG1_uc010tqi.1_Missense_Mutation_p.E562K|SDCCAG1_uc001wxe.2_Missense_Mutation_p.E541K|SDCCAG1_uc001wxd.1_5'UTR NM_004713 NP_004704 O60524 NEMF_HUMAN serologically defined colon cancer antigen 1 583 cytoplasm|nucleus 0 all_epithelial(31;0.000822)|Breast(41;0.0117) all_lung(585;1.02e-05) OV - Ovarian serous cystadenocarcinoma(311;5.99e-34) GGGATGGGTTCTCCTAGAATA 0.453 18 18 --- --- --- --- PASS CDKL1 8814 broad.mit.edu 37 14 50824773 50824773 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:50824773G>A uc010anu.1 - 15 2195 c.2195C>T c.(2194-2196)CCC>CTC p.P732L CDKL1_uc001wxz.2_Intron NM_004196 NP_004187 Q00532 CDKL1_HUMAN cyclin-dependent kinase-like 1 Error:Variant_position_missing_in_Q00532_after_alignment cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity ovary(1)|stomach(1) 2 all_epithelial(31;0.000746)|Breast(41;0.0102) CTTCAGGAAGGGACCCCCTCC 0.532 14 16 --- --- --- --- PASS FRMD6 122786 broad.mit.edu 37 14 52182080 52182080 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:52182080C>T uc001wzd.2 + 10 1172 c.887C>T c.(886-888)TCT>TTT p.S296F FRMD6_uc001wzb.2_Missense_Mutation_p.S288F|FRMD6_uc001wzc.2_Missense_Mutation_p.S288F|FRMD6_uc001wze.2_Missense_Mutation_p.S219F|FRMD6_uc001wzf.2_5'UTR|FRMD6_uc001wzg.2_5'Flank NM_152330 NP_689543 Q96NE9 FRMD6_HUMAN FERM domain containing 6 296 FERM. cytoskeleton|mitochondrion|plasma membrane binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_epithelial(31;0.0163)|Breast(41;0.089) GGCTTGCCTTCTGCCCGGAAG 0.483 9 42 --- --- --- --- PASS NID2 22795 broad.mit.edu 37 14 52534585 52534585 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:52534585G>T uc001wzo.2 - 2 759 c.525C>A c.(523-525)CCC>CCA p.P175P NID2_uc010tqs.1_Silent_p.P175P|NID2_uc010tqt.1_Silent_p.P175P|NID2_uc001wzp.2_Silent_p.P175P NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 175 NIDO. basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) CCTCTCCCGAGGGCAGCGCCC 0.617 83 49 --- --- --- --- PASS FERMT2 10979 broad.mit.edu 37 14 53341991 53341991 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:53341991G>A uc001xad.2 - 8 1103 c.1048C>T c.(1048-1050)CTT>TTT p.L350F FERMT2_uc001xac.2_Missense_Mutation_p.L350F|FERMT2_uc001xae.2_Missense_Mutation_p.L350F|FERMT2_uc001xaf.2_Missense_Mutation_p.L350F NM_006832 NP_006823 Q96AC1 FERM2_HUMAN fermitin family homolog 2 isoform 1 350 FERM. actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytosol|focal adhesion|stress fiber binding 0 Breast(41;0.0342) AGGTCTGAAAGGGCAGCATCA 0.358 9 61 --- --- --- --- PASS SAMD4A 23034 broad.mit.edu 37 14 55218235 55218235 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:55218235C>T uc001xbb.2 + 5 1154 c.1153C>T c.(1153-1155)CTC>TTC p.L385F SAMD4A_uc001xbc.2_Missense_Mutation_p.L297F NM_015589 NP_056404 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4 isoform 386 SAM. positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity 0 AAGACAAAATCTCCTGAAGTC 0.348 4 48 --- --- --- --- PASS WDHD1 11169 broad.mit.edu 37 14 55429227 55429227 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:55429227G>A uc001xbm.1 - 21 2768 c.2690C>T c.(2689-2691)TCA>TTA p.S897L WDHD1_uc010aom.1_Missense_Mutation_p.S414L|WDHD1_uc001xbn.1_Missense_Mutation_p.S774L NM_007086 NP_009017 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 897 cytoplasm|nucleoplasm DNA binding skin(1) 1 TGACTTAGCTGAAACATCAGA 0.313 20 22 --- --- --- --- PASS C14orf101 54916 broad.mit.edu 37 14 57103235 57103235 + Silent SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:57103235A>G uc001xcm.2 + 15 1910 c.1788A>G c.(1786-1788)ACA>ACG p.T596T C14orf101_uc001xcj.2_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_Silent_p.T129T|C14orf101_uc001xco.2_Silent_p.T129T NM_017799 NP_060269 Q9NX78 CN101_HUMAN hypothetical protein LOC54916 596 integral to membrane breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(311;0.226) GGATGAAAACACCGTTCTTCA 0.418 20 19 --- --- --- --- PASS GPR135 64582 broad.mit.edu 37 14 59931115 59931115 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:59931115A>G uc010apj.2 - 1 945 c.830T>C c.(829-831)TTC>TCC p.F277S GPR135_uc001xed.2_RNA NM_022571 NP_072093 Q8IZ08 GP135_HUMAN G protein-coupled receptor 135 277 Helical; Name=7; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.134) CCCCACGCTGAAGGCCGCGCC 0.711 2 2 --- --- --- --- PASS RTN1 6252 broad.mit.edu 37 14 60212645 60212645 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:60212645C>T uc001xen.1 - 2 1005 c.796G>A c.(796-798)GAT>AAT p.D266N NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 266 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) TCAGAGAGATCATCTATGTAT 0.463 31 35 --- --- --- --- PASS C14orf135 64430 broad.mit.edu 37 14 60581593 60581593 + Missense_Mutation SNP T G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:60581593T>G uc001xer.3 + 2 685 c.163T>G c.(163-165)TTA>GTA p.L55V C14orf135_uc001xeq.2_Missense_Mutation_p.L55V NM_022495 NP_071940 Q63HM2 CN135_HUMAN hepatitis C virus F protein-binding protein 2 289 integral to membrane ovary(2) 2 Myeloproliferative disorder(585;0.163) OV - Ovarian serous cystadenocarcinoma(108;0.127) GTCAACCCACTTACGGTATTT 0.368 15 76 --- --- --- --- PASS KCNH5 27133 broad.mit.edu 37 14 63174668 63174668 + Missense_Mutation SNP T G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:63174668T>G uc001xfx.2 - 11 2576 c.2525A>C c.(2524-2526)GAG>GCG p.E842A KCNH5_uc001xfy.2_3'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 842 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CTTGGGGTCCTCAGACAATAG 0.433 34 30 --- --- --- --- PASS KCNH5 27133 broad.mit.edu 37 14 63269105 63269105 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:63269105G>A uc001xfx.2 - 9 1815 c.1764C>T c.(1762-1764)TGC>TGT p.C588C KCNH5_uc001xfy.2_Silent_p.C588C|KCNH5_uc001xfz.1_Silent_p.C530C NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 588 cNMP.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) ACACCACAAAGCAGAGGGCAT 0.507 21 35 --- --- --- --- PASS KCNH5 27133 broad.mit.edu 37 14 63269132 63269132 + Missense_Mutation SNP A C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:63269132A>C uc001xfx.2 - 9 1788 c.1737T>G c.(1735-1737)CAT>CAG p.H579Q KCNH5_uc001xfy.2_Missense_Mutation_p.H579Q|KCNH5_uc001xfz.1_Missense_Mutation_p.H521Q NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 579 cNMP.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TTTCTCCAGCATGGTAAATGA 0.517 18 28 --- --- --- --- PASS GPHB5 122876 broad.mit.edu 37 14 63784447 63784447 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:63784447C>T uc010apu.2 - 1 117 c.117G>A c.(115-117)AGG>AGA p.R39R GPHB5_uc001xgc.2_Silent_p.R29R NM_145171 NP_660154 Q86YW7 GPHB5_HUMAN glycoprotein beta 5 39 extracellular region hormone activity breast(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978) AAGTAAACTCCCTCACGGCAC 0.617 15 18 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64483250 64483250 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:64483250G>A uc001xgm.2 + 33 5018 c.4788G>A c.(4786-4788)CAG>CAA p.Q1596Q SYNE2_uc001xgl.2_Silent_p.Q1596Q NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1596 Cytoplasmic (Potential).|Potential. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AGATAAACCAGGTCTGCAAAA 0.279 10 10 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64540702 64540702 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:64540702C>T uc001xgm.2 + 53 10944 c.10714C>T c.(10714-10716)CAG>TAG p.Q3572* SYNE2_uc001xgl.2_Nonsense_Mutation_p.Q3572*|SYNE2_uc010apy.2_5'Flank|SYNE2_uc010apw.1_Nonsense_Mutation_p.Q278*|SYNE2_uc010apx.1_5'UTR NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3572 Potential.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TCAGAAAGTTCAGAAAAATAA 0.303 67 63 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64690055 64690055 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:64690055G>T uc001xgm.2 + 112 20500 c.20270G>T c.(20269-20271)CGG>CTG p.R6757L SYNE2_uc001xgl.2_Missense_Mutation_p.R6780L|SYNE2_uc010apy.2_Missense_Mutation_p.R3142L|SYNE2_uc001xgn.2_Missense_Mutation_p.R1719L|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.R727L|SYNE2_uc001xgq.2_Missense_Mutation_p.R1136L|SYNE2_uc001xgr.2_Missense_Mutation_p.R540L|SYNE2_uc010tsi.1_Missense_Mutation_p.R414L|SYNE2_uc001xgs.2_Missense_Mutation_p.R428L|SYNE2_uc001xgt.2_Missense_Mutation_p.R302L NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6757 Potential.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AAACAGTTACGGGAGCAAGTG 0.428 4 43 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64691254 64691254 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:64691254C>T uc001xgm.2 + 113 20619 c.20389C>T c.(20389-20391)CCC>TCC p.P6797S SYNE2_uc001xgl.2_Missense_Mutation_p.P6820S|SYNE2_uc010apy.2_Missense_Mutation_p.P3182S|SYNE2_uc001xgn.2_Missense_Mutation_p.P1759S|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.P767S|SYNE2_uc001xgq.2_Missense_Mutation_p.P1176S|SYNE2_uc001xgr.2_Missense_Mutation_p.P580S|SYNE2_uc010tsi.1_Missense_Mutation_p.P454S|SYNE2_uc001xgs.2_Missense_Mutation_p.P468S|SYNE2_uc001xgt.2_Missense_Mutation_p.P342S NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6797 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CGTGCCAGCTCCCCGAGCAAA 0.532 9 41 --- --- --- --- PASS MTHFD1 4522 broad.mit.edu 37 14 64898345 64898345 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:64898345C>T uc001xhb.2 + 14 1794 c.1407C>T c.(1405-1407)ACC>ACT p.T469T MTHFD1_uc010aqe.2_Silent_p.T505T|MTHFD1_uc010aqf.2_Silent_p.T525T NM_005956 NP_005947 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase 1 469 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) ATGAACTGACCCAGACAGACA 0.468 9 35 --- --- --- --- PASS C14orf50 145376 broad.mit.edu 37 14 65054875 65054875 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:65054875C>T uc001xhl.1 + 11 1040 c.944C>T c.(943-945)CCA>CTA p.P315L C14orf50_uc001xhm.1_Missense_Mutation_p.P45L NM_172365 NP_758953 Q96LQ0 CN050_HUMAN hypothetical protein LOC145376 315 skin(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488) ATGCGTTCTCCAGTCATGTCT 0.438 16 120 --- --- --- --- PASS PLEKHG3 26030 broad.mit.edu 37 14 65207903 65207903 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:65207903C>T uc001xho.1 + 16 1937 c.1668C>T c.(1666-1668)CCC>CCT p.P556P PLEKHG3_uc001xhn.1_Silent_p.P500P|PLEKHG3_uc001xhp.2_Silent_p.P677P|PLEKHG3_uc010aqh.1_Silent_p.P98P|PLEKHG3_uc001xhq.1_Silent_p.P61P NM_015549 NP_056364 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G, 556 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1) 1 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) GGATGGACCCCCCAGGTGACA 0.612 10 62 --- --- --- --- PASS SPTB 6710 broad.mit.edu 37 14 65236401 65236401 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:65236401G>T uc001xht.2 - 27 5898 c.5844C>A c.(5842-5844)ATC>ATA p.I1948I SPTB_uc001xhr.2_Silent_p.I1948I|SPTB_uc001xhs.2_Silent_p.I1948I|SPTB_uc001xhu.2_Silent_p.I1948I|SPTB_uc010aqi.2_Silent_p.I609I NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 1948 Spectrin 16. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TCTCTGCATTGATGCCCTGGT 0.592 5 117 --- --- --- --- PASS FUT8 2530 broad.mit.edu 37 14 66208891 66208891 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:66208891C>T uc001xin.2 + 11 2688 c.1491C>T c.(1489-1491)TAC>TAT p.Y497Y FUT8_uc001xio.2_Silent_p.Y497Y|FUT8_uc010tsp.1_Silent_p.Y334Y|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Silent_p.Y497Y|FUT8_uc001xiq.2_Silent_p.Y368Y|FUT8_uc001xis.2_Silent_p.Y91Y NM_178155 NP_835368 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 isoform a 497 Lumenal (Potential). in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding ovary(1) 1 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) ATGACATCTACTATTTTGGGG 0.418 40 35 --- --- --- --- PASS FUT8 2530 broad.mit.edu 37 14 66209112 66209112 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:66209112C>T uc001xin.2 + 11 2909 c.1712C>T c.(1711-1713)CCT>CTT p.P571L FUT8_uc001xio.2_Missense_Mutation_p.P571L|FUT8_uc010tsp.1_Missense_Mutation_p.P408L|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.P571L|FUT8_uc001xiq.2_Missense_Mutation_p.P442L|FUT8_uc001xis.2_Missense_Mutation_p.P165L NM_178155 NP_835368 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 isoform a 571 Lumenal (Potential). in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding ovary(1) 1 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) CCCACATATCCTGAGGCTGAG 0.443 18 19 --- --- --- --- PASS ZFYVE26 23503 broad.mit.edu 37 14 68221818 68221818 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:68221818C>T uc001xka.2 - 37 7075 c.6936G>A c.(6934-6936)AGG>AGA p.R2312R ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_Silent_p.R158R NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 2312 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TGGTTTTCTTCCTTCCAGAGC 0.498 58 66 --- --- --- --- PASS ZFYVE26 23503 broad.mit.edu 37 14 68221819 68221819 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:68221819C>T uc001xka.2 - 37 7074 c.6935G>A c.(6934-6936)AGG>AAG p.R2312K ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_Missense_Mutation_p.R158K NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 2312 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GGTTTTCTTCCTTCCAGAGCT 0.498 56 66 --- --- --- --- PASS ZFYVE26 23503 broad.mit.edu 37 14 68228265 68228265 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:68228265C>T uc001xka.2 - 35 6545 c.6406G>A c.(6406-6408)GAA>AAA p.E2136K ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_5'UTR|ZFYVE26_uc001xkc.3_Missense_Mutation_p.E2136K NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 2136 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) AGGGTAGCTTCCAGTTCCCTC 0.478 10 10 --- --- --- --- PASS ACTN1 87 broad.mit.edu 37 14 69360386 69360386 + Nonsense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:69360386T>A uc001xkl.2 - 9 1151 c.841A>T c.(841-843)AAG>TAG p.K281* ACTN1_uc010ttb.1_Nonsense_Mutation_p.K216*|ACTN1_uc001xkm.2_Nonsense_Mutation_p.K281*|ACTN1_uc001xkn.2_Nonsense_Mutation_p.K281*|ACTN1_uc001xko.1_Nonsense_Mutation_p.K216*|ACTN1_uc010ttd.1_Nonsense_Mutation_p.K260* NM_001102 NP_001093 P12814 ACTN1_HUMAN actinin, alpha 1 isoform b 281 Spectrin 1.|Interaction with DDN. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) CTGGCCAGCTTCTCGTAGTCT 0.552 6 56 --- --- --- --- PASS SLC8A3 6547 broad.mit.edu 37 14 70515755 70515755 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:70515755C>T uc001xly.2 - 7 2890 c.2136G>A c.(2134-2136)GGG>GGA p.G712G SLC8A3_uc001xlu.2_Silent_p.G69G|SLC8A3_uc001xlv.2_Silent_p.G83G|SLC8A3_uc001xlw.2_Silent_p.G709G|SLC8A3_uc001xlx.2_Silent_p.G710G|SLC8A3_uc001xlz.2_Silent_p.G706G|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Silent_p.G69G NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 712 Cytoplasmic (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(2)|breast(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CATCCTCATCCCCTGCTGAAG 0.527 17 17 --- --- --- --- PASS MAP3K9 4293 broad.mit.edu 37 14 71209074 71209074 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:71209074G>A uc001xmm.2 - 6 1561 c.1561C>T c.(1561-1563)CCT>TCT p.P521S MAP3K9_uc010ttk.1_Missense_Mutation_p.P258S|MAP3K9_uc001xmk.2_Missense_Mutation_p.P215S|MAP3K9_uc001xml.2_Missense_Mutation_p.P521S NM_033141 NP_149132 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 521 KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4). activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity stomach(2)|lung(1)|central_nervous_system(1)|skin(1) 5 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) TGACCAGAAGGGAGGCTGATG 0.602 18 29 --- --- --- --- PASS PCNX 22990 broad.mit.edu 37 14 71542926 71542926 + Silent SNP G C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:71542926G>C uc001xmo.2 + 28 5573 c.5127G>C c.(5125-5127)ACG>ACC p.T1709T PCNX_uc010are.1_Silent_p.T1598T|PCNX_uc010arf.1_Silent_p.T497T NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 1709 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) ATTATGTTACGACCTCGTCTA 0.358 15 26 --- --- --- --- PASS SIPA1L1 26037 broad.mit.edu 37 14 72202099 72202099 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:72202099C>T uc001xms.2 + 20 5525 c.5177C>T c.(5176-5178)CCT>CTT p.P1726L SIPA1L1_uc001xmt.2_Missense_Mutation_p.P1705L|SIPA1L1_uc001xmu.2_Missense_Mutation_p.P1705L|SIPA1L1_uc001xmv.2_Missense_Mutation_p.P1726L|SIPA1L1_uc010ttm.1_Missense_Mutation_p.P1180L|SIPA1L1_uc001xmw.2_Missense_Mutation_p.P491L NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1726 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) CAGATGAAGCCTTACAGCAGG 0.542 33 34 --- --- --- --- PASS PAPLN 89932 broad.mit.edu 37 14 73726100 73726100 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:73726100C>T uc010ttx.1 + 15 1995 c.1832C>T c.(1831-1833)TCT>TTT p.S611F PAPLN_uc001xnw.3_Missense_Mutation_p.S584F|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.S611F|PAPLN_uc010arm.2_5'Flank NM_173462 NP_775733 O95428 PPN_HUMAN papilin 611 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) CCCGCTCCCTCTCTGCAGCAG 0.701 13 12 --- --- --- --- PASS NUMB 8650 broad.mit.edu 37 14 73743958 73743958 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:73743958G>A uc001xny.1 - 13 1604 c.1284C>T c.(1282-1284)CTC>CTT p.L428L NUMB_uc010aro.1_Silent_p.L233L|NUMB_uc010arp.1_Silent_p.L222L|NUMB_uc010arq.1_Silent_p.L282L|NUMB_uc010arr.1_Silent_p.L271L|NUMB_uc001xoa.1_Silent_p.L380L|NUMB_uc001xnz.1_Silent_p.L417L|NUMB_uc001xob.1_Silent_p.L369L|NUMB_uc001xod.1_Silent_p.L380L|NUMB_uc001xoc.1_Silent_p.L428L|NUMB_uc010ars.1_Silent_p.L417L|NUMB_uc010ttz.1_Silent_p.L126L|NUMB_uc001xoe.2_RNA NM_001005743 NP_001005743 P49757 NUMB_HUMAN numb homolog isoform 1 428 axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis integral to plasma membrane ovary(2)|central_nervous_system(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161) CGGCCTGGAAGAGACCTGGAG 0.567 10 11 --- --- --- --- PASS ACOT4 122970 broad.mit.edu 37 14 74060560 74060560 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:74060560C>T uc001xoo.2 + 2 866 c.612C>T c.(610-612)TCC>TCT p.S204S NM_152331 NP_689544 Q8N9L9 ACOT4_HUMAN acyl-CoA thioesterase 4 204 acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process peroxisome carboxylesterase activity|palmitoyl-CoA hydrolase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00331) ACAACATATCCCTGGAGTACT 0.438 30 34 --- --- --- --- PASS YLPM1 56252 broad.mit.edu 37 14 75276419 75276419 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:75276419C>T uc001xqj.3 + 7 4982 c.4858C>T c.(4858-4860)CCT>TCT p.P1620S YLPM1_uc001xql.3_RNA|YLPM1_uc001xqm.1_Missense_Mutation_p.P103S NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 1425 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) CATTCCCCCTCCTGGCCCAGT 0.493 30 26 --- --- --- --- PASS YLPM1 56252 broad.mit.edu 37 14 75282952 75282952 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:75282952T>C uc001xqj.3 + 12 5673 c.5549T>C c.(5548-5550)GTT>GCT p.V1850A YLPM1_uc001xql.3_RNA|YLPM1_uc001xqm.1_Missense_Mutation_p.V333A NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 1655 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) AAGACACATGTTGCAAAACTT 0.363 12 9 --- --- --- --- PASS YLPM1 56252 broad.mit.edu 37 14 75283756 75283756 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:75283756C>T uc001xqj.3 + 14 5932 c.5808C>T c.(5806-5808)GAC>GAT p.D1936D YLPM1_uc001xql.3_RNA|YLPM1_uc001xqm.1_Silent_p.D419D NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 1741 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) CCATCAATGACAGAGTTAGGC 0.403 20 12 --- --- --- --- PASS YLPM1 56252 broad.mit.edu 37 14 75302035 75302035 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:75302035G>A uc001xqj.3 + 20 6486 c.6362G>A c.(6361-6363)GGA>GAA p.G2121E YLPM1_uc001xql.3_RNA NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 1926 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) TTTGTGGTCGGACAGACTGAT 0.438 46 49 --- --- --- --- PASS PROX2 283571 broad.mit.edu 37 14 75321913 75321913 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:75321913C>T uc001xqr.1 - 4 1701 c.1701G>A c.(1699-1701)AAG>AAA p.K567K uc001xqp.1_5'Flank|PROX2_uc001xqq.1_Silent_p.K266K NM_001080408 NP_001073877 Q3B8N5 PROX2_HUMAN prospero homeobox 2 567 Prospero-like. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) AAATGGGTTTCTTCCAGGAAG 0.453 6 26 --- --- --- --- PASS C14orf179 112752 broad.mit.edu 37 14 76488675 76488675 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:76488675C>T uc010asm.1 + 3 187 c.153C>T c.(151-153)TCC>TCT p.S51S C14orf179_uc001xsf.2_RNA|C14orf179_uc010asl.1_Silent_p.S51S|C14orf179_uc001xsg.2_Silent_p.S51S|C14orf179_uc010tve.1_RNA|C14orf179_uc001xse.2_Silent_p.S51S NM_001102564 NP_001096034 Q96FT9 IFT43_HUMAN hypothetical protein LOC112752 isoform 2 51 cilium morphogenesis|intraflagellar retrograde transport 0 BRCA - Breast invasive adenocarcinoma(234;0.0199) TGTAGACTTCCTCTGCTAAAT 0.378 32 43 --- --- --- --- PASS ANGEL1 23357 broad.mit.edu 37 14 77269739 77269739 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:77269739C>T uc001xsv.2 - 7 1706 c.1593G>A c.(1591-1593)ATG>ATA p.M531I ANGEL1_uc010tvf.1_Intron NM_015305 NP_056120 Q9UNK9 ANGE1_HUMAN angel homolog 1 531 ovary(2)|central_nervous_system(1)|skin(1) 4 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) TCACTCCTTCCATAAGGACCA 0.473 9 38 --- --- --- --- PASS STON2 85439 broad.mit.edu 37 14 81744523 81744523 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:81744523G>A uc010tvu.1 - 4 1333 c.1132C>T c.(1132-1134)CAC>TAC p.H378Y STON2_uc001xvk.1_Missense_Mutation_p.H378Y|STON2_uc010tvt.1_Missense_Mutation_p.H175Y NM_033104 NP_149095 Q8WXE9 STON2_HUMAN stonin 2 378 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding skin(3)|pancreas(2) 5 BRCA - Breast invasive adenocarcinoma(234;0.0348) GCATCAGAGTGTGACTGGGTT 0.448 25 51 --- --- --- --- PASS EML5 161436 broad.mit.edu 37 14 89181377 89181377 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:89181377G>A uc001xxg.2 - 10 1536 c.1350C>T c.(1348-1350)TCC>TCT p.S450S EML5_uc001xxh.1_5'UTR NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 450 WD 9. cytoplasm|microtubule ovary(3) 3 TGAAACTAAGGGATCCCAAAC 0.408 26 20 --- --- --- --- PASS FOXN3 1112 broad.mit.edu 37 14 89878376 89878376 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:89878376G>A uc001xxo.3 - 2 582 c.445C>T c.(445-447)CCG>TCG p.P149S FOXN3_uc001xxn.3_Missense_Mutation_p.P149S|FOXN3_uc010atk.2_Missense_Mutation_p.P149S|FOXN3_uc001xxp.2_Missense_Mutation_p.P149S NM_001085471 NP_001078940 O00409 FOXN3_HUMAN checkpoint suppressor 1 isoform 1 149 Fork-head. DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(2)|ovary(1) 3 GCAAAATACGGAAAATGTTCC 0.438 33 51 --- --- --- --- PASS UBR7 55148 broad.mit.edu 37 14 93676181 93676181 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:93676181G>A uc001ybm.3 + 2 398 c.162G>A c.(160-162)AAG>AAA p.K54K C14orf142_uc001ybl.1_5'Flank|UBR7_uc001ybn.3_Intron|UBR7_uc010auq.2_5'UTR NM_175748 NP_786924 Q8N806 UBR7_HUMAN ubiquitin protein ligase E3 component n-recognin 54 UBR-type. ubiquitin-protein ligase activity|zinc ion binding 0 GCTCAGTAAAGAGACAAGCAC 0.403 5 18 --- --- --- --- PASS BTBD7 55727 broad.mit.edu 37 14 93708946 93708946 + Silent SNP C T T rs141130270 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:93708946C>T uc001ybo.2 - 11 3398 c.3072G>A c.(3070-3072)CCG>CCA p.P1024P BTBD7_uc010aur.2_Silent_p.P549P|BTBD7_uc010two.1_Silent_p.P844P|BTBD7_uc001ybp.2_Silent_p.P673P NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 isoform 1 1024 pancreas(1) 1 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) CCAGGTGTATCGGCTCATTCT 0.522 60 63 --- --- --- --- PASS KIAA1409 57578 broad.mit.edu 37 14 94069764 94069764 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:94069764C>T uc001ybv.1 + 23 3306 c.3223C>T c.(3223-3225)CCT>TCT p.P1075S KIAA1409_uc001ybs.1_Nonsense_Mutation_p.R1075* NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) CTCCAAAATTCGTTGAGTATC 0.473 7 30 --- --- --- --- PASS KIAA1409 57578 broad.mit.edu 37 14 94088203 94088203 + Missense_Mutation SNP C T T rs141877928 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:94088203C>T uc001ybv.1 + 28 4242 c.4159C>T c.(4159-4161)CCA>TCA p.P1387S KIAA1409_uc001ybs.1_Missense_Mutation_p.P1365S NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1542 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) CGCACAAAGACCAAACGACCC 0.498 7 77 --- --- --- --- PASS SERPINA5 5104 broad.mit.edu 37 14 95054239 95054239 + Silent SNP G A A rs146244413 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:95054239G>A uc001ydm.2 + 3 750 c.540G>A c.(538-540)ACG>ACA p.T180T SERPINA5_uc010ave.2_Silent_p.T180T|SERPINA5_uc001ydn.1_Silent_p.T180T NM_000624 NP_000615 P05154 IPSP_HUMAN serine (or cysteine) proteinase inhibitor, clade 180 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(2) 2 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) CAAAGCAAACGAAGGGCAAGA 0.483 35 35 --- --- --- --- PASS DICER1 23405 broad.mit.edu 37 14 95557423 95557423 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:95557423G>A uc001ydw.2 - 27 5733 c.5551C>T c.(5551-5553)CGT>TGT p.R1851C DICER1_uc010avh.1_Missense_Mutation_p.R749C|DICER1_uc001ydv.2_Missense_Mutation_p.R1841C|DICER1_uc001ydx.2_Missense_Mutation_p.R1851C NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 1851 DRBM. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) ACAGGGGAACGGGGTACATTT 0.303 Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 9 37 --- --- --- --- PASS DICER1 23405 broad.mit.edu 37 14 95574758 95574758 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:95574758G>A uc001ydw.2 - 16 2521 c.2339C>T c.(2338-2340)CCT>CTT p.P780L DICER1_uc010avh.1_5'Flank|DICER1_uc001ydv.2_Missense_Mutation_p.P770L|DICER1_uc001ydx.2_Missense_Mutation_p.P780L NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 780 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) ATCAGGTAAAGGTGTAGTTAA 0.438 Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 29 45 --- --- --- --- PASS CLMN 79789 broad.mit.edu 37 14 95669744 95669744 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:95669744C>T uc001yef.2 - 9 2058 c.1942G>A c.(1942-1944)GAG>AAG p.E648K NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN calmin 648 integral to membrane actin binding 0 Epithelial(152;0.193) ACTGGTGTCTCTTCTGGGGCT 0.502 30 38 --- --- --- --- PASS TCL1B 9623 broad.mit.edu 37 14 96157137 96157137 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:96157137C>T uc001yez.2 + 2 269 c.227C>T c.(226-228)TCC>TTC p.S76F TCL1B_uc001yew.2_RNA|TCL1B_uc001yex.2_RNA|TCL1B_uc010avj.2_RNA|TCL1B_uc001yfa.2_Missense_Mutation_p.S76F NM_004918 NP_004909 O95988 TCL1B_HUMAN T-cell leukemia/lymphoma 1B 76 ovary(1) 1 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) CTACTCTCCTCCGGCCAGATG 0.577 4 35 --- --- --- --- PASS BDKRB1 623 broad.mit.edu 37 14 96730835 96730835 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:96730835G>A uc001yfh.2 + 3 1024 c.816G>A c.(814-816)CTG>CTA p.L272L BDKRB1_uc010avn.2_Intron NM_000710 NP_000701 P46663 BKRB1_HUMAN bradykinin receptor B1 272 Helical; Name=6; (Potential). elevation of cytosolic calcium ion concentration endoplasmic reticulum|integral to plasma membrane bradykinin receptor activity ovary(3) 3 all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226) TTGCCTTCCTGGAATTCTTAT 0.562 24 25 --- --- --- --- PASS ATG2B 55102 broad.mit.edu 37 14 96813608 96813608 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:96813608G>A uc001yfi.2 - 2 598 c.233C>T c.(232-234)TCC>TTC p.S78F NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 78 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) AACTGACAGGGAAATTGACTG 0.453 20 11 --- --- --- --- PASS CCNK 8812 broad.mit.edu 37 14 99968655 99968655 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:99968655C>T uc001ygi.3 + 7 817 c.687C>T c.(685-687)CCC>CCT p.P229P CCNK_uc001ygg.3_Silent_p.P229P NM_001099402 NP_001092872 O75909 CCNK_HUMAN cyclin K isoform 1 229 cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein kinase binding 0 all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866) CCTCCAAACCCATGTATAGGA 0.483 6 32 --- --- --- --- PASS HHIPL1 84439 broad.mit.edu 37 14 100129338 100129338 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:100129338C>T uc010avs.2 + 6 1693 c.1628C>T c.(1627-1629)TCC>TTC p.S543F HHIPL1_uc001ygl.1_Missense_Mutation_p.S543F NM_001127258 NP_001120730 Q96JK4 HIPL1_HUMAN HHIP-like protein 1 isoform a 543 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity skin(2) 2 Melanoma(154;0.128) TACATCATCTCCTTCGGGGAG 0.602 5 48 --- --- --- --- PASS MIR329-1 574408 broad.mit.edu 37 14 101493169 101493169 + RNA SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:101493169G>A hsa-mir-329-1|MI0001725 + c.48G>A MIR329-2_hsa-mir-329-2|MI0001726_5'Flank|MIR494_hsa-mir-494|MI0003134_5'Flank|uc010txm.1_5'Flank 0 TAATGAGGACGAAACACACCT 0.468 9 64 --- --- --- --- PASS PPP2R5C 5527 broad.mit.edu 37 14 102372829 102372829 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:102372829C>T uc001yko.2 + 10 1254 c.1114C>T c.(1114-1116)CCT>TCT p.P372S PPP2R5C_uc010txr.1_Missense_Mutation_p.P403S|PPP2R5C_uc001ykk.2_Missense_Mutation_p.P427S|PPP2R5C_uc010txt.1_Missense_Mutation_p.P362S|PPP2R5C_uc001ykn.2_Missense_Mutation_p.P372S|PPP2R5C_uc001ykp.2_Missense_Mutation_p.P372S|PPP2R5C_uc001ykq.2_Intron NM_002719 NP_002710 Q13362 2A5G_HUMAN gamma isoform of regulatory subunit B56, protein 372 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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction chromosome, centromeric region|nucleus|protein phosphatase type 2A complex protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity ovary(1)|breast(1) 2 CATCATGTTTCCTTCCTTGTA 0.413 9 72 --- --- --- --- PASS PPP2R5C 5527 broad.mit.edu 37 14 102375971 102375971 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:102375971G>T uc001yko.2 + 11 1337 c.1197G>T c.(1195-1197)GAG>GAT p.E399D PPP2R5C_uc010txr.1_Missense_Mutation_p.E430D|PPP2R5C_uc001ykk.2_Missense_Mutation_p.E454D|PPP2R5C_uc001ykn.2_Missense_Mutation_p.E399D|PPP2R5C_uc001ykp.2_Missense_Mutation_p.E399D|PPP2R5C_uc001ykq.2_Missense_Mutation_p.D255Y NM_002719 NP_002710 Q13362 2A5G_HUMAN gamma isoform of regulatory subunit B56, protein 399 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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction chromosome, centromeric region|nucleus|protein phosphatase type 2A complex protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity ovary(1)|breast(1) 2 TCTTCATGGAGATGAACCAAA 0.438 12 73 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102442056 102442056 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:102442056C>T uc001yks.2 + 2 428 c.264C>T c.(262-264)GTC>GTT p.V88V NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 88 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 TAGAGGACGTCGGTGATGAAG 0.303 26 28 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102476637 102476637 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:102476637C>T uc001yks.2 + 31 6410 c.6246C>T c.(6244-6246)TCC>TCT p.S2082S NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 2082 AAA 1 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 AGCTCTCTTCCCAAAGCCATT 0.413 25 31 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102505342 102505342 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:102505342A>T uc001yks.2 + 60 11375 c.11211A>T c.(11209-11211)GAA>GAT p.E3737D NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 3737 Potential.|AAA 5 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 TTTAAGGGGAATTTCAGCTCC 0.428 38 37 --- --- --- --- PASS TECPR2 9895 broad.mit.edu 37 14 102931580 102931580 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:102931580C>T uc001ylw.1 + 17 3891 c.3743C>T c.(3742-3744)CCC>CTC p.P1248L TECPR2_uc010awl.2_Missense_Mutation_p.P1248L|TECPR2_uc010txx.1_Missense_Mutation_p.P411L NM_014844 NP_055659 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 1248 TECPR 4. protein binding lung(1)|central_nervous_system(1)|skin(1) 3 CCTCTCAATCCCAGTCTCATG 0.493 19 33 --- --- --- --- PASS PPP1R13B 23368 broad.mit.edu 37 14 104206338 104206338 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:104206338G>A uc001yof.1 - 12 2698 c.2415C>T c.(2413-2415)ATC>ATT p.I805I PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Silent_p.I672I NM_015316 NP_056131 Q96KQ4 ASPP1_HUMAN apoptosis-stimulating protein of p53, 1 805 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) TTTGGGGACAGATGAGCTCCT 0.622 19 24 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105405869 105405869 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:105405869G>A uc010axc.1 - 7 16039 c.15919C>T c.(15919-15921)CCT>TCT p.P5307S AHNAK2_uc001ypx.2_Missense_Mutation_p.P5207S NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5307 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ATCTGAAAAGGGAGAGGTCCT 0.527 23 19 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105405870 105405870 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:105405870G>A uc010axc.1 - 7 16038 c.15918C>T c.(15916-15918)CTC>CTT p.L5306L AHNAK2_uc001ypx.2_Silent_p.L5206L NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5306 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCTGAAAAGGGAGAGGTCCTT 0.527 23 20 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105408689 105408689 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:105408689G>A uc010axc.1 - 7 13219 c.13099C>T c.(13099-13101)CCA>TCA p.P4367S AHNAK2_uc001ypx.2_Missense_Mutation_p.P4267S NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4367 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGGCCCTCTGGGAGTTTCACA 0.617 57 51 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105411071 105411071 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:105411071C>T uc010axc.1 - 7 10837 c.10717G>A c.(10717-10719)GGC>AGC p.G3573S AHNAK2_uc001ypx.2_Missense_Mutation_p.G3473S NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3573 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ATCTGGGGGCCCTTGAGGTCC 0.622 24 134 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105412215 105412215 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:105412215G>A uc010axc.1 - 7 9693 c.9573C>T c.(9571-9573)ATC>ATT p.I3191I AHNAK2_uc001ypx.2_Silent_p.I3091I NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3191 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCTCAATGCTGATGTCAGTGT 0.627 30 20 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105416597 105416597 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:105416597G>A uc010axc.1 - 7 5311 c.5191C>T c.(5191-5193)CTT>TTT p.L1731F AHNAK2_uc001ypx.2_Missense_Mutation_p.L1631F NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1731 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCCTCGGGAAGGGGGCCCTCC 0.632 81 69 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105420408 105420408 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:105420408G>A uc010axc.1 - 7 1500 c.1380C>T c.(1378-1380)ATC>ATT p.I460I AHNAK2_uc001ypx.2_Silent_p.I360I NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 460 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGGCGATCCCGATTTCCAGGC 0.572 19 23 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106091377 106091377 + RNA SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:106091377C>T uc010tyt.1 - 3647 c.62131G>A uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron Parts of antibodies, mostly variable regions. 0 AACTGCTCCTCCCGCGGCTTT 0.592 21 219 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106321812 106321812 + RNA SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:106321812G>A uc010tyt.1 - 3599 c.55584C>T uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Intron|uc001ysk.1_Intron|uc001ysl.1_Intron|uc001ysm.1_Intron|uc001ysn.1_Intron|uc001yso.1_Intron Parts of antibodies, mostly variable regions. 0 AATCTGCCGGGGACTGAAACC 0.662 9 8 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106406009 106406009 + RNA SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:106406009C>T uc010tyt.1 - 2357 c.42138G>A Parts of antibodies, mostly variable regions. 0 GACACTGACCCCATGGGAGGC 0.552 12 11 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106586560 106586560 + RNA SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:106586560G>A uc010tyt.1 - 1284 c.27758C>T uc001ysv.2_Intron Parts of antibodies, mostly variable regions. 0 ATAGCAACAAGGAAAACCCAG 0.468 23 133 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106641581 106641581 + RNA SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:106641581G>A uc010tyt.1 - 1021 c.24420C>T Parts of antibodies, mostly variable regions. 0 AGTAATACACGGCCGTGTCGT 0.537 91 80 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106725383 106725383 + RNA SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:106725383G>A uc010tyt.1 - 588 c.18164C>T Parts of antibodies, mostly variable regions. 0 GGAGCCTGGCGGACCCAGCTC 0.597 79 218 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106805452 106805452 + RNA SNP C G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:106805452C>G uc010tyt.1 - 360 c.13756G>C uc001ysw.1_5'Flank Parts of antibodies, mostly variable regions. 0 AGGTGAGGGACAGGGTCTGTG 0.617 8 105 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 107282958 107282958 + RNA SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr14:107282958T>C uc010tyt.1 - 2 c.108A>G uc001ytb.1_Missense_Mutation_p.Q62R Parts of antibodies, mostly variable regions. 0 CTCAAGCCCTTGTCCAGGGGC 0.557 20 137 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 15 20644853 20644853 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:20644853C>T uc001ytg.2 - 21 3114 c.2405G>A c.(2404-2406)AGG>AAG p.R802K uc010tyx.1_RNA|uc001yth.3_Missense_Mutation_p.R802K|uc010tyy.1_Missense_Mutation_p.R802K RecName: Full=Putative HERC2-like protein 3; GTCCCTCGCCCTTTCGGTCTT 0.453 6 44 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 15 20649560 20649560 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:20649560C>T uc001ytg.2 - 18 2658 c.1949G>A c.(1948-1950)GGA>GAA p.G650E uc010tyx.1_RNA|uc001yth.3_Missense_Mutation_p.G650E|uc010tyy.1_Missense_Mutation_p.G650E RecName: Full=Putative HERC2-like protein 3; GTCGTAATTTCCTTCTTTCCC 0.592 25 113 --- --- --- --- PASS CYFIP1 23191 broad.mit.edu 37 15 22955156 22955156 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:22955156C>T uc001yus.2 + 15 1654 c.1550C>T c.(1549-1551)ACC>ATC p.T517I CYFIP1_uc001yut.2_Missense_Mutation_p.T517I|CYFIP1_uc010aya.1_Missense_Mutation_p.T545I|CYFIP1_uc001yuu.2_5'Flank NM_014608 NP_055423 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 isoform 517 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding ovary(4)|pancreas(3)|liver(1)|skin(1) 9 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) ATCAGGAAGACCGTGTGTGAC 0.607 19 30 --- --- --- --- PASS MKRN3 7681 broad.mit.edu 37 15 23811263 23811263 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:23811263G>A uc001ywh.3 + 1 810 c.334G>A c.(334-336)GGG>AGG p.G112R MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.G112R NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 112 C3H1-type 1. ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GTGCAAGGAGGGGGAGAACTG 0.597 15 29 --- --- --- --- PASS MAGEL2 54551 broad.mit.edu 37 15 23890071 23890071 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:23890071G>A uc001ywj.3 - 1 1105 c.1010C>T c.(1009-1011)CCC>CTC p.P337L NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) CAGGCCACGGGGGGTGTTTGG 0.657 16 21 --- --- --- --- PASS C15orf2 23742 broad.mit.edu 37 15 24921171 24921171 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:24921171C>T uc001ywo.2 + 1 631 c.157C>T c.(157-159)CGG>TGG p.R53W NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 53 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) CCTGTTCCGCCGGAACGCCCG 0.756 4 9 --- --- --- --- PASS C15orf2 23742 broad.mit.edu 37 15 24921212 24921212 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:24921212C>T uc001ywo.2 + 1 672 c.198C>T c.(196-198)GTC>GTT p.V66V NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 66 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) GCATCTTCGTCGCCCCTAAGA 0.721 5 10 --- --- --- --- PASS C15orf2 23742 broad.mit.edu 37 15 24921772 24921772 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:24921772G>A uc001ywo.2 + 1 1232 c.758G>A c.(757-759)GGA>GAA p.G253E NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 253 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) CGGCATCTTGGAAAGCCTGAT 0.637 5 27 --- --- --- --- PASS C15orf2 23742 broad.mit.edu 37 15 24921840 24921840 + Silent SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:24921840T>C uc001ywo.2 + 1 1300 c.826T>C c.(826-828)TTG>CTG p.L276L NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 276 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) GCAGCAGAAGTTGGCTGCGGA 0.612 9 22 --- --- --- --- PASS C15orf2 23742 broad.mit.edu 37 15 24922790 24922790 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:24922790C>T uc001ywo.2 + 1 2250 c.1776C>T c.(1774-1776)TCC>TCT p.S592S NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 592 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) TCACATCTTCCCTAAGCTCCA 0.488 19 32 --- --- --- --- PASS C15orf2 23742 broad.mit.edu 37 15 24923080 24923080 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:24923080C>T uc001ywo.2 + 1 2540 c.2066C>T c.(2065-2067)TCA>TTA p.S689L NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 689 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) TCTACAGCATCATCATCCAAA 0.512 15 90 --- --- --- --- PASS ATP10A 57194 broad.mit.edu 37 15 25925106 25925106 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:25925106G>A uc010ayu.2 - 21 3988 c.3882C>T c.(3880-3882)TCC>TCT p.S1294S NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 1294 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TCCCCTGGAGGGATCTGAAAA 0.483 18 73 --- --- --- --- PASS ATP10A 57194 broad.mit.edu 37 15 25972344 25972344 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:25972344C>T uc010ayu.2 - 4 916 c.810G>A c.(808-810)AGG>AGA p.R270R NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 270 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) CGTCCGTGTTCCTAAGGGTGC 0.582 14 31 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28386602 28386602 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:28386602G>A uc001zbj.2 - 78 12097 c.11991C>T c.(11989-11991)CTC>CTT p.L3997L NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3997 RCC1 13. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TCACAGCAAAGAGGGTCTGTT 0.522 11 33 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28391399 28391399 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:28391399G>A uc001zbj.2 - 71 11098 c.10992C>T c.(10990-10992)ATC>ATT p.I3664I NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3664 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GCACGGAGACGATCCTGTTGA 0.562 11 24 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28413656 28413656 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:28413656G>A uc001zbj.2 - 67 10416 c.10310C>T c.(10309-10311)TCC>TTC p.S3437F NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3437 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AGATGCGTCGGAAGGGGCCGC 0.577 16 26 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28508279 28508279 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:28508279T>A uc001zbj.2 - 15 2013 c.1907A>T c.(1906-1908)AAA>ATA p.K636I HERC2_uc001zbl.1_Missense_Mutation_p.K331I NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 636 RCC1 3. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TCTGCCCAATTTCCCATAGTC 0.408 10 44 --- --- --- --- PASS APBA2 321 broad.mit.edu 37 15 29346206 29346206 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:29346206G>A uc001zck.2 + 3 326 c.119G>A c.(118-120)GGC>GAC p.G40D APBA2_uc010azj.2_Missense_Mutation_p.G40D|APBA2_uc010uat.1_Missense_Mutation_p.G40D|APBA2_uc001zcl.2_Missense_Mutation_p.G40D|APBA2_uc010uas.1_Missense_Mutation_p.G40D NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 40 nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) CCCTTGGAGGGCTATGTGCCC 0.677 7 21 --- --- --- --- PASS APBA2 321 broad.mit.edu 37 15 29346759 29346759 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:29346759G>A uc001zck.2 + 3 879 c.672G>A c.(670-672)GAG>GAA p.E224E APBA2_uc010azj.2_Silent_p.E224E|APBA2_uc010uat.1_Silent_p.E224E|APBA2_uc001zcl.2_Silent_p.E224E|APBA2_uc010uas.1_Silent_p.E224E NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 224 STXBP1-binding. nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) ACCAGGAGGAGGACATTGACC 0.652 4 9 --- --- --- --- PASS APBA2 321 broad.mit.edu 37 15 29400587 29400587 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:29400587G>A uc001zck.2 + 12 2239 c.2032G>A c.(2032-2034)GGA>AGA p.G678R APBA2_uc010azj.2_Missense_Mutation_p.G666R|APBA2_uc010uat.1_Missense_Mutation_p.G666R|APBA2_uc001zcl.2_Missense_Mutation_p.G666R NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 678 PDZ 2. nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) CGTGCAGAATGGAATTGTGAG 0.617 23 41 --- --- --- --- PASS TJP1 7082 broad.mit.edu 37 15 30058721 30058721 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:30058721G>A uc001zcr.2 - 5 812 c.337C>T c.(337-339)CAA>TAA p.Q113* TJP1_uc010azl.2_Nonsense_Mutation_p.Q101*|TJP1_uc001zcq.2_Nonsense_Mutation_p.Q117*|TJP1_uc001zcs.2_Nonsense_Mutation_p.Q113* NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 113 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) ACTGGTATTTGAACTTTCTTC 0.353 13 29 --- --- --- --- PASS FMN1 342184 broad.mit.edu 37 15 33261033 33261033 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:33261033G>A uc001zhf.3 - 4 2200 c.2200C>T c.(2200-2202)CCT>TCT p.P734S NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 957 FH1.|Pro-rich. actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) AAGAGTCCAGGGGGAGGTGGG 0.517 22 45 --- --- --- --- PASS FMN1 342184 broad.mit.edu 37 15 33261034 33261034 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:33261034G>A uc001zhf.3 - 4 2199 c.2199C>T c.(2197-2199)CCC>CCT p.P733P NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 956 FH1.|Pro-rich. actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) AGAGTCCAGGGGGAGGTGGGG 0.517 22 44 --- --- --- --- PASS FMN1 342184 broad.mit.edu 37 15 33261074 33261074 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:33261074G>A uc001zhf.3 - 4 2159 c.2159C>T c.(2158-2160)CCT>CTT p.P720L NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 943 FH1.|Pro-rich. actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) TGGAGCAGGAGGAGGCCCTCC 0.473 13 16 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33993236 33993236 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:33993236C>A uc001zhi.2 + 42 6508 c.6438C>A c.(6436-6438)GAC>GAA p.D2146E RYR3_uc010bar.2_Missense_Mutation_p.D2146E NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2146 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTGTGATGGACAACAATGAGT 0.567 OREG0023030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 15 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34015006 34015006 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:34015006G>A uc001zhi.2 + 44 6780 c.6710G>A c.(6709-6711)GGA>GAA p.G2237E RYR3_uc010bar.2_Missense_Mutation_p.G2237E NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2237 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGTGAGGGGGGAAACGGGCTC 0.572 36 68 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34047308 34047308 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:34047308G>A uc001zhi.2 + 58 8512 c.8442G>A c.(8440-8442)AAG>AAA p.K2814K RYR3_uc010bar.2_Silent_p.K2814K NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2814 4.|Cytoplasmic (By similarity).|4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CCATGGAGAAGAGGTTTGCCT 0.433 10 20 --- --- --- --- PASS AVEN 57099 broad.mit.edu 37 15 34159869 34159869 + Missense_Mutation SNP T G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:34159869T>G uc001zhj.2 - 5 856 c.800A>C c.(799-801)GAT>GCT p.D267A NM_020371 NP_065104 Q9NQS1 AVEN_HUMAN cell death regulator aven 267 anti-apoptosis|apoptosis endomembrane system|intracellular|membrane|membrane fraction protein binding kidney(1) 1 all_lung(180;1.78e-08) all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359) TTTCTGAGAATCCCTTGAAGG 0.522 16 42 --- --- --- --- PASS SLC12A6 9990 broad.mit.edu 37 15 34551145 34551145 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:34551145C>T uc001zhw.2 - 4 576 c.412G>A c.(412-414)GAA>AAA p.E138K SLC12A6_uc001zhv.2_Missense_Mutation_p.E87K|SLC12A6_uc001zhx.2_Missense_Mutation_p.E123K|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.E79K|SLC12A6_uc001zib.2_Missense_Mutation_p.E129K|SLC12A6_uc001zic.2_Missense_Mutation_p.E138K|SLC12A6_uc010bau.2_Missense_Mutation_p.E138K|SLC12A6_uc001zid.2_Missense_Mutation_p.E79K|SLC12A6_uc001zhu.2_5'UTR NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN solute carrier family 12, member 6 isoform a 138 Cytoplasmic (Potential). angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|ovary(1)|skin(1) 7 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) TCCATTTCTTCCTATAAAGCC 0.388 7 21 --- --- --- --- PASS C15orf55 256646 broad.mit.edu 37 15 34648436 34648436 + Missense_Mutation SNP G A A rs140018699 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:34648436G>A uc001zif.2 + 7 2298 c.2143G>A c.(2143-2145)GAT>AAT p.D715N C15orf55_uc010ucc.1_Missense_Mutation_p.D743N|C15orf55_uc010ucd.1_Missense_Mutation_p.D733N NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 715 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) GGAGAGGGACGATGTCTGTCT 0.542 T BRD3|BRD4 lethal midline carcinoma 15 26 --- --- --- --- PASS AQR 9716 broad.mit.edu 37 15 35149101 35149101 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:35149101G>A uc001ziv.2 - 35 4531 c.4350C>T c.(4348-4350)GCC>GCT p.A1450A NM_014691 NP_055506 O60306 AQR_HUMAN aquarius 1450 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) AAGCAGGGATGGCTTCTGGAG 0.552 18 36 --- --- --- --- PASS AQR 9716 broad.mit.edu 37 15 35202474 35202474 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:35202474G>A uc001ziv.2 - 17 1706 c.1525C>T c.(1525-1527)CGA>TGA p.R509* NM_014691 NP_055506 O60306 AQR_HUMAN aquarius 509 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) TGGGCCATTCGCGCCCAACCA 0.443 11 17 --- --- --- --- PASS THBS1 7057 broad.mit.edu 37 15 39874751 39874751 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:39874751C>T uc001zkh.2 + 3 604 c.425C>T c.(424-426)TCT>TTT p.S142F NM_003246 NP_003237 P07996 TSP1_HUMAN thrombospondin 1 precursor 142 TSP N-terminal. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding ovary(3)|central_nervous_system(3) 6 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) CACGTGGTGTCTGTGGAAGAA 0.587 8 16 --- --- --- --- PASS EIF2AK4 440275 broad.mit.edu 37 15 40293219 40293219 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:40293219G>A uc001zkm.1 + 21 3003 c.2953G>A c.(2953-2955)GAT>AAT p.D985N EIF2AK4_uc010bbj.1_Missense_Mutation_p.D686N|EIF2AK4_uc001zkn.1_Missense_Mutation_p.D85N|EIF2AK4_uc001zko.1_5'Flank NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 985 Protein kinase 2. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity lung(2)|stomach(1)|skin(1) 4 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) GTTGAACCACGATCCAGCAAA 0.527 34 65 --- --- --- --- PASS C15orf57 90416 broad.mit.edu 37 15 40855148 40855148 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:40855148A>G uc001zmc.1 - 2 157 c.67T>C c.(67-69)TGT>CGT p.C23R C15orf57_uc001zly.2_Missense_Mutation_p.C21R|C15orf57_uc001zma.1_Missense_Mutation_p.C32R|C15orf57_uc001zmb.1_Missense_Mutation_p.C23R|C15orf57_uc010bbr.2_Missense_Mutation_p.C21R NM_001080792 NP_001074261 Q9BV29 CO057_HUMAN coiled-coil domain containing 32 isoform a 23 ovary(1) 1 AGACAGGAACAAATTTCAGCC 0.468 57 104 --- --- --- --- PASS ZFYVE19 84936 broad.mit.edu 37 15 41102149 41102149 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:41102149C>T uc001zmt.1 + 4 1066 c.552C>T c.(550-552)CTC>CTT p.L184L DNAJC17_uc001zms.1_5'Flank|DNAJC17_uc010bbz.1_5'Flank|DNAJC17_uc010bca.1_5'Flank|DNAJC17_uc010bcb.1_5'Flank|ZFYVE19_uc001zmu.1_Silent_p.L184L|ZFYVE19_uc001zmv.1_Silent_p.L9L|ZFYVE19_uc001zmw.1_Silent_p.L9L|ZFYVE19_uc001zmx.1_Silent_p.L9L|ZFYVE19_uc010bcc.1_Silent_p.L9L NM_001077268 NP_001070736 Q96K21 ZFY19_HUMAN zinc finger, FYVE domain containing 19 184 zinc ion binding 0 all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164) TAGCACGACTCCGCCAGGAGA 0.602 21 28 --- --- --- --- PASS ZFYVE19 84936 broad.mit.edu 37 15 41102150 41102150 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:41102150C>T uc001zmt.1 + 4 1067 c.553C>T c.(553-555)CGC>TGC p.R185C DNAJC17_uc001zms.1_5'Flank|DNAJC17_uc010bbz.1_5'Flank|DNAJC17_uc010bca.1_5'Flank|DNAJC17_uc010bcb.1_5'Flank|ZFYVE19_uc001zmu.1_Missense_Mutation_p.R185C|ZFYVE19_uc001zmv.1_Missense_Mutation_p.R10C|ZFYVE19_uc001zmw.1_Missense_Mutation_p.R10C|ZFYVE19_uc001zmx.1_Missense_Mutation_p.R10C|ZFYVE19_uc010bcc.1_Missense_Mutation_p.R10C NM_001077268 NP_001070736 Q96K21 ZFY19_HUMAN zinc finger, FYVE domain containing 19 185 zinc ion binding 0 all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164) AGCACGACTCCGCCAGGAGAA 0.602 21 30 --- --- --- --- PASS RPAP1 26015 broad.mit.edu 37 15 41817284 41817284 + Silent SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:41817284C>A uc001zod.2 - 15 2104 c.1980G>T c.(1978-1980)CTG>CTT p.L660L RPAP1_uc001zoc.2_5'Flank NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 660 nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GGGGCAAGGCCAGTTCTTGGG 0.607 7 8 --- --- --- --- PASS RPAP1 26015 broad.mit.edu 37 15 41820527 41820527 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:41820527C>T uc001zod.2 - 10 1290 c.1166G>A c.(1165-1167)GGG>GAG p.G389E NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 389 nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) TAGGGAATACCCCGCTCTCTG 0.547 4 6 --- --- --- --- PASS MAPKBP1 23005 broad.mit.edu 37 15 42107463 42107463 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:42107463C>T uc001zok.3 + 12 1481 c.1195C>T c.(1195-1197)CCC>TCC p.P399S MAPKBP1_uc001zoj.3_Missense_Mutation_p.P393S|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Missense_Mutation_p.P393S|MAPKBP1_uc010udb.1_Intron|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_5'UTR NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 399 WD 6. central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) TCAGGTCTACCCCGAGGTGAA 0.562 10 50 --- --- --- --- PASS MAPKBP1 23005 broad.mit.edu 37 15 42107464 42107464 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:42107464C>T uc001zok.3 + 12 1482 c.1196C>T c.(1195-1197)CCC>CTC p.P399L MAPKBP1_uc001zoj.3_Missense_Mutation_p.P393L|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Missense_Mutation_p.P393L|MAPKBP1_uc010udb.1_Intron|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_5'UTR NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 399 WD 6. central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) CAGGTCTACCCCGAGGTGAAG 0.567 11 49 --- --- --- --- PASS PLA2G4E 123745 broad.mit.edu 37 15 42279560 42279560 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:42279560G>A uc001zow.1 - 16 1758 c.1758C>T c.(1756-1758)ATC>ATT p.I586I PLA2G4E_uc010udc.1_Silent_p.I58I|PLA2G4E_uc001zov.1_Silent_p.I239I NM_001080490 NP_001073959 Q3MJ16 PA24E_HUMAN phospholipase A2, group 4E 603 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity 0 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) TTTCAGGCAGGATCGGCTCGT 0.557 8 23 --- --- --- --- PASS PLA2G4F 255189 broad.mit.edu 37 15 42436707 42436707 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:42436707G>A uc001zoz.2 - 17 1979 c.1916C>T c.(1915-1917)ACC>ATC p.T639I PLA2G4F_uc010bcq.2_5'UTR|PLA2G4F_uc001zoy.2_Missense_Mutation_p.T271I|PLA2G4F_uc010bcr.2_Missense_Mutation_p.T390I|PLA2G4F_uc001zpa.2_Missense_Mutation_p.T390I|PLA2G4F_uc010bcs.2_Missense_Mutation_p.T426I NM_213600 NP_998765 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 639 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity ovary(4) 4 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) GAGACCCCGGGTGAAGTTAAA 0.622 17 22 --- --- --- --- PASS TMEM87A 25963 broad.mit.edu 37 15 42553440 42553440 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:42553440G>A uc010udd.1 - 5 572 c.413C>T c.(412-414)TCT>TTT p.S138F TMEM87A_uc001zpf.3_Missense_Mutation_p.S77F|TMEM87A_uc010bcu.1_Missense_Mutation_p.S77F|TMEM87A_uc001zpg.2_Missense_Mutation_p.S138F NM_015497 NP_056312 Q8NBN3 TM87A_HUMAN transmembrane protein 87A isoform 1 138 integral to membrane ovary(1) 1 all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;1.03e-06) AAAATCTCCAGAAAAGGTCTA 0.318 3 15 --- --- --- --- PASS GANC 2595 broad.mit.edu 37 15 42580012 42580012 + Missense_Mutation SNP G T T rs149261745 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:42580012G>T uc001zpi.2 + 4 639 c.325G>T c.(325-327)GTA>TTA p.V109L GANC_uc001zph.2_Missense_Mutation_p.V109L|GANC_uc001zpj.1_5'UTR NM_198141 NP_937784 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 109 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity central_nervous_system(2) 2 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) GCCAAGCACTGTAAGGTAAGC 0.363 17 41 --- --- --- --- PASS CAPN3 825 broad.mit.edu 37 15 42652294 42652294 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:42652294C>T uc001zpn.1 + 1 597 c.291C>T c.(289-291)TTC>TTT p.F97F CAPN3_uc001zpk.1_Intron|CAPN3_uc001zpl.1_Intron|CAPN3_uc010udf.1_Intron|CAPN3_uc010udg.1_Intron|CAPN3_uc001zpo.1_Silent_p.F97F|CAPN3_uc001zpp.1_Silent_p.F97F NM_000070 NP_000061 P20807 CAN3_HUMAN calpain 3 isoform a 97 Calpain catalytic. Missing (in LGMD2A). muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity central_nervous_system(1) 1 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) CCATCCAGTTCGTCTGGAAGA 0.527 53 132 --- --- --- --- PASS ZFP106 64397 broad.mit.edu 37 15 42710095 42710095 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:42710095G>A uc001zpw.2 - 18 5838 c.5503C>T c.(5503-5505)CTG>TTG p.L1835L ZFP106_uc001zpu.2_Silent_p.L933L|ZFP106_uc001zpv.2_Silent_p.L1020L|ZFP106_uc001zpx.2_Silent_p.L1063L NM_022473 NP_071918 Q9H2Y7 ZF106_HUMAN zinc finger protein 106 homolog 1835 C2H2-type 2; atypical. nucleolus zinc ion binding central_nervous_system(2)|ovary(1) 3 all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.6e-07) TGGTCGGTCAGCAAGTGTTGT 0.443 14 29 --- --- --- --- PASS ZFP106 64397 broad.mit.edu 37 15 42717087 42717087 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:42717087T>A uc001zpw.2 - 13 5401 c.5066A>T c.(5065-5067)AAT>ATT p.N1689I ZFP106_uc001zpu.2_Missense_Mutation_p.N787I|ZFP106_uc001zpv.2_Missense_Mutation_p.N874I|ZFP106_uc001zpx.2_Missense_Mutation_p.N917I NM_022473 NP_071918 Q9H2Y7 ZF106_HUMAN zinc finger protein 106 homolog 1689 WD 3. nucleolus zinc ion binding central_nervous_system(2)|ovary(1) 3 all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.6e-07) GAGCAGTCCATTCCGGGCATC 0.517 8 19 --- --- --- --- PASS ZFP106 64397 broad.mit.edu 37 15 42734294 42734294 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:42734294G>A uc001zpw.2 - 7 4006 c.3671C>T c.(3670-3672)TCC>TTC p.S1224F ZFP106_uc001zpu.2_Missense_Mutation_p.S409F|ZFP106_uc001zpv.2_Missense_Mutation_p.S409F|ZFP106_uc001zpx.2_Missense_Mutation_p.S452F NM_022473 NP_071918 Q9H2Y7 ZF106_HUMAN zinc finger protein 106 homolog 1224 nucleolus zinc ion binding central_nervous_system(2)|ovary(1) 3 all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.6e-07) TAATTCCTTGGACACATTGCA 0.443 15 44 --- --- --- --- PASS ZFP106 64397 broad.mit.edu 37 15 42743038 42743038 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:42743038G>A uc001zpw.2 - 2 1698 c.1363C>T c.(1363-1365)CTT>TTT p.L455F ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.L238F|ZFP106_uc001zpy.1_Missense_Mutation_p.L478F NM_022473 NP_071918 Q9H2Y7 ZF106_HUMAN zinc finger protein 106 homolog 455 nucleolus zinc ion binding central_nervous_system(2)|ovary(1) 3 all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.6e-07) GGACATGGAAGGAGTGGGGAT 0.418 38 67 --- --- --- --- PASS TGM7 116179 broad.mit.edu 37 15 43594442 43594442 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:43594442G>A uc001zrf.1 - 1 12 c.7C>T c.(7-9)CAG>TAG p.Q3* NM_052955 NP_443187 Q96PF1 TGM7_HUMAN transglutaminase 7 3 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2) 2 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) TACTCACCCTGATCCATCTCC 0.507 17 34 --- --- --- --- PASS MAP1A 4130 broad.mit.edu 37 15 43817847 43817847 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:43817847G>A uc001zrt.2 + 4 4643 c.4176G>A c.(4174-4176)GAG>GAA p.E1392E NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 1392 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) AGAAAGATGAGGCTCTGCATG 0.453 36 68 --- --- --- --- PASS STRC 161497 broad.mit.edu 37 15 43895470 43895470 + Silent SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:43895470T>C uc001zsf.2 - 23 4593 c.4515A>G c.(4513-4515)GAA>GAG p.E1505E STRC_uc010bdl.2_Silent_p.E732E|STRC_uc001zse.2_Silent_p.E23E NM_153700 NP_714544 Q7RTU9 STRC_HUMAN stereocilin precursor 1505 sensory perception of sound cell surface 0 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) CTGCCCGCAGTTCCTCAGGCC 0.542 7 44 --- --- --- --- PASS SPG11 80208 broad.mit.edu 37 15 44856758 44856758 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:44856758C>T uc001ztx.2 - 39 7169 c.7138G>A c.(7138-7140)GAG>AAG p.E2380K SPG11_uc010bdw.2_Missense_Mutation_p.E510K|SPG11_uc010ueh.1_Missense_Mutation_p.E2267K|SPG11_uc010uei.1_Intron NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 2380 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TTGGAAATCTCTTCAAATATA 0.338 16 35 --- --- --- --- PASS SPG11 80208 broad.mit.edu 37 15 44892803 44892803 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:44892803G>A uc001ztx.2 - 21 3579 c.3548C>T c.(3547-3549)TCT>TTT p.S1183F SPG11_uc010ueh.1_Missense_Mutation_p.S1183F|SPG11_uc010uei.1_Missense_Mutation_p.S1183F|SPG11_uc001zty.1_5'UTR NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 1183 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) GTCAGGGCTAGAGAAATGTGG 0.358 28 48 --- --- --- --- PASS TRIM69 140691 broad.mit.edu 37 15 45052027 45052027 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:45052027C>T uc001zuf.2 + 7 1813 c.918C>T c.(916-918)ATC>ATT p.I306I TRIM69_uc001zui.1_Silent_p.I102I|TRIM69_uc010bdy.1_Silent_p.I85I|TRIM69_uc001zug.1_Silent_p.I306I|TRIM69_uc001zuh.1_Silent_p.I147I NM_182985 NP_892030 Q86WT6 TRI69_HUMAN tripartite motif-containing 69 isoform a 306 B30.2/SPRY. apoptosis nuclear speck zinc ion binding 0 all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141) AAGGTCCTATCCAGTACATGG 0.478 20 30 --- --- --- --- PASS SORD 6652 broad.mit.edu 37 15 45332620 45332620 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:45332620C>T uc001zul.3 + 2 222 c.81C>T c.(79-81)ATC>ATT p.I27I SORD_uc010uel.1_RNA|SORD_uc001zum.3_Silent_p.I27I|SORD_uc010bdz.2_5'UTR NM_003104 NP_003095 Q00796 DHSO_HUMAN sorbitol dehydrogenase 27 fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding 0 all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122) all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706) NADH(DB00157) ACTATCCTATCCCTGAACCAG 0.323 6 17 --- --- --- --- PASS SORD 6652 broad.mit.edu 37 15 45353282 45353282 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:45353282G>A uc001zul.3 + 4 424 c.283G>A c.(283-285)GAG>AAG p.E95K SORD_uc010uel.1_Intron|SORD_uc001zum.3_Missense_Mutation_p.E95K|SORD_uc010bdz.2_Missense_Mutation_p.E16K NM_003104 NP_003095 Q00796 DHSO_HUMAN sorbitol dehydrogenase 95 fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding 0 all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122) all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706) NADH(DB00157) TGTTGCCATCGAGCCTGGTGC 0.537 16 32 --- --- --- --- PASS SEMA6D 80031 broad.mit.edu 37 15 48063453 48063453 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:48063453G>A uc010bek.2 + 19 3053 c.2693G>A c.(2692-2694)GGA>GAA p.G898E SEMA6D_uc001zvw.2_Missense_Mutation_p.G836E|SEMA6D_uc001zvy.2_Missense_Mutation_p.G898E|SEMA6D_uc001zvz.2_Missense_Mutation_p.G842E|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.G836E|SEMA6D_uc001zwc.2_Missense_Mutation_p.G823E NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 898 Cytoplasmic (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) GCCATCATGGGAGACATCCAG 0.493 41 70 --- --- --- --- PASS SLC24A5 283652 broad.mit.edu 37 15 48426492 48426492 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:48426492C>T uc001zwe.2 + 3 412 c.339C>T c.(337-339)TTC>TTT p.F113F SLC24A5_uc010bel.2_Silent_p.F53F NM_205850 NP_995322 Q71RS6 NCKX5_HUMAN solute carrier family 24, member 5 precursor 113 Helical; Name=2; (Potential). response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity 0 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) GCACAACTTTCATGGCAGCGG 0.373 13 51 --- --- --- --- PASS MYEF2 50804 broad.mit.edu 37 15 48458162 48458162 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:48458162C>T uc001zwi.3 - 5 617 c.493G>A c.(493-495)GAT>AAT p.D165N MYEF2_uc001zwj.3_Missense_Mutation_p.D165N|MYEF2_uc001zwl.2_Missense_Mutation_p.D5N NM_016132 NP_057216 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 165 RRM 1. transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding p.D165H(1) lung(2)|ovary(1) 3 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) CCACTAAGATCATATTTGTTC 0.279 18 33 --- --- --- --- PASS FBN1 2200 broad.mit.edu 37 15 48787353 48787353 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:48787353C>A uc001zwx.1 - 22 2972 c.2644G>T c.(2644-2646)GCG>TCG p.A882S NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 882 TB 4. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CTTCCCCACGCAGCACCGAGG 0.527 12 17 --- --- --- --- PASS FBN1 2200 broad.mit.edu 37 15 48903022 48903022 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:48903022G>A uc001zwx.1 - 4 577 c.249C>T c.(247-249)CCC>CCT p.P83P NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 83 EGF-like 1. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GCCGGCAAATGGCTGTGAATA 0.413 5 21 --- --- --- --- PASS FGF7 2252 broad.mit.edu 37 15 49716680 49716680 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:49716680G>A uc001zxn.2 + 2 715 c.186G>A c.(184-186)GGG>GGA p.G62G C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.2_Intron NM_002009 NP_002000 P21781 FGF7_HUMAN fibroblast growth factor 7 precursor 62 actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth chemoattractant activity|growth factor activity 0 all_lung(180;0.00391) all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05) Palifermin(DB00039) TGGAAGGAGGGGATATAAGAG 0.428 15 45 --- --- --- --- PASS C15orf33 196951 broad.mit.edu 37 15 49882084 49882084 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:49882084G>A uc001zxl.2 - 4 520 c.226C>T c.(226-228)CGA>TGA p.R76* C15orf33_uc001zxm.2_Nonsense_Mutation_p.R76* NM_152647 NP_689860 Q96M60 CO033_HUMAN hypothetical protein LOC196951 76 ovary(1) 1 all_lung(180;0.00187) all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124) TCAAATATTCGAGGAACATTT 0.299 5 23 --- --- --- --- PASS USP8 9101 broad.mit.edu 37 15 50769124 50769124 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:50769124C>T uc001zym.3 + 10 1428 c.928C>T c.(928-930)CAG>TAG p.Q310* USP8_uc001zyk.1_Silent_p.P9P|USP8_uc001zyl.3_Nonsense_Mutation_p.Q310*|USP8_uc001zyn.3_Nonsense_Mutation_p.Q310*|USP8_uc010ufh.1_Nonsense_Mutation_p.Q233*|USP8_uc010bev.1_Intron NM_001128611 NP_001122083 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 310 Rhodanese. cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1)|central_nervous_system(1) 2 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) TTGTTATCCCCAGTATACAAC 0.393 29 42 --- --- --- --- PASS GLDN 342035 broad.mit.edu 37 15 51687050 51687050 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:51687050G>A uc002aba.2 + 5 729 c.560G>A c.(559-561)GGA>GAA p.G187E GLDN_uc002abb.2_Missense_Mutation_p.G63E NM_181789 NP_861454 Q6ZMI3 GLDN_HUMAN gliomedin 187 Extracellular (Potential).|Collagen-like 1. cell differentiation|nervous system development collagen|integral to membrane|plasma membrane ovary(2) 2 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) GGAGCTGCAGGAAATCCAGGG 0.488 5 19 --- --- --- --- PASS MYO5C 55930 broad.mit.edu 37 15 52497304 52497304 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:52497304G>A uc010bff.2 - 38 4715 c.4578C>T c.(4576-4578)TCC>TCT p.S1526S MYO5C_uc010uga.1_RNA|uc002abv.2_RNA NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN myosin VC 1526 Dilute. myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2) 14 all cancers(107;0.0137) GCTTCAGGCCGGAAATGCCCT 0.597 15 31 --- --- --- --- PASS MYO5A 4644 broad.mit.edu 37 15 52700311 52700311 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:52700311G>A uc002aby.2 - 7 1027 c.783C>T c.(781-783)ATC>ATT p.I261I MYO5A_uc002abx.3_Silent_p.I261I|MYO5A_uc010uge.1_Silent_p.I130I NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 261 Myosin head-like. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|central_nervous_system(1) 4 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) GCTGATAGAAGATATGATAGT 0.299 19 43 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54305353 54305353 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:54305353G>A uc002ack.2 + 1 253 c.253G>A c.(253-255)GAG>AAG p.E85K NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 85 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GGCCAGTAAAGAGTTTTCCCT 0.403 16 30 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54307087 54307087 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:54307087G>A uc002ack.2 + 1 1987 c.1987G>A c.(1987-1989)GGA>AGA p.G663R NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 663 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ATGGAATCAAGGAGCTGATTT 0.418 31 41 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54307123 54307123 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:54307123G>A uc002ack.2 + 1 2023 c.2023G>A c.(2023-2025)GGT>AGT p.G675S NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 675 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CACCCAGGAAGGTTTTGATTA 0.393 15 49 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54630615 54630615 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:54630615G>A uc002ack.2 + 15 4641 c.4641G>A c.(4639-4641)AGG>AGA p.R1547R UNC13C_uc002acl.2_Silent_p.R377R NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1547 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ACTGTGTAAGGGCTTGCCTGG 0.423 36 75 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54914535 54914535 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:54914535C>T uc002ack.2 + 29 6117 c.6117C>T c.(6115-6117)TCC>TCT p.S2039S UNC13C_uc002acm.2_5'UTR NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 2039 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GTCGTTCCTCCAAAGATGCCG 0.408 19 56 --- --- --- --- PASS ZNF280D 54816 broad.mit.edu 37 15 56958614 56958614 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:56958614G>T uc002adu.2 - 16 2190 c.1973C>A c.(1972-1974)GCC>GAC p.A658D ZNF280D_uc002adv.2_Missense_Mutation_p.A645D|ZNF280D_uc010bfq.2_Missense_Mutation_p.A658D|ZNF280D_uc002adw.1_Missense_Mutation_p.A686D|ZNF280D_uc010bfr.1_RNA|ZNF280D_uc010bfp.2_RNA NM_017661 NP_060131 Q6N043 Z280D_HUMAN suppressor of hairy wing homolog 4 isoform 1 658 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) ATTTACATAGGCTTTGCTACA 0.323 4 51 --- --- --- --- PASS CGNL1 84952 broad.mit.edu 37 15 57730805 57730805 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:57730805C>T uc002aeg.2 + 2 684 c.608C>T c.(607-609)CCC>CTC p.P203L CGNL1_uc010bfw.2_Missense_Mutation_p.P203L NM_032866 NP_116255 Q0VF96 CGNL1_HUMAN cingulin-like 1 203 Head. myosin complex|tight junction motor activity skin(6)|ovary(4)|central_nervous_system(1) 11 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) CCTACCAGTCCCTCCTTGGAA 0.478 49 115 --- --- --- --- PASS AQP9 366 broad.mit.edu 37 15 58467217 58467217 + Silent SNP G A A rs140673133 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:58467217G>A uc002aez.2 + 4 834 c.477G>A c.(475-477)GCG>GCA p.A159A ALDH1A2_uc010ugw.1_Intron|AQP9_uc010ugx.1_Silent_p.A94A NM_020980 NP_066190 O43315 AQP9_HUMAN aquaporin 9 159 Helical; (Potential). cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity ovary(1) 1 GBM - Glioblastoma multiforme(80;0.16) TATCTCTGGCGAACGCATTTG 0.418 13 38 --- --- --- --- PASS RNF111 54778 broad.mit.edu 37 15 59373363 59373363 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:59373363C>T uc002afv.2 + 8 2456 c.2177C>T c.(2176-2178)CCT>CTT p.P726L RNF111_uc002afs.2_Missense_Mutation_p.P726L|RNF111_uc002aft.2_Missense_Mutation_p.P726L|RNF111_uc002afu.2_Missense_Mutation_p.P725L|RNF111_uc002afw.2_Missense_Mutation_p.P726L|RNF111_uc002afx.2_Missense_Mutation_p.P252L NM_017610 NP_060080 Q6ZNA4 RN111_HUMAN ring finger protein 111 726 Pro-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 all cancers(107;0.194) CATCTTCCTCCTACACACCAG 0.507 17 37 --- --- --- --- PASS LDHAL6B 92483 broad.mit.edu 37 15 59499206 59499206 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:59499206T>A uc002agb.2 + 1 165 c.67T>A c.(67-69)TGC>AGC p.C23S MYO1E_uc002aga.2_Intron NM_033195 NP_149972 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 23 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding 0 NADH(DB00157) GAATTTCCTATGCCTGGGGAT 0.597 6 17 --- --- --- --- PASS VPS13C 54832 broad.mit.edu 37 15 62255038 62255038 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:62255038G>A uc002agz.2 - 33 3419 c.3345C>T c.(3343-3345)TCC>TCT p.S1115S VPS13C_uc002aha.2_Silent_p.S1072S|VPS13C_uc002ahb.1_Silent_p.S1115S|VPS13C_uc002ahc.1_Silent_p.S1072S NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 1115 protein localization ovary(2) 2 GGAGAGAAAGGGAGGAATCCA 0.338 10 23 --- --- --- --- PASS VPS13C 54832 broad.mit.edu 37 15 62255039 62255039 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:62255039G>A uc002agz.2 - 33 3418 c.3344C>T c.(3343-3345)TCC>TTC p.S1115F VPS13C_uc002aha.2_Missense_Mutation_p.S1072F|VPS13C_uc002ahb.1_Missense_Mutation_p.S1115F|VPS13C_uc002ahc.1_Missense_Mutation_p.S1072F NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 1115 protein localization ovary(2) 2 GAGAGAAAGGGAGGAATCCAG 0.338 10 23 --- --- --- --- PASS VPS13C 54832 broad.mit.edu 37 15 62266527 62266527 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:62266527G>A uc002agz.2 - 25 2572 c.2498C>T c.(2497-2499)CCT>CTT p.P833L VPS13C_uc002aha.2_Missense_Mutation_p.P790L|VPS13C_uc002ahb.1_Missense_Mutation_p.P833L|VPS13C_uc002ahc.1_Missense_Mutation_p.P790L NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 833 protein localization ovary(2) 2 CTGTGGCAAAGGTATACTGTT 0.343 17 36 --- --- --- --- PASS TLN2 83660 broad.mit.edu 37 15 63044536 63044536 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:63044536G>A uc002alb.3 + 32 4242 c.4242G>A c.(4240-4242)CAG>CAA p.Q1414Q TLN2_uc002alc.3_5'UTR NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 1414 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 GGATTTCACAGAATGCCAAGA 0.547 25 69 --- --- --- --- PASS HERC1 8925 broad.mit.edu 37 15 63958598 63958598 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:63958598C>A uc002amp.2 - 41 8428 c.8280G>T c.(8278-8280)ATG>ATT p.M2760I NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 2760 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 GAGAGAACCCCATTTCCAGCA 0.423 5 84 --- --- --- --- PASS FAM96A 84191 broad.mit.edu 37 15 64365189 64365189 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:64365189C>A uc002amt.1 - 5 664 c.424G>T c.(424-426)GCA>TCA p.A142S FAM96A_uc002amu.1_3'UTR NM_032231 NP_115607 Q9H5X1 FA96A_HUMAN family with sequence similarity 96, member A 142 chromosome segregation 0 TTTTCCATTGCAGCTGCCACT 0.408 8 36 --- --- --- --- PASS CSNK1G1 53944 broad.mit.edu 37 15 64497066 64497066 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:64497066G>A uc002anf.2 - 8 1328 c.848C>T c.(847-849)CCA>CTA p.P283L CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Missense_Mutation_p.P283L|CSNK1G1_uc002anh.1_Missense_Mutation_p.P283L|CSNK1G1_uc002anj.2_Missense_Mutation_p.P265L NM_022048 NP_071331 Q9HCP0 KC1G1_HUMAN casein kinase 1, gamma 1 283 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity 0 CATCCCACCTGGAAAGTTCTC 0.408 8 29 --- --- --- --- PASS PIF1 80119 broad.mit.edu 37 15 65110521 65110521 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:65110521G>A uc002ant.2 - 10 1529 c.1463C>T c.(1462-1464)TCG>TTG p.S488L PIF1_uc002anr.2_Missense_Mutation_p.S36L|PIF1_uc002ans.2_Missense_Mutation_p.S179L|PIF1_uc010uiq.1_Missense_Mutation_p.S488L NM_025049 NP_079325 Q9H611 PIF1_HUMAN DNA helicase homolog PIF1 488 Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity. negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication nuclear chromosome, telomeric region ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding 0 CCGAGACACCGATAAGTTTTT 0.547 8 23 --- --- --- --- PASS PLEKHO2 80301 broad.mit.edu 37 15 65157114 65157114 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:65157114C>T uc002anv.2 + 6 634 c.500C>T c.(499-501)TCT>TTT p.S167F PLEKHO2_uc010bgz.2_Intron|PLEKHO2_uc002anw.2_Missense_Mutation_p.S117F NM_025201 NP_079477 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O 167 ovary(1)|lung(1) 2 AGTGCAGCTTCTGACGGTCTT 0.582 15 60 --- --- --- --- PASS CLPX 10845 broad.mit.edu 37 15 65458972 65458972 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:65458972C>T uc002aom.2 - 4 582 c.510G>A c.(508-510)AAG>AAA p.K170K CLPX_uc010uiu.1_RNA|CLPX_uc010bhg.1_Silent_p.K170K NM_006660 NP_006651 O76031 CLPX_HUMAN ClpX caseinolytic protease X homolog precursor 170 protein folding|proteolysis involved in cellular protein catabolic process mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding 0 CTTATACCTTCTTAGGGGGAG 0.373 18 66 --- --- --- --- PASS IGDCC3 9543 broad.mit.edu 37 15 65621935 65621935 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:65621935C>T uc002aos.2 - 13 2250 c.1998G>A c.(1996-1998)AGG>AGA p.R666R IGDCC3_uc002aor.1_5'UTR NM_004884 NP_004875 Q8IVU1 IGDC3_HUMAN putative neuronal cell adhesion molecule 666 Cytoplasmic (Potential). ovary(3) 3 ACAGGAGGACCCTAAGGGTTA 0.597 14 19 --- --- --- --- PASS IGDCC4 57722 broad.mit.edu 37 15 65680880 65680880 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:65680880G>A uc002aou.1 - 16 2962 c.2752C>T c.(2752-2754)CGG>TGG p.R918W IGDCC4_uc002aot.1_Missense_Mutation_p.R506W NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 918 Extracellular (Potential).|Fibronectin type-III 5. integral to membrane|plasma membrane ovary(1)|pancreas(1)|skin(1) 3 AAGAAGTACCGAGTGTCGCTC 0.612 31 68 --- --- --- --- PASS MEGF11 84465 broad.mit.edu 37 15 66223281 66223281 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:66223281C>T uc002apm.2 - 11 1429 c.1288G>A c.(1288-1290)GGA>AGA p.G430R MEGF11_uc002apl.2_Missense_Mutation_p.G355R|MEGF11_uc002apn.1_Missense_Mutation_p.G430R NM_032445 NP_115821 A6BM72 MEG11_HUMAN multiple EGF-like-domains 11 precursor 430 EGF-like 7. basolateral plasma membrane|integral to membrane pancreas(1) 1 CAGACCTCTCCCTGGAAAGGG 0.428 9 14 --- --- --- --- PASS MEGF11 84465 broad.mit.edu 37 15 66416238 66416238 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:66416238G>A uc002apm.2 - 3 340 c.199C>T c.(199-201)CGG>TGG p.R67W MEGF11_uc002apl.2_Silent_p.T25T|MEGF11_uc002apn.1_Missense_Mutation_p.R67W NM_032445 NP_115821 A6BM72 MEG11_HUMAN multiple EGF-like-domains 11 precursor 67 EMI. basolateral plasma membrane|integral to membrane pancreas(1) 1 GGTACTCACCGGTGCCTGGTG 0.527 24 37 --- --- --- --- PASS LCTL 197021 broad.mit.edu 37 15 66845452 66845452 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:66845452G>A uc002aqc.2 - 9 1199 c.1067C>T c.(1066-1068)TCC>TTC p.S356F LCTL_uc002aqd.3_Missense_Mutation_p.S183F|LCTL_uc010bhw.2_Missense_Mutation_p.S54F NM_207338 NP_997221 Q6UWM7 LCTL_HUMAN lactase-like precursor 356 Extracellular (Potential). carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(2) 2 CCCCTGGCGGGAGGGGTAGTT 0.502 24 58 --- --- --- --- PASS ITGA11 22801 broad.mit.edu 37 15 68617468 68617468 + Splice_Site SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:68617468C>T uc002ari.2 - 18 2409 c.2322_splice c.e18+1 p.S774_splice ITGA11_uc010bib.2_Splice_Site_p.S774_splice NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN integrin, alpha 11 precursor cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity kidney(2)|pancreas(1) 3 Tirofiban(DB00775) CCGAGATGTACCGAGACTCTG 0.622 11 16 --- --- --- --- PASS NOX5 79400 broad.mit.edu 37 15 69339854 69339854 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:69339854C>T uc002ars.1 + 12 1814 c.1794C>T c.(1792-1794)TCC>TCT p.S598S NOX5_uc002arp.1_Silent_p.S580S|NOX5_uc002arq.1_Silent_p.S552S|NOX5_uc010bid.1_Silent_p.S563S|NOX5_uc002arr.1_Silent_p.S570S|NOX5_uc010bie.1_Silent_p.S398S|NOX5_uc010bif.1_RNA NM_024505 NP_078781 Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 598 Helical; (Potential). angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(1)|pancreas(1) 2 CCTTTGCTTCCATTCTGCAGA 0.527 12 18 --- --- --- --- PASS NOX5 79400 broad.mit.edu 37 15 69341321 69341321 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:69341321G>A uc002ars.1 + 14 1942 c.1922G>A c.(1921-1923)AGA>AAA p.R641K NOX5_uc002arp.1_Missense_Mutation_p.R623K|NOX5_uc002arq.1_Missense_Mutation_p.R595K|NOX5_uc010bid.1_Missense_Mutation_p.R606K|NOX5_uc002arr.1_Missense_Mutation_p.R613K|NOX5_uc010bie.1_Missense_Mutation_p.R441K|NOX5_uc010bif.1_RNA NM_024505 NP_078781 Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 641 Extracellular (Potential). angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity p.D641H(1) breast(1)|pancreas(1) 2 TGGATCAACAGAGACCAGCGG 0.502 6 18 --- --- --- --- PASS TMEM202 338949 broad.mit.edu 37 15 72700100 72700100 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:72700100C>T uc002auq.2 + 5 688 c.688C>T c.(688-690)CCA>TCA p.P230S TMEM202_uc002aur.2_RNA NM_001080462 NP_001073931 A6NGA9 TM202_HUMAN transmembrane protein 202 230 integral to membrane central_nervous_system(1)|skin(1) 2 CACTGTGATTCCAACAGAGAG 0.478 16 38 --- --- --- --- PASS GOLGA6B 55889 broad.mit.edu 37 15 72953606 72953606 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:72953606C>T uc010uks.1 + 8 607 c.566C>T c.(565-567)TCC>TTC p.S189F NM_018652 NP_061122 A6NDN3 GOG6B_HUMAN golgi autoantigen, golgin subfamily a, 6B 189 Potential. 0 ACCATCCAGTCCTCGAGCTGC 0.557 14 30 --- --- --- --- PASS C15orf59 388135 broad.mit.edu 37 15 74032779 74032779 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:74032779G>A uc002avy.2 - 2 706 c.361C>T c.(361-363)CCC>TCC p.P121S NM_001039614 NP_001034703 Q2T9L4 CO059_HUMAN hypothetical protein LOC388135 121 pancreas(1) 1 GAGTCCGAGGGGGTAGAGACG 0.637 20 60 --- --- --- --- PASS GOLGA6A 342096 broad.mit.edu 37 15 74372960 74372960 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:74372960C>T uc002axa.1 - 2 242 c.201G>A c.(199-201)GGG>GGA p.G67G NM_001038640 NP_001033729 Q9NYA3 GOG6A_HUMAN golgi autoantigen, golgin subfamily a, 6 67 Potential. 0 GACTCACATCCCCAGGTGAGT 0.418 8 89 --- --- --- --- PASS ISLR2 57611 broad.mit.edu 37 15 74426484 74426484 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:74426484C>T uc002axd.2 + 4 2158 c.1389C>T c.(1387-1389)GAC>GAT p.D463D ISLR2_uc002axe.2_Silent_p.D463D|ISLR2_uc010bjg.2_Silent_p.D463D|ISLR2_uc010bjf.2_Silent_p.D463D NM_001130136 NP_001123608 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing 463 Extracellular (Potential). positive regulation of axon extension cell surface|integral to membrane|plasma membrane 0 GCAACGGGGACCCCTCTCGGT 0.662 4 11 --- --- --- --- PASS ISLR2 57611 broad.mit.edu 37 15 74426485 74426485 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:74426485C>T uc002axd.2 + 4 2159 c.1390C>T c.(1390-1392)CCC>TCC p.P464S ISLR2_uc002axe.2_Missense_Mutation_p.P464S|ISLR2_uc010bjg.2_Missense_Mutation_p.P464S|ISLR2_uc010bjf.2_Missense_Mutation_p.P464S NM_001130136 NP_001123608 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing 464 Extracellular (Potential). positive regulation of axon extension cell surface|integral to membrane|plasma membrane 0 CAACGGGGACCCCTCTCGGTA 0.662 4 11 --- --- --- --- PASS CCDC33 80125 broad.mit.edu 37 15 74564127 74564127 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:74564127G>A uc002axo.2 + 6 1024 c.630G>A c.(628-630)AAG>AAA p.K210K CCDC33_uc002axp.2_Silent_p.K32K NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 isoform 1 413 protein binding ovary(3)|skin(2) 5 CCAACTACAAGGAATTTAAGT 0.597 7 9 --- --- --- --- PASS SEMA7A 8482 broad.mit.edu 37 15 74704319 74704319 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:74704319C>T uc002axv.2 - 11 1369 c.1329G>A c.(1327-1329)GGG>GGA p.G443G SEMA7A_uc010ulk.1_Silent_p.G278G|SEMA7A_uc010ull.1_Silent_p.G429G NM_003612 NP_003603 O75326 SEM7A_HUMAN semaphorin 7A isoform 1 preproprotein 443 Sema. axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity breast(1)|central_nervous_system(1) 2 GCTCCTGCTCCCCCGGTTCCA 0.632 8 31 --- --- --- --- PASS CYP1A1 1543 broad.mit.edu 37 15 75013790 75013790 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:75013790T>C uc002ayp.3 - 4 1129 c.1007A>G c.(1006-1008)AAC>AGC p.N336S CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Missense_Mutation_p.N72S|CYP1A1_uc010bjx.2_Missense_Mutation_p.N72S|CYP1A1_uc002ayq.3_Missense_Mutation_p.N336S|CYP1A1_uc010bjy.2_Missense_Mutation_p.N336S|CYP1A1_uc010bjz.1_Missense_Mutation_p.N72S NM_000499 NP_000490 P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, 336 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity ovary(2)|breast(2)|pancreas(1) 5 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) TACCCTGGGGTTCATCACCAA 0.552 Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia 19 33 --- --- --- --- PASS CYP1A2 1544 broad.mit.edu 37 15 75042389 75042389 + Missense_Mutation SNP G A A rs34067076 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:75042389G>A uc002ayr.1 + 2 374 c.310G>A c.(310-312)GAT>AAT p.D104N NM_000761 NP_000752 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, 104 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding ovary(3)|breast(1) 4 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) GCAGGGCGACGATTTCAAGGG 0.672 6 20 --- --- --- --- PASS CSK 1445 broad.mit.edu 37 15 75094051 75094051 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:75094051C>T uc010bkb.1 + 12 1086 c.903C>T c.(901-903)GCC>GCT p.A301A CSK_uc002ays.2_Silent_p.A301A|CSK_uc010bkc.1_Silent_p.A110A NM_001127190 NP_001120662 P41240 CSK_HUMAN c-src tyrosine kinase 301 Protein kinase. blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway centrosome|cytosol|Golgi apparatus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding lung(2)|central_nervous_system(1) 3 TCTGCGAGGCCATGGAATACC 0.597 11 19 --- --- --- --- PASS LMAN1L 79748 broad.mit.edu 37 15 75112435 75112435 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:75112435C>T uc002ayt.1 + 7 771 c.769C>T c.(769-771)CCA>TCA p.P257S LMAN1L_uc010bkd.2_3'UTR|LMAN1L_uc010ulo.1_3'UTR|LMAN1L_uc010bke.1_Intron NM_021819 NP_068591 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like precursor 257 Lumenal (Potential). ER-Golgi intermediate compartment membrane|integral to membrane sugar binding 0 TGAGCCCAGCCCAGAGGTGAT 0.602 10 28 --- --- --- --- PASS FBXO22 26263 broad.mit.edu 37 15 76206519 76206519 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:76206519C>T uc002bbk.2 + 4 541 c.436C>T c.(436-438)CTT>TTT p.L146F FBXO22_uc002bbj.1_Missense_Mutation_p.L146F|FBXO22_uc002bbl.2_Missense_Mutation_p.L42F NM_147188 NP_671717 Q8NEZ5 FBX22_HUMAN F-box only protein 22 isoform a 146 ubiquitin-dependent protein catabolic process ubiquitin-protein ligase activity 0 ATGCCAAGTCCTTGGGATTGT 0.383 12 22 --- --- --- --- PASS SCAPER 49855 broad.mit.edu 37 15 77025689 77025689 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:77025689G>A uc002bby.2 - 15 1962 c.1903C>T c.(1903-1905)CAG>TAG p.Q635* SCAPER_uc002bbx.2_Nonsense_Mutation_p.Q389*|SCAPER_uc002bbz.1_Nonsense_Mutation_p.Q506*|SCAPER_uc002bca.1_Nonsense_Mutation_p.Q500*|SCAPER_uc002bcb.1_Nonsense_Mutation_p.Q641* NM_020843 NP_065894 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 634 Glu-rich. endoplasmic reticulum|nucleus zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 CGTTTATTCTGGGCTTCAAGG 0.343 7 31 --- --- --- --- PASS SCAPER 49855 broad.mit.edu 37 15 77025690 77025690 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:77025690G>A uc002bby.2 - 15 1961 c.1902C>T c.(1900-1902)GCC>GCT p.A634A SCAPER_uc002bbx.2_Silent_p.A388A|SCAPER_uc002bbz.1_Silent_p.A505A|SCAPER_uc002bca.1_Silent_p.A499A|SCAPER_uc002bcb.1_Silent_p.A640A NM_020843 NP_065894 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 633 Glu-rich. endoplasmic reticulum|nucleus zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 GTTTATTCTGGGCTTCAAGGG 0.343 7 31 --- --- --- --- PASS LINGO1 84894 broad.mit.edu 37 15 77907381 77907381 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:77907381G>A uc002bct.1 - 2 920 c.868C>T c.(868-870)CGC>TGC p.R290C LINGO1_uc002bcu.1_Missense_Mutation_p.R284C NM_032808 NP_116197 Q96FE5 LIGO1_HUMAN leucine-rich repeat neuronal 6A 290 Extracellular (Potential).|LRR 9. negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane ovary(1)|lung(1) 2 TTGAGGAAGCGGAGATAGACT 0.607 10 22 --- --- --- --- PASS ACSBG1 23205 broad.mit.edu 37 15 78471062 78471062 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:78471062C>T uc002bdh.2 - 11 1652 c.1596G>A c.(1594-1596)ATG>ATA p.M532I ACSBG1_uc010umw.1_Missense_Mutation_p.M528I|ACSBG1_uc010umx.1_Missense_Mutation_p.M290I NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN lipidosin 532 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity ovary(1) 1 TCTTGTCCTCCATGTTCAGGT 0.627 6 11 --- --- --- --- PASS ACSBG1 23205 broad.mit.edu 37 15 78471960 78471960 + Silent SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:78471960C>A uc002bdh.2 - 10 1472 c.1416G>T c.(1414-1416)GCG>GCT p.A472A ACSBG1_uc010umw.1_Silent_p.A468A|ACSBG1_uc010umx.1_Silent_p.A230A NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN lipidosin 472 ATP (By similarity). long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity ovary(1) 1 GGCCGTAGCCCGCATACAAGC 0.567 4 37 --- --- --- --- PASS ACSBG1 23205 broad.mit.edu 37 15 78471990 78471990 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:78471990G>A uc002bdh.2 - 10 1442 c.1386C>T c.(1384-1386)TTC>TTT p.F462F ACSBG1_uc010umw.1_Silent_p.F458F|ACSBG1_uc010umx.1_Silent_p.F220F NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN lipidosin 462 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity ovary(1) 1 GACCCAGGAAGAAGTGCTGTG 0.557 22 32 --- --- --- --- PASS ACSBG1 23205 broad.mit.edu 37 15 78500387 78500387 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:78500387G>A uc002bdh.2 - 2 245 c.189C>T c.(187-189)CTC>CTT p.L63L ACSBG1_uc010umw.1_Silent_p.L63L|ACSBG1_uc010umx.1_Intron|ACSBG1_uc010umy.1_Intron NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN lipidosin 63 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity ovary(1) 1 CTGGCACTGAGAGCTCGAGAG 0.577 4 13 --- --- --- --- PASS IREB2 3658 broad.mit.edu 37 15 78755400 78755400 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:78755400C>T uc002bdr.2 + 3 405 c.243C>T c.(241-243)TTC>TTT p.F81F IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.2_Silent_p.F81F NM_004136 NP_004127 P48200 IREB2_HUMAN iron-responsive element binding protein 2 81 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) TGCCCTTTTTCCCTGCCCGTG 0.358 30 50 --- --- --- --- PASS ADAMTS7 11173 broad.mit.edu 37 15 79063624 79063624 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:79063624G>A uc002bej.3 - 16 2609 c.2398C>T c.(2398-2400)CCT>TCT p.P800S ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_3'UTR NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 800 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 TGCACCCCAGGGTTGCTCTCC 0.642 3 6 --- --- --- --- PASS RASGRF1 5923 broad.mit.edu 37 15 79323819 79323819 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:79323819G>A uc002beq.2 - 8 1560 c.1185C>T c.(1183-1185)CTC>CTT p.L395L RASGRF1_uc002bep.2_Silent_p.L395L|RASGRF1_uc010blm.1_Silent_p.L317L|RASGRF1_uc002ber.3_Silent_p.L395L NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 395 DH. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 TGTGGGCCAGGAGCTCATGGA 0.622 6 13 --- --- --- --- PASS RASGRF1 5923 broad.mit.edu 37 15 79323849 79323849 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:79323849G>A uc002beq.2 - 8 1530 c.1155C>T c.(1153-1155)ATC>ATT p.I385I RASGRF1_uc002bep.2_Silent_p.I385I|RASGRF1_uc010blm.1_Silent_p.I307I|RASGRF1_uc002ber.3_Silent_p.I385I NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 385 DH. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 TGTACCTGGGGATCTGCGGGC 0.547 7 13 --- --- --- --- PASS KIAA1024 23251 broad.mit.edu 37 15 79749282 79749282 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:79749282C>T uc002bew.1 + 2 868 c.793C>T c.(793-795)CAC>TAC p.H265Y KIAA1024_uc010unk.1_Missense_Mutation_p.H265Y NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 265 integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 AGAGGATTTTCACAATTTGAT 0.498 14 55 --- --- --- --- PASS ZFAND6 54469 broad.mit.edu 37 15 80415061 80415061 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:80415061C>T uc002bfe.1 + 5 594 c.283C>T c.(283-285)CTT>TTT p.L95F ZFAND6_uc002bff.1_Missense_Mutation_p.L95F|ZFAND6_uc002bfg.1_Missense_Mutation_p.L83F|ZFAND6_uc002bfh.1_Missense_Mutation_p.L95F|ZFAND6_uc002bfi.1_Missense_Mutation_p.L95F NM_019006 NP_061879 Q6FIF0 ZFAN6_HUMAN zinc finger, AN1-type domain 6 95 Ser-rich. DNA binding|zinc ion binding 0 AAATCAGTCACTTTTATCAGA 0.353 22 44 --- --- --- --- PASS SLC28A1 9154 broad.mit.edu 37 15 85476451 85476451 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:85476451C>T uc002blg.2 + 13 1361 c.1159C>T c.(1159-1161)CCG>TCG p.P387S SLC28A1_uc010bnb.2_Missense_Mutation_p.P387S|SLC28A1_uc010upe.1_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.P387S|SLC28A1_uc010upg.1_Missense_Mutation_p.P387S NM_004213 NP_004204 O00337 S28A1_HUMAN solute carrier family 28, member 1 isoform 1 387 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(143;0.0587) GCTGGTCTACCCGGAGGTGGA 0.567 10 46 --- --- --- --- PASS SLC28A1 9154 broad.mit.edu 37 15 85476452 85476452 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:85476452C>T uc002blg.2 + 13 1362 c.1160C>T c.(1159-1161)CCG>CTG p.P387L SLC28A1_uc010bnb.2_Missense_Mutation_p.P387L|SLC28A1_uc010upe.1_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.P387L|SLC28A1_uc010upg.1_Missense_Mutation_p.P387L NM_004213 NP_004204 O00337 S28A1_HUMAN solute carrier family 28, member 1 isoform 1 387 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(143;0.0587) CTGGTCTACCCGGAGGTGGAG 0.572 12 46 --- --- --- --- PASS AKAP13 11214 broad.mit.edu 37 15 86198952 86198952 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:86198952C>T uc002blv.1 + 11 4849 c.4679C>T c.(4678-4680)CCC>CTC p.P1560L AKAP13_uc002blt.1_Missense_Mutation_p.P1560L|AKAP13_uc002blu.1_Missense_Mutation_p.P1560L|AKAP13_uc010bnf.1_Missense_Mutation_p.P200L|AKAP13_uc002blw.1_Missense_Mutation_p.P45L|AKAP13_uc010bne.1_Missense_Mutation_p.P213L NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 1560 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 TCTCTTTCTCCCTTCCGGAGG 0.572 11 30 --- --- --- --- PASS AGBL1 123624 broad.mit.edu 37 15 86697721 86697721 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:86697721C>T uc002blz.1 + 3 265 c.185C>T c.(184-186)GCC>GTC p.A62V NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 62 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 TTGATTCTGGCCAGGAAGAAC 0.468 5 14 --- --- --- --- PASS ACAN 176 broad.mit.edu 37 15 89388994 89388994 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:89388994G>A uc010upo.1 + 7 1684 c.1310G>A c.(1309-1311)GGA>GAA p.G437E ACAN_uc002bmx.2_Missense_Mutation_p.G437E|ACAN_uc010upp.1_Missense_Mutation_p.G437E|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 437 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AATGAGACTGGAGAGGCCACC 0.642 6 14 --- --- --- --- PASS POLG 5428 broad.mit.edu 37 15 89872200 89872200 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:89872200G>A uc002bns.3 - 4 1279 c.997C>T c.(997-999)CAG>TAG p.Q333* POLG_uc002bnr.3_Nonsense_Mutation_p.Q333* NM_002693 NP_002684 P54098 DPOG1_HUMAN DNA-directed DNA polymerase gamma 333 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding ovary(1)|lung(1) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) GCTTTCCTCTGGGACTTCTGG 0.637 DNA_polymerases_(catalytic_subunits) 14 30 --- --- --- --- PASS C15orf42 90381 broad.mit.edu 37 15 90126188 90126188 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:90126188C>T uc002boe.2 + 2 926 c.926C>T c.(925-927)CCT>CTT p.P309L NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 309 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) TTATTTCTCCCTGTTGAAGGT 0.338 13 33 --- --- --- --- PASS KIF7 374654 broad.mit.edu 37 15 90188364 90188364 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:90188364G>A uc002bof.2 - 10 2148 c.2071C>T c.(2071-2073)CGC>TGC p.R691C KIF7_uc010upw.1_Missense_Mutation_p.R177C NM_198525 NP_940927 Q2M1P5 KIF7_HUMAN kinesin family member 7 691 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding ovary(2)|lung(1) 3 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) GGGACCTGGCGGGCCTGAACT 0.632 8 16 --- --- --- --- PASS KIF7 374654 broad.mit.edu 37 15 90188365 90188365 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:90188365G>A uc002bof.2 - 10 2147 c.2070C>T c.(2068-2070)GCC>GCT p.A690A KIF7_uc010upw.1_Silent_p.A176A NM_198525 NP_940927 Q2M1P5 KIF7_HUMAN kinesin family member 7 690 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding ovary(2)|lung(1) 3 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) GGACCTGGCGGGCCTGAACTC 0.637 8 16 --- --- --- --- PASS IQGAP1 8826 broad.mit.edu 37 15 91025317 91025317 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:91025317C>T uc002bpl.1 + 27 3556 c.3455C>T c.(3454-3456)TCT>TTT p.S1152F NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1152 Ras-GAP.|C1. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) ATTGTCAGCTCTGTGGACAAA 0.517 OREG0023473 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 45 --- --- --- --- PASS FURIN 5045 broad.mit.edu 37 15 91424898 91424898 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:91424898C>T uc002bpu.1 + 16 2391 c.2175C>T c.(2173-2175)ATC>ATT p.I725I FES_uc010uqj.1_5'Flank|FES_uc010uqk.1_5'Flank|FES_uc002bpw.2_5'Flank|FES_uc002bpv.2_5'Flank NM_002569 NP_002560 P09958 FURIN_HUMAN furin preproprotein 725 Helical; (Potential). cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity central_nervous_system(4)|lung(2)|breast(1) 7 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GCGCCTTCATCGTGCTGGTCT 0.662 24 43 --- --- --- --- PASS MAN2A2 4122 broad.mit.edu 37 15 91447563 91447563 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:91447563C>T uc010bnz.2 + 2 241 c.126C>T c.(124-126)TTC>TTT p.F42F MAN2A2_uc010boa.2_Silent_p.F84F|MAN2A2_uc002bqc.2_Silent_p.F42F|MAN2A2_uc010uql.1_5'Flank|MAN2A2_uc010uqm.1_5'Flank NM_006122 NP_006113 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 42 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) GTGGGAACTTCCCCCGGGTGA 0.607 18 42 --- --- --- --- PASS MAN2A2 4122 broad.mit.edu 37 15 91447564 91447564 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:91447564C>T uc010bnz.2 + 2 242 c.127C>T c.(127-129)CCC>TCC p.P43S MAN2A2_uc010boa.2_Missense_Mutation_p.P85S|MAN2A2_uc002bqc.2_Missense_Mutation_p.P43S|MAN2A2_uc010uql.1_5'Flank|MAN2A2_uc010uqm.1_5'Flank NM_006122 NP_006113 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 43 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) TGGGAACTTCCCCCGGGTGAG 0.612 18 42 --- --- --- --- PASS MAN2A2 4122 broad.mit.edu 37 15 91447565 91447565 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:91447565C>T uc010bnz.2 + 2 243 c.128C>T c.(127-129)CCC>CTC p.P43L MAN2A2_uc010boa.2_Missense_Mutation_p.P85L|MAN2A2_uc002bqc.2_Missense_Mutation_p.P43L|MAN2A2_uc010uql.1_5'Flank|MAN2A2_uc010uqm.1_5'Flank NM_006122 NP_006113 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 43 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) GGGAACTTCCCCCGGGTGAGT 0.607 18 39 --- --- --- --- PASS MAN2A2 4122 broad.mit.edu 37 15 91448890 91448890 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:91448890C>T uc010bnz.2 + 4 587 c.472C>T c.(472-474)CCG>TCG p.P158S MAN2A2_uc010boa.2_Missense_Mutation_p.P200S|MAN2A2_uc002bqc.2_Missense_Mutation_p.P158S|MAN2A2_uc010uql.1_5'Flank|MAN2A2_uc010uqm.1_5'Flank NM_006122 NP_006113 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 158 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CTCCTACGACCCGCACGACTG 0.602 9 19 --- --- --- --- PASS MAN2A2 4122 broad.mit.edu 37 15 91450582 91450582 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:91450582C>T uc010bnz.2 + 8 1168 c.1053C>T c.(1051-1053)TTC>TTT p.F351F MAN2A2_uc010boa.2_Silent_p.F393F|MAN2A2_uc002bqc.2_Silent_p.F351F|MAN2A2_uc010uql.1_Silent_p.F55F|MAN2A2_uc010uqm.1_5'UTR NM_006122 NP_006113 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 351 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) TGATGCCCTTCTACAGCTATG 0.582 25 44 --- --- --- --- PASS CHD2 1106 broad.mit.edu 37 15 93467575 93467575 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:93467575G>T uc002bsp.2 + 3 662 c.87G>T c.(85-87)TCG>TCT p.S29S CHD2_uc002bsm.1_Silent_p.S29S|CHD2_uc002bsn.2_Silent_p.S29S|CHD2_uc002bso.1_Silent_p.S29S|CHD2_uc010urb.1_Silent_p.S42S NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 29 Ser-rich. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AAGAAGCTTCGGGTTCAGACT 0.433 4 88 --- --- --- --- PASS SPATA8 145946 broad.mit.edu 37 15 97327464 97327464 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:97327464G>T uc002bue.2 + 2 381 c.171G>T c.(169-171)AAG>AAT p.K57N uc010urp.1_5'Flank|uc002bud.1_5'Flank NM_173499 NP_775770 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 57 ovary(1)|skin(1) 2 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) GAGGCCTCAAGGGCCCGGTGT 0.567 12 14 --- --- --- --- PASS SPATA8 145946 broad.mit.edu 37 15 97328247 97328247 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:97328247G>A uc002bue.2 + 3 428 c.218G>A c.(217-219)AGG>AAG p.R73K uc010urp.1_5'Flank|uc002bud.1_5'Flank NM_173499 NP_775770 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 73 p.R73R(1) ovary(1)|skin(1) 2 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) TCTCACGGAAGGATCCAAAGG 0.458 17 52 --- --- --- --- PASS ARRDC4 91947 broad.mit.edu 37 15 98513180 98513180 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:98513180C>T uc010bom.2 + 6 1109 c.950C>T c.(949-951)CCA>CTA p.P317L ARRDC4_uc002bui.3_Missense_Mutation_p.P230L NM_183376 NP_899232 Q8NCT1 ARRD4_HUMAN arrestin domain containing 4 317 signal transduction 0 Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222) OV - Ovarian serous cystadenocarcinoma(32;0.0417) GGTACAATTCCATATAATGGT 0.408 7 30 --- --- --- --- PASS SYNM 23336 broad.mit.edu 37 15 99672261 99672261 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:99672261G>A uc002bup.2 + 6 3816 c.3696G>A c.(3694-3696)AAG>AAA p.K1232K SYNM_uc002buo.2_Intron|SYNM_uc002buq.2_Intron NM_145728 NP_663780 O15061 SYNEM_HUMAN desmuslin isoform A 1232 Tail.|Interaction with TLN1 and VCL. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding ovary(3)|central_nervous_system(1) 4 ATGCTGAAAAGGAGATTATTT 0.512 17 40 --- --- --- --- PASS SYNM 23336 broad.mit.edu 37 15 99672262 99672262 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:99672262G>A uc002bup.2 + 6 3817 c.3697G>A c.(3697-3699)GAG>AAG p.E1233K SYNM_uc002buo.2_Intron|SYNM_uc002buq.2_Intron NM_145728 NP_663780 O15061 SYNEM_HUMAN desmuslin isoform A 1233 Tail.|Interaction with TLN1 and VCL. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding ovary(3)|central_nervous_system(1) 4 TGCTGAAAAGGAGATTATTTT 0.507 16 41 --- --- --- --- PASS ADAMTS17 170691 broad.mit.edu 37 15 100589176 100589176 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:100589176G>A uc002bvv.1 - 18 2556 c.2477C>T c.(2476-2478)TCG>TTG p.S826L NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 826 TSP type-1 2. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) CCGTGTACACGAGACGATGGT 0.582 10 22 --- --- --- --- PASS ADAMTS17 170691 broad.mit.edu 37 15 100692938 100692938 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:100692938G>A uc002bvv.1 - 10 1431 c.1352C>T c.(1351-1353)ACG>ATG p.T451M ADAMTS17_uc002bvx.1_Missense_Mutation_p.T208M NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 451 Peptidase M12B. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) TCTGGGGTCCGTGACTAGCAA 0.493 9 20 --- --- --- --- PASS ADAMTS17 170691 broad.mit.edu 37 15 100821497 100821497 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:100821497G>A uc002bvv.1 - 4 805 c.726C>T c.(724-726)GCC>GCT p.A242A ADAMTS17_uc002bvx.1_5'UTR NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 242 Peptidase M12B. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) GCACCATGTCGGCGTCGGCCA 0.687 8 24 --- --- --- --- PASS ADAMTS17 170691 broad.mit.edu 37 15 100821498 100821498 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:100821498G>A uc002bvv.1 - 4 804 c.725C>T c.(724-726)GCC>GTC p.A242V ADAMTS17_uc002bvx.1_5'UTR NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 242 Peptidase M12B. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) CACCATGTCGGCGTCGGCCAC 0.687 7 24 --- --- --- --- PASS LRRK1 79705 broad.mit.edu 37 15 101528975 101528975 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:101528975C>T uc002bwr.2 + 5 889 c.570C>T c.(568-570)TTC>TTT p.F190F LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bwq.1_Silent_p.F190F NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 190 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AGAATGAGTTCCCTGTCATCG 0.612 16 20 --- --- --- --- PASS LRRK1 79705 broad.mit.edu 37 15 101565079 101565079 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:101565079C>T uc002bwr.2 + 16 2458 c.2139C>T c.(2137-2139)TTC>TTT p.F713F LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 713 Roc. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ACCAGTGCTTCTTCACGGACA 0.612 32 70 --- --- --- --- PASS PCSK6 5046 broad.mit.edu 37 15 101872087 101872087 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:101872087C>T uc002bwy.2 - 15 2322 c.2008G>A c.(2008-2010)GAA>AAA p.E670K PCSK6_uc010bpd.2_Missense_Mutation_p.E466K|PCSK6_uc010bpe.2_Missense_Mutation_p.E670K|PCSK6_uc002bxa.2_Missense_Mutation_p.E670K|PCSK6_uc002bxb.2_Missense_Mutation_p.E670K NM_002570 NP_002561 P29122 PCSK6_HUMAN paired basic amino acid cleaving system 4 670 glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity pancreas(2) 2 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TCAGGAACTTCCACCTGGGAG 0.557 8 9 --- --- --- --- PASS PCSK6 5046 broad.mit.edu 37 15 101872088 101872088 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:101872088C>T uc002bwy.2 - 15 2321 c.2007G>A c.(2005-2007)GTG>GTA p.V669V PCSK6_uc010bpd.2_Silent_p.V465V|PCSK6_uc010bpe.2_Silent_p.V669V|PCSK6_uc002bxa.2_Silent_p.V669V|PCSK6_uc002bxb.2_Silent_p.V669V NM_002570 NP_002561 P29122 PCSK6_HUMAN paired basic amino acid cleaving system 4 669 glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity pancreas(2) 2 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CAGGAACTTCCACCTGGGAGG 0.562 8 9 --- --- --- --- PASS PCSK6 5046 broad.mit.edu 37 15 101922317 101922317 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:101922317G>A uc002bwy.2 - 12 1826 c.1512C>T c.(1510-1512)GCC>GCT p.A504A PCSK6_uc010bpd.2_Intron|PCSK6_uc010bpe.2_Silent_p.A504A|PCSK6_uc002bxa.2_Silent_p.A504A|PCSK6_uc002bxb.2_Silent_p.A504A|PCSK6_uc002bxc.1_Silent_p.A504A|PCSK6_uc002bxd.1_Silent_p.A504A|PCSK6_uc002bxe.2_Silent_p.A504A|PCSK6_uc002bxf.1_Silent_p.A4A NM_002570 NP_002561 P29122 PCSK6_HUMAN paired basic amino acid cleaving system 4 504 Homo B/P. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity pancreas(2) 2 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TGTCCGAGGCGGCCACACACA 0.557 5 15 --- --- --- --- PASS TARSL2 123283 broad.mit.edu 37 15 102242492 102242492 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:102242492C>T uc002bxm.2 - 9 1226 c.1171G>A c.(1171-1173)GAA>AAA p.E391K TARSL2_uc002bxl.2_5'UTR|TARSL2_uc010usi.1_RNA NM_152334 NP_689547 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 391 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity ovary(2) 2 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TGGAACTTTTCCCAGTCTCTC 0.428 28 74 --- --- --- --- PASS OR4F6 390648 broad.mit.edu 37 15 102346096 102346096 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr15:102346096C>T uc010utr.1 + 1 174 c.174C>T c.(172-174)CCC>CCT p.P58P NM_001005326 NP_001005326 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, 58 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TACAGTCCCCCATGTACTTCC 0.458 41 93 --- --- --- --- PASS ITFG3 83986 broad.mit.edu 37 16 304623 304623 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:304623C>T uc002cgf.2 + 3 406 c.211C>T c.(211-213)CCG>TCG p.P71S ITFG3_uc010bqr.2_Intron|ITFG3_uc002cgg.2_Missense_Mutation_p.P71S|ITFG3_uc010uud.1_RNA|ITFG3_uc002cgh.2_Missense_Mutation_p.P71S NM_032039 NP_114428 Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 71 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) ATTCGTCATCCCGTGTCCAGA 0.612 70 49 --- --- --- --- PASS CACNA1H 8912 broad.mit.edu 37 16 1257787 1257787 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:1257787C>T uc002cks.2 + 15 3329 c.3081C>T c.(3079-3081)TCC>TCT p.S1027S CACNA1H_uc002ckt.2_Silent_p.S1027S|CACNA1H_uc002cku.2_5'Flank|CACNA1H_uc010brj.2_5'Flank|CACNA1H_uc002ckv.2_5'Flank NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 1027 Cytoplasmic (Potential). aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(2) 2 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CCAACAGATCCGACACGGACG 0.617 8 2 --- --- --- --- PASS BAIAP3 8938 broad.mit.edu 37 16 1394101 1394101 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:1394101C>T uc002clk.1 + 16 1570 c.1570C>T c.(1570-1572)CCT>TCT p.P524S BAIAP3_uc002clj.2_Missense_Mutation_p.P506S|BAIAP3_uc010uuz.1_Missense_Mutation_p.P489S|BAIAP3_uc010uva.1_Missense_Mutation_p.P461S|BAIAP3_uc010uvc.1_Missense_Mutation_p.P453S NM_003933 NP_003924 O94812 BAIP3_HUMAN BAI1-associated protein 3 524 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding pancreas(1) 1 Hepatocellular(780;0.0893) AGACTACTTCCCTGCCACCAA 0.682 4 7 --- --- --- --- PASS TELO2 9894 broad.mit.edu 37 16 1545551 1545551 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:1545551C>T uc002cly.2 + 3 831 c.540C>T c.(538-540)TTC>TTT p.F180F TELO2_uc010uvg.1_Silent_p.F180F NM_016111 NP_057195 Q9Y4R8 TELO2_HUMAN TEL2, telomere maintenance 2, homolog 180 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding 0 Hepatocellular(780;0.219) CCGAGTTCTTCCCCCAGAACT 0.672 25 13 --- --- --- --- PASS CASKIN1 57524 broad.mit.edu 37 16 2236736 2236736 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:2236736G>A uc010bsg.1 - 10 1052 c.1020C>T c.(1018-1020)TCC>TCT p.S340S NM_020764 NP_065815 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 340 SH3. signal transduction cytoplasm skin(2) 2 CCTCGCCCAGGGAGGACGGGA 0.667 6 24 --- --- --- --- PASS RNPS1 10921 broad.mit.edu 37 16 2312359 2312359 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:2312359G>A uc002cpt.2 - 6 1142 c.596C>T c.(595-597)CCC>CTC p.P199L RNPS1_uc002cpu.2_Missense_Mutation_p.P199L|RNPS1_uc002cpv.2_Missense_Mutation_p.P22L|RNPS1_uc002cpw.2_Missense_Mutation_p.P199L|RNPS1_uc002cpx.2_Missense_Mutation_p.P176L|RNPS1_uc010uwa.1_RNA NM_080594 NP_542161 Q15287 RNPS1_HUMAN RNA-binding protein S1, serine-rich domain 199 Necessary for interaction with PNN and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|RRM. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription cytosol|nuclear speck mRNA 3'-UTR binding|nucleotide binding|protein binding ovary(1) 1 GGACAGATGGGGATGCATCCT 0.488 12 43 --- --- --- --- PASS ABCA3 21 broad.mit.edu 37 16 2376095 2376095 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:2376095C>T uc002cpy.1 - 5 947 c.235G>A c.(235-237)GAG>AAG p.E79K ABCA3_uc010bsk.1_Missense_Mutation_p.E79K|ABCA3_uc010bsl.1_Missense_Mutation_p.E79K|ABCA3_uc002cpz.1_Missense_Mutation_p.E79K NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 79 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) TAGGCAAGCTCCCAGGTGTCT 0.592 30 6 --- --- --- --- PASS NTN3 4917 broad.mit.edu 37 16 2522450 2522450 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:2522450C>T uc002cqj.2 + 1 951 c.748C>T c.(748-750)CAG>TAG p.Q250* TBC1D24_uc002cqk.2_5'Flank|TBC1D24_uc002cql.2_5'Flank NM_006181 NP_006172 O00634 NET3_HUMAN netrin 3 precursor 250 Laminin N-terminal. axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation proteinaceous extracellular matrix central_nervous_system(1) 1 CACCGACCTCCAGGTGGGCGG 0.667 13 17 --- --- --- --- PASS ZSCAN10 84891 broad.mit.edu 37 16 3140621 3140621 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:3140621C>T uc002ctv.1 - 5 737 c.649G>A c.(649-651)GAG>AAG p.E217K ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Missense_Mutation_p.E135K|ZSCAN10_uc002ctx.1_Missense_Mutation_p.E145K NM_032805 NP_116194 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 217 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 TTAAATTCCTCCTTGTCTGGG 0.562 7 24 --- --- --- --- PASS ZSCAN10 84891 broad.mit.edu 37 16 3140622 3140622 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:3140622C>T uc002ctv.1 - 5 736 c.648G>A c.(646-648)AAG>AAA p.K216K ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Silent_p.K134K|ZSCAN10_uc002ctx.1_Silent_p.K144K NM_032805 NP_116194 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 216 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 TAAATTCCTCCTTGTCTGGGG 0.562 7 23 --- --- --- --- PASS ZNF213 7760 broad.mit.edu 37 16 3188510 3188510 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:3188510C>T uc010uws.1 + 3 938 c.491C>T c.(490-492)CCG>CTG p.P164L ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_3'UTR|ZNF213_uc010bth.2_Missense_Mutation_p.P164L|ZNF213_uc010uwt.1_Missense_Mutation_p.P164L NM_004220 NP_004211 O14771 ZN213_HUMAN zinc finger protein 213 164 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CGGAGGCGGCCGTCTGTTCCC 0.687 8 5 --- --- --- --- PASS OR1F1 4992 broad.mit.edu 37 16 3254963 3254963 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:3254963C>T uc010uwu.1 + 1 717 c.717C>T c.(715-717)TCC>TCT p.S239S NM_012360 NP_036492 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, 239 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AAGCCTTCTCCACCTGTGGTT 0.493 51 25 --- --- --- --- PASS ZNF75A 7627 broad.mit.edu 37 16 3366913 3366913 + Silent SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:3366913A>G uc002cut.3 + 5 628 c.102A>G c.(100-102)GCA>GCG p.A34A ZNF75A_uc002cuv.3_RNA NM_153028 NP_694573 Q96N20 ZN75A_HUMAN zinc finger protein 75a 34 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 ATTTGACAGCATTGTTTGTGC 0.443 7 44 --- --- --- --- PASS BTBD12 84464 broad.mit.edu 37 16 3639381 3639381 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:3639381G>A uc002cvp.2 - 12 4885 c.4258C>T c.(4258-4260)CCA>TCA p.P1420S NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 1420 Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 ATTGGAATTGGGGGGTCACTG 0.627 Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia 18 41 --- --- --- --- PASS BTBD12 84464 broad.mit.edu 37 16 3658604 3658604 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:3658604T>C uc002cvp.2 - 2 989 c.362A>G c.(361-363)AAA>AGA p.K121R BTBD12_uc002cvq.1_Missense_Mutation_p.K121R NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 121 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 CCTTTGCTTTTTAGTCCTAGG 0.542 Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia 14 29 --- --- --- --- PASS CORO7 79585 broad.mit.edu 37 16 4410973 4410973 + Missense_Mutation SNP G A A rs140152390 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:4410973G>A uc002cwh.3 - 19 2008 c.1888C>T c.(1888-1890)CGG>TGG p.R630W CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.R630W|CORO7_uc002cwg.3_Missense_Mutation_p.R410W|CORO7_uc010uxh.1_Missense_Mutation_p.R612W|CORO7_uc010uxi.1_Missense_Mutation_p.R545W|CORO7_uc002cwi.1_Missense_Mutation_p.R410W|CORO7_uc010uxj.1_RNA NM_024535 NP_078811 P57737 CORO7_HUMAN coronin 7 630 WD 6. cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction 0 AGCTTCAGCCGATCAGCTCCA 0.443 22 20 --- --- --- --- PASS SEPT12 124404 broad.mit.edu 37 16 4833651 4833651 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:4833651C>T uc002cxq.2 - 6 770 c.629G>A c.(628-630)AGG>AAG p.R210K SEPT12_uc002cxr.2_Missense_Mutation_p.R164K|SEPT12_uc010bty.2_RNA NM_144605 NP_653206 Q8IYM1 SEP12_HUMAN septin 12 isoform 2 210 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity skin(1) 1 CCAGATCACCCTGCGCCTGAA 0.657 12 35 --- --- --- --- PASS UBN1 29855 broad.mit.edu 37 16 4924219 4924219 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:4924219C>T uc002cyb.2 + 15 2147 c.1808C>T c.(1807-1809)TCT>TTT p.S603F UBN1_uc010uxw.1_Missense_Mutation_p.S603F|UBN1_uc002cyc.2_Missense_Mutation_p.S603F NM_001079514 NP_001072982 Q9NPG3 UBN1_HUMAN ubinuclein 1 603 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity skin(2) 2 TAGGAATCGTCTACGAAGCCT 0.458 66 43 --- --- --- --- PASS C16orf89 146556 broad.mit.edu 37 16 5112524 5112524 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:5112524G>A uc010bud.2 - 2 462 c.374C>T c.(373-375)CCG>CTG p.P125L ALG1_uc002cyj.2_Intron|C16orf89_uc002cyk.3_Missense_Mutation_p.P125L NM_152459 NP_689672 Q6UX73 CP089_HUMAN hypothetical protein LOC146556 isoform 1 87 extracellular region ovary(1)|skin(1) 2 CAGGCTCAGCGGCTGCAGCAG 0.562 24 8 --- --- --- --- PASS GRIN2A 2903 broad.mit.edu 37 16 9858202 9858202 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:9858202G>A uc002czo.3 - 13 3747 c.3199C>T c.(3199-3201)CGG>TGG p.R1067W GRIN2A_uc010uym.1_Missense_Mutation_p.R1067W|GRIN2A_uc010uyn.1_Missense_Mutation_p.R910W|GRIN2A_uc002czr.3_Missense_Mutation_p.R1067W NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1067 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CACGTGGCCCGATTTGACGTT 0.498 62 49 --- --- --- --- PASS GRIN2A 2903 broad.mit.edu 37 16 9858517 9858517 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:9858517C>T uc002czo.3 - 13 3432 c.2884G>A c.(2884-2886)GAA>AAA p.E962K GRIN2A_uc010uym.1_Missense_Mutation_p.E962K|GRIN2A_uc010uyn.1_Missense_Mutation_p.E805K|GRIN2A_uc002czr.3_Missense_Mutation_p.E962K NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 962 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.E962K(1) skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTTTGGAGTTCGTTCATGTTG 0.438 22 48 --- --- --- --- PASS GRIN2A 2903 broad.mit.edu 37 16 9934562 9934562 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:9934562C>T uc002czo.3 - 7 2141 c.1593G>A c.(1591-1593)ACG>ACA p.T531T GRIN2A_uc010uym.1_Silent_p.T531T|GRIN2A_uc010uyn.1_Silent_p.T374T|GRIN2A_uc002czr.3_Silent_p.T531T NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 531 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CACTGATTCCCGTTTCCACAA 0.468 29 20 --- --- --- --- PASS TEKT5 146279 broad.mit.edu 37 16 10788716 10788716 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:10788716C>T uc002czz.1 - 1 87 c.15G>A c.(13-15)GGG>GGA p.G5G NM_144674 NP_653275 Q96M29 TEKT5_HUMAN tektin 5 5 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 TCTGAGTAGTCCCAAGAAACT 0.547 20 12 --- --- --- --- PASS TEKT5 146279 broad.mit.edu 37 16 10788717 10788717 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:10788717C>T uc002czz.1 - 1 86 c.14G>A c.(13-15)GGG>GAG p.G5E NM_144674 NP_653275 Q96M29 TEKT5_HUMAN tektin 5 5 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 CTGAGTAGTCCCAAGAAACTC 0.552 20 12 --- --- --- --- PASS NUBP1 4682 broad.mit.edu 37 16 10855685 10855685 + Silent SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:10855685C>A uc002daa.1 + 9 812 c.789C>A c.(787-789)CTC>CTA p.L263L FAM18A_uc010uyr.1_Intron|FAM18A_uc010uys.1_Intron|FAM18A_uc010uyt.1_Intron|FAM18A_uc010bun.2_Intron|FAM18A_uc010uyu.1_Intron|FAM18A_uc002dad.3_Intron|NUBP1_uc010bum.1_Silent_p.L128L|NUBP1_uc002dab.1_Silent_p.L252L NM_002484 NP_002475 P53384 NUBP1_HUMAN nucleotide binding protein 1 263 cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly cytosol 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding ovary(1)|skin(1) 2 AGGTCCCTCTCCTCGGCAGAG 0.622 13 7 --- --- --- --- PASS TNP2 7142 broad.mit.edu 37 16 11362727 11362727 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:11362727C>T uc002das.2 - 1 434 c.393G>A c.(391-393)CGG>CGA p.R131R C16orf75_uc002daq.1_Intron NM_005425 NP_005416 Q05952 STP2_HUMAN transition protein 2 (during histone to 131 cell differentiation|multicellular organismal development|spermatogenesis nucleosome|nucleus DNA binding 0 TACCTGAGCTCCGCGTCTTGG 0.552 20 6 --- --- --- --- PASS LITAF 9516 broad.mit.edu 37 16 11650521 11650521 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:11650521G>A uc002daz.2 - 2 299 c.66C>T c.(64-66)TCC>TCT p.S22S LITAF_uc002dba.2_Silent_p.S22S|LITAF_uc002dbb.2_Silent_p.S22S|LITAF_uc002dbc.2_Silent_p.S22S|LITAF_uc002dbd.2_Silent_p.S22S|LITAF_uc002dbe.3_Silent_p.S22S NM_004862 NP_004853 Q99732 LITAF_HUMAN lipopolysaccharide-induced TNF-alpha factor 22 WW-binding. apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|lysosomal membrane signal transducer activity|WW domain binding liver(1) 1 TCTCTTCATAGGATGGAGGTG 0.547 9 15 --- --- --- --- PASS MYH11 4629 broad.mit.edu 37 16 15829337 15829337 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:15829337C>T uc002ddy.2 - 26 3499 c.3392G>A c.(3391-3393)CGG>CAG p.R1131Q MYH11_uc002ddv.2_Missense_Mutation_p.R1138Q|MYH11_uc002ddw.2_Missense_Mutation_p.R1131Q|MYH11_uc002ddx.2_Missense_Mutation_p.R1138Q|MYH11_uc010bvg.2_Missense_Mutation_p.R963Q NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 1131 Potential. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 CCTGGCGGCCCGCTCTGAGTC 0.582 T CBFB AML 51 30 --- --- --- --- PASS XYLT1 64131 broad.mit.edu 37 16 17353133 17353133 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:17353133G>A uc002dfa.2 - 3 710 c.625C>T c.(625-627)CCT>TCT p.P209S NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 209 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 CCTTTCCCAGGGAATGTATGT 0.577 20 68 --- --- --- --- PASS ARL6IP1 23204 broad.mit.edu 37 16 18810056 18810056 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:18810056G>A uc002dfl.1 - 2 206 c.137C>T c.(136-138)CCT>CTT p.P46L ARL6IP1_uc010van.1_Missense_Mutation_p.P17L|ARL6IP1_uc010bvz.1_RNA NM_015161 NP_055976 Q15041 AR6P1_HUMAN ADP-ribosylation factor-like 6 interacting 46 Helical; (Potential). integral to membrane protein binding 0 CATGATGGCAGGTGGAAACCA 0.433 26 67 --- --- --- --- PASS ARL6IP1 23204 broad.mit.edu 37 16 18810057 18810057 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:18810057G>A uc002dfl.1 - 2 205 c.136C>T c.(136-138)CCT>TCT p.P46S ARL6IP1_uc010van.1_Missense_Mutation_p.P17S|ARL6IP1_uc010bvz.1_RNA NM_015161 NP_055976 Q15041 AR6P1_HUMAN ADP-ribosylation factor-like 6 interacting 46 Helical; (Potential). integral to membrane protein binding 0 ATGATGGCAGGTGGAAACCAG 0.438 26 67 --- --- --- --- PASS SMG1 23049 broad.mit.edu 37 16 18844347 18844347 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:18844347G>A uc002dfm.2 - 51 9070 c.8707C>T c.(8707-8709)CTA>TTA p.L2903L SMG1_uc010bwb.2_Silent_p.L2763L|SMG1_uc010bwa.2_Silent_p.L1634L NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 2903 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 GATTCCACTAGAGTCTGCAGG 0.468 37 125 --- --- --- --- PASS TMC7 79905 broad.mit.edu 37 16 19068005 19068005 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:19068005C>T uc002dfq.2 + 14 2143 c.2013C>T c.(2011-2013)TTC>TTT p.F671F TMC7_uc002dfp.2_Silent_p.F671F|TMC7_uc010vap.1_Silent_p.F561F NM_024847 NP_079123 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 isoform a 671 Helical; (Potential). integral to membrane skin(2)|ovary(1) 3 CAGTTCCTTTCTTCATGATTA 0.577 24 22 --- --- --- --- PASS COQ7 10229 broad.mit.edu 37 16 19083408 19083408 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:19083408A>T uc002dfr.2 + 2 292 c.232A>T c.(232-234)AGC>TGC p.S78C COQ7_uc002dfs.2_Missense_Mutation_p.S64C NM_016138 NP_057222 Q99807 COQ7_HUMAN COQ7 protein 78 1.|2 X approximate tandem repeats. ubiquinone biosynthetic process mitochondrial inner membrane|nucleus oxidoreductase activity|transition metal ion binding skin(1) 1 GGGTCGGACCAGCGTCGGGCC 0.557 OREG0023656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 48 --- --- --- --- PASS SYT17 51760 broad.mit.edu 37 16 19195301 19195301 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:19195301C>T uc002dfw.2 + 5 1114 c.783C>T c.(781-783)ACC>ACT p.T261T SYT17_uc002dfx.2_Silent_p.T200T|SYT17_uc002dfy.2_Silent_p.T257T|SYT17_uc002dfv.1_Silent_p.T200T NM_016524 NP_057608 Q9BSW7 SYT17_HUMAN B/K protein 261 C2 1. membrane|synaptic vesicle transporter activity ovary(1) 1 AGCGCTACACCTTCGAGATCC 0.557 27 78 --- --- --- --- PASS ACSM2A 123876 broad.mit.edu 37 16 20471551 20471551 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:20471551G>A uc010bwe.2 + 3 354 c.115G>A c.(115-117)GAA>AAA p.E39K ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Intron|ACSM2A_uc002dhf.3_Missense_Mutation_p.E39K|ACSM2A_uc002dhg.3_Missense_Mutation_p.E39K|ACSM2A_uc010vay.1_Intron NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 39 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 GGGCCACCAGGAAGTGCCGGC 0.507 11 14 --- --- --- --- PASS ACSM2A 123876 broad.mit.edu 37 16 20494415 20494415 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:20494415C>T uc010bwe.2 + 14 1784 c.1545C>T c.(1543-1545)TTC>TTT p.F515F ACSM2A_uc002dhf.3_Silent_p.F515F|ACSM2A_uc002dhg.3_Silent_p.F515F|ACSM2A_uc010vay.1_Silent_p.F436F|ACSM2A_uc002dhh.3_Silent_p.F145F NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 515 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 CCTCGCAGTTCCTGTCCCATG 0.507 25 67 --- --- --- --- PASS ACSM2A 123876 broad.mit.edu 37 16 20494431 20494431 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:20494431G>A uc010bwe.2 + 14 1800 c.1561G>A c.(1561-1563)GAA>AAA p.E521K ACSM2A_uc002dhf.3_Missense_Mutation_p.E521K|ACSM2A_uc002dhg.3_Missense_Mutation_p.E521K|ACSM2A_uc010vay.1_Missense_Mutation_p.E442K|ACSM2A_uc002dhh.3_Missense_Mutation_p.E151K NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 521 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 CCATGACCCAGAACAGCTCAC 0.512 28 54 --- --- --- --- PASS ACSM2B 348158 broad.mit.edu 37 16 20548624 20548624 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:20548624G>A uc002dhj.3 - 15 1900 c.1690C>T c.(1690-1692)CGA>TGA p.R564* ACSM2B_uc002dhk.3_Nonsense_Mutation_p.R564* NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 564 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 TCCTTGTCTCGAAGTTTGGTT 0.463 48 136 --- --- --- --- PASS DCUN1D3 123879 broad.mit.edu 37 16 20873630 20873630 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:20873630C>T uc002dhz.2 - 2 372 c.231G>A c.(229-231)AGG>AGA p.R77R ERI2_uc002dht.3_Intron NM_173475 NP_775746 Q8IWE4 DCNL3_HUMAN DCN1, defective in cullin neddylation 1, domain 77 negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C perinuclear region of cytoplasm ovary(2) 2 GBM - Glioblastoma multiforme(48;0.249) ACTTGGACTCCCTCCCAGCAT 0.572 29 76 --- --- --- --- PASS DNAH3 55567 broad.mit.edu 37 16 20966324 20966324 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:20966324C>T uc010vbe.1 - 55 10882 c.10882G>A c.(10882-10884)GGA>AGA p.G3628R DNAH3_uc010vbd.1_Missense_Mutation_p.G1063R NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3628 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) ATTTTGATTCCATTCTGGAGA 0.483 10 42 --- --- --- --- PASS DNAH3 55567 broad.mit.edu 37 16 20975616 20975616 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:20975616G>A uc010vbe.1 - 53 9590 c.9590C>T c.(9589-9591)ACC>ATC p.T3197I DNAH3_uc010vbd.1_Missense_Mutation_p.T632I NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3197 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) ACCCAAGGGGGTGATCATGAA 0.478 11 34 --- --- --- --- PASS DNAH3 55567 broad.mit.edu 37 16 21049287 21049287 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:21049287G>A uc010vbe.1 - 34 4746 c.4746C>T c.(4744-4746)ATC>ATT p.I1582I NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1582 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) AGGTCGCAACGATCTTCTGGG 0.552 7 9 --- --- --- --- PASS ZP2 7783 broad.mit.edu 37 16 21208822 21208822 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:21208822T>A uc002dii.2 - 19 2217 c.2217A>T c.(2215-2217)AAA>AAT p.K739N ZP2_uc010bwn.1_Missense_Mutation_p.K769N NM_003460 NP_003451 Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 preproprotein 739 Cytoplasmic (Potential). binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(48;0.0573) ACACAGTCCTTTTCTCGTACA 0.438 15 33 --- --- --- --- PASS VWA3A 146177 broad.mit.edu 37 16 22161125 22161125 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:22161125T>A uc010vbq.1 + 29 3098 c.3002T>A c.(3001-3003)TTT>TAT p.F1001Y VWA3A_uc010bxd.2_RNA|VWA3A_uc002dkg.3_Missense_Mutation_p.F79Y|VWA3A_uc010bxe.1_Missense_Mutation_p.F103Y NM_173615 NP_775886 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 1001 VWFA 2. extracellular region skin(1) 1 GBM - Glioblastoma multiforme(48;0.0439) CTGCTCAGCTTTGCAGAGAGC 0.532 4 21 --- --- --- --- PASS PLK1 5347 broad.mit.edu 37 16 23700940 23700940 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:23700940C>T uc002dlz.1 + 9 1604 c.1551C>T c.(1549-1551)ACC>ACT p.T517T NM_005030 NP_005021 P53350 PLK1_HUMAN polo-like kinase 1 517 POLO box 2. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding lung(1)|skin(1) 2 GBM - Glioblastoma multiforme(48;0.0156) GGTTCCGCACCCGCAGCGCCA 0.627 4 11 --- --- --- --- PASS PRKCB 5579 broad.mit.edu 37 16 24196821 24196821 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:24196821C>T uc002dmd.2 + 15 1852 c.1655C>T c.(1654-1656)TCC>TTC p.S552F PRKCB_uc002dme.2_Missense_Mutation_p.S552F NM_212535 NP_997700 P05771 KPCB_HUMAN protein kinase C, beta isoform 1 552 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1) 9 Vitamin E(DB00163) CTCTTCCAATCCATCATGGAA 0.502 12 45 --- --- --- --- PASS RBBP6 5930 broad.mit.edu 37 16 24567164 24567164 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:24567164C>T uc002dmh.2 + 6 1500 c.460C>T c.(460-462)CCA>TCA p.P154S RBBP6_uc010vcb.1_Missense_Mutation_p.P21S|RBBP6_uc002dmi.2_Missense_Mutation_p.P154S|RBBP6_uc010bxr.2_Missense_Mutation_p.P154S|RBBP6_uc002dmk.2_Missense_Mutation_p.P21S NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 154 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) ACCTCTAGGTCCACCACCTCC 0.398 8 32 --- --- --- --- PASS TNRC6A 27327 broad.mit.edu 37 16 24831651 24831651 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:24831651T>A uc002dmm.2 + 22 5386 c.5272T>A c.(5272-5274)TGG>AGG p.W1758R TNRC6A_uc010bxs.2_Missense_Mutation_p.W1505R|TNRC6A_uc002dmn.2_Missense_Mutation_p.W1456R|TNRC6A_uc002dmo.2_Missense_Mutation_p.W1397R|TNRC6A_uc002dmr.2_5'Flank NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1758 Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) AGGTGGAGGATGGGGAAATTC 0.502 15 36 --- --- --- --- PASS IL4R 3566 broad.mit.edu 37 16 27363934 27363934 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:27363934C>T uc002don.2 + 7 829 c.587C>T c.(586-588)TCC>TTC p.S196F IL4R_uc002dom.2_Missense_Mutation_p.S196F|IL4R_uc002dop.3_Missense_Mutation_p.S181F|IL4R_uc010bxy.2_Missense_Mutation_p.S196F|IL4R_uc002doo.2_Missense_Mutation_p.S36F NM_000418 NP_000409 P24394 IL4RA_HUMAN interleukin 4 receptor alpha chain isoform a 196 Extracellular (Potential).|Fibronectin type-III. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity ovary(1)|skin(1) 2 TCTGGGATTTCCTACAGGGCA 0.557 20 37 --- --- --- --- PASS IL21R 50615 broad.mit.edu 37 16 27460557 27460557 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:27460557G>A uc002doq.1 + 9 1803 c.1570G>A c.(1570-1572)GTG>ATG p.V524M IL21R_uc002dor.1_Missense_Mutation_p.V524M|IL21R_uc002dos.1_Missense_Mutation_p.V524M|uc002dot.2_RNA NM_181078 NP_851564 Q9HBE5 IL21R_HUMAN interleukin 21 receptor precursor 524 Cytoplasmic (Potential). natural killer cell activation integral to membrane interleukin-21 receptor activity ovary(2)|lung(1)|breast(1) 4 CCGCCAGTGGGTGGTCATTCC 0.652 T BCL6 NHL 4 9 --- --- --- --- PASS GTF3C1 2975 broad.mit.edu 37 16 27506152 27506152 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:27506152G>A uc002dov.1 - 16 2750 c.2710C>T c.(2710-2712)CTC>TTC p.L904F GTF3C1_uc002dou.2_Missense_Mutation_p.L904F NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 904 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 TCGCTGACGAGAGCCCAGCCA 0.532 7 24 --- --- --- --- PASS RABEP2 79874 broad.mit.edu 37 16 28925737 28925737 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:28925737G>A uc002drq.2 - 5 762 c.714C>T c.(712-714)TCC>TCT p.S238S uc010vct.1_Intron|RABEP2_uc010vdf.1_Silent_p.S167S|RABEP2_uc010byn.2_Silent_p.S238S|RABEP2_uc002drr.2_Silent_p.S238S NM_024816 NP_079092 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 238 endocytosis|protein transport early endosome growth factor activity|GTPase activator activity ovary(1)|breast(1)|skin(1) 3 CACCGCCAAGGGAGAAGGAGG 0.682 6 16 --- --- --- --- PASS MVP 9961 broad.mit.edu 37 16 29855860 29855860 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:29855860C>T uc002dui.2 + 11 1765 c.1681C>T c.(1681-1683)CTC>TTC p.L561F uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc002duj.2_Missense_Mutation_p.L561F|MVP_uc010vea.1_Missense_Mutation_p.L155F NM_005115 NP_005106 Q14764 MVP_HUMAN major vault protein 561 mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 GACGGCCAAGCTCTTTTCAGT 0.547 24 33 --- --- --- --- PASS TAOK2 9344 broad.mit.edu 37 16 29998422 29998422 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:29998422C>T uc002dva.1 + 16 3612 c.2829C>T c.(2827-2829)CTC>CTT p.L943L uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Silent_p.L950L|TAOK2_uc002dvd.1_Silent_p.L770L NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 2 943 Leu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity p.S943S(1) ovary(1) 1 CCAGCCAGCTCCCTGGACTCC 0.657 21 54 --- --- --- --- PASS TAOK2 9344 broad.mit.edu 37 16 29998423 29998423 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:29998423C>T uc002dva.1 + 16 3613 c.2830C>T c.(2830-2832)CCT>TCT p.P944S uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.P951S|TAOK2_uc002dvd.1_Missense_Mutation_p.P771S NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 2 944 Leu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 CAGCCAGCTCCCTGGACTCCT 0.652 22 53 --- --- --- --- PASS TAOK2 9344 broad.mit.edu 37 16 29998717 29998717 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:29998717C>T uc002dva.1 + 16 3907 c.3124C>T c.(3124-3126)CCC>TCC p.P1042S uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.P1049S|TAOK2_uc002dvd.1_Missense_Mutation_p.P869S NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 2 1042 Leu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 CATGGGTGTTCCCCTGGGCCT 0.687 5 4 --- --- --- --- PASS GDPD3 79153 broad.mit.edu 37 16 30123683 30123683 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:30123683G>A uc002dwp.2 - 5 506 c.427C>T c.(427-429)CCA>TCA p.P143S uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_Missense_Mutation_p.P81S|LOC100271831_uc010vei.1_5'Flank NM_024307 NP_077283 Q7L5L3 GDPD3_HUMAN glycerophosphodiester phosphodiesterase domain 143 Extracellular (Potential).|GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding 0 GGTGTCCTTGGAAACCTCTGG 0.617 OREG0023731 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 31 --- --- --- --- PASS SEPT1 1731 broad.mit.edu 37 16 30390855 30390855 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:30390855C>T uc002dxy.2 - 9 848 c.661G>A c.(661-663)GAA>AAA p.E221K SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_Missense_Mutation_p.E46K NM_052838 NP_443070 Q8WYJ6 SEPT1_HUMAN septin 1 221 cell cycle|cell division microtubule organizing center|septin complex GTP binding|protein binding ovary(1) 1 Colorectal(24;0.193) GGGATGCTTTCCTGGAGGGCA 0.637 8 19 --- --- --- --- PASS ZNF764 92595 broad.mit.edu 37 16 30566770 30566770 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:30566770G>A uc002dyq.2 - 3 1053 c.972C>T c.(970-972)TTC>TTT p.F324F ZNF764_uc002dyr.1_Silent_p.F323F NM_033410 NP_219363 Q96H86 ZN764_HUMAN zinc finger protein 764 324 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AGCTCTGGCGGAAGCAGCGCC 0.731 5 6 --- --- --- --- PASS ZNF785 146540 broad.mit.edu 37 16 30594078 30594078 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:30594078G>A uc002dyw.1 - 3 1099 c.1021C>T c.(1021-1023)CCC>TCC p.P341S uc002dyu.2_RNA|ZNF785_uc002dyv.1_Missense_Mutation_p.P326S|ZNF785_uc010vez.1_Missense_Mutation_p.P306S NM_152458 NP_689671 A8K8V0 ZN785_HUMAN zinc finger protein 785 341 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TCCACGCAGGGGAAGGGCCGG 0.672 5 28 --- --- --- --- PASS SRCAP 10847 broad.mit.edu 37 16 30749570 30749570 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:30749570C>T uc002dze.1 + 34 8594 c.8209C>T c.(8209-8211)CGG>TGG p.R2737W SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R2532W NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 2737 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) AGGGACTGGTCGGCCAGGACA 0.617 15 30 --- --- --- --- PASS RNF40 9810 broad.mit.edu 37 16 30779730 30779730 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:30779730C>T uc002dzq.2 + 13 1981 c.1858C>T c.(1858-1860)CCC>TCC p.P620S RNF40_uc010caa.2_Missense_Mutation_p.P620S|RNF40_uc010cab.2_Missense_Mutation_p.P520S|RNF40_uc010vfa.1_5'UTR|RNF40_uc002dzr.2_Missense_Mutation_p.P620S|RNF40_uc010vfb.1_Missense_Mutation_p.P312S|RNF40_uc010vfc.1_5'UTR NM_014771 NP_055586 O75150 BRE1B_HUMAN ring finger protein 40 620 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1) 1 Colorectal(24;0.198) ACGGGAAGGTCCCAGCCTAGG 0.622 13 28 --- --- --- --- PASS SETD1A 9739 broad.mit.edu 37 16 30977242 30977242 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:30977242C>T uc002ead.1 + 8 2726 c.2040C>T c.(2038-2040)TTC>TTT p.F680F NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 680 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 CCATGTCCTTCCAGATGCAGA 0.627 28 51 --- --- --- --- PASS ZNF668 79759 broad.mit.edu 37 16 31072431 31072431 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:31072431G>A uc010caf.2 - 3 2175 c.1818C>T c.(1816-1818)CCC>CCT p.P606P ZNF668_uc002eao.2_Silent_p.P606P NM_024706 NP_078982 Q96K58 ZN668_HUMAN zinc finger protein 668 606 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4) 4 AAGCCACCAGGGGCTCCAGGG 0.672 14 21 --- --- --- --- PASS ZNF668 79759 broad.mit.edu 37 16 31072432 31072432 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:31072432G>A uc010caf.2 - 3 2174 c.1817C>T c.(1816-1818)CCC>CTC p.P606L ZNF668_uc002eao.2_Missense_Mutation_p.P606L NM_024706 NP_078982 Q96K58 ZN668_HUMAN zinc finger protein 668 606 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4) 4 AGCCACCAGGGGCTCCAGGGG 0.667 15 22 --- --- --- --- PASS ITGAM 3684 broad.mit.edu 37 16 31336706 31336706 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:31336706G>A uc002ebq.2 + 20 2584 c.2486G>A c.(2485-2487)CGG>CAG p.R829Q ITGAM_uc002ebr.2_Missense_Mutation_p.R830Q|ITGAM_uc010can.2_Missense_Mutation_p.R235Q|ITGAM_uc002ebs.1_Missense_Mutation_p.R235Q|ITGAM_uc010vfj.1_RNA NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 829 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 CTGTCCTACCGGAAGGTGTCC 0.572 13 26 --- --- --- --- PASS ITGAD 3681 broad.mit.edu 37 16 31425842 31425842 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:31425842C>T uc002ebv.1 + 17 2116 c.2067C>T c.(2065-2067)TTC>TTT p.F689F ITGAD_uc010cap.1_Silent_p.F690F NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 689 Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 GTGCCATTTTCAATGAAACCA 0.493 65 185 --- --- --- --- PASS ARMC5 79798 broad.mit.edu 37 16 31471195 31471195 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:31471195C>T uc002ecc.2 + 1 879 c.350C>T c.(349-351)TCT>TTT p.S117F ARMC5_uc010vfn.1_Missense_Mutation_p.S212F|ARMC5_uc010vfo.1_Missense_Mutation_p.S149F|ARMC5_uc002eca.3_Missense_Mutation_p.S117F|ARMC5_uc010vfp.1_Missense_Mutation_p.S117F|ARMC5_uc002ecb.2_Missense_Mutation_p.S117F NM_001105247 NP_001098717 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 isoform a 117 binding pancreas(1) 1 GTGTCGTCGTCTAGTCCTACG 0.597 3 3 --- --- --- --- PASS GPT2 84706 broad.mit.edu 37 16 46943767 46943767 + Missense_Mutation SNP C T T rs116572438 by1000genomes TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:46943767C>T uc002eel.2 + 6 842 c.748C>T c.(748-750)CGG>TGG p.R250W GPT2_uc002eem.2_Missense_Mutation_p.R150W NM_133443 NP_597700 Q8TD30 ALAT2_HUMAN glutamic pyruvate transaminase 2 isoform 1 250 2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process mitochondrial matrix L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(1)|skin(1) 2 all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TGAGCTCCGGCGGGCGGTGCA 0.552 7 32 --- --- --- --- PASS ITFG1 81533 broad.mit.edu 37 16 47486699 47486699 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:47486699G>A uc002eet.2 - 4 492 c.430C>T c.(430-432)CCT>TCT p.P144S ITFG1_uc010vgh.1_Missense_Mutation_p.P31S|ITFG1_uc010cbf.1_Missense_Mutation_p.P31S NM_030790 NP_110417 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 144 extracellular region|integral to membrane ovary(1)|central_nervous_system(1) 2 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) ATATTGTTAGGATCTGCAAAA 0.289 4 13 --- --- --- --- PASS ABCC12 94160 broad.mit.edu 37 16 48180299 48180299 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:48180299C>T uc002efc.1 - 1 383 c.37G>A c.(37-39)GAC>AAC p.D13N ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.D13N|ABCC12_uc010vgj.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 13 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) CCTCGCTGGTCCAGATCTGAG 0.557 14 26 --- --- --- --- PASS ZNF423 23090 broad.mit.edu 37 16 49670785 49670785 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:49670785G>A uc002efs.2 - 5 2576 c.2278C>T c.(2278-2280)CGC>TGC p.R760C ZNF423_uc010vgn.1_Missense_Mutation_p.R643C NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 760 C2H2-type 18. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) GCCTCCTTGCGGAAGTCCCAG 0.597 6 21 --- --- --- --- PASS ZNF423 23090 broad.mit.edu 37 16 49670786 49670786 + Silent SNP G A A rs138951619 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:49670786G>A uc002efs.2 - 5 2575 c.2277C>T c.(2275-2277)TTC>TTT p.F759F ZNF423_uc010vgn.1_Silent_p.F642F NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 759 C2H2-type 18. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) CCTCCTTGCGGAAGTCCCAGT 0.597 6 22 --- --- --- --- PASS PAPD5 64282 broad.mit.edu 37 16 50258577 50258577 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:50258577T>C uc010vgo.1 + 9 1381 c.1346T>C c.(1345-1347)GTT>GCT p.V449A PAPD5_uc010cbi.2_RNA|PAPD5_uc002efz.2_Missense_Mutation_p.V240A|PAPD5_uc002ega.2_Missense_Mutation_p.V240A NM_001040284 NP_001035374 Q8NDF8 PAPD5_HUMAN PAP associated domain containing 5 isoform a 370 cell division|DNA replication|histone mRNA catabolic process|mitosis cytoplasm|nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding 0 all_cancers(37;0.0452) BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231) GGTAACGATGTTGGAAGGAGT 0.418 31 37 --- --- --- --- PASS BRD7 29117 broad.mit.edu 37 16 50388743 50388743 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:50388743G>A uc002egf.1 - 4 416 c.349C>T c.(349-351)CCT>TCT p.P117S BRD7_uc002ege.1_Missense_Mutation_p.P117S NM_013263 NP_037395 Q9NPI1 BRD7_HUMAN bromodomain containing 7 117 cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleus histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding 0 all_cancers(37;0.0127) GGCTTCTCAGGAGGCAAGTCT 0.448 22 68 --- --- --- --- PASS SNX20 124460 broad.mit.edu 37 16 50707814 50707814 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:50707814C>T uc002egk.2 - 4 627 c.454G>A c.(454-456)GAG>AAG p.E152K SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron NM_182854 NP_878274 Q7Z614 SNX20_HUMAN sorting nexin 20 isoform 1 152 PX. cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding ovary(1) 1 CAGATCATCTCCTCAGCGAAG 0.622 12 26 --- --- --- --- PASS NOD2 64127 broad.mit.edu 37 16 50744674 50744674 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:50744674C>T uc002egm.1 + 4 957 c.852C>T c.(850-852)ACC>ACT p.T284T NOD2_uc010cbk.1_Silent_p.T257T|NOD2_uc002egl.1_Silent_p.T62T|NOD2_uc010cbl.1_Silent_p.T62T|NOD2_uc010cbm.1_Silent_p.T62T|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 284 activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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 cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) TCTTCAGCACCCCTGGCCACC 0.642 5 8 --- --- --- --- PASS CYLD 1540 broad.mit.edu 37 16 50810116 50810116 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:50810116C>T uc002egp.1 + 7 1364 c.949C>T c.(949-951)CCC>TCC p.P317S CYLD_uc002egn.1_Missense_Mutation_p.P314S|CYLD_uc002ego.2_Missense_Mutation_p.P314S|CYLD_uc010cbs.1_Missense_Mutation_p.P314S|CYLD_uc002egq.1_Missense_Mutation_p.P314S|CYLD_uc002egr.1_Missense_Mutation_p.P314S|CYLD_uc002egs.1_Missense_Mutation_p.P314S NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD 317 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) AAGGAGGCCTCCCAAACTTGC 0.383 Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial 13 26 --- --- --- --- PASS SALL1 6299 broad.mit.edu 37 16 51172738 51172738 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:51172738T>C uc010vgs.1 - 2 3426 c.3395A>G c.(3394-3396)AAG>AGG p.K1132R SALL1_uc010vgr.1_Missense_Mutation_p.K1035R|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 1132 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GTAGTGCTGCTTGGGAGTTCT 0.562 6 18 --- --- --- --- PASS SALL1 6299 broad.mit.edu 37 16 51173282 51173282 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:51173282C>T uc010vgs.1 - 2 2882 c.2851G>A c.(2851-2853)GCG>ACG p.A951T SALL1_uc010vgr.1_Missense_Mutation_p.A854T|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 951 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CTTGGGACCGCTCTCTGTGGT 0.522 15 31 --- --- --- --- PASS SALL1 6299 broad.mit.edu 37 16 51173945 51173945 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:51173945C>T uc010vgs.1 - 2 2219 c.2188G>A c.(2188-2190)GGG>AGG p.G730R SALL1_uc010vgr.1_Missense_Mutation_p.G633R|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 730 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GGCCTCTCCCCAGTGTGTGTC 0.532 9 54 --- --- --- --- PASS TOX3 27324 broad.mit.edu 37 16 52473848 52473848 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:52473848G>A uc002egw.2 - 7 1191 c.1020C>T c.(1018-1020)ATC>ATT p.I340I TOX3_uc010vgt.1_Silent_p.I335I|TOX3_uc010vgu.1_Silent_p.I340I NM_001080430 NP_001073899 O15405 TOX3_HUMAN TOX high mobility group box family member 3 340 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity 0 GAACAGAACGGATGGTCTGGG 0.453 14 39 --- --- --- --- PASS CHD9 80205 broad.mit.edu 37 16 53338389 53338389 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:53338389C>T uc002ehb.2 + 30 6635 c.6471C>T c.(6469-6471)TCC>TCT p.S2157S CHD9_uc002egy.2_Silent_p.S2157S|CHD9_uc002ehc.2_Silent_p.S2157S|CHD9_uc002ehf.2_Silent_p.S1271S|CHD9_uc010cbw.2_Intron|CHD9_uc002ehg.1_Silent_p.S163S NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2157 Ser-rich. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) CTTCTTGCTCCCACTCTCGAT 0.264 4 8 --- --- --- --- PASS IRX6 79190 broad.mit.edu 37 16 55362636 55362636 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:55362636G>A uc002ehy.2 + 5 1279 c.746G>A c.(745-747)CGG>CAG p.R249Q IRX6_uc002ehx.2_Missense_Mutation_p.R249Q NM_024335 NP_077311 P78412 IRX6_HUMAN iroquois homeobox protein 6 249 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(1) 6 CAGGAGGCCCGGGGGCTCCGG 0.473 12 44 --- --- --- --- PASS CES7 221223 broad.mit.edu 37 16 55886869 55886869 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:55886869G>A uc002eip.2 - 10 1346 c.1197C>T c.(1195-1197)ATC>ATT p.I399I CES7_uc002eio.2_Silent_p.I399I|CES7_uc002eiq.2_Silent_p.I160I|CES7_uc002eir.2_Silent_p.I293I NM_001143685 NP_001137157 Q6NT32 EST5A_HUMAN carboxylesterase 7 isoform 1 399 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 all cancers(182;0.229)|Epithelial(162;0.231) GACTGTCTCGGATTTCAGTCA 0.483 17 56 --- --- --- --- PASS SLC12A3 6559 broad.mit.edu 37 16 56912056 56912056 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:56912056C>T uc010ccm.2 + 9 1192 c.1163C>T c.(1162-1164)GCC>GTC p.A388V SLC12A3_uc002ekd.3_Missense_Mutation_p.A388V|SLC12A3_uc010ccn.2_Missense_Mutation_p.A387V NM_001126108 NP_001119580 P55017 S12A3_HUMAN solute carrier family 12, member 3 isoform 3 388 Helical; (Potential). sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity ovary(2)|breast(1) 3 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) TCCTACCTGGCCATCTCAGCC 0.522 9 13 --- --- --- --- PASS SLC12A3 6559 broad.mit.edu 37 16 56916389 56916389 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:56916389C>T uc010ccm.2 + 13 1678 c.1649C>T c.(1648-1650)GCC>GTC p.A550V SLC12A3_uc002ekd.3_Missense_Mutation_p.A550V|SLC12A3_uc010ccn.2_Missense_Mutation_p.A549V NM_001126108 NP_001119580 P55017 S12A3_HUMAN solute carrier family 12, member 3 isoform 3 550 Helical; (Potential). sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity ovary(2)|breast(1) 3 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) TGCTTCCACGCCTCCATCACC 0.597 14 31 --- --- --- --- PASS FAM192A 80011 broad.mit.edu 37 16 57207713 57207713 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:57207713C>T uc010vhk.1 - 2 313 c.54G>A c.(52-54)GAG>GAA p.E18E FAM192A_uc002ekz.3_Silent_p.E18E|FAM192A_uc002ekv.3_Intron|FAM192A_uc002ekw.3_Silent_p.E18E|FAM192A_uc002ekx.3_Silent_p.E18E|FAM192A_uc002eky.3_Silent_p.E18E|FAM192A_uc010ccx.2_Silent_p.E18E NM_024946 NP_079222 Q9GZU8 F192A_HUMAN NEFA-interacting nuclear protein NIP30 18 nucleus 0 CTAGTTCTGCCTCAGACACAA 0.363 18 52 --- --- --- --- PASS CCDC135 84229 broad.mit.edu 37 16 57732912 57732912 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:57732912C>T uc002emi.2 + 3 443 c.354C>T c.(352-354)CAC>CAT p.H118H CCDC135_uc002emj.2_Silent_p.H118H|CCDC135_uc002emk.2_Silent_p.H118H NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 118 cytoplasm central_nervous_system(1) 1 TCTTCCTGCACCCCCTGAACG 0.637 36 94 --- --- --- --- PASS CNOT1 23019 broad.mit.edu 37 16 58580634 58580634 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:58580634G>A uc002env.2 - 28 4063 c.3770C>T c.(3769-3771)CCT>CTT p.P1257L CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.P1252L|CNOT1_uc002enx.2_Missense_Mutation_p.P1257L|CNOT1_uc010vik.1_Missense_Mutation_p.P214L NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1257 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) CATTGTCCAAGGGTTTGGTGG 0.358 8 49 --- --- --- --- PASS CNOT1 23019 broad.mit.edu 37 16 58621257 58621257 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:58621257C>T uc002env.2 - 5 663 c.370G>A c.(370-372)GTA>ATA p.V124I CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.V124I|CNOT1_uc002enx.2_Missense_Mutation_p.V124I|CNOT1_uc002enz.1_Intron NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 124 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) ACCTCTTGTACTTTGCTTAAT 0.333 31 37 --- --- --- --- PASS CDH8 1006 broad.mit.edu 37 16 61687532 61687532 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:61687532C>T uc002eog.1 - 12 2632 c.2380G>A c.(2380-2382)GAA>AAA p.E794K NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 794 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TTGTCACTTTCACCAACAGAG 0.448 12 33 --- --- --- --- PASS CDH8 1006 broad.mit.edu 37 16 61851579 61851579 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:61851579G>A uc002eog.1 - 7 1333 c.1081C>T c.(1081-1083)CAT>TAT p.H361Y CDH8_uc002eoh.2_Missense_Mutation_p.H130Y NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 361 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GGGTCAATATGGACATTGGCT 0.468 6 22 --- --- --- --- PASS CDH11 1009 broad.mit.edu 37 16 65016127 65016127 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:65016127G>A uc002eoi.2 - 8 1511 c.1077C>T c.(1075-1077)ATC>ATT p.I359I CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Silent_p.I359I|CDH11_uc010vin.1_Silent_p.I233I|CDH11_uc002eok.1_RNA NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 359 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) GGCCATTGCTGATAAACTTCG 0.478 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 13 46 --- --- --- --- PASS DYNC1LI2 1783 broad.mit.edu 37 16 66759779 66759779 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:66759779G>A uc002eqb.1 - 12 1361 c.1330C>T c.(1330-1332)CCT>TCT p.P444S DYNC1LI2_uc010vis.1_Missense_Mutation_p.P367S NM_006141 NP_006132 O43237 DC1L2_HUMAN dynein, cytoplasmic, light intermediate 444 transport centrosome|cytoplasmic dynein complex|microtubule ATP binding|motor activity central_nervous_system(3)|skin(1) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212) GGACTTCCAGGAGAGCCTGTC 0.478 54 93 --- --- --- --- PASS CA7 766 broad.mit.edu 37 16 66881131 66881131 + Splice_Site SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:66881131G>A uc002eqi.2 + 2 347 c.238_splice c.e2+1 p.V80_splice uc002eqh.2_Intron|CA7_uc002eqj.2_Splice_Site_p.V24_splice NM_005182 NP_005173 P43166 CAH7_HUMAN carbonic anhydrase VII isoform 1 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) GACCGAACCGGTAAGTGGCCC 0.562 7 14 --- --- --- --- PASS C16orf70 80262 broad.mit.edu 37 16 67180995 67180995 + Silent SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:67180995C>A uc002erc.2 + 17 1314 c.1230C>A c.(1228-1230)CCC>CCA p.P410P C16orf70_uc002erd.2_Silent_p.P410P|uc002erg.1_5'Flank NM_025187 NP_079463 Q9BSU1 CP070_HUMAN lin-10 410 ovary(2) 2 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579) ATGGCCCCCCCAGGCCTGGTA 0.602 5 66 --- --- --- --- PASS KCTD19 146212 broad.mit.edu 37 16 67327714 67327714 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:67327714C>T uc002esu.2 - 12 2002 c.1951G>A c.(1951-1953)GAA>AAA p.E651K KCTD19_uc002est.2_Missense_Mutation_p.E423K|KCTD19_uc010vjj.1_Missense_Mutation_p.E394K NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN potassium channel tetramerisation domain 651 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) GGCTGGAATTCCCACTGTTTG 0.582 21 33 --- --- --- --- PASS CTCF 10664 broad.mit.edu 37 16 67662408 67662408 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:67662408C>T uc002etl.2 + 9 1944 c.1654C>T c.(1654-1656)CCT>TCT p.P552S CTCF_uc010cek.2_Missense_Mutation_p.P224S|CTCF_uc002etm.1_Missense_Mutation_p.P41S NM_006565 NP_006556 P49711 CTCF_HUMAN CCCTC-binding factor 552 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) CAACTTCGTCCCTGCGGCTTT 0.498 39 69 --- --- --- --- PASS RANBP10 57610 broad.mit.edu 37 16 67768871 67768871 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:67768871G>A uc002eud.2 - 6 782 c.666C>T c.(664-666)TTC>TTT p.F222F RANBP10_uc010ceo.2_5'UTR|RANBP10_uc010vju.1_Silent_p.F166F|RANBP10_uc010vjv.1_Silent_p.F105F|RANBP10_uc010vjx.1_Silent_p.F222F|RANBP10_uc010vjy.1_Silent_p.F90F NM_020850 NP_065901 Q6VN20 RBP10_HUMAN RAN binding protein 10 222 B30.2/SPRY. ovary(1) 1 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) TGTCAAACAGGAAGGGCTGCT 0.607 8 15 --- --- --- --- PASS PSKH1 5681 broad.mit.edu 37 16 67943456 67943456 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:67943456C>T uc002euv.2 + 2 974 c.804C>T c.(802-804)GTC>GTT p.V268V PSKH1_uc010cet.2_Silent_p.V268V NM_006742 NP_006733 P11801 KPSH1_HUMAN protein serine kinase H1 268 Protein kinase. endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane ATP binding|protein serine/threonine kinase activity 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128) CCCCAGAAGTCCTGGTCCGCA 0.567 9 27 --- --- --- --- PASS NFATC3 4775 broad.mit.edu 37 16 68156241 68156241 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:68156241C>T uc002evo.1 + 2 665 c.455C>T c.(454-456)CCT>CTT p.P152L NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.P152L|NFATC3_uc002evm.1_Missense_Mutation_p.P152L|NFATC3_uc002evn.1_Missense_Mutation_p.P152L|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR NM_173165 NP_775188 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, 152 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) CTCTATCTTCCTCTTGAGCCA 0.443 19 51 --- --- --- --- PASS SLC7A6 9057 broad.mit.edu 37 16 68308694 68308694 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:68308694C>T uc002evt.1 + 4 374 c.65C>T c.(64-66)TCC>TTC p.S22F SLC7A6_uc010cfb.1_RNA|SLC7A6_uc002evu.1_Missense_Mutation_p.S22F|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_RNA NM_001076785 NP_001070253 Q92536 YLAT2_HUMAN solute carrier family 7 (cationic amino acid 22 Cytoplasmic (Potential). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|antiporter activity central_nervous_system(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948) ACCAGCCAGTCCCAGGTGGAA 0.577 10 23 --- --- --- --- PASS SLC7A6OS 84138 broad.mit.edu 37 16 68338066 68338066 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:68338066C>T uc002evw.1 - 3 560 c.541G>A c.(541-543)GAT>AAT p.D181N NM_032178 NP_115554 Q96CW6 S7A6O_HUMAN solute carrier family 7, member 6 opposite 181 protein transport cytoplasm|nucleus ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106) CCTGGTCCATCCTCAGACACA 0.473 43 74 --- --- --- --- PASS CIRH1A 84916 broad.mit.edu 37 16 69202755 69202755 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:69202755G>A uc002ews.3 + 17 2072 c.1976G>A c.(1975-1977)AGA>AAA p.R659K CIRH1A_uc002ewt.3_Missense_Mutation_p.R576K|CIRH1A_uc010cfi.2_Missense_Mutation_p.R461K NM_032830 NP_116219 Q969X6 CIR1A_HUMAN cirhin 659 nucleolus protein binding 0 OV - Ovarian serous cystadenocarcinoma(108;0.125) TTGGATGAAAGAACACTCGTG 0.448 21 39 --- --- --- --- PASS PDPR 55066 broad.mit.edu 37 16 70172834 70172834 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:70172834C>T uc002eyf.1 + 11 2180 c.1223C>T c.(1222-1224)CCC>CTC p.P408L CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.P308L|PDPR_uc002eyg.1_Missense_Mutation_p.P136L NM_017990 NP_060460 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory 408 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.124) CATGGTTATCCCTCAGAAAAC 0.483 8 50 --- --- --- --- PASS DDX19A 55308 broad.mit.edu 37 16 70400755 70400755 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:70400755C>T uc002eyv.2 + 9 1082 c.1011C>T c.(1009-1011)ATC>ATT p.I337I DDX19B_uc010vly.1_Intron|DDX19A_uc002eys.2_Silent_p.I338I|DDX19A_uc010cfq.1_Silent_p.I92I|DDX19A_uc010cfr.2_Silent_p.I187I|DDX19A_uc010cfs.2_Silent_p.I160I|DDX19A_uc010vlz.1_Silent_p.I306I|DDX19A_uc010vma.1_Silent_p.I247I NM_018332 NP_060802 Q9NUU7 DD19A_HUMAN DDX19-like protein 337 Helicase C-terminal. mRNA transport|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|RNA binding 0 Ovarian(137;0.221) AAGCCATGATCTTCTGCCATG 0.592 12 49 --- --- --- --- PASS COG4 25839 broad.mit.edu 37 16 70531126 70531126 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:70531126G>A uc002ezc.2 - 11 1490 c.1479C>T c.(1477-1479)TTC>TTT p.F493F COG4_uc002ezb.2_5'UTR|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Silent_p.F493F|COG4_uc002eze.2_Silent_p.F187F NM_015386 NP_056201 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 489 Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 Ovarian(137;0.0694) AACTGTACCTGAAGTCAGACT 0.502 14 48 --- --- --- --- PASS HYDIN 54768 broad.mit.edu 37 16 70891610 70891610 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:70891610A>T uc002ezr.2 - 72 12418 c.12290T>A c.(12289-12291)ATT>AAT p.I4097N HYDIN_uc010cfy.2_RNA NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 4098 ovary(1)|skin(1) 2 Ovarian(137;0.0654) AGCCTTACCAATGAGGAGAGA 0.498 5 26 --- --- --- --- PASS HYDIN 54768 broad.mit.edu 37 16 70891611 70891611 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:70891611T>C uc002ezr.2 - 72 12417 c.12289A>G c.(12289-12291)ATT>GTT p.I4097V HYDIN_uc010cfy.2_RNA NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 4098 ovary(1)|skin(1) 2 Ovarian(137;0.0654) GCCTTACCAATGAGGAGAGAG 0.498 5 27 --- --- --- --- PASS HYDIN 54768 broad.mit.edu 37 16 70917872 70917872 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:70917872G>A uc002ezr.2 - 59 10055 c.9927C>T c.(9925-9927)GTC>GTT p.V3309V NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 3310 ovary(1)|skin(1) 2 Ovarian(137;0.0654) CGGCAGGGTGGACTGCAGGGT 0.522 11 17 --- --- --- --- PASS FTSJD1 55783 broad.mit.edu 37 16 71318220 71318220 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:71318220G>A uc010cga.2 - 3 2010 c.1604C>T c.(1603-1605)TCC>TTC p.S535F FTSJD1_uc002ezy.3_Missense_Mutation_p.S535F|FTSJD1_uc002ezz.3_Missense_Mutation_p.S535F NM_001099642 NP_001093112 Q8IYT2 FTSJ1_HUMAN FtsJ methyltransferase domain containing 1 535 integral to membrane methyltransferase activity|nucleic acid binding skin(1) 1 CCTAAACTTGGAATCCAAATT 0.353 18 23 --- --- --- --- PASS ZNF23 7571 broad.mit.edu 37 16 71483440 71483440 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:71483440G>A uc002faf.2 - 6 1302 c.488C>T c.(487-489)TCT>TTT p.S163F ZNF23_uc002fad.2_Missense_Mutation_p.S105F|ZNF23_uc002fae.2_Missense_Mutation_p.S105F|ZNF23_uc010vmf.1_Missense_Mutation_p.S105F|ZNF23_uc002fag.2_Missense_Mutation_p.S105F|ZNF23_uc002fah.2_Missense_Mutation_p.S163F|ZNF23_uc002fai.2_Missense_Mutation_p.S202F NM_145911 NP_666016 P17027 ZNF23_HUMAN zinc finger protein 23 163 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) TCTTTCCTCAGAATTAATTAT 0.408 10 48 --- --- --- --- PASS CHST4 10164 broad.mit.edu 37 16 71570631 71570631 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:71570631G>A uc002fan.2 + 2 232 c.51G>A c.(49-51)ATG>ATA p.M17I CHST4_uc002fao.2_Missense_Mutation_p.M17I NM_005769 NP_005760 Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) 17 Helical; Signal-anchor for type II membrane protein; (Potential). cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity 0 TTTCCCAGATGGCCATCTTGG 0.493 15 27 --- --- --- --- PASS TAT 6898 broad.mit.edu 37 16 71602689 71602689 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:71602689G>A uc002fap.2 - 11 1248 c.1149C>T c.(1147-1149)TTC>TTT p.F383F NM_000353 NP_000344 P17735 ATTY_HUMAN tyrosine aminotransferase 383 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(2) 2 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) CAAATTCTGGGAAATGTTCCA 0.512 5 16 --- --- --- --- PASS MARVELD3 91862 broad.mit.edu 37 16 71668666 71668666 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:71668666G>A uc002fat.2 + 3 1229 c.1166G>A c.(1165-1167)AGG>AAG p.R389K MARVELD3_uc002fau.2_Intron|MARVELD3_uc010cge.2_Intron NM_052858 NP_443090 Q96A59 MALD3_HUMAN MARVEL domain containing 3 isoform 2 389 Cytoplasmic (Potential). integral to membrane skin(1) 1 Ovarian(137;0.125) CGAAAAGTTAGGAAGCTAAAA 0.498 11 43 --- --- --- --- PASS PMFBP1 83449 broad.mit.edu 37 16 72188302 72188302 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:72188302G>A uc002fcc.3 - 4 394 c.222C>T c.(220-222)TCC>TCT p.S74S PMFBP1_uc002fcd.2_Silent_p.S74S|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_5'UTR NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 74 ovary(2) 2 Ovarian(137;0.179) ACTGTTTACTGGACCCAAATT 0.433 19 33 --- --- --- --- PASS ZFHX3 463 broad.mit.edu 37 16 72822391 72822391 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:72822391C>T uc002fck.2 - 10 10457 c.9784G>A c.(9784-9786)GGA>AGA p.G3262R ZFHX3_uc002fcl.2_Missense_Mutation_p.G2348R NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 3262 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) GGGGCCTCTCCTTTCTCCTTC 0.597 25 32 --- --- --- --- PASS ZFHX3 463 broad.mit.edu 37 16 72829629 72829629 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:72829629C>T uc002fck.2 - 9 7625 c.6952G>A c.(6952-6954)GAT>AAT p.D2318N ZFHX3_uc002fcl.2_Missense_Mutation_p.D1404N NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 2318 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) ATGTATCTATCATTTGTAAGC 0.458 37 64 --- --- --- --- PASS ZFHX3 463 broad.mit.edu 37 16 72991362 72991362 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:72991362G>A uc002fck.2 - 2 3356 c.2683C>T c.(2683-2685)CCC>TCC p.P895S ZFHX3_uc002fcl.2_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 895 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) GGCCCGGCGGGATCCAGCTGG 0.542 15 20 --- --- --- --- PASS CNTNAP4 85445 broad.mit.edu 37 16 76389314 76389314 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:76389314G>A uc002feu.1 + 5 681 c.296G>A c.(295-297)GGA>GAA p.G99E CNTNAP4_uc002fev.1_Missense_Mutation_p.G11E|CNTNAP4_uc010chb.1_Missense_Mutation_p.G74E|CNTNAP4_uc002fex.1_Missense_Mutation_p.G102E|CNTNAP4_uc002few.2_Missense_Mutation_p.G74E NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 99 Extracellular (Potential).|F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 ACTCAAGGGGGATATGGTAGC 0.522 9 33 --- --- --- --- PASS CNTNAP4 85445 broad.mit.edu 37 16 76481942 76481942 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:76481942C>T uc002feu.1 + 7 957 c.572C>T c.(571-573)TCC>TTC p.S191F CNTNAP4_uc002fev.1_Missense_Mutation_p.S103F|CNTNAP4_uc010chb.1_Missense_Mutation_p.S166F|CNTNAP4_uc002fex.1_Missense_Mutation_p.S194F|CNTNAP4_uc002few.2_Missense_Mutation_p.S166F NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 191 Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 GGAAAAAGTTCCCTTCTCTAC 0.343 17 53 --- --- --- --- PASS CNTNAP4 85445 broad.mit.edu 37 16 76523671 76523671 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:76523671C>T uc002feu.1 + 15 2356 c.1971C>T c.(1969-1971)TTC>TTT p.F657F CNTNAP4_uc002fev.1_Silent_p.F521F|CNTNAP4_uc010chb.1_Silent_p.F584F|CNTNAP4_uc002fex.1_Silent_p.F660F|CNTNAP4_uc002few.2_Silent_p.F632F NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 657 Extracellular (Potential).|Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 CTGGGTTTTTCGAGTATGTGG 0.458 9 14 --- --- --- --- PASS C16orf46 123775 broad.mit.edu 37 16 81095315 81095315 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:81095315G>T uc002fgc.3 - 4 898 c.639C>A c.(637-639)CCC>CCA p.P213P C16orf46_uc010chf.2_Silent_p.P213P|C16orf46_uc010vno.1_5'UTR NM_152337 NP_689550 Q6P387 CP046_HUMAN chromosome 16 open reading frame 46 isoform 2 213 0 AAGCCTTCAGGGGAGGCAGAA 0.542 5 70 --- --- --- --- PASS GCSH 2653 broad.mit.edu 37 16 81124258 81124258 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:81124258C>A uc002fgd.2 - 2 273 c.176G>T c.(175-177)TGG>TTG p.W59L GCSH_uc002fge.2_RNA NM_004483 NP_004474 P23434 GCSH_HUMAN glycine cleavage system protein H (aminomethyl 59 glycine cleavage complex|mitochondrion aminomethyltransferase activity 0 Glycine(DB00145) TGTTGTTACCCATTCGTGTTT 0.368 4 27 --- --- --- --- PASS PKD1L2 114780 broad.mit.edu 37 16 81241185 81241185 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:81241185G>A uc002fgh.1 - 5 816 c.816C>T c.(814-816)TCC>TCT p.S272S PKD1L2_uc002fgj.2_Silent_p.S272S NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 272 Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 GCCACGTCAGGGAGATGGTGA 0.468 27 97 --- --- --- --- PASS PKD1L2 114780 broad.mit.edu 37 16 81249906 81249906 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:81249906G>A uc002fgh.1 - 2 407 c.407C>T c.(406-408)TCC>TTC p.S136F PKD1L2_uc002fgj.2_Missense_Mutation_p.S136F NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 136 Extracellular (Potential).|C-type lectin. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 CCACTCAGAGGAAGGGCCTCT 0.647 12 31 --- --- --- --- PASS PKD1L2 114780 broad.mit.edu 37 16 81253771 81253771 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:81253771C>T uc002fgh.1 - 1 205 c.205G>A c.(205-207)GAA>AAA p.E69K PKD1L2_uc002fgj.2_Missense_Mutation_p.E69K NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 69 Extracellular (Potential).|C-type lectin. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 TGGGTGCCTTCGTCCTGAATG 0.562 16 43 --- --- --- --- PASS BCMO1 53630 broad.mit.edu 37 16 81279095 81279095 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:81279095G>A uc002fgn.1 + 2 298 c.80G>A c.(79-81)TGG>TAG p.W27* BCMO1_uc002fgm.1_Nonsense_Mutation_p.W27*|BCMO1_uc010vnp.1_Missense_Mutation_p.M1I NM_017429 NP_059125 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 27 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity 0 ATTCCAGCATGGCTGCAGGGA 0.512 40 77 --- --- --- --- PASS BCMO1 53630 broad.mit.edu 37 16 81303772 81303772 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:81303772C>T uc002fgn.1 + 7 1070 c.852C>T c.(850-852)ATC>ATT p.I284I BCMO1_uc010vnp.1_Silent_p.I215I NM_017429 NP_059125 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 284 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity 0 AGACTTATATCCACATCATCG 0.552 44 74 --- --- --- --- PASS CMIP 80790 broad.mit.edu 37 16 81735267 81735267 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:81735267C>T uc002fgp.2 + 16 1830 c.1758C>T c.(1756-1758)ATC>ATT p.I586I CMIP_uc002fgq.1_Silent_p.I492I|CMIP_uc010vnq.1_Silent_p.I399I|CMIP_uc002fgr.1_Silent_p.I433I NM_198390 NP_938204 Q8IY22 CMIP_HUMAN c-Maf-inducing protein isoform C-mip 552 cytoplasm|nucleus 0 CTGGACAGATCCTGTGCTTGA 0.557 53 94 --- --- --- --- PASS LRRC50 123872 broad.mit.edu 37 16 84188257 84188257 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:84188257A>T uc002fhl.3 + 4 609 c.428A>T c.(427-429)AAA>ATA p.K143I LRRC50_uc010chi.1_RNA NM_178452 NP_848547 Q8NEP3 DAAF1_HUMAN leucine rich repeat containing 50 143 LRR 2. axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding 0 GGAATACAGAAAATCGAAAAC 0.473 Kartagener_syndrome 9 46 --- --- --- --- PASS TAF1C 9013 broad.mit.edu 37 16 84214690 84214690 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:84214690G>A uc002fhn.2 - 11 1573 c.1345C>T c.(1345-1347)CCC>TCC p.P449S TAF1C_uc002fhm.2_Missense_Mutation_p.P356S|TAF1C_uc010vnx.1_Missense_Mutation_p.P423S|TAF1C_uc010vny.1_Missense_Mutation_p.P40S|TAF1C_uc010vnz.1_Missense_Mutation_p.P117S|TAF1C_uc002fho.2_Intron|TAF1C_uc010voa.1_Missense_Mutation_p.P117S|TAF1C_uc002fhp.1_Intron NM_005679 NP_005670 Q15572 TAF1C_HUMAN TBP-associated factor 1C isoform 1 449 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 nucleoplasm DNA binding ovary(1) 1 AGGCATTTGGGGCTGGAGTGC 0.607 13 25 --- --- --- --- PASS CRISPLD2 83716 broad.mit.edu 37 16 84872129 84872129 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:84872129C>T uc010voh.1 + 2 255 c.28C>T c.(28-30)CCC>TCC p.P10S CRISPLD2_uc010vog.1_Missense_Mutation_p.P10S|CRISPLD2_uc002fio.2_Missense_Mutation_p.P10S|CRISPLD2_uc002fik.3_Missense_Mutation_p.P10S|CRISPLD2_uc002fil.2_Missense_Mutation_p.P10S|CRISPLD2_uc002fim.2_Missense_Mutation_p.P10S|CRISPLD2_uc002fin.3_Missense_Mutation_p.P10S NM_031476 NP_113664 Q9H0B8 CRLD2_HUMAN cysteine-rich secretory protein LCCL domain 10 extracellular region|transport vesicle 0 TGGTGTCATCCCCTTGGGGCT 0.622 32 61 --- --- --- --- PASS CRISPLD2 83716 broad.mit.edu 37 16 84906690 84906690 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:84906690C>T uc010voh.1 + 10 1301 c.1074C>T c.(1072-1074)TTC>TTT p.F358F CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fio.2_Silent_p.F357F|CRISPLD2_uc002fim.2_Silent_p.F358F|CRISPLD2_uc002fin.3_Silent_p.F358F NM_031476 NP_113664 Q9H0B8 CRLD2_HUMAN cysteine-rich secretory protein LCCL domain 358 LCCL 1. extracellular region|transport vesicle 0 AGGTCCCCTTCTTCGTGAAGT 0.562 18 41 --- --- --- --- PASS KIAA0513 9764 broad.mit.edu 37 16 85100745 85100745 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:85100745C>T uc002fiu.2 + 2 288 c.68C>T c.(67-69)CCC>CTC p.P23L KIAA0513_uc002fis.3_Missense_Mutation_p.P23L|KIAA0513_uc010voj.1_Missense_Mutation_p.P23L|KIAA0513_uc002fit.2_Missense_Mutation_p.P23L NM_014732 NP_055547 O60268 K0513_HUMAN hypothetical protein LOC9764 23 cytoplasm breast(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.234) ACCTCTTCTCCCCTGGAGGCA 0.647 11 29 --- --- --- --- PASS IRF8 3394 broad.mit.edu 37 16 85946809 85946809 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:85946809C>T uc002fjh.2 + 5 577 c.520C>T c.(520-522)CTT>TTT p.L174F IRF8_uc010chp.2_Intron NM_002163 NP_002154 Q02556 IRF8_HUMAN interferon regulatory factor 8 174 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|ovary(1) 3 Prostate(104;0.0771) GAGTCAGCTCCTTCCAGACTG 0.617 20 42 --- --- --- --- PASS GALNS 2588 broad.mit.edu 37 16 88893133 88893133 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:88893133G>A uc002fly.3 - 10 1205 c.1116C>T c.(1114-1116)CTC>CTT p.L372L GALNS_uc010cid.2_Silent_p.L378L|GALNS_uc002flz.3_Silent_p.L55L NM_000512 NP_000503 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfate sulfatase 372 lysosome metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity large_intestine(2) 2 BRCA - Breast invasive adenocarcinoma(80;0.0496) Hyaluronidase(DB00070) GGCCCTGCAGGAGGGTGGGGA 0.657 5 5 --- --- --- --- PASS ZNF778 197320 broad.mit.edu 37 16 89294367 89294367 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:89294367G>A uc002fmv.2 + 6 1926 c.1587G>A c.(1585-1587)GAG>GAA p.E529E ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Silent_p.E487E|ZNF778_uc010vpg.1_Silent_p.E292E NM_182531 NP_872337 Q96MU6 ZN778_HUMAN zinc finger protein 778 529 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0269) CTCACACAGAGGAGAAGCCCT 0.433 14 64 --- --- --- --- PASS ZNF778 197320 broad.mit.edu 37 16 89294368 89294368 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:89294368G>A uc002fmv.2 + 6 1927 c.1588G>A c.(1588-1590)GAG>AAG p.E530K ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Missense_Mutation_p.E488K|ZNF778_uc010vpg.1_Missense_Mutation_p.E293K NM_182531 NP_872337 Q96MU6 ZN778_HUMAN zinc finger protein 778 530 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0269) TCACACAGAGGAGAAGCCCTT 0.438 15 62 --- --- --- --- PASS SPG7 6687 broad.mit.edu 37 16 89598911 89598911 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:89598911C>T uc002fnj.2 + 9 1212 c.1191C>T c.(1189-1191)GCC>GCT p.A397A SPG7_uc002fni.2_Silent_p.A397A NM_003119 NP_003110 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 isoform 1 397 Mitochondrial matrix (Potential). cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding 0 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) TTAAGGAAGCCCGAGCCCGGG 0.592 5 21 --- --- --- --- PASS CPNE7 27132 broad.mit.edu 37 16 89657454 89657454 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:89657454G>A uc002fnp.2 + 14 1511 c.1381G>A c.(1381-1383)GAT>AAT p.D461N CPNE7_uc002fnq.2_Missense_Mutation_p.D386N NM_014427 NP_055242 Q9UBL6 CPNE7_HUMAN copine 7 isoform b 461 VWFA. lipid metabolic process transporter activity 0 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) CCCTGAGGACGATGAGTGTGA 0.642 9 20 --- --- --- --- PASS CDK10 8558 broad.mit.edu 37 16 89756978 89756978 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:89756978C>T uc010cio.2 + 3 221 c.178C>T c.(178-180)CAG>TAG p.Q60* CDK10_uc002foa.2_Nonsense_Mutation_p.Q54*|CDK10_uc010cip.2_5'UTR|CDK10_uc010vpl.1_Nonsense_Mutation_p.Q54*|CDK10_uc002fob.2_5'UTR|CDK10_uc002fod.2_5'UTR|CDK10_uc002foe.2_5'UTR|CDK10_uc002fof.2_5'UTR|CDK10_uc002fog.3_5'UTR|CDK10_uc002foh.3_5'UTR NM_052988 NP_443714 Q15131 CDK10_HUMAN cyclin-dependent kinase 10 isoform a 60 Protein kinase. negative regulation of cell proliferation|traversing start control point of mitotic cell cycle ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(1) 1 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0276) CCGGGACACCCAGACAGATGA 0.582 19 26 --- --- --- --- PASS ZNF276 92822 broad.mit.edu 37 16 89804583 89804583 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:89804583G>A uc002fos.3 + 11 1871 c.1774G>A c.(1774-1776)GAA>AAA p.E592K ZNF276_uc010ciq.2_Missense_Mutation_p.E378K|ZNF276_uc002fop.2_3'UTR|ZNF276_uc002foq.3_Missense_Mutation_p.E517K|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_Missense_Mutation_p.E378K|ZNF276_uc010cis.2_Missense_Mutation_p.E351K|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_Missense_Mutation_p.E430K|ZNF276_uc010cit.1_3'UTR|FANCA_uc002fou.1_3'UTR|FANCA_uc010vpn.1_3'UTR NM_001113525 NP_001106997 Q8N554 ZN276_HUMAN zinc finger protein 276 isoform a 592 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) CCTGGAGGCGGAACCACCACC 0.647 4 8 --- --- --- --- PASS TUBB3 10381 broad.mit.edu 37 16 90002183 90002183 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:90002183G>A uc002fph.1 + 4 1389 c.1324G>A c.(1324-1326)GAG>AAG p.E442K TUBB3_uc002fpf.2_Missense_Mutation_p.E789K|TUBB3_uc010ciz.1_Missense_Mutation_p.E370K|TUBB3_uc002fpg.1_Missense_Mutation_p.E296K|TUBB3_uc002fpi.1_Missense_Mutation_p.E370K|TUBB3_uc002fpj.1_Missense_Mutation_p.E370K|TUBB3_uc010cjb.1_Missense_Mutation_p.E296K|TUBB3_uc002fpk.1_Missense_Mutation_p.E296K NM_006086 NP_006077 Q13509 TBB3_HUMAN tubulin, beta, 4 442 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(2)|pancreas(1) 3 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) AGACGACGAGGAGGAGTCGGA 0.657 23 34 --- --- --- --- PASS GAS8 2622 broad.mit.edu 37 16 90103747 90103747 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr16:90103747G>A uc002fqi.1 + 7 986 c.864G>A c.(862-864)GAG>GAA p.E288E GAS8_uc010vps.1_Silent_p.E263E|GAS8_uc002fqh.2_Silent_p.E205E|GAS8_uc010vpt.1_3'UTR|GAS8_uc010vpu.1_3'UTR|GAS8_uc010vpv.1_Silent_p.E259E|GAS8_uc010cjc.1_Silent_p.E205E|GAS8_uc010vpw.1_Silent_p.E205E|GAS8_uc002fqj.1_Silent_p.E96E NM_001481 NP_001472 O95995 GAS8_HUMAN growth arrest-specific 8 288 Potential. negative regulation of cell proliferation|sperm motility cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum protein binding ovary(1) 1 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.029) AGGCTCGGGAGGAGATGAGCG 0.582 12 17 --- --- --- --- PASS SCARF1 8578 broad.mit.edu 37 17 1538884 1538884 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:1538884G>A uc002fsz.1 - 11 1711 c.1661C>T c.(1660-1662)TCG>TTG p.S554L SCARF1_uc002fsy.1_Missense_Mutation_p.R542C|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.S468L NM_003693 NP_003684 Q14162 SREC_HUMAN scavenger receptor class F, member 1 isoform 1 554 Pro/Ser-rich.|Cytoplasmic (Potential). cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GGCCTCTGACGACCCTGCCTG 0.667 8 2 --- --- --- --- PASS SCARF1 8578 broad.mit.edu 37 17 1542192 1542192 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:1542192G>A uc002fsz.1 - 8 1322 c.1272C>T c.(1270-1272)ATC>ATT p.I424I SCARF1_uc002fsy.1_Silent_p.I424I|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Silent_p.I338I NM_003693 NP_003684 Q14162 SREC_HUMAN scavenger receptor class F, member 1 isoform 1 424 Helical; (Potential). cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GGCTGCCCGCGATGAGGGCAG 0.627 6 23 --- --- --- --- PASS SCARF1 8578 broad.mit.edu 37 17 1543015 1543015 + Silent SNP G C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:1543015G>C uc002fsz.1 - 7 1211 c.1161C>G c.(1159-1161)GCC>GCG p.A387A SCARF1_uc002fsy.1_Silent_p.A387A|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Intron NM_003693 NP_003684 Q14162 SREC_HUMAN scavenger receptor class F, member 1 isoform 1 387 Extracellular (Potential). cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CATGGAAACCGGCTGGGCAGG 0.602 6 4 --- --- --- --- PASS SCARF1 8578 broad.mit.edu 37 17 1543206 1543206 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:1543206C>T uc002fsz.1 - 6 1189 c.1139G>A c.(1138-1140)AGC>AAC p.S380N SCARF1_uc002fsy.1_Missense_Mutation_p.S380N|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Intron NM_003693 NP_003684 Q14162 SREC_HUMAN scavenger receptor class F, member 1 isoform 1 380 Extracellular (Potential).|EGF-like 6. cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCATCCTTACCTGGGCCCCCA 0.617 11 19 --- --- --- --- PASS PRPF8 10594 broad.mit.edu 37 17 1582317 1582317 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:1582317G>A uc002fte.2 - 11 1707 c.1593C>T c.(1591-1593)ACC>ACT p.T531T NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 531 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GCACCTTGGTGGTGAGCGTTT 0.522 17 69 --- --- --- --- PASS OR1D4 8385 broad.mit.edu 37 17 2966538 2966538 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:2966538G>A uc010vra.1 - 1 418 c.418C>T c.(418-420)CGC>TGC p.R140C NM_003552 NP_003543 olfactory receptor, family 1, subfamily D, 0 GCCACATAGCGATCATACGCC 0.567 5 25 --- --- --- --- PASS OR1D2 4991 broad.mit.edu 37 17 2996075 2996075 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:2996075G>A uc010vrb.1 - 1 216 c.216C>T c.(214-216)TTC>TTT p.F72F NM_002548 NP_002539 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, 72 Helical; Name=2; (Potential). cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity ovary(1) 1 TGGTGACAAAGAAGAGGTCAG 0.532 50 90 --- --- --- --- PASS OR3A4 390756 broad.mit.edu 37 17 3214417 3214417 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:3214417G>A uc002fvi.2 + 1 879 c.813G>A c.(811-813)TCG>TCA p.S271S NR_024128 RecName: Full=Olfactory receptor 3A4; AltName: Full=Olfactory receptor 17-24; Short=OR17-24; ovary(1) 1 TGGAGTCTTCGGACAAGGACA 0.552 12 60 --- --- --- --- PASS CAMKK1 84254 broad.mit.edu 37 17 3779583 3779583 + Silent SNP C A A rs148844492 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:3779583C>A uc002fwt.2 - 10 1024 c.930G>T c.(928-930)ACG>ACT p.T310T CAMKK1_uc002fwu.2_Silent_p.T310T|CAMKK1_uc002fwv.2_Silent_p.T348T NM_172206 NP_757343 Q8N5S9 KKCC1_HUMAN calcium/calmodulin-dependent protein kinase 1 310 Protein kinase. synaptic transmission cytosol|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1) 1 LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176) GGGTTCCCGCCGTGCTGGACA 0.627 4 30 --- --- --- --- PASS ATP2A3 489 broad.mit.edu 37 17 3845967 3845967 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:3845967G>A uc002fxb.1 - 12 1629 c.1478C>T c.(1477-1479)TCC>TTC p.S493F ATP2A3_uc002fwx.1_Missense_Mutation_p.S493F|ATP2A3_uc002fwy.1_Missense_Mutation_p.S493F|ATP2A3_uc002fwz.1_Missense_Mutation_p.S493F|ATP2A3_uc002fxa.1_Missense_Mutation_p.S493F|ATP2A3_uc002fxc.1_Missense_Mutation_p.S493F|ATP2A3_uc002fxd.1_Missense_Mutation_p.S493F NM_174955 NP_777615 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous isoform b 493 Cytoplasmic (By similarity). ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding ovary(3)|breast(1)|central_nervous_system(1) 5 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) CACGGACATGGATTTCCGGTC 0.642 21 31 --- --- --- --- PASS ATP2A3 489 broad.mit.edu 37 17 3846781 3846781 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:3846781C>T uc002fxb.1 - 11 1474 c.1323G>A c.(1321-1323)ACG>ACA p.T441T ATP2A3_uc002fwx.1_Silent_p.T441T|ATP2A3_uc002fwy.1_Silent_p.T441T|ATP2A3_uc002fwz.1_Silent_p.T441T|ATP2A3_uc002fxa.1_Silent_p.T441T|ATP2A3_uc002fxc.1_Silent_p.T441T|ATP2A3_uc002fxd.1_Silent_p.T441T NM_174955 NP_777615 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous isoform b 441 Cytoplasmic (By similarity). ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding ovary(3)|breast(1)|central_nervous_system(1) 5 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) GAGCTGTCTCCGTGGCCTCTC 0.637 28 72 --- --- --- --- PASS ZZEF1 23140 broad.mit.edu 37 17 3966127 3966127 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:3966127G>A uc002fxe.2 - 30 4867 c.4803C>T c.(4801-4803)TCC>TCT p.S1601S ZZEF1_uc002fxh.2_5'UTR|ZZEF1_uc002fxi.2_5'UTR|ZZEF1_uc002fxj.1_Silent_p.S214S NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 1601 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GCTGCCCAAGGGATTCTGCAC 0.488 4 15 --- --- --- --- PASS PLD2 5338 broad.mit.edu 37 17 4722448 4722448 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:4722448C>T uc002fzc.2 + 22 2344 c.2243C>T c.(2242-2244)CCC>CTC p.P748L PLD2_uc002fzd.2_Missense_Mutation_p.P748L NM_002663 NP_002654 O14939 PLD2_HUMAN phospholipase D2 748 Catalytic. cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 5 Choline(DB00122) GGCGGGCACCCCGTCTCGGAG 0.597 9 31 --- --- --- --- PASS PLD2 5338 broad.mit.edu 37 17 4722449 4722449 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:4722449C>T uc002fzc.2 + 22 2345 c.2244C>T c.(2242-2244)CCC>CCT p.P748P PLD2_uc002fzd.2_Silent_p.P748P NM_002663 NP_002654 O14939 PLD2_HUMAN phospholipase D2 748 Catalytic. cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 5 Choline(DB00122) GCGGGCACCCCGTCTCGGAGC 0.597 10 29 --- --- --- --- PASS MINK1 50488 broad.mit.edu 37 17 4799981 4799981 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:4799981C>T uc010vsl.1 + 31 3984 c.3788C>T c.(3787-3789)TCC>TTC p.S1263F MINK1_uc010vsk.1_Missense_Mutation_p.S1234F|MINK1_uc010vsm.1_Missense_Mutation_p.S1243F|MINK1_uc010vsn.1_Missense_Mutation_p.S1226F|MINK1_uc010vso.1_Missense_Mutation_p.S1171F|MINK1_uc010vsp.1_Missense_Mutation_p.S724F|C17orf107_uc010ckr.2_5'Flank|C17orf107_uc002fzl.3_5'Flank NM_153827 NP_722549 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 isoform 3 1263 Mediates interaction with RAP2A.|CNH. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1) 6 TACATCTGCTCCAACCAGATA 0.637 7 9 --- --- --- --- PASS CHRNE 1145 broad.mit.edu 37 17 4805916 4805916 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:4805916C>T uc002fzk.1 - 2 200 c.189G>A c.(187-189)CTG>CTA p.L63L C17orf107_uc002fzl.3_3'UTR NM_000080 NP_000071 Q04844 ACHE_HUMAN nicotinic acetylcholine receptor epsilon 63 Extracellular (Potential). muscle contraction|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 GGTAGCTTACCAGTGAGATGA 0.532 44 82 --- --- --- --- PASS RNF167 26001 broad.mit.edu 37 17 4848088 4848088 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:4848088G>T uc002fzq.2 + 11 1246 c.830G>T c.(829-831)CGG>CTG p.R277L RNF167_uc002fzr.2_Missense_Mutation_p.R277L|RNF167_uc002fzs.2_Missense_Mutation_p.R277L|RNF167_uc002fzt.2_Missense_Mutation_p.R277L|RNF167_uc002fzu.2_Missense_Mutation_p.R276L|RNF167_uc002fzv.2_Missense_Mutation_p.R242L|RNF167_uc002fzx.2_Missense_Mutation_p.R241L|RNF167_uc002fzy.2_Missense_Mutation_p.R76L NM_015528 NP_056343 Q9H6Y7 RN167_HUMAN ring finger protein 167 precursor 277 negative regulation of cell cycle|protein polyubiquitination cytoplasm|endomembrane system|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 CCTGTTCATCGGGGTCCTGGG 0.597 5 57 --- --- --- --- PASS SPAG7 9552 broad.mit.edu 37 17 4863819 4863819 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:4863819G>A uc002gae.2 - 3 210 c.177C>T c.(175-177)TTC>TTT p.F59F SPAG7_uc002gad.2_Silent_p.F8F|SPAG7_uc002gaf.2_Silent_p.F59F NM_004890 NP_004881 O75391 SPAG7_HUMAN sperm associated antigen 7 59 R3H. nucleus nucleic acid binding|protein binding ovary(1)|central_nervous_system(1) 2 TGTCTTGAATGAAATCTGACA 0.522 34 51 --- --- --- --- PASS KIF1C 10749 broad.mit.edu 37 17 4906956 4906956 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:4906956C>T uc002gan.1 + 9 1096 c.770C>T c.(769-771)TCC>TTC p.S257F NM_006612 NP_006603 O43896 KIF1C_HUMAN kinesin family member 1C 257 Kinesin-motor. microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity breast(2) 2 CGAGCCGACTCCTCAGGGGCC 0.622 13 2 --- --- --- --- PASS KIF1C 10749 broad.mit.edu 37 17 4906957 4906957 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:4906957C>T uc002gan.1 + 9 1097 c.771C>T c.(769-771)TCC>TCT p.S257S NM_006612 NP_006603 O43896 KIF1C_HUMAN kinesin family member 1C 257 Kinesin-motor. microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity breast(2) 2 GAGCCGACTCCTCAGGGGCCC 0.622 13 2 --- --- --- --- PASS AIPL1 23746 broad.mit.edu 37 17 6329102 6329102 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:6329102C>T uc002gcp.2 - 6 928 c.833G>A c.(832-834)TGG>TAG p.W278* AIPL1_uc002gcq.2_Nonsense_Mutation_p.W218*|AIPL1_uc002gcr.2_Nonsense_Mutation_p.W215*|AIPL1_uc010clk.2_Nonsense_Mutation_p.W256*|AIPL1_uc010cll.2_Nonsense_Mutation_p.W254*|AIPL1_uc002gcs.2_3'UTR NM_014336 NP_055151 Q9NZN9 AIPL1_HUMAN aryl hydrocarbon receptor interacting 278 TPR 3. protein farnesylation|protein folding|visual perception cytoplasm|nucleus farnesylated protein binding|unfolded protein binding 0 COAD - Colon adenocarcinoma(228;0.141) GGCCTCATTCCACACCTCTGC 0.657 16 12 --- --- --- --- PASS SLC2A4 6517 broad.mit.edu 37 17 7186595 7186595 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:7186595G>A uc002gfp.2 + 2 265 c.65G>A c.(64-66)GGG>GAG p.G22E SLC2A4_uc002gfo.2_Missense_Mutation_p.G22E|SLC2A4_uc010cmd.2_RNA NM_001042 NP_001033 P14672 GTR4_HUMAN glucose transporter 4 22 Cytoplasmic (Potential). carbohydrate metabolic process|glucose homeostasis|glucose import external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm D-glucose transmembrane transporter activity|protein binding 0 CGAGTGACTGGGACCCTGGTC 0.567 22 31 --- --- --- --- PASS KCTD11 147040 broad.mit.edu 37 17 7256759 7256759 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:7256759C>T uc002gge.3 + 1 1552 c.498C>T c.(496-498)CTC>CTT p.L166L TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank NM_001002914 NP_001002914 Q693B1 KCD11_HUMAN potassium channel tetramerisation domain 166 cell cycle|regulation of growth voltage-gated potassium channel complex voltage-gated potassium channel activity 0 Prostate(122;0.157) CCGTGGAACTCCCCGAGGTGG 0.677 3 11 --- --- --- --- PASS SPEM1 374768 broad.mit.edu 37 17 7324589 7324589 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:7324589G>A uc002ggv.2 + 3 620 c.595G>A c.(595-597)GGC>AGC p.G199S FGF11_uc010vtw.1_Intron NM_199339 NP_955371 Q8N4L4 SPEM1_HUMAN spermatid maturation 1 199 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|integral to membrane 0 Prostate(122;0.173) GTCCGAGCTGGGCCTAAGGGC 0.637 11 34 --- --- --- --- PASS EIF4A1 1973 broad.mit.edu 37 17 7476179 7476179 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:7476179C>T uc002gho.1 + 9 1345 c.20C>T c.(19-21)TCC>TTC p.S7F EIF4A1_uc002ghr.1_Missense_Mutation_p.S7F|EIF4A1_uc002ghq.1_Missense_Mutation_p.S7F|EIF4A1_uc002ghp.1_Missense_Mutation_p.S7F|SNORA48_uc002ghs.1_5'Flank NM_001416 NP_001407 P60842 IF4A1_HUMAN eukaryotic translation initiation factor 4A 7 nuclear-transcribed mRNA poly(A) tail shortening cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity ovary(1) 1 AGCCAGGATTCCCGGTAAGAA 0.607 34 59 --- --- --- --- PASS DNAH2 146754 broad.mit.edu 37 17 7678246 7678246 + Silent SNP A C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:7678246A>C uc002giu.1 + 28 4685 c.4671A>C c.(4669-4671)CCA>CCC p.P1557P NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 1557 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CTGTGCAGCCACACCTCAAAA 0.517 11 24 --- --- --- --- PASS DNAH2 146754 broad.mit.edu 37 17 7705318 7705318 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:7705318C>T uc002giu.1 + 57 8969 c.8955C>T c.(8953-8955)CTC>CTT p.L2985L DNAH2_uc010cnm.1_5'Flank NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 2985 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) ACCTGGAACTCCTGTCTGGAT 0.512 16 27 --- --- --- --- PASS KDM6B 23135 broad.mit.edu 37 17 7749997 7749997 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:7749997C>T uc002giw.1 + 8 1026 c.650C>T c.(649-651)CCC>CTC p.P217L KDM6B_uc002gix.2_5'Flank NM_001080424 NP_001073893 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 217 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|pancreas(1) 2 CTCTCAGGCCCCTCAGGGGAG 0.642 12 32 --- --- --- --- PASS ALOX15B 247 broad.mit.edu 37 17 7945806 7945806 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:7945806C>T uc002gju.2 + 4 685 c.569C>T c.(568-570)TCT>TTT p.S190F ALOX15B_uc002gjv.2_Missense_Mutation_p.S190F|ALOX15B_uc002gjw.2_Missense_Mutation_p.S190F|ALOX15B_uc010vun.1_Missense_Mutation_p.S190F|ALOX15B_uc010cnp.2_5'UTR NM_001141 NP_001132 O15296 LX15B_HUMAN arachidonate 15-lipoxygenase, second type 190 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity ovary(1) 1 CAGGCTGGCTCTGCGTGAGGA 0.547 9 30 --- --- --- --- PASS PER1 5187 broad.mit.edu 37 17 8053942 8053942 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:8053942G>A uc002gkd.2 - 2 321 c.83C>T c.(82-84)CCT>CTT p.P28L PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Intron|PER1_uc010vus.1_Missense_Mutation_p.P28L NM_002616 NP_002607 O15534 PER1_HUMAN period 1 28 circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 TGGGGGCCCAGGGGATGGGAC 0.652 T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes 15 25 --- --- --- --- PASS C17orf68 80169 broad.mit.edu 37 17 8138499 8138499 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:8138499C>T uc002gkq.3 - 8 1370 c.1311G>A c.(1309-1311)CAG>CAA p.Q437Q C17orf68_uc010cnv.2_RNA NM_025099 NP_079375 Q2NKJ3 CTC1_HUMAN alpha accessory factor 132 437 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding 0 CCCCAGGCTTCTGACGAGAGA 0.617 49 17 --- --- --- --- PASS MFSD6L 162387 broad.mit.edu 37 17 8700739 8700739 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:8700739G>A uc002glp.1 - 1 1848 c.1700C>T c.(1699-1701)TCT>TTT p.S567F NM_152599 NP_689812 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 567 integral to membrane central_nervous_system(1) 1 CCCCTGCTCAGAGTCACTGGT 0.557 13 36 --- --- --- --- PASS PIK3R5 23533 broad.mit.edu 37 17 8785136 8785136 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:8785136G>A uc002glt.2 - 16 2335 c.2268C>T c.(2266-2268)CTC>CTT p.L756L PIK3R5_uc010vuz.1_Silent_p.L756L|PIK3R5_uc002glu.3_Silent_p.L370L NM_014308 NP_055123 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 756 platelet activation cytosol|membrane|nucleus breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 AGGCCTTGTTGAGGTTCACGG 0.612 13 28 --- --- --- --- PASS WDR16 146845 broad.mit.edu 37 17 9538775 9538775 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:9538775G>A uc002gly.2 + 11 1443 c.1374G>A c.(1372-1374)AAG>AAA p.K458K WDR16_uc002glz.2_Silent_p.K390K|WDR16_uc010coc.2_Silent_p.K468K NM_145054 NP_659491 Q8N1V2 WDR16_HUMAN WD40-repeat protein upregulated in HCC isoform 458 cytoplasm|intracellular membrane-bounded organelle protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 AGGCCCTGAAGGAACACAAGT 0.532 15 22 --- --- --- --- PASS MYH13 8735 broad.mit.edu 37 17 10227347 10227347 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:10227347C>T uc002gmk.1 - 23 3016 c.2926G>A c.(2926-2928)GAG>AAG p.E976K MYH13_uc010vve.1_Missense_Mutation_p.E74K NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 976 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 ACCTTGTTCTCTGTGGCATGC 0.488 15 21 --- --- --- --- PASS MYH13 8735 broad.mit.edu 37 17 10235428 10235428 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:10235428G>A uc002gmk.1 - 20 2376 c.2286C>T c.(2284-2286)TTC>TTT p.F762F NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 762 Myosin head-like.|Actin-binding (By similarity). muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TGGTGTTGCCGAACCTGAACT 0.547 27 29 --- --- --- --- PASS MYH13 8735 broad.mit.edu 37 17 10247140 10247140 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:10247140G>A uc002gmk.1 - 16 1961 c.1871C>T c.(1870-1872)TCC>TTC p.S624F MYH13_uc010vvf.1_Missense_Mutation_p.S299F NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 624 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 AGCATAGTTGGAAAAAAGGAA 0.488 24 22 --- --- --- --- PASS MYH13 8735 broad.mit.edu 37 17 10261144 10261144 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:10261144C>T uc002gmk.1 - 8 736 c.646G>A c.(646-648)GGA>AGA p.G216R NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 216 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TCTAGGGTTCCCTAATAATAA 0.458 11 46 --- --- --- --- PASS MYH8 4626 broad.mit.edu 37 17 10296201 10296201 + Nonsense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:10296201C>A uc002gmm.2 - 37 5505 c.5410G>T c.(5410-5412)GAG>TAG p.E1804* uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1804 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 GCCAGCTGCTCGGCCTCATCT 0.572 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 4 68 --- --- --- --- PASS MYH8 4626 broad.mit.edu 37 17 10304884 10304884 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:10304884C>T uc002gmm.2 - 23 3002 c.2907G>A c.(2905-2907)AAG>AAA p.K969K uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 969 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 CATGTTTCTCCTTCTCAACCT 0.408 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 38 122 --- --- --- --- PASS MYH4 4622 broad.mit.edu 37 17 10351386 10351386 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:10351386C>T uc002gmn.2 - 34 4825 c.4714G>A c.(4714-4716)GTG>ATG p.V1572M uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1572 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 TCAGATTTCACCTGATTTAGC 0.373 18 27 --- --- --- --- PASS MYH1 4619 broad.mit.edu 37 17 10399723 10399723 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:10399723G>A uc002gmo.2 - 34 4894 c.4800C>T c.(4798-4800)TCC>TCT p.S1600S uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1600 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TGCTCTGCATGGACTCCACGA 0.438 38 65 --- --- --- --- PASS MYH1 4619 broad.mit.edu 37 17 10405195 10405195 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:10405195G>A uc002gmo.2 - 25 3239 c.3145C>T c.(3145-3147)CGG>TGG p.R1049W uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1049 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 AGATCCATCCGGATTTTCTTT 0.348 17 13 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10427837 10427837 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:10427837G>A uc010coi.2 - 35 5249 c.5121C>T c.(5119-5121)ATC>ATT p.I1707I uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.I1707I|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1707 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CCTGTTCTGCGATTTTTCTGC 0.542 22 37 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10429160 10429160 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:10429160C>T uc010coi.2 - 31 4349 c.4221G>A c.(4219-4221)GAG>GAA p.E1407E uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.E1407E|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1407 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CTACATGTTCCTCAGCTGCCT 0.478 5 26 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10438597 10438597 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:10438597G>A uc010coi.2 - 18 2188 c.2060C>T c.(2059-2061)CCT>CTT p.P687L uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.P687L|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 687 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TTTCTTACCAGGAGTTTTTGT 0.423 7 18 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10443353 10443353 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:10443353C>T uc010coi.2 - 12 1167 c.1039G>A c.(1039-1041)GAA>AAA p.E347K uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E347K|MYH2_uc010coj.2_Missense_Mutation_p.E347K NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 347 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 ACCTTTTCTTCATTAGTAAAG 0.423 21 74 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10447437 10447437 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:10447437C>T uc010coi.2 - 6 641 c.513G>A c.(511-513)GAG>GAA p.E171E uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.E171E|MYH2_uc010coj.2_Silent_p.E171E NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 171 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TTGACTGATTCTCTCGGTCTA 0.308 14 32 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10447438 10447438 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:10447438T>C uc010coi.2 - 6 640 c.512A>G c.(511-513)GAG>GGG p.E171G uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E171G|MYH2_uc010coj.2_Missense_Mutation_p.E171G NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 171 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TGACTGATTCTCTCGGTCTAC 0.313 12 32 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11572550 11572550 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:11572550C>T uc002gne.2 + 16 2969 c.2901C>T c.(2899-2901)TCC>TCT p.S967S DNAH9_uc010coo.2_Silent_p.S261S NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 967 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CACGGCTTTCCCCACAAAATG 0.542 16 45 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11572867 11572867 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:11572867C>T uc002gne.2 + 17 3177 c.3109C>T c.(3109-3111)CCG>TCG p.P1037S DNAH9_uc010coo.2_Missense_Mutation_p.P331S NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1037 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CATCCTCACTCCGGAAGAAAT 0.502 24 64 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11648319 11648319 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:11648319G>A uc002gne.2 + 31 6385 c.6317G>A c.(6316-6318)AGG>AAG p.R2106K DNAH9_uc010coo.2_Missense_Mutation_p.R1400K NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2106 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GTCCCCCGGAGGAGAGACCCC 0.532 12 48 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11809111 11809111 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:11809111G>A uc002gne.2 + 61 11802 c.11734G>A c.(11734-11736)GAT>AAT p.D3912N DNAH9_uc010coo.2_Missense_Mutation_p.D3206N|DNAH9_uc002gnf.2_Missense_Mutation_p.D224N|DNAH9_uc010vvh.1_Missense_Mutation_p.D265N NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 3912 AAA 6 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CCCACTGAAGGATGTAGAAAG 0.498 10 19 --- --- --- --- PASS MYOCD 93649 broad.mit.edu 37 17 12655844 12655844 + Silent SNP G A A rs150316964 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:12655844G>A uc002gnn.2 + 10 1538 c.1239G>A c.(1237-1239)CCG>CCA p.P413P MYOCD_uc002gno.2_Silent_p.P413P|MYOCD_uc002gnp.1_Silent_p.P317P|MYOCD_uc002gnq.2_Silent_p.P132P NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 413 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) ACCCAGTGCCGAACTTTGGGG 0.552 16 41 --- --- --- --- PASS MYOCD 93649 broad.mit.edu 37 17 12656034 12656034 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:12656034G>A uc002gnn.2 + 10 1728 c.1429G>A c.(1429-1431)GAT>AAT p.D477N MYOCD_uc002gno.2_Missense_Mutation_p.D477N|MYOCD_uc002gnp.1_Missense_Mutation_p.D381N|MYOCD_uc002gnq.2_Missense_Mutation_p.D196N NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 477 Ser-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CACCTTCAATGATGCCTCCCC 0.627 19 35 --- --- --- --- PASS HS3ST3A1 9955 broad.mit.edu 37 17 13399983 13399983 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:13399983G>A uc002gob.1 - 2 1550 c.752C>T c.(751-753)TCG>TTG p.S251L NM_006042 NP_006033 Q9Y663 HS3SA_HUMAN heparan sulfate D-glucosaminyl 251 PAPS and substrate.|Lumenal (Potential). Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity ovary(1)|central_nervous_system(1) 2 all_lung(20;0.114) UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CGTGTAGTCCGAGATGGCCCT 0.637 5 25 --- --- --- --- PASS NCOR1 9611 broad.mit.edu 37 17 16024534 16024534 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:16024534C>T uc002gpo.2 - 16 1924 c.1684G>A c.(1684-1686)GAG>AAG p.E562K NCOR1_uc002gpn.2_Missense_Mutation_p.E562K|NCOR1_uc002gpp.1_Missense_Mutation_p.E453K|NCOR1_uc002gpr.2_Missense_Mutation_p.E453K NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 562 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TCTCTTTCCTCAGTTTCTTCT 0.488 17 36 --- --- --- --- PASS ZNF624 57547 broad.mit.edu 37 17 16537184 16537184 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:16537184G>A uc010cpi.1 - 5 451 c.368C>T c.(367-369)CCC>CTC p.P123L NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 123 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) ACCAGGATAGGGAATTCTTGA 0.403 3 21 --- --- --- --- PASS TOP3A 7156 broad.mit.edu 37 17 18194300 18194300 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:18194300G>A uc002gsx.1 - 12 1552 c.1323C>T c.(1321-1323)TTC>TTT p.F441F TOP3A_uc010cpz.1_5'UTR|TOP3A_uc010vxr.1_5'UTR|TOP3A_uc002gsw.1_Intron|TOP3A_uc010vxs.1_Silent_p.F339F NM_004618 NP_004609 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 441 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding skin(3) 3 AGCAAGCCAGGAAATGGCGAA 0.537 14 41 --- --- --- --- PASS SMCR8 140775 broad.mit.edu 37 17 18219614 18219614 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:18219614G>A uc002gsy.3 + 1 1021 c.511G>A c.(511-513)GAG>AAG p.E171K NM_144775 NP_658988 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, 171 central_nervous_system(1) 1 GCAGTTCCAGGAGCTTTCAGC 0.488 13 38 --- --- --- --- PASS SHMT1 6470 broad.mit.edu 37 17 18257060 18257060 + Silent SNP G A A rs150099862 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:18257060G>A uc002gta.2 - 3 358 c.168C>T c.(166-168)TTC>TTT p.F56F SHMT1_uc002gtb.2_Silent_p.F56F|SHMT1_uc010cqb.2_Silent_p.F56F|SHMT1_uc010vxt.1_5'UTR|SHMT1_uc002gtd.1_Silent_p.F56F|SHMT1_uc010vxu.1_Silent_p.F56F NM_004169 NP_004160 P34896 GLYC_HUMAN serine hydroxymethyltransferase 1 (soluble) 56 carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process cytosol|nucleus glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding ovary(1) 1 Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CTCGGCTGGCGAAATTCTCCG 0.468 59 55 --- --- --- --- PASS FBXW10 10517 broad.mit.edu 37 17 18647829 18647829 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:18647829G>A uc002guk.2 + 1 504 c.272G>A c.(271-273)CGG>CAG p.R91Q FBXW10_uc002guj.2_Missense_Mutation_p.R91Q|FBXW10_uc002gul.2_Missense_Mutation_p.R91Q|FBXW10_uc010cqh.1_Missense_Mutation_p.R91Q NM_031456 NP_113644 Q5XX13 FBW10_HUMAN F-box and WD-40 domain protein 10 91 ovary(1) 1 AACAGGTCCCGGATCAACCTC 0.393 25 94 --- --- --- --- PASS SLC47A1 55244 broad.mit.edu 37 17 19452969 19452969 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:19452969G>A uc002gvy.1 + 5 563 c.477G>A c.(475-477)ACG>ACA p.T159T SLC47A1_uc010vyy.1_RNA|SLC47A1_uc002gvx.2_Silent_p.T159T|SLC47A1_uc010vyz.1_Silent_p.T136T|SLC47A1_uc010cqp.1_Silent_p.T159T|SLC47A1_uc010cqq.1_Missense_Mutation_p.R11Q NM_018242 NP_060712 Q96FL8 S47A1_HUMAN solute carrier family 47, member 1 159 Helical; (Potential). integral to membrane|plasma membrane drug:hydrogen antiporter activity 0 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) CCTATGTCACGATCTTCATTC 0.448 15 71 --- --- --- --- PASS ULK2 9706 broad.mit.edu 37 17 19698953 19698953 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:19698953C>T uc002gwm.3 - 20 2592 c.2083G>A c.(2083-2085)GAA>AAA p.E695K ULK2_uc002gwn.2_Missense_Mutation_p.E695K NM_001142610 NP_001136082 Q8IYT8 ULK2_HUMAN unc-51-like kinase 2 695 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity skin(2)|large_intestine(1)|stomach(1) 4 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) ATTGGTCGTTCTGTATTTAAA 0.308 7 96 --- --- --- --- PASS MAP2K3 5606 broad.mit.edu 37 17 21208395 21208395 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:21208395G>A uc002gys.2 + 9 994 c.729G>A c.(727-729)AAG>AAA p.K243K MAP2K3_uc002gyt.2_Silent_p.K214K|MAP2K3_uc002gyu.2_Silent_p.K214K NM_145109 NP_659731 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 243 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) TGAACCAGAAGGGCTACAATG 0.637 22 156 --- --- --- --- PASS MAP2K3 5606 broad.mit.edu 37 17 21217475 21217475 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:21217475C>T uc002gys.2 + 12 1242 c.977C>T c.(976-978)ACC>ATC p.T326I MAP2K3_uc002gyt.2_Missense_Mutation_p.T297I|MAP2K3_uc002gyu.2_Missense_Mutation_p.T297I NM_145109 NP_659731 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 326 activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) CCCTTCTTCACCTTGCACAAA 0.612 45 332 --- --- --- --- PASS MAP2K3 5606 broad.mit.edu 37 17 21217476 21217476 + Silent SNP C T T rs116715468 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:21217476C>T uc002gys.2 + 12 1243 c.978C>T c.(976-978)ACC>ACT p.T326T MAP2K3_uc002gyt.2_Silent_p.T297T|MAP2K3_uc002gyu.2_Silent_p.T297T NM_145109 NP_659731 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 326 activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) CCTTCTTCACCTTGCACAAAA 0.617 43 337 --- --- --- --- PASS NOS2 4843 broad.mit.edu 37 17 26107882 26107882 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:26107882G>A uc002gzu.2 - 9 1179 c.915C>T c.(913-915)GTC>GTT p.V305V NOS2_uc010crh.1_Silent_p.V305V|NOS2_uc010wab.1_Silent_p.V305V NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 305 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) GGACCAGGGGGACCACATCGA 0.607 5 23 --- --- --- --- PASS SLC46A1 113235 broad.mit.edu 37 17 26731817 26731817 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:26731817C>T uc002hbf.1 - 2 994 c.898G>A c.(898-900)GAC>AAC p.D300N SLC46A1_uc002hbg.1_Missense_Mutation_p.D300N|SLC46A1_uc010wak.1_Missense_Mutation_p.D300N NM_080669 NP_542400 Q96NT5 PCFT_HUMAN proton-coupled folate transporter 300 cellular iron ion homeostasis|folic acid metabolic process apical plasma membrane|cytoplasm|integral to membrane folic acid binding|folic acid transporter activity|heme transporter activity 0 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Folic Acid(DB00158) AGTTTGGAGTCCCAGCAGAGG 0.557 20 39 --- --- --- --- PASS SLC46A1 113235 broad.mit.edu 37 17 26731818 26731818 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:26731818C>T uc002hbf.1 - 2 993 c.897G>A c.(895-897)TGG>TGA p.W299* SLC46A1_uc002hbg.1_Nonsense_Mutation_p.W299*|SLC46A1_uc010wak.1_Nonsense_Mutation_p.W299* NM_080669 NP_542400 Q96NT5 PCFT_HUMAN proton-coupled folate transporter 299 cellular iron ion homeostasis|folic acid metabolic process apical plasma membrane|cytoplasm|integral to membrane folic acid binding|folic acid transporter activity|heme transporter activity 0 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Folic Acid(DB00158) GTTTGGAGTCCCAGCAGAGGG 0.552 20 39 --- --- --- --- PASS ALDOC 230 broad.mit.edu 37 17 26902293 26902293 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:26902293G>A uc002hbp.2 - 3 317 c.172C>T c.(172-174)CTG>TTG p.L58L ALDOC_uc010cro.2_Silent_p.L58L NM_005165 NP_005156 P09972 ALDOC_HUMAN fructose-bisphosphate aldolase C 58 fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis cytosol cytoskeletal protein binding|fructose-bisphosphate aldolase activity ovary(1) 1 Lung NSC(42;0.00431) TGGCGGTACAGCCGGCGGTTC 0.537 OREG0024278 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 25 --- --- --- --- PASS SUPT6H 6830 broad.mit.edu 37 17 27016513 27016513 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:27016513C>T uc002hby.2 + 25 3366 c.3276C>T c.(3274-3276)ATC>ATT p.I1092I SUPT6H_uc010crt.2_Silent_p.I1092I|SUPT6H_uc002hbz.1_Silent_p.I24I NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 1092 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) TTGAAGAAATCTTGGAAAACC 0.542 18 19 --- --- --- --- PASS SEZ6 124925 broad.mit.edu 37 17 27291092 27291092 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:27291092C>T uc002hdp.2 - 5 1322 c.1128G>A c.(1126-1128)GGG>GGA p.G376G SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Silent_p.G376G|SEZ6_uc002hdq.1_Silent_p.G251G|SEZ6_uc010crz.1_Silent_p.G376G NM_178860 NP_849191 Q53EL9 SEZ6_HUMAN seizure related 6 homolog isoform 1 376 Sushi 1.|Extracellular (Potential). integral to membrane|plasma membrane large_intestine(1)|central_nervous_system(1) 2 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) GGGCACTACCCCCTGGGTGGA 0.587 6 7 --- --- --- --- PASS PIPOX 51268 broad.mit.edu 37 17 27371896 27371896 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:27371896G>A uc002hdr.1 + 2 460 c.134G>A c.(133-135)CGA>CAA p.R45Q NM_016518 NP_057602 Q9P0Z9 SOX_HUMAN pipecolic acid oxidase 45 tetrahydrofolate metabolic process peroxisome L-pipecolate oxidase activity|sarcosine oxidase activity 0 Lung NSC(42;0.015) Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) Glycine(DB00145) CCACACTCCCGAGGAAGCTCC 0.502 18 39 --- --- --- --- PASS TAOK1 57551 broad.mit.edu 37 17 27822697 27822697 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:27822697C>T uc002hdz.1 + 11 1145 c.951C>T c.(949-951)TTC>TTT p.F317F TAOK1_uc010wbe.1_Silent_p.F317F|TAOK1_uc010wbf.1_Silent_p.F317F|TAOK1_uc002heb.1_Silent_p.F143F NM_020791 NP_065842 Q7L7X3 TAOK1_HUMAN TAO kinase 1 317 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Colorectal(6;0.198) AACTCCTTTTCCAGGAGGCAC 0.403 23 30 --- --- --- --- PASS TAOK1 57551 broad.mit.edu 37 17 27822698 27822698 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:27822698C>T uc002hdz.1 + 11 1146 c.952C>T c.(952-954)CAG>TAG p.Q318* TAOK1_uc010wbe.1_Nonsense_Mutation_p.Q318*|TAOK1_uc010wbf.1_Nonsense_Mutation_p.Q318*|TAOK1_uc002heb.1_Nonsense_Mutation_p.Q144* NM_020791 NP_065842 Q7L7X3 TAOK1_HUMAN TAO kinase 1 318 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Colorectal(6;0.198) ACTCCTTTTCCAGGAGGCACA 0.408 24 29 --- --- --- --- PASS NF1 4763 broad.mit.edu 37 17 29483114 29483114 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:29483114C>T uc002hgg.2 + 2 507 c.174C>T c.(172-174)CTC>CTT p.L58L NF1_uc002hge.1_Silent_p.L58L|NF1_uc002hgf.1_Silent_p.L58L|NF1_uc002hgh.2_Silent_p.L58L|NF1_uc010csn.1_5'UTR NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 58 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(5)|p.?(3) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TAAGCGGCCTCACTACTATTT 0.338 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 10 35 --- --- --- --- PASS ZNF207 7756 broad.mit.edu 37 17 30678826 30678826 + Missense_Mutation SNP T G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:30678826T>G uc002hhh.3 + 2 211 c.63T>G c.(61-63)GAT>GAG p.D21E ZNF207_uc002hhj.3_Missense_Mutation_p.D21E|ZNF207_uc002hhi.3_Missense_Mutation_p.D21E|ZNF207_uc010csz.2_Missense_Mutation_p.D24E|ZNF207_uc002hhk.1_Missense_Mutation_p.D21E NM_003457 NP_003448 O43670 ZN207_HUMAN zinc finger protein 207 isoform a 21 C2H2-type 1. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) GAGATTTTGATGATGAGAAGA 0.333 3 24 --- --- --- --- PASS SPACA3 124912 broad.mit.edu 37 17 31324761 31324761 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:31324761G>A uc002hhs.1 + 5 688 c.613G>A c.(613-615)GAC>AAC p.D205N SPACA3_uc010cte.1_RNA NM_173847 NP_776246 Q8IXA5 SACA3_HUMAN sperm acrosome associated 3 205 Extracellular (Potential). cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.193) CCAGGGAAAAGACCTCACTGA 0.547 4 43 --- --- --- --- PASS ACCN1 40 broad.mit.edu 37 17 31355373 31355373 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:31355373G>A uc002hhu.2 - 4 1146 c.872C>T c.(871-873)TCC>TTC p.S291F ACCN1_uc002hht.2_Missense_Mutation_p.S342F NM_001094 NP_001085 Q16515 ACCN1_HUMAN amiloride-sensitive cation channel 1, neuronal 291 Extracellular (By similarity). central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Breast(31;0.042)|Ovarian(249;0.202) UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215) Amiloride(DB00594) CATCTCTGAGGATCGGCACTC 0.542 18 22 --- --- --- --- PASS ACCN1 40 broad.mit.edu 37 17 32483157 32483157 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:32483157G>A uc002hhu.2 - 1 669 c.395C>T c.(394-396)TCC>TTC p.S132F NM_001094 NP_001085 Q16515 ACCN1_HUMAN amiloride-sensitive cation channel 1, neuronal 132 Extracellular (By similarity). central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Breast(31;0.042)|Ovarian(249;0.202) UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215) Amiloride(DB00594) CTCCAGCACGGAGGGGTCAGC 0.607 13 40 --- --- --- --- PASS AMAC1 146861 broad.mit.edu 37 17 33521009 33521009 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:33521009G>A uc002hjd.2 - 1 404 c.318C>T c.(316-318)TTC>TTT p.F106F NM_152462 NP_689675 Q8N808 AMAC1_HUMAN acyl-malonyl condensing enzyme 1 106 DUF6 1.|Helical; (Potential). integral to membrane 0 BRCA - Breast invasive adenocarcinoma(366;0.0917) GCAGGGCACAGAAGAAGGCCC 0.587 34 91 --- --- --- --- PASS MMP28 79148 broad.mit.edu 37 17 34095373 34095373 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:34095373G>A uc002hjy.1 - 8 1135 c.876C>T c.(874-876)GCC>GCT p.A292A MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA NM_024302 NP_077278 Q9H239 MMP28_HUMAN matrix metalloproteinase 28 isoform 1 292 proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GGAGCTGGACGGCCACTGAGC 0.552 12 22 --- --- --- --- PASS MMP28 79148 broad.mit.edu 37 17 34105923 34105923 + Missense_Mutation SNP T G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:34105923T>G uc002hjy.1 - 3 607 c.348A>C c.(346-348)AAA>AAC p.K116N MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA|MMP28_uc002hka.2_Missense_Mutation_p.K116N NM_024302 NP_077278 Q9H239 MMP28_HUMAN matrix metalloproteinase 28 isoform 1 116 proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TACGCCTCATTTTGGTCCGGT 0.512 31 35 --- --- --- --- PASS C17orf66 256957 broad.mit.edu 37 17 34190509 34190509 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:34190509G>A uc002hke.1 - 7 771 c.622C>T c.(622-624)CTG>TTG p.L208L C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Silent_p.L168L|C17orf66_uc010wcm.1_Silent_p.L174L NM_152781 NP_689994 A2RTY3 CQ066_HUMAN hypothetical protein LOC256957 208 binding breast(2)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) TACTCACCCAGGATGGCCAGG 0.468 11 23 --- --- --- --- PASS TBC1D3 729873 broad.mit.edu 37 17 36288238 36288238 + Silent SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:36288238C>A uc002hoo.2 + 6 481 c.324C>A c.(322-324)GGC>GGA p.G108G TBC1D3_uc002hop.2_RNA|TBC1D3_uc010wdj.1_Silent_p.G28G|TBC1D3_uc010cvf.1_Silent_p.G108G|TBC1D3_uc002hoq.2_Silent_p.G108G|TBC1D3_uc010wdk.1_Silent_p.G169G|uc002hpl.2_5'Flank|uc002hor.2_5'Flank NM_032258 NP_115634 Q8IZP1 TBC3A_HUMAN TBC1 domain family, member 3F 108 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 Breast(7;2.97e-12) Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ACATCCGGGGCCCGATGTGGT 0.562 43 189 --- --- --- --- PASS GPR179 440435 broad.mit.edu 37 17 36484158 36484158 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:36484158C>T uc002hpz.2 - 11 5315 c.5294G>A c.(5293-5295)GGG>GAG p.G1765E NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 1765 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) ACCCACACTCCCCCAGGGACA 0.577 6 28 --- --- --- --- PASS CDK12 51755 broad.mit.edu 37 17 37687305 37687305 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:37687305C>T uc010cvv.2 + 14 4795 c.4209C>T c.(4207-4209)CTC>CTT p.L1403L CDK12_uc002hrw.3_Silent_p.L1394L NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Cdc2-related kinase, arginine/serine-rich 1403 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1) 19 ACCAGGACCTCCGTTTTGCCA 0.572 TCGA Ovarian(9;0.13) 16 28 --- --- --- --- PASS MSL1 339287 broad.mit.edu 37 17 38285676 38285676 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:38285676C>T uc002hub.2 + 3 587 c.568C>T c.(568-570)CGG>TGG p.R190W MSL1_uc002hua.3_Missense_Mutation_p.R128W|MSL1_uc002huc.2_Missense_Mutation_p.R128W|MSL1_uc002hud.2_5'Flank NM_001012241 NP_001012241 Q68DK7 MSL1_HUMAN hampin 391 histone H4-K16 acetylation MSL complex 0 AGAAAAGCCCCGGTCTTCAGT 0.493 21 56 --- --- --- --- PASS RAPGEFL1 51195 broad.mit.edu 37 17 38348886 38348886 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:38348886G>A uc010cwu.1 + 12 1557 c.1067G>A c.(1066-1068)CGA>CAA p.R356Q RAPGEFL1_uc010wfd.1_Missense_Mutation_p.R292Q NM_016339 NP_057423 Q9UHV5 RPGFL_HUMAN Rap guanine nucleotide exchange factor 562 Ras-GEF. G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction intracellular|membrane fraction guanyl-nucleotide exchange factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 AAAAGCTACCGAGAAGTGATC 0.532 106 179 --- --- --- --- PASS WIPF2 147179 broad.mit.edu 37 17 38421050 38421050 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:38421050C>T uc002hug.1 + 5 862 c.622C>T c.(622-624)CCC>TCC p.P208S WIPF2_uc002huh.1_Missense_Mutation_p.P58S|WIPF2_uc010cww.1_Missense_Mutation_p.P58S|WIPF2_uc002hui.1_Missense_Mutation_p.P208S|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Missense_Mutation_p.P208S NM_133264 NP_573571 Q8TF74 WIPF2_HUMAN WIRE protein 208 cytoplasm|cytoskeleton actin binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 3 CAGAGAGAAACCCTTGCCACC 0.637 HNSCC(43;0.11) 23 37 --- --- --- --- PASS KRT23 25984 broad.mit.edu 37 17 39092725 39092725 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:39092725G>A uc002hvm.1 - 2 720 c.131C>T c.(130-132)TCC>TTC p.S44F KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Missense_Mutation_p.S44F|KRT23_uc002hvn.1_Missense_Mutation_p.S44F NM_015515 NP_056330 Q9C075 K1C23_HUMAN keratin 23 44 Head. intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301)|Ovarian(249;0.15) GAAGGACAGGGAGATGCGGGC 0.701 21 18 --- --- --- --- PASS KRT15 3866 broad.mit.edu 37 17 39672489 39672489 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:39672489G>A uc002hwy.2 - 4 958 c.767C>T c.(766-768)GCC>GTC p.A256V KRT15_uc002hwz.2_Missense_Mutation_p.A158V|KRT15_uc002hxa.2_Missense_Mutation_p.A91V|KRT15_uc002hxb.1_Missense_Mutation_p.A91V NM_002275 NP_002266 P19012 K1C15_HUMAN keratin 15 256 Rod.|Linker 12. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton 0 Breast(137;0.000286) GACCTGGCCGGCCAGCTGGCT 0.607 71 103 --- --- --- --- PASS KRT14 3861 broad.mit.edu 37 17 39739615 39739615 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:39739615C>T uc002hxf.1 - 6 1207 c.1146G>A c.(1144-1146)GAG>GAA p.E382E JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Intron NM_000526 NP_000517 P02533 K1C14_HUMAN keratin 14 382 Rod.|Coil 2. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(1) 1 Breast(137;0.000307) GGGCCAGCTGCTCCTCCACGC 0.607 8 33 --- --- --- --- PASS HAP1 9001 broad.mit.edu 37 17 39881284 39881284 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:39881284G>A uc002hxm.1 - 12 1697 c.1685C>T c.(1684-1686)CCC>CTC p.P562L JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.P510L|HAP1_uc002hxo.1_Missense_Mutation_p.P493L|HAP1_uc002hxp.1_Missense_Mutation_p.P485L NM_177977 NP_817084 P54257 HAP1_HUMAN huntingtin-associated protein 1 isoform 2 562 Glu-rich. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding ovary(2) 2 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) CTCCTCCTGGGGCACGAACTC 0.637 45 157 --- --- --- --- PASS NKIRAS2 28511 broad.mit.edu 37 17 40174625 40174625 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:40174625G>A uc002hyq.2 + 3 368 c.303G>A c.(301-303)AAG>AAA p.K101K NKIRAS2_uc010wgd.1_Missense_Mutation_p.R69K|NKIRAS2_uc002hyr.2_Silent_p.K101K|NKIRAS2_uc002hys.2_Silent_p.K101K|NKIRAS2_uc010wge.1_Intron|NKIRAS2_uc002hyt.2_Silent_p.K101K NM_001001349 NP_001001349 Q9NYR9 KBRS2_HUMAN NFKB inhibitor interacting Ras-like 2 isoform a 101 Small GTPase-like. I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity p.K101M(1) ovary(1) 1 all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319) AGCTGCTCAAGAAGGAGATTG 0.552 13 26 --- --- --- --- PASS STAT5A 6776 broad.mit.edu 37 17 40453402 40453402 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:40453402C>T uc002hzj.1 + 10 1741 c.1099C>T c.(1099-1101)CCC>TCC p.P367S STAT5A_uc010cya.1_Missense_Mutation_p.P367S|STAT5A_uc010cyb.1_Missense_Mutation_p.P367S|STAT5A_uc010cyc.1_Missense_Mutation_p.P337S NM_003152 NP_003143 P42229 STA5A_HUMAN signal transducer and activator of transcription 367 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity lung(1) 1 all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) CATGAATCCCCCCCAGGTGAA 0.567 17 38 --- --- --- --- PASS COASY 80347 broad.mit.edu 37 17 40714916 40714916 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:40714916C>T uc002hzz.2 + 2 433 c.276C>T c.(274-276)ACC>ACT p.T92T COASY_uc010cyj.2_Silent_p.T121T|COASY_uc002iab.2_Intron|COASY_uc002iad.2_Silent_p.T92T|COASY_uc002iac.2_Silent_p.T92T|COASY_uc002iae.2_5'Flank NM_001042529 NP_001035994 Q13057 COASY_HUMAN coenzyme A synthase isoform a 92 coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity 0 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) ATATCCGAACCAAGAGCACCT 0.557 54 76 --- --- --- --- PASS AOC2 314 broad.mit.edu 37 17 40996818 40996818 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:40996818C>T uc002ibu.2 + 1 210 c.175C>T c.(175-177)CTG>TTG p.L59L AOC2_uc002ibt.2_Silent_p.L59L NM_009590 NP_033720 O75106 AOC2_HUMAN amine oxidase, copper containing 2 isoform b 59 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity ovary(2) 2 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) GTTTGCAGACCTGAGCCGAGA 0.662 45 103 --- --- --- --- PASS G6PC 2538 broad.mit.edu 37 17 41053082 41053082 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:41053082G>T uc002icb.1 + 1 268 c.189G>T c.(187-189)TGG>TGT p.W63C LOC388387_uc002ibz.2_5'Flank|LOC388387_uc002iby.2_5'Flank|LOC388387_uc002ica.2_5'Flank|LOC388387_uc010whe.1_5'Flank|G6PC_uc010whf.1_Missense_Mutation_p.W65C NM_000151 NP_000142 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 63 Helical; (Potential). W -> R (in GSD1A). gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding ovary(1)|breast(1)|kidney(1)|skin(1) 4 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) AACTCCTTTGGGTAGCTGTGA 0.493 Glycogen_Storage_Disease_type_Ia 7 73 --- --- --- --- PASS BRCA1 672 broad.mit.edu 37 17 41245974 41245974 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:41245974A>G uc002icq.2 - 10 1806 c.1574T>C c.(1573-1575)GTT>GCT p.V525A BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.V454A|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.V478A|BRCA1_uc002ict.2_Missense_Mutation_p.V525A|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.V525A|BRCA1_uc002ide.1_Missense_Mutation_p.V356A|BRCA1_uc010cyy.1_Missense_Mutation_p.V525A|BRCA1_uc010whs.1_Missense_Mutation_p.V525A|BRCA1_uc010cyz.2_Missense_Mutation_p.V478A|BRCA1_uc010cza.2_Missense_Mutation_p.V499A|BRCA1_uc010wht.1_Missense_Mutation_p.V229A NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 525 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) AGTCTTTTGAACTGCCAAATC 0.368 D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) 4 22 --- --- --- --- PASS CD300LG 146894 broad.mit.edu 37 17 41939188 41939188 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:41939188C>T uc002iem.2 + 7 949 c.908C>T c.(907-909)CCT>CTT p.P303L NM_145273 NP_660316 Q6UXG3 CLM9_HUMAN CD300 molecule-like family member g precursor 303 Cytoplasmic (Potential). apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity 0 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) AAGGAAGCCCCTTCCCAGGCC 0.602 4 3 --- --- --- --- PASS DBF4B 80174 broad.mit.edu 37 17 42818751 42818751 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:42818751C>T uc002ihf.2 + 10 974 c.761C>T c.(760-762)TCT>TTT p.S254F DBF4B_uc010wjb.1_Intron|DBF4B_uc002ihe.2_Missense_Mutation_p.S68F|DBF4B_uc010wjc.1_Missense_Mutation_p.S238F NM_145663 NP_663696 Q8NFT6 DBF4B_HUMAN DBF4 homolog B isoform 1 254 cell cycle nucleus nucleic acid binding|zinc ion binding 0 Prostate(33;0.0322) CCTGAAATTTCTTTTCTTGGA 0.483 28 40 --- --- --- --- PASS EFTUD2 9343 broad.mit.edu 37 17 42931686 42931686 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:42931686G>A uc002ihn.2 - 23 2559 c.2298C>T c.(2296-2298)ATC>ATT p.I766I EFTUD2_uc010wje.1_Silent_p.I731I|EFTUD2_uc010wjf.1_Silent_p.I756I NM_004247 NP_004238 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain 766 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding ovary(1) 1 Prostate(33;0.109) AACCTTGAACGATGCTGTCCT 0.567 20 56 --- --- --- --- PASS CDC27 996 broad.mit.edu 37 17 45258960 45258960 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:45258960G>T uc002ild.3 - 2 198 c.71C>A c.(70-72)GCG>GAG p.A24E CDC27_uc002ile.3_Missense_Mutation_p.A24E|CDC27_uc002ilf.3_Missense_Mutation_p.A24E|CDC27_uc010wkp.1_Nonsense_Mutation_p.C12*|CDC27_uc010wkq.1_RNA NM_001256 NP_001247 P30260 CDC27_HUMAN cell division cycle protein 27 isoform 2 24 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|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|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding lung(2)|breast(2)|ovary(1) 5 GAGGAAAACCGCATCTCGGTA 0.348 3 17 --- --- --- --- PASS NFE2L1 4779 broad.mit.edu 37 17 46133781 46133781 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:46133781G>A uc002imz.3 + 3 1195 c.544G>A c.(544-546)GAT>AAT p.D182N NFE2L1_uc002ina.3_Missense_Mutation_p.D182N|NFE2L1_uc002inb.3_Missense_Mutation_p.D182N|NFE2L1_uc010wle.1_Missense_Mutation_p.D24N|NFE2L1_uc010wlf.1_Missense_Mutation_p.D56N|NFE2L1_uc002inc.1_Missense_Mutation_p.D171N NM_003204 NP_003195 Q14494 NF2L1_HUMAN nuclear factor erythroid 2-like 1 182 Asp/Glu-rich (acidic). anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity skin(1) 1 TTGGCGACAGGATATTGATCT 0.522 68 230 --- --- --- --- PASS HOXB1 3211 broad.mit.edu 37 17 46607016 46607016 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:46607016G>T uc002ink.1 - 2 805 c.799C>A c.(799-801)CGG>AGG p.R267R NM_002144 NP_002135 P14653 HXB1_HUMAN homeobox B1 267 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GGGGGGACCCGACCTTCCTCT 0.612 24 38 --- --- --- --- PASS PRAC 84366 broad.mit.edu 37 17 46799691 46799691 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:46799691G>A uc002iny.2 - 1 192 c.64C>T c.(64-66)CTC>TTC p.L22F C17orf93_uc002inz.1_5'Flank NM_032391 NP_115767 Q96KF2 PRAC_HUMAN prostate cancer susceptibility candidate 22 nucleus 0 TTATTAGAGAGAAAAGCACTC 0.542 19 34 --- --- --- --- PASS CALCOCO2 10241 broad.mit.edu 37 17 46925694 46925694 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:46925694G>T uc002iof.2 + 4 373 c.294G>T c.(292-294)CTG>CTT p.L98L CALCOCO2_uc010wlp.1_Silent_p.L119L|CALCOCO2_uc010wlq.1_Silent_p.L26L|CALCOCO2_uc010wlr.1_Silent_p.L122L|CALCOCO2_uc010wls.1_Silent_p.L98L NM_005831 NP_005822 Q13137 CACO2_HUMAN calcium binding and coiled-coil domain 2 98 response to interferon-gamma|viral reproduction cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction protein homodimerization activity ovary(1) 1 CTTACTACCTGCCCAAGGATG 0.398 18 25 --- --- --- --- PASS MYST2 11143 broad.mit.edu 37 17 47874115 47874115 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:47874115C>T uc002ipm.2 + 3 293 c.167C>T c.(166-168)TCC>TTC p.S56F MYST2_uc002ipl.1_Missense_Mutation_p.S56F|MYST2_uc010wma.1_Intron|MYST2_uc010wmb.1_Missense_Mutation_p.S56F|MYST2_uc010wmc.1_Intron|MYST2_uc010wmd.1_5'UTR|MYST2_uc010wme.1_5'UTR NM_007067 NP_008998 O95251 MYST2_HUMAN MYST histone acetyltransferase 2 56 Ser-rich. DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 GGATCAGATTCCAGTCCTGTT 0.428 20 77 --- --- --- --- PASS SGCA 6442 broad.mit.edu 37 17 48244988 48244988 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:48244988G>A uc002iqi.2 + 3 239 c.203G>A c.(202-204)GGA>GAA p.G68E SGCA_uc010wmh.1_Intron|SGCA_uc002iqj.2_Missense_Mutation_p.G68E|SGCA_uc010wmi.1_RNA NM_000023 NP_000014 Q16586 SGCA_HUMAN sarcoglycan, alpha isoform 1 precursor 68 Extracellular (Potential). G -> E (in LGMD2D). muscle contraction|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma calcium ion binding ovary(2) 2 CACCTCCAGGGACACCCAGAC 0.672 11 19 --- --- --- --- PASS COL1A1 1277 broad.mit.edu 37 17 48266110 48266110 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:48266110C>T uc002iqm.2 - 42 3218 c.3092G>A c.(3091-3093)GGC>GAC p.G1031D NM_000088 NP_000079 P02452 CO1A1_HUMAN alpha 1 type I collagen preproprotein 1031 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1) 382 Collagenase(DB00048)|Palifermin(DB00039) TACCTTGGCGCCAGGAGAACC 0.617 T PDGFB|USP6 dermatofibrosarcoma protuberans|aneurysmal bone cyst Osteogenesis imperfecta 9 35 --- --- --- --- PASS COL1A1 1277 broad.mit.edu 37 17 48269882 48269882 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:48269882G>A uc002iqm.2 - 29 2063 c.1937C>T c.(1936-1938)CCT>CTT p.P646L NM_000088 NP_000079 P02452 CO1A1_HUMAN alpha 1 type I collagen preproprotein 646 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1) 382 Collagenase(DB00048)|Palifermin(DB00039) AGCAGGACCAGGGAGACCCTG 0.582 T PDGFB|USP6 dermatofibrosarcoma protuberans|aneurysmal bone cyst Osteogenesis imperfecta 19 12 --- --- --- --- PASS COL1A1 1277 broad.mit.edu 37 17 48270367 48270367 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:48270367G>A uc002iqm.2 - 26 1935 c.1809C>T c.(1807-1809)CCC>CCT p.P603P NM_000088 NP_000079 P02452 CO1A1_HUMAN alpha 1 type I collagen preproprotein 603 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1) 382 Collagenase(DB00048)|Palifermin(DB00039) CAGCGCCAGGGGGTCCGGGAA 0.632 T PDGFB|USP6 dermatofibrosarcoma protuberans|aneurysmal bone cyst Osteogenesis imperfecta 5 18 --- --- --- --- PASS CACNA1G 8913 broad.mit.edu 37 17 48695421 48695421 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:48695421G>A uc002irk.1 + 31 5611 c.5239G>A c.(5239-5241)GGA>AGA p.G1747R CACNA1G_uc002irj.1_Missense_Mutation_p.G1713R|CACNA1G_uc002irl.1_Missense_Mutation_p.G1724R|CACNA1G_uc002irm.1_Missense_Mutation_p.G1713R|CACNA1G_uc002irn.1_Missense_Mutation_p.G1706R|CACNA1G_uc002iro.1_Missense_Mutation_p.G1713R|CACNA1G_uc002irp.1_Missense_Mutation_p.G1747R|CACNA1G_uc002irq.1_Missense_Mutation_p.G1724R|CACNA1G_uc002irr.1_Missense_Mutation_p.G1747R|CACNA1G_uc002irs.1_Missense_Mutation_p.G1736R|CACNA1G_uc002irt.1_Missense_Mutation_p.G1729R|CACNA1G_uc002irv.1_Missense_Mutation_p.G1736R|CACNA1G_uc002irw.1_Missense_Mutation_p.G1724R|CACNA1G_uc002iru.1_Missense_Mutation_p.G1713R|CACNA1G_uc002irx.1_Missense_Mutation_p.G1660R|CACNA1G_uc002iry.1_Missense_Mutation_p.G1649R|CACNA1G_uc002irz.1_Missense_Mutation_p.G1653R|CACNA1G_uc002isa.1_Missense_Mutation_p.G1626R|CACNA1G_uc002isb.1_Missense_Mutation_p.G1667R|CACNA1G_uc002isc.1_Missense_Mutation_p.G1649R|CACNA1G_uc002isd.1_Missense_Mutation_p.G1635R|CACNA1G_uc002ise.1_Missense_Mutation_p.G1615R|CACNA1G_uc002isf.1_Missense_Mutation_p.G1642R|CACNA1G_uc002isg.1_Missense_Mutation_p.G1608R|CACNA1G_uc002ish.1_Missense_Mutation_p.G1615R|CACNA1G_uc002isi.1_Missense_Mutation_p.G1603R NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 1747 Helical; Name=S5 of repeat IV; (Potential).|IV. axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GGGGAACCTGGGACTTCTCTT 0.557 5 21 --- --- --- --- PASS WFIKKN2 124857 broad.mit.edu 37 17 48917207 48917207 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:48917207C>T uc002isv.3 + 2 1252 c.558C>T c.(556-558)CCC>CCT p.P186P WFIKKN2_uc010dbu.2_Silent_p.P93P NM_175575 NP_783165 Q8TEU8 WFKN2_HUMAN WFIKKN2 protein 186 extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) ACACCAGCCCCCCACCACCTG 0.622 8 15 --- --- --- --- PASS ANKFN1 162282 broad.mit.edu 37 17 54534322 54534322 + Splice_Site SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:54534322G>A uc002iun.1 + 11 1351 c.1316_splice c.e11+1 p.R439_splice NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain large_intestine(1)|ovary(1) 2 CCTTAAAACGGTGGGTTCTAT 0.383 9 33 --- --- --- --- PASS EPX 8288 broad.mit.edu 37 17 56271340 56271340 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:56271340G>A uc002ivq.2 + 5 567 c.481G>A c.(481-483)GGG>AGG p.G161R NM_000502 NP_000493 P11678 PERE_HUMAN eosinophil peroxidase preproprotein 161 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding ovary(2) 2 ACCCTTGCTAGGGGCCTCCAA 0.667 4 13 --- --- --- --- PASS MKS1 54903 broad.mit.edu 37 17 56285516 56285516 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:56285516G>A uc002ivr.1 - 13 1190 c.1115C>T c.(1114-1116)TCC>TTC p.S372F MKS1_uc010wnq.1_Missense_Mutation_p.S169F|MKS1_uc002ivs.1_Missense_Mutation_p.S372F NM_017777 NP_060247 Q9NXB0 MKS1_HUMAN Meckel syndrome type 1 protein isoform 1 372 B9. cilium assembly centrosome|cilium|microtubule basal body protein binding ovary(1) 1 GAATGGGTAGGAGAAGTGAGC 0.502 14 18 --- --- --- --- PASS MPO 4353 broad.mit.edu 37 17 56350926 56350926 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:56350926G>A uc002ivu.1 - 9 1647 c.1470C>T c.(1468-1470)ATC>ATT p.I490I NM_000250 NP_000241 P05164 PERM_HUMAN myeloperoxidase 490 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity ovary(2)|large_intestine(1)|pancreas(1) 4 Cefdinir(DB00535) AGACGTTGGCGATGCGTGGGT 0.602 18 56 --- --- --- --- PASS TEX14 56155 broad.mit.edu 37 17 56649316 56649316 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:56649316G>A uc010dcz.1 - 25 3939 c.3821C>T c.(3820-3822)TCC>TTC p.S1274F TEX14_uc002iwr.1_Missense_Mutation_p.S1268F|TEX14_uc002iws.1_Missense_Mutation_p.S1228F|TEX14_uc010dda.1_Missense_Mutation_p.S1008F NM_198393 NP_938207 Q8IWB6 TEX14_HUMAN testis expressed sequence 14 isoform a 1274 cytoplasm ATP binding|protein kinase activity stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1) 17 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGTTTCAGAGGAAGTAAGGAG 0.433 24 42 --- --- --- --- PASS TEX14 56155 broad.mit.edu 37 17 56663264 56663264 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:56663264C>T uc010dcz.1 - 18 3104 c.2986G>A c.(2986-2988)GAA>AAA p.E996K TEX14_uc002iwr.1_Missense_Mutation_p.E990K|TEX14_uc002iws.1_Missense_Mutation_p.E990K|TEX14_uc010dda.1_Missense_Mutation_p.E770K NM_198393 NP_938207 Q8IWB6 TEX14_HUMAN testis expressed sequence 14 isoform a 996 cytoplasm ATP binding|protein kinase activity stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1) 17 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCATCATTTTCCCTATGATAC 0.527 13 80 --- --- --- --- PASS PPM1E 22843 broad.mit.edu 37 17 57033100 57033100 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:57033100G>A uc002iwx.2 + 2 682 c.555G>A c.(553-555)AAG>AAA p.K185K PPM1E_uc010ddd.2_Missense_Mutation_p.R15K NM_014906 NP_055721 Q8WY54 PPM1E_HUMAN protein phosphatase 1E 194 protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(3)|lung(1)|skin(1) 5 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) ATATCCCAAAGGAAACGGATG 0.403 18 72 --- --- --- --- PASS USP32 84669 broad.mit.edu 37 17 58332618 58332618 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:58332618A>T uc002iyo.1 - 10 1278 c.992T>A c.(991-993)ATG>AAG p.M331K USP32_uc002iyn.1_Missense_Mutation_p.M1K|USP32_uc010wov.1_Missense_Mutation_p.M331K NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 331 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) AAGATGACCCATCTGAAACAG 0.259 8 31 --- --- --- --- PASS BRIP1 83990 broad.mit.edu 37 17 59885938 59885938 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:59885938C>T uc002izk.1 - 7 949 c.808G>A c.(808-810)GGG>AGG p.G270R NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 270 Helicase ATP-binding. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 ATTGGAACCCCTGAATATGCC 0.443 F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 20 54 --- --- --- --- PASS INTS2 57508 broad.mit.edu 37 17 59944991 59944991 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:59944991G>A uc002izn.2 - 25 3618 c.3542C>T c.(3541-3543)CCT>CTT p.P1181L INTS2_uc002izm.2_Missense_Mutation_p.P1173L NM_020748 NP_065799 Q9H0H0 INT2_HUMAN integrator complex subunit 2 1181 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding ovary(1)|lung(1)|pancreas(1) 3 CTGTACATCAGGATCCATGCT 0.328 19 25 --- --- --- --- PASS MED13 9969 broad.mit.edu 37 17 60040321 60040321 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:60040321C>A uc002izo.2 - 21 4933 c.4856G>T c.(4855-4857)CGG>CTG p.R1619L NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1619 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 CACTTTATCCCGATCCATCGT 0.398 4 58 --- --- --- --- PASS MRC2 9902 broad.mit.edu 37 17 60753195 60753195 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:60753195C>T uc002jad.2 + 10 2016 c.1614C>T c.(1612-1614)GAC>GAT p.D538D MRC2_uc002jac.2_Silent_p.D538D|MRC2_uc010ddq.1_5'Flank NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 538 Extracellular (Potential).|C-type lectin 3. endocytosis integral to membrane receptor activity|sugar binding ovary(1)|central_nervous_system(1)|skin(1) 3 TGGGAGAAGACCAAGTGACCT 0.607 11 54 --- --- --- --- PASS MRC2 9902 broad.mit.edu 37 17 60753196 60753196 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:60753196C>T uc002jad.2 + 10 2017 c.1615C>T c.(1615-1617)CAA>TAA p.Q539* MRC2_uc002jac.2_Nonsense_Mutation_p.Q539*|MRC2_uc010ddq.1_5'Flank NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 539 Extracellular (Potential).|C-type lectin 3. endocytosis integral to membrane receptor activity|sugar binding ovary(1)|central_nervous_system(1)|skin(1) 3 GGGAGAAGACCAAGTGACCTA 0.612 11 54 --- --- --- --- PASS TANC2 26115 broad.mit.edu 37 17 61345178 61345178 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:61345178C>T uc002jal.3 + 7 904 c.881C>T c.(880-882)TCT>TTT p.S294F TANC2_uc010wpe.1_Missense_Mutation_p.S204F NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and 294 binding ovary(2) 2 TTGAGAACTTCTCTACGAATG 0.483 15 31 --- --- --- --- PASS ERN1 2081 broad.mit.edu 37 17 62121422 62121422 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:62121422C>T uc002jdz.2 - 22 2973 c.2860G>A c.(2860-2862)GAG>AAG p.E954K uc002jdy.1_5'Flank NM_001433 NP_001424 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signalling 1 954 Cytoplasmic (Potential).|KEN. activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1) 9 AAGAGTCTCTCGTGGCTGCAC 0.657 9 35 --- --- --- --- PASS ERN1 2081 broad.mit.edu 37 17 62137873 62137873 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:62137873C>T uc002jdz.2 - 11 1275 c.1162G>A c.(1162-1164)GAA>AAA p.E388K NM_001433 NP_001424 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signalling 1 388 Lumenal (Potential). activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1) 9 ATCACATTTTCCCGATGTTTG 0.413 18 53 --- --- --- --- PASS RGS9 8787 broad.mit.edu 37 17 63193340 63193340 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:63193340C>T uc002jfe.2 + 13 1067 c.957C>T c.(955-957)TTC>TTT p.F319F RGS9_uc010dem.2_Silent_p.F316F|RGS9_uc002jfd.2_Silent_p.F316F|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Silent_p.F90F NM_003835 NP_003826 O75916 RGS9_HUMAN regulator of G-protein signaling 9 isoform 1 319 RGS. F -> S (in Ref. 3; AAM12647). intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity ovary(2)|skin(2) 4 TCCAGTACTTCCTCAAGAAAG 0.433 4 19 --- --- --- --- PASS AXIN2 8313 broad.mit.edu 37 17 63532556 63532556 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:63532556G>A uc002jfi.2 - 8 2312 c.2023C>T c.(2023-2025)CGT>TGT p.R675C AXIN2_uc002jfh.2_Missense_Mutation_p.R610C NM_004655 NP_004646 Q9Y2T1 AXIN2_HUMAN axin 2 675 cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding central_nervous_system(1)|skin(1) 2 AGGTGGGCACGGGGGGTGGTG 0.692 Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome 4 17 --- --- --- --- PASS CCDC46 201134 broad.mit.edu 37 17 63923748 63923748 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:63923748C>T uc002jfl.2 - 19 2151 c.1932G>A c.(1930-1932)AAG>AAA p.K644K CCDC46_uc010deo.2_Silent_p.K386K|CCDC46_uc002jfm.2_Silent_p.K644K|CCDC46_uc010dep.2_Silent_p.K602K NM_145036 NP_659473 Q8N8E3 CE112_HUMAN coiled-coil domain containing 46 isoform a 644 Potential. centrosome 0 BRCA - Breast invasive adenocarcinoma(6;1.53e-06) ATAAAAACTCCTTTGATTGTT 0.294 20 27 --- --- --- --- PASS APOH 350 broad.mit.edu 37 17 64210728 64210728 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:64210728G>A uc002jfn.3 - 7 884 c.825C>T c.(823-825)TAC>TAT p.Y275Y NM_000042 NP_000033 P02749 APOH_HUMAN apolipoprotein H precursor 275 Sushi-like. blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding 0 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) TCTCTCCTTGGTACACCACAG 0.358 12 49 --- --- --- --- PASS BPTF 2186 broad.mit.edu 37 17 65889712 65889712 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:65889712G>A uc002jgf.2 + 6 2343 c.2282G>A c.(2281-2283)GGA>GAA p.G761E BPTF_uc002jge.2_Missense_Mutation_p.G887E|BPTF_uc010wqm.1_Missense_Mutation_p.G824E NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 887 Interaction with MAZ. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) ACTCCAGCAGGAGAGTTCAAA 0.428 10 32 --- --- --- --- PASS MIR635 693220 broad.mit.edu 37 17 66420657 66420657 + RNA SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:66420657T>A hsa-mir-635|MI0003650 - c.33T>A WIPI1_uc010dey.2_Intron|WIPI1_uc002jhd.3_Intron|WIPI1_uc010wqo.1_Intron|WIPI1_uc002jhe.3_Intron 0 CTAATGGACATTGTTTCAGTG 0.413 8 11 --- --- --- --- PASS ABCA5 23461 broad.mit.edu 37 17 67293357 67293357 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:67293357C>T uc002jif.2 - 9 2629 c.1411G>A c.(1411-1413)GAA>AAA p.E471K ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.E471K|ABCA5_uc002jih.2_Missense_Mutation_p.E471K|ABCA5_uc010dfe.2_Missense_Mutation_p.E471K NM_018672 NP_061142 Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A , member 5 471 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;3.72e-11) CCTACAAATTCTGAAGAAACT 0.303 8 33 --- --- --- --- PASS MAP2K6 5608 broad.mit.edu 37 17 67515456 67515456 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:67515456G>T uc002jij.2 + 5 537 c.249G>T c.(247-249)CGG>CGT p.R83R MAP2K6_uc002jii.2_Silent_p.R83R|MAP2K6_uc002jik.2_Silent_p.R113R NM_002758 NP_002749 P52564 MP2K6_HUMAN mitogen-activated protein kinase kinase 6 83 Protein kinase. activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|pancreas(1) 5 Breast(10;6.05e-10) CCATTCAGCGGATCCGAGCCA 0.458 9 48 --- --- --- --- PASS SDK2 54549 broad.mit.edu 37 17 71394475 71394475 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:71394475G>A uc010dfm.2 - 23 3187 c.3187C>T c.(3187-3189)CCC>TCC p.P1063S SDK2_uc002jjt.3_Missense_Mutation_p.P222S|SDK2_uc010dfn.2_Missense_Mutation_p.P742S NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 1063 Fibronectin type-III 5.|Extracellular (Potential). cell adhesion integral to membrane ovary(2) 2 CAGGTGAAGGGGTTGAGGTCG 0.637 22 25 --- --- --- --- PASS TTYH2 94015 broad.mit.edu 37 17 72245532 72245532 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:72245532C>T uc002jkc.2 + 8 955 c.924C>T c.(922-924)TTC>TTT p.F308F TTYH2_uc010wqw.1_Silent_p.F287F|TTYH2_uc002jkd.2_5'UTR NM_032646 NP_116035 Q9BSA4 TTYH2_HUMAN tweety 2 isoform 1 308 Extracellular (Potential). chloride channel complex|plasma membrane chloride channel activity|protein binding ovary(3)|large_intestine(1) 4 GCAGCCCCTTCCAGCAGGTAT 0.612 26 37 --- --- --- --- PASS TTYH2 94015 broad.mit.edu 37 17 72249255 72249255 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:72249255C>T uc002jkc.2 + 12 1326 c.1295C>T c.(1294-1296)CCC>CTC p.P432L TTYH2_uc010wqw.1_Missense_Mutation_p.P411L|TTYH2_uc002jkd.2_Missense_Mutation_p.P111L NM_032646 NP_116035 Q9BSA4 TTYH2_HUMAN tweety 2 isoform 1 432 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity|protein binding ovary(3)|large_intestine(1) 4 GATGATGACCCCTTTAACCCC 0.582 27 50 --- --- --- --- PASS KIF19 124602 broad.mit.edu 37 17 72346967 72346967 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:72346967G>A uc002jkm.3 + 12 1648 c.1510G>A c.(1510-1512)GAG>AAG p.E504K KIF19_uc002jkj.2_Missense_Mutation_p.E504K|KIF19_uc002jkk.2_Missense_Mutation_p.E462K|KIF19_uc002jkl.2_Missense_Mutation_p.E462K NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN kinesin family member 19 504 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 AGACATCCTGGAGCCACCCGA 0.622 17 44 --- --- --- --- PASS KIF19 124602 broad.mit.edu 37 17 72351329 72351329 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:72351329G>A uc002jkm.3 + 20 3013 c.2875G>A c.(2875-2877)GAC>AAC p.D959N NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN kinesin family member 19 959 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 AGGCCCGGGGGACTCCTCACC 0.652 14 13 --- --- --- --- PASS CD300C 10871 broad.mit.edu 37 17 72541058 72541058 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:72541058G>A uc002jky.1 - 2 451 c.90C>T c.(88-90)ACC>ACT p.T30T NM_006678 NP_006669 Q08708 CLM6_HUMAN CD300C antigen precursor 30 Extracellular (Potential).|Ig-like V-type. cellular defense response integral to plasma membrane transmembrane receptor activity 0 GGCCCGCCACGGTCATGGGGT 0.577 5 13 --- --- --- --- PASS CD300E 342510 broad.mit.edu 37 17 72613441 72613441 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:72613441C>T uc002jlb.1 - 2 245 c.204G>A c.(202-204)GAG>GAA p.E68E NM_181449 NP_852114 Q496F6 CLM2_HUMAN CD300e molecule precursor 68 Ig-like V-type.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity skin(2)|large_intestine(1)|ovary(1) 4 TCTCCACCTTCTCTTCTCCCT 0.522 15 32 --- --- --- --- PASS TMEM104 54868 broad.mit.edu 37 17 72791233 72791233 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:72791233C>T uc002jls.3 + 7 672 c.510C>T c.(508-510)TCC>TCT p.S170S TMEM104_uc010wrf.1_Silent_p.S170S|TMEM104_uc010wrg.1_Silent_p.S183S|TMEM104_uc010dfx.2_Silent_p.S170S NM_017728 NP_060198 Q8NE00 TM104_HUMAN transmembrane protein 104 170 Extracellular (Potential). integral to membrane 0 all_lung(278;0.23) TGCCCTTCTCCCTCATGCAGG 0.572 15 29 --- --- --- --- PASS TMEM104 54868 broad.mit.edu 37 17 72832361 72832361 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:72832361C>T uc002jls.3 + 10 1188 c.1026C>T c.(1024-1026)TTC>TTT p.F342F TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Silent_p.F342F NM_017728 NP_060198 Q8NE00 TM104_HUMAN transmembrane protein 104 342 Extracellular (Potential). integral to membrane 0 all_lung(278;0.23) CCCTCAACTTCGCGCGCTGTG 0.612 35 100 --- --- --- --- PASS FADS6 283985 broad.mit.edu 37 17 72888659 72888659 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:72888659G>A uc002jmd.1 - 2 360 c.348C>T c.(346-348)TTC>TTT p.F116F NM_178128 NP_835229 Q8N9I5 FADS6_HUMAN fatty acid desaturase domain family, member 6 122 Helical; (Potential). fatty acid biosynthetic process integral to membrane oxidoreductase activity 0 all_lung(278;0.172)|Lung NSC(278;0.207) CCTCCACAAAGAAAAGCAGCC 0.597 4 19 --- --- --- --- PASS OTOP2 92736 broad.mit.edu 37 17 72929487 72929487 + Silent SNP C T T rs5018711 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:72929487C>T uc010wrp.1 + 8 1625 c.1536C>T c.(1534-1536)GCC>GCT p.A512A OTOP3_uc010wrq.1_5'Flank|OTOP3_uc010wrr.1_5'Flank NM_178160 NP_835454 Q7RTS6 OTOP2_HUMAN otopetrin 2 512 Helical; (Potential). integral to membrane ovary(3)|large_intestine(1) 4 all_lung(278;0.172)|Lung NSC(278;0.207) TCATGCCTGCCTTCGGGGCCC 0.582 22 48 --- --- --- --- PASS TRIM47 91107 broad.mit.edu 37 17 73870748 73870748 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:73870748G>A uc002jpw.2 - 6 1760 c.1733C>T c.(1732-1734)TCC>TTC p.S578F TRIM47_uc002jpv.2_Missense_Mutation_p.S340F NM_033452 NP_258411 Q96LD4 TRI47_HUMAN tripartite motif-containing 47 578 B30.2/SPRY. cytoplasm|nucleus zinc ion binding ovary(2)|prostate(1)|lung(1)|breast(1) 5 Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) GCGGGGCCGGGAGGCCTTCAG 0.662 13 11 --- --- --- --- PASS UBE2O 63893 broad.mit.edu 37 17 74387585 74387585 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:74387585G>A uc002jrm.3 - 18 3383 c.3318C>T c.(3316-3318)ATC>ATT p.I1106I UBE2O_uc002jrl.3_Silent_p.I710I NM_022066 NP_071349 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 1106 ATP binding|ubiquitin-protein ligase activity breast(2)|skin(2)|lung(1) 5 GCACCACGCGGATCAGCGCCA 0.577 14 35 --- --- --- --- PASS ST6GALNAC1 55808 broad.mit.edu 37 17 74622468 74622468 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:74622468G>A uc002jsh.2 - 6 1492 c.1318C>T c.(1318-1320)CGC>TGC p.R440C ST6GALNAC1_uc002jsi.2_Missense_Mutation_p.R308C|ST6GALNAC1_uc002jsj.2_Intron NM_018414 NP_060884 Q9NSC7 SIA7A_HUMAN sialyltransferase 7A 440 Lumenal (Potential). protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity 0 TGCAAGTAGCGGACGTCCTGA 0.552 7 30 --- --- --- --- PASS MGAT5B 146664 broad.mit.edu 37 17 74928785 74928785 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:74928785G>A uc002jti.2 + 10 1486 c.1383G>A c.(1381-1383)GAG>GAA p.E461E MGAT5B_uc002jth.2_Silent_p.E450E NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN N-acetylglucosaminyltranferase VB isoform 2 450 Lumenal (Potential). Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(2)|skin(1) 3 ACGAGACGGAGAAGCGGCTCA 0.632 17 25 --- --- --- --- PASS MGAT5B 146664 broad.mit.edu 37 17 74942448 74942448 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:74942448C>T uc002jtj.2 + 1 117 c.54C>T c.(52-54)TCC>TCT p.S18S MGAT5B_uc002jth.2_Intron|MGAT5B_uc002jti.2_Intron Q3V5L5 MGT5B_HUMAN RecName: Full=Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B; EC=2.4.1.155; EC=2.4.1.-; AltName: Full=Alpha-mannoside beta-1,6-N-acetylglucosaminyltransferase B; AltName: Full=Mannoside acetylglucosaminyltransferase 5B; AltName: Full=N-acetylglucosaminyl-transferase Vb; AltName: Full=GlcNAc-T Vb; Short=hGnTVb; Short=GNT-Vb; AltName: Full=N-acetylglucosaminyltransferase IX; Short=GNT-IX; Error:Variant_position_missing_in_Q3V5L5_after_alignment Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(2)|skin(1) 3 TCTGCCCATCCCTCCCACAGG 0.657 9 5 --- --- --- --- PASS DNAH17 8632 broad.mit.edu 37 17 76435281 76435281 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:76435281G>A uc010dhp.1 - 18 2918 c.2696C>T c.(2695-2697)ACC>ATC p.T899I DNAH17_uc002jvq.2_Missense_Mutation_p.T184I|DNAH17_uc002jvs.2_RNA SubName: Full=DNAH17 variant protein; Flags: Fragment; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) ATTGTCTATGGTAAACCCTAG 0.463 9 10 --- --- --- --- PASS DNAH17 8632 broad.mit.edu 37 17 76455988 76455988 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:76455988C>T uc010dhp.1 - 5 753 c.531G>A c.(529-531)AAG>AAA p.K177K DNAH17_uc002jvs.2_RNA SubName: Full=DNAH17 variant protein; Flags: Fragment; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CCTTGGGGATCTTGCCCCCAG 0.582 8 33 --- --- --- --- PASS DNAH17 8632 broad.mit.edu 37 17 76547628 76547628 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:76547628G>A uc002jvv.1 - 12 1592 c.1486C>T c.(1486-1488)CAG>TAG p.Q496* RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TTCATAGCCTGGGAAATTCCT 0.502 6 33 --- --- --- --- PASS DNAH17 8632 broad.mit.edu 37 17 76547629 76547629 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:76547629G>A uc002jvv.1 - 12 1591 c.1485C>T c.(1483-1485)TCC>TCT p.S495S RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TCATAGCCTGGGAAATTCCTT 0.502 7 33 --- --- --- --- PASS DNAH17 8632 broad.mit.edu 37 17 76557905 76557905 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:76557905G>A uc002jvv.1 - 8 939 c.833C>T c.(832-834)CCC>CTC p.P278L RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GTGGATCAGGGGGATGTTCCC 0.567 5 29 --- --- --- --- PASS DNAH17 8632 broad.mit.edu 37 17 76565307 76565307 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:76565307G>A uc002jvv.1 - 5 437 c.331C>T c.(331-333)CCT>TCT p.P111S RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGAGAAGAAGGGAATTCCCAA 0.473 5 13 --- --- --- --- PASS DNAH17 8632 broad.mit.edu 37 17 76565308 76565308 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:76565308G>A uc002jvv.1 - 5 436 c.330C>T c.(328-330)TTC>TTT p.F110F RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GAGAAGAAGGGAATTCCCAAG 0.468 5 15 --- --- --- --- PASS USP36 57602 broad.mit.edu 37 17 76831522 76831522 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:76831522G>A uc002jvz.1 - 4 640 c.315C>T c.(313-315)TTC>TTT p.F105F USP36_uc002jwa.1_Silent_p.F105F|USP36_uc002jwd.1_Silent_p.F105F NM_025090 NP_079366 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 105 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) GCTCCGTGGGGAAAAGCACTT 0.582 10 10 --- --- --- --- PASS CBX2 84733 broad.mit.edu 37 17 77755583 77755583 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:77755583C>T uc002jxc.2 + 4 313 c.271C>T c.(271-273)CGG>TGG p.R91W CBX2_uc002jxb.1_Missense_Mutation_p.R91W NM_005189 NP_005180 Q14781 CBX2_HUMAN chromobox homolog 2 isoform 1 91 Ser-rich. cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding 0 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CTCCTGCAGCCGGCGCTCCAA 0.657 10 18 --- --- --- --- PASS TBC1D16 125058 broad.mit.edu 37 17 77924299 77924299 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:77924299C>T uc002jxj.2 - 6 1284 c.1168G>A c.(1168-1170)GAG>AAG p.E390K TBC1D16_uc002jxh.2_Missense_Mutation_p.E28K|TBC1D16_uc002jxi.2_Missense_Mutation_p.E29K|TBC1D16_uc002jxk.1_Missense_Mutation_p.E28K NM_019020 NP_061893 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 390 intracellular Rab GTPase activator activity 0 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) TACATGCTCTCCTCGGGGTGC 0.642 3 8 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 17 78282825 78282825 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:78282825G>A uc002jyf.2 + 14 2652 c.2509G>A c.(2509-2511)GAG>AAG p.E837K uc002jyg.1_Missense_Mutation_p.E568K NM_020954 NP_066005 hypothetical protein LOC57714 CAGGATTCCCGAGGAGGCCTT 0.478 15 61 --- --- --- --- PASS CHMP6 79643 broad.mit.edu 37 17 78969519 78969519 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:78969519G>A uc002jyw.3 + 4 387 c.309G>A c.(307-309)GGG>GGA p.G103G NM_024591 NP_078867 Q96FZ7 CHMP6_HUMAN chromatin modifying protein 6 103 Potential. cellular membrane organization|endosome transport|protein transport cytosol|endomembrane system|late endosome membrane protein N-terminus binding ovary(1) 1 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) TGATGGAGGGGCTGCAGTTTG 0.567 22 38 --- --- --- --- PASS SLC38A10 124565 broad.mit.edu 37 17 79263498 79263498 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:79263498G>A uc002jzz.1 - 2 585 c.210C>T c.(208-210)GCC>GCT p.A70A SLC38A10_uc002kab.2_Silent_p.A70A NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 isoform a 70 amino acid transport|sodium ion transport integral to membrane pancreas(1)|skin(1) 2 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CACCCAGGCCGGCGTAGGTCC 0.552 10 14 --- --- --- --- PASS ACTG1 71 broad.mit.edu 37 17 79478502 79478502 + Missense_Mutation SNP G A A rs11549192 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:79478502G>A uc002kaj.1 - 3 539 c.514C>T c.(514-516)CCC>TCC p.P172S ACTG1_uc002kah.1_Missense_Mutation_p.P50S|ACTG1_uc002kai.1_Missense_Mutation_p.P129S|ACTG1_uc002kak.1_Missense_Mutation_p.P172S|ACTG1_uc010wun.1_Missense_Mutation_p.P172S|ACTG1_uc002kal.1_Missense_Mutation_p.P172S|ACTG1_uc002kag.2_RNA NM_001614 NP_001605 P63261 ACTG_HUMAN actin, gamma 1 propeptide 172 adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol ATP binding|identical protein binding ovary(1)|central_nervous_system(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547) ATGGCGTGGGGGAGGGCGTAG 0.647 21 30 --- --- --- --- PASS NPLOC4 55666 broad.mit.edu 37 17 79596825 79596825 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:79596825G>A uc002kat.3 - 2 204 c.22C>T c.(22-24)CGT>TGT p.R8C NPLOC4_uc002kau.3_Missense_Mutation_p.R8C|NPLOC4_uc010wur.1_5'UTR NM_017921 NP_060391 Q8TAT6 NPL4_HUMAN nuclear protein localization 4 8 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding ovary(1)|central_nervous_system(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) GACTGGACACGAATTATCTGT 0.463 19 62 --- --- --- --- PASS SLC25A10 1468 broad.mit.edu 37 17 79682059 79682059 + Missense_Mutation SNP T G G rs141074608 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:79682059T>G uc002kbi.2 + 2 256 c.170T>G c.(169-171)ATC>AGC p.I57S SLC25A10_uc010wut.1_Missense_Mutation_p.I212S|SLC25A10_uc010dif.2_Missense_Mutation_p.I57S|SLC25A10_uc010wuu.1_Missense_Mutation_p.I11S NM_012140 NP_036272 Q9UBX3 DIC_HUMAN solute carrier family 25 (mitochondrial carrier; 57 Solcar 1. gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding 0 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) ACCGACGGCATCCTGGCACTC 0.662 4 16 --- --- --- --- PASS NOTUM 147111 broad.mit.edu 37 17 79914614 79914614 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:79914614C>T uc010wvg.1 - 8 1172 c.900G>A c.(898-900)GGG>GGA p.G300G NM_178493 NP_848588 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog precursor 300 extracellular region hydrolase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) CCGGGACCACCCCGTTCCAGT 0.672 5 9 --- --- --- --- PASS FASN 2194 broad.mit.edu 37 17 80045900 80045900 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:80045900G>A uc002kdu.2 - 18 2913 c.2796C>T c.(2794-2796)TCC>TCT p.S932S FASN_uc002kdw.1_Silent_p.S148S NM_004104 NP_004095 P49327 FAS_HUMAN fatty acid synthase 932 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) GTACCTCCAGGGACACTGTCC 0.667 10 17 --- --- --- --- PASS ZNF750 79755 broad.mit.edu 37 17 80788605 80788605 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:80788605C>T uc002kga.2 - 3 1896 c.1585G>A c.(1585-1587)GAA>AAA p.E529K TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 529 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TACGTGGGTTCGTGGGTGGCT 0.617 10 29 --- --- --- --- PASS ZNF750 79755 broad.mit.edu 37 17 80789461 80789461 + Silent SNP C T T rs117000095 by1000genomes TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:80789461C>T uc002kga.2 - 2 1181 c.870G>A c.(868-870)CCG>CCA p.P290P TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 290 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) GCTTAGGGATCGGCCCCGGGT 0.577 43 64 --- --- --- --- PASS TBCD 6904 broad.mit.edu 37 17 80828254 80828254 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:80828254G>A uc002kfz.2 + 14 1603 c.1473G>A c.(1471-1473)TCG>TCA p.S491S TBCD_uc002kfx.1_Silent_p.S474S|TBCD_uc002kfy.1_Silent_p.S491S NM_005993 NP_005984 Q9BTW9 TBCD_HUMAN beta-tubulin cofactor D 491 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity 0 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) CTGCAATCTCGAGGTAGGCCC 0.632 10 10 --- --- --- --- PASS COLEC12 81035 broad.mit.edu 37 18 346394 346394 + Silent SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:346394A>G uc002kkm.2 - 5 1443 c.1228T>C c.(1228-1230)TTA>CTA p.L410L NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 410 Extracellular (Potential). carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) TCAGTGTCTAACCTCGACCTC 0.413 16 42 --- --- --- --- PASS EMILIN2 84034 broad.mit.edu 37 18 2892287 2892287 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:2892287G>A uc002kln.2 + 4 2321 c.2162G>A c.(2161-2163)GGA>GAA p.G721E NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 precursor 721 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding skin(2)|ovary(1) 3 READ - Rectum adenocarcinoma(2;0.1) TCTATCTCAGGAAATCTTCAG 0.542 19 24 --- --- --- --- PASS MYOM1 8736 broad.mit.edu 37 18 3155065 3155065 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:3155065C>T uc002klp.2 - 11 1857 c.1523G>A c.(1522-1524)GGA>GAA p.G508E MYOM1_uc002klq.2_Missense_Mutation_p.G508E NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 508 striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 AGCTGGGGCTCCTTCAATCTC 0.527 8 14 --- --- --- --- PASS MYOM1 8736 broad.mit.edu 37 18 3215053 3215053 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:3215053C>T uc002klp.2 - 2 503 c.169G>A c.(169-171)GAG>AAG p.E57K MYOM1_uc002klq.2_Missense_Mutation_p.E57K NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 57 striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 GCCTCGGACTCCCGGCGGTGC 0.692 4 11 --- --- --- --- PASS TGIF1 7050 broad.mit.edu 37 18 3456442 3456442 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:3456442G>A uc002klz.2 + 2 881 c.494G>A c.(493-495)AGA>AAA p.R165K TGIF1_uc002klu.2_Missense_Mutation_p.R16K|TGIF1_uc002klv.2_Missense_Mutation_p.R50K|TGIF1_uc002klx.2_Missense_Mutation_p.R16K|TGIF1_uc002klw.2_Missense_Mutation_p.R36K|TGIF1_uc010dkm.1_Missense_Mutation_p.R36K|TGIF1_uc002kly.2_Missense_Mutation_p.R36K|TGIF1_uc002kma.2_Missense_Mutation_p.R16K|TGIF1_uc002kmb.2_Missense_Mutation_p.R16K|TGIF1_uc002kmc.2_Missense_Mutation_p.R16K NM_170695 NP_733796 Q15583 TGIF1_HUMAN TG-interacting factor isoform a 165 Homeobox; TALE-type.|Poly-Arg. negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Esophageal squamous(4;0.0859) Colorectal(8;0.0104) TCAGGCAAGAGAAGGAGAAGG 0.512 85 173 --- --- --- --- PASS ARHGAP28 79822 broad.mit.edu 37 18 6859867 6859867 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:6859867A>T uc010wzi.1 + 4 404 c.166A>T c.(166-168)AGT>TGT p.S56C ARHGAP28_uc002knc.2_Missense_Mutation_p.S181C|ARHGAP28_uc002knd.2_Missense_Mutation_p.S74C|ARHGAP28_uc002kne.2_Missense_Mutation_p.S74C|ARHGAP28_uc002knf.2_Missense_Mutation_p.S65C B4DXL2 B4DXL2_HUMAN SubName: Full=Putative uncharacterized protein ARHGAP28; 56 signal transduction intracellular pancreas(1) 1 Colorectal(10;0.168) TAAAGAAGGGAGTTTTGCGGT 0.438 28 70 --- --- --- --- PASS ARHGAP28 79822 broad.mit.edu 37 18 6873493 6873493 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:6873493C>T uc010wzi.1 + 7 747 c.509C>T c.(508-510)TCT>TTT p.S170F ARHGAP28_uc002knc.2_Missense_Mutation_p.S295F|ARHGAP28_uc002knd.2_Missense_Mutation_p.S188F|ARHGAP28_uc002kne.2_Missense_Mutation_p.S188F|ARHGAP28_uc002knf.2_Missense_Mutation_p.S179F B4DXL2 B4DXL2_HUMAN SubName: Full=Putative uncharacterized protein ARHGAP28; 170 signal transduction intracellular pancreas(1) 1 Colorectal(10;0.168) CGCCATCTCTCTCTGATTGAA 0.378 30 71 --- --- --- --- PASS LRRC30 339291 broad.mit.edu 37 18 7231207 7231207 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:7231207G>A uc010wzk.1 + 1 71 c.71G>A c.(70-72)AGA>AAA p.R24K NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 24 ovary(1)|liver(1) 2 ACGGGGAGGAGACAGAAGTTT 0.617 17 26 --- --- --- --- PASS PTPRM 5797 broad.mit.edu 37 18 8069870 8069870 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:8069870C>T uc002knn.3 + 8 1822 c.1319C>T c.(1318-1320)TCA>TTA p.S440L PTPRM_uc010dkv.2_Missense_Mutation_p.S440L|PTPRM_uc010wzl.1_Missense_Mutation_p.S227L NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 440 Fibronectin type-III 2.|Extracellular (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) ACAGAAAACTCACACCCTCAA 0.468 7 18 --- --- --- --- PASS PTPRM 5797 broad.mit.edu 37 18 8380381 8380381 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:8380381C>T uc002knn.3 + 27 4338 c.3835C>T c.(3835-3837)CAC>TAC p.H1279Y PTPRM_uc010dkv.2_Missense_Mutation_p.H1292Y|PTPRM_uc010wzl.1_Missense_Mutation_p.H1066Y NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 1279 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) CCTGGATTATCACTGCACATC 0.453 20 21 --- --- --- --- PASS PPP4R1 9989 broad.mit.edu 37 18 9550286 9550286 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:9550286G>A uc002koe.1 - 17 2520 c.2402C>T c.(2401-2403)TCC>TTC p.S801F PPP4R1_uc002kof.2_Missense_Mutation_p.S218F|PPP4R1_uc010wzo.1_Missense_Mutation_p.S647F|PPP4R1_uc002kod.1_Missense_Mutation_p.S784F NM_001042388 NP_001035847 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 801 HEAT 13. protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity skin(1) 1 CAACTTGTAGGAAATCCAACG 0.378 32 59 --- --- --- --- PASS FAM38B 63895 broad.mit.edu 37 18 10680351 10680351 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:10680351C>T uc002kor.3 - 10 1469 c.1329G>A c.(1327-1329)CTG>CTA p.L443L FAM38B_uc002koq.2_Silent_p.L278L NM_022068 NP_071351 Q9H5I5 PIEZ2_HUMAN family with sequence similarity 38, member B 2486 integral to membrane ion channel activity ovary(1) 1 CATAATTTTCCAGAAATTGCA 0.378 13 49 --- --- --- --- PASS SPIRE1 56907 broad.mit.edu 37 18 12506584 12506584 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:12506584C>T uc002kre.2 - 6 911 c.864G>A c.(862-864)AAG>AAA p.K288K SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Silent_p.K168K|SPIRE1_uc010wzx.1_Silent_p.K91K|SPIRE1_uc010wzy.1_Silent_p.K288K NM_001128626 NP_001122098 Q08AE8 SPIR1_HUMAN spire homolog 1 isoform a 288 cytoskeleton|perinuclear region of cytoplasm actin binding 0 GCTCTTGGACCTTCTTAAGTT 0.433 51 91 --- --- --- --- PASS SEH1L 81929 broad.mit.edu 37 18 12982531 12982531 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:12982531C>T uc002krr.2 + 7 914 c.776C>T c.(775-777)TCC>TTC p.S259F SEH1L_uc002krq.2_Missense_Mutation_p.S259F NM_031216 NP_112493 Q96EE3 SEH1_HUMAN sec13-like protein isoform 2 259 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex 0 GAACTGACTTCCTCTGGTGGG 0.323 6 35 --- --- --- --- PASS C18orf1 753 broad.mit.edu 37 18 13621131 13621131 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:13621131C>T uc002ksa.2 + 5 865 c.197C>T c.(196-198)GCC>GTC p.A66V C18orf1_uc002ksb.2_Missense_Mutation_p.A66V|C18orf1_uc002kse.2_Missense_Mutation_p.A29V|C18orf1_uc002ksf.2_Missense_Mutation_p.A29V|C18orf1_uc002ksg.1_5'UTR|C18orf1_uc002ksh.1_Missense_Mutation_p.A8V|C18orf1_uc002ksi.1_Missense_Mutation_p.A8V NM_181481 NP_852146 O15165 CR001_HUMAN hypothetical protein LOC753 isoform alpha 1 66 Helical; (Potential). integral to membrane|plasma membrane ovary(2)|skin(1) 3 READ - Rectum adenocarcinoma(73;0.0642) CTGGAGTTCGCCCAAATCATC 0.592 32 58 --- --- --- --- PASS RNMT 8731 broad.mit.edu 37 18 13737115 13737115 + Silent SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:13737115T>C uc002ksk.1 + 4 727 c.660T>C c.(658-660)ATT>ATC p.I220I RNMT_uc002ksl.1_Silent_p.I220I|RNMT_uc002ksm.1_Silent_p.I220I|RNMT_uc010dlk.2_Silent_p.I220I|RNMT_uc010xae.1_RNA NM_003799 NP_003790 O43148 MCES_HUMAN RNA (guanine-7-) methyltransferase 220 mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm mRNA (guanine-N7-)-methyltransferase activity|RNA binding 0 AAGGAAGAATTAACAAGCTAG 0.333 26 34 --- --- --- --- PASS MC2R 4158 broad.mit.edu 37 18 13884700 13884700 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:13884700G>A uc002ksp.1 - 2 995 c.818C>T c.(817-819)CCC>CTC p.P273L NM_000529 NP_000520 Q01718 ACTHR_HUMAN melanocortin 2 receptor 273 Helical; Name=7; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding ovary(4)|skin(1) 5 Corticotropin(DB01285)|Cosyntropin(DB01284) ATATATGAAGGGGTCAATGAC 0.498 24 53 --- --- --- --- PASS ROCK1 6093 broad.mit.edu 37 18 18571194 18571194 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:18571194C>T uc002kte.2 - 18 3027 c.2086G>A c.(2086-2088)GCT>ACT p.A696T NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 696 Glu-rich.|Interaction with FHOD1. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) GTTAAACGAGCTTTGGTTACT 0.294 11 51 --- --- --- --- PASS GATA6 2627 broad.mit.edu 37 18 19780731 19780731 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:19780731C>T uc002ktt.1 + 7 1998 c.1733C>T c.(1732-1734)GCC>GTC p.A578V GATA6_uc002ktu.1_Missense_Mutation_p.A578V NM_005257 NP_005248 Q92908 GATA6_HUMAN GATA binding protein 6 578 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(3) 3 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) GCCTCGCCGGCCGAAGTCACG 0.672 8 12 --- --- --- --- PASS GATA6 2627 broad.mit.edu 37 18 19780732 19780732 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:19780732C>T uc002ktt.1 + 7 1999 c.1734C>T c.(1732-1734)GCC>GCT p.A578A GATA6_uc002ktu.1_Silent_p.A578A NM_005257 NP_005248 Q92908 GATA6_HUMAN GATA binding protein 6 578 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(3) 3 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) CCTCGCCGGCCGAAGTCACGT 0.667 7 12 --- --- --- --- PASS IMPACT 55364 broad.mit.edu 37 18 22023101 22023101 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:22023101G>A uc002kvh.3 + 7 691 c.579G>A c.(577-579)GTG>GTA p.V193V IMPACT_uc002kvg.3_Silent_p.V175V NM_018439 NP_060909 Q9P2X3 IMPCT_HUMAN Impact homolog 193 0 all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) TGGCTCCAGTGGTTTGTCCCA 0.363 20 43 --- --- --- --- PASS IMPACT 55364 broad.mit.edu 37 18 22023102 22023102 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:22023102G>A uc002kvh.3 + 7 692 c.580G>A c.(580-582)GTT>ATT p.V194I IMPACT_uc002kvg.3_Missense_Mutation_p.V176I NM_018439 NP_060909 Q9P2X3 IMPCT_HUMAN Impact homolog 194 0 all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) GGCTCCAGTGGTTTGTCCCAA 0.363 20 43 --- --- --- --- PASS ZNF521 25925 broad.mit.edu 37 18 22806088 22806088 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:22806088C>T uc002kvk.2 - 4 2041 c.1794G>A c.(1792-1794)GGG>GGA p.G598G ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.G598G|ZNF521_uc002kvl.2_Silent_p.G378G NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 598 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TGGATTTCTTCCCATTGTGGA 0.453 T PAX5 ALL 8 25 --- --- --- --- PASS ZNF521 25925 broad.mit.edu 37 18 22806243 22806243 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:22806243G>A uc002kvk.2 - 4 1886 c.1639C>T c.(1639-1641)CCA>TCA p.P547S ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.P547S|ZNF521_uc002kvl.2_Missense_Mutation_p.P327S NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 547 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) CCAAGCACTGGAGACCCAAAT 0.443 T PAX5 ALL 17 50 --- --- --- --- PASS ZNF521 25925 broad.mit.edu 37 18 22807069 22807069 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:22807069T>A uc002kvk.2 - 4 1060 c.813A>T c.(811-813)GAA>GAT p.E271D ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.E271D|ZNF521_uc002kvl.2_Missense_Mutation_p.E51D NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 271 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TTGGGGAGCATTCGGGGTGGC 0.547 T PAX5 ALL 12 48 --- --- --- --- PASS AQP4 361 broad.mit.edu 37 18 24436323 24436323 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:24436323C>T uc002kwa.2 - 5 887 c.824G>A c.(823-825)GGA>GAA p.G275E AQP4_uc002kvz.2_Missense_Mutation_p.G253E NM_001650 NP_001641 P55087 AQP4_HUMAN aquaporin 4 isoform a 275 Cytoplasmic (Potential). cellular response to interferon-gamma|excretion|nervous system development cytoplasm|external side of plasma membrane|integral to plasma membrane water channel activity 0 all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124) CATGTAGCTTCCTTTTGTTTG 0.488 38 81 --- --- --- --- PASS CDH2 1000 broad.mit.edu 37 18 25568577 25568577 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:25568577C>T uc002kwg.2 - 11 2111 c.1652G>A c.(1651-1653)GGA>GAA p.G551E CDH2_uc010xbn.1_Missense_Mutation_p.G520E NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 551 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 AGTTATTTGTCCATTCACAGG 0.308 9 16 --- --- --- --- PASS TTR 7276 broad.mit.edu 37 18 29178598 29178598 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:29178598C>T uc002kwx.3 + 4 540 c.404C>T c.(403-405)TCC>TTC p.S135F NM_000371 NP_000362 P02766 TTHY_HUMAN transthyretin precursor 135 Thyroid hormone binding. transport cytoplasm hormone activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(10;0.00523) Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279) AGCCCCTACTCCTATTCCACC 0.557 15 35 --- --- --- --- PASS TTR 7276 broad.mit.edu 37 18 29178599 29178599 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:29178599C>T uc002kwx.3 + 4 541 c.405C>T c.(403-405)TCC>TCT p.S135S NM_000371 NP_000362 P02766 TTHY_HUMAN transthyretin precursor 135 Thyroid hormone binding. transport cytoplasm hormone activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(10;0.00523) Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279) GCCCCTACTCCTATTCCACCA 0.552 15 33 --- --- --- --- PASS B4GALT6 9331 broad.mit.edu 37 18 29206995 29206995 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:29206995C>T uc002kwz.3 - 7 1163 c.866G>A c.(865-867)GGA>GAA p.G289E B4GALT6_uc010dma.2_Missense_Mutation_p.G250E|B4GALT6_uc010dmb.2_Missense_Mutation_p.G250E|B4GALT6_uc002kwy.3_5'Flank NM_004775 NP_004766 Q9UBX8 B4GT6_HUMAN beta-1,4-galactosyltransferase 6 289 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding 0 OV - Ovarian serous cystadenocarcinoma(10;0.00791) TCCTCCCCATCCCCAGAAGGC 0.338 12 36 --- --- --- --- PASS FAM59A 64762 broad.mit.edu 37 18 29850233 29850233 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:29850233C>T uc002kxl.2 - 5 1736 c.1680G>A c.(1678-1680)CAG>CAA p.Q560Q FAM59A_uc002kxk.1_Silent_p.Q560Q NM_022751 NP_073588 Q9H706 FA59A_HUMAN family with sequence similarity 59, member A 560 Pro-rich. ovary(1)|skin(1) 2 GAGAGCGAGTCTGTTGCCGCG 0.592 5 15 --- --- --- --- PASS KLHL14 57565 broad.mit.edu 37 18 30275436 30275436 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:30275436C>T uc002kxm.1 - 4 1537 c.1149G>A c.(1147-1149)TGG>TGA p.W383* KLHL14_uc010dmd.1_5'UTR NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN kelch-like 14 383 Kelch 2. cytosol|endoplasmic reticulum membrane ovary(1) 1 CATTCGGATTCCACTGGTCCT 0.413 9 15 --- --- --- --- PASS C18orf34 374864 broad.mit.edu 37 18 30795606 30795606 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:30795606C>T uc002kxn.2 - 18 2128 c.1986G>A c.(1984-1986)ATG>ATA p.M662I C18orf34_uc010dme.1_Missense_Mutation_p.M176I|C18orf34_uc010xbr.1_Missense_Mutation_p.M662I|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.M624I|C18orf34_uc002kxp.2_Missense_Mutation_p.M662I NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 662 Potential. ovary(1) 1 CATAAAAAATCATTGTCTTAC 0.254 8 25 --- --- --- --- PASS C18orf34 374864 broad.mit.edu 37 18 30873188 30873188 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:30873188C>T uc002kxn.2 - 11 1253 c.1111G>A c.(1111-1113)GAA>AAA p.E371K C18orf34_uc010xbr.1_Missense_Mutation_p.E371K|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.E371K|C18orf34_uc002kxp.2_Missense_Mutation_p.E371K NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 371 Potential. ovary(1) 1 TCAGTCACTTCCTCTTCCTTC 0.289 10 24 --- --- --- --- PASS SYT4 6860 broad.mit.edu 37 18 40850610 40850610 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:40850610G>A uc002law.2 - 4 1343 c.974C>T c.(973-975)CCC>CTC p.P325L SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Missense_Mutation_p.P307L|SYT4_uc010dnh.2_Intron NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN synaptotagmin IV 325 C2 2.|Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity skin(5) 5 TTTGACATAGGGATCTGCAGT 0.443 13 43 --- --- --- --- PASS SYT4 6860 broad.mit.edu 37 18 40854007 40854007 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:40854007C>T uc002law.2 - 2 756 c.387G>A c.(385-387)GGG>GGA p.G129G SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Silent_p.G111G|SYT4_uc010dnh.2_Intron NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN synaptotagmin IV 129 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity skin(5) 5 ACTCTTTTTCCCCTTCTAAAA 0.433 15 45 --- --- --- --- PASS SYT4 6860 broad.mit.edu 37 18 40854008 40854008 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:40854008C>T uc002law.2 - 2 755 c.386G>A c.(385-387)GGG>GAG p.G129E SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Missense_Mutation_p.G111E|SYT4_uc010dnh.2_Intron NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN synaptotagmin IV 129 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity skin(5) 5 CTCTTTTTCCCCTTCTAAAAA 0.438 16 45 --- --- --- --- PASS RNF165 494470 broad.mit.edu 37 18 44027630 44027630 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:44027630C>T uc002lcb.1 + 4 641 c.590C>T c.(589-591)CCC>CTC p.P197L RNF165_uc002lby.1_Missense_Mutation_p.P130L|RNF165_uc010dnn.1_5'UTR NM_152470 NP_689683 Q6ZSG1 RN165_HUMAN ring finger protein 165 197 zinc ion binding 0 READ - Rectum adenocarcinoma(1;0.0873) CACCACTTTCCCAGAAACTCC 0.572 37 80 --- --- --- --- PASS MYO5B 4645 broad.mit.edu 37 18 47404178 47404178 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:47404178G>A uc002leb.2 - 25 3639 c.3351C>T c.(3349-3351)TCC>TCT p.S1117S MYO5B_uc002lea.2_Silent_p.S258S NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 1117 Potential. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) TCTCAGATGTGGAGATGGAGG 0.502 17 34 --- --- --- --- PASS MAPK4 5596 broad.mit.edu 37 18 48241502 48241502 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:48241502C>T uc002lev.2 + 3 1600 c.600C>T c.(598-600)CTC>CTT p.L200L MAPK4_uc010xdm.1_5'UTR|MAPK4_uc010doz.2_Silent_p.L200L NM_002747 NP_002738 P31152 MK04_HUMAN mitogen-activated protein kinase 4 200 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(2) 6 Colorectal(6;0.0297) Colorectal(21;0.156) CACGACTGCTCCTTTCCCCCA 0.502 9 42 --- --- --- --- PASS DCC 1630 broad.mit.edu 37 18 50432545 50432545 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:50432545C>T uc002lfe.1 + 3 1131 c.544C>T c.(544-546)CCA>TCA p.P182S DCC_uc010xdr.1_Missense_Mutation_p.P30S NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 182 Extracellular (Potential).|Ig-like C2-type 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGACCTGACTCCAATCCCAGG 0.547 21 47 --- --- --- --- PASS DCC 1630 broad.mit.edu 37 18 50432550 50432550 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:50432550C>T uc002lfe.1 + 3 1136 c.549C>T c.(547-549)ATC>ATT p.I183I DCC_uc010xdr.1_Silent_p.I31I NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 183 Extracellular (Potential).|Ig-like C2-type 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TGACTCCAATCCCAGGTGACT 0.542 28 39 --- --- --- --- PASS RAB27B 5874 broad.mit.edu 37 18 52546600 52546600 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:52546600G>A uc002lfr.2 + 3 265 c.154G>A c.(154-156)GTT>ATT p.V52I NM_004163 NP_004154 O00194 RB27B_HUMAN RAB27B, member RAS oncogene family 52 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity 0 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) TATCTTTCAGGTTTATAATGC 0.388 23 40 --- --- --- --- PASS WDR7 23335 broad.mit.edu 37 18 54424311 54424311 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:54424311C>T uc002lgk.1 + 15 2698 c.2487C>T c.(2485-2487)CCC>CCT p.P829P WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Silent_p.P829P NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 829 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) TGCTGAAACCCCACTGCACCG 0.493 17 68 --- --- --- --- PASS ST8SIA3 51046 broad.mit.edu 37 18 55024414 55024414 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:55024414C>T uc002lgn.2 + 3 930 c.573C>T c.(571-573)TTC>TTT p.F191F NM_015879 NP_056963 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide 191 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) GTTGCAATTTCGCCCCTACGG 0.403 17 38 --- --- --- --- PASS ST8SIA3 51046 broad.mit.edu 37 18 55024568 55024568 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:55024568C>T uc002lgn.2 + 3 1084 c.727C>T c.(727-729)CTT>TTT p.L243F NM_015879 NP_056963 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide 243 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) CGGGGCCATTCTTTGGATCCC 0.413 11 29 --- --- --- --- PASS ATP8B1 5205 broad.mit.edu 37 18 55398971 55398971 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:55398971G>T uc002lgw.2 - 1 69 c.69C>A c.(67-69)CCC>CCA p.P23P uc002lgv.1_RNA NM_005603 NP_005594 O43520 AT8B1_HUMAN ATPase, class I, type 8B, member 1 23 Cytoplasmic (Potential). ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(5)|ovary(2)|central_nervous_system(2)|lung(1) 10 Colorectal(73;0.229) CATCACTGTAGGGAACCACTT 0.463 Byler_disease 5 126 --- --- --- --- PASS NEDD4L 23327 broad.mit.edu 37 18 55992303 55992303 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:55992303C>T uc002lgy.2 + 9 863 c.589C>T c.(589-591)CCC>TCC p.P197S NEDD4L_uc002lgz.2_Missense_Mutation_p.P197S|NEDD4L_uc002lgx.2_Missense_Mutation_p.P197S|NEDD4L_uc010xee.1_Missense_Mutation_p.P76S|NEDD4L_uc002lhc.2_Missense_Mutation_p.P189S|NEDD4L_uc002lhd.2_Missense_Mutation_p.P76S|NEDD4L_uc002lhb.2_Missense_Mutation_p.P76S|NEDD4L_uc002lhe.2_Missense_Mutation_p.P189S|NEDD4L_uc002lhf.2_Missense_Mutation_p.P76S|NEDD4L_uc002lhg.2_Missense_Mutation_p.P76S|NEDD4L_uc002lhh.2_Missense_Mutation_p.P76S|NEDD4L_uc010dpm.1_Missense_Mutation_p.P48S NM_001144967 NP_001138439 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally 197 WW 1. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity lung(4) 4 TCCTCTGCCTCCCGGGTGGGA 0.507 41 129 --- --- --- --- PASS ALPK2 115701 broad.mit.edu 37 18 56203022 56203022 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:56203022C>T uc002lhj.3 - 5 4611 c.4397G>A c.(4396-4398)AGA>AAA p.R1466K ALPK2_uc002lhk.1_Missense_Mutation_p.R797K NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 1466 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 TCTGCTGATTCTATTTTCACT 0.498 18 44 --- --- --- --- PASS MC4R 4160 broad.mit.edu 37 18 58038584 58038584 + Silent SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:58038584T>C uc002lie.1 - 1 1418 c.999A>G c.(997-999)TAA>TAG p.*333* NM_005912 NP_005903 P32245 MC4R_HUMAN melanocortin 4 receptor 333 feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process integral to membrane|plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding lung(1) 1 Colorectal(73;0.0946) CTGTCCCCATTTAATATCTGC 0.428 31 59 --- --- --- --- PASS KIAA1468 57614 broad.mit.edu 37 18 59947641 59947641 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:59947641C>T uc002lil.2 + 23 3231 c.3016C>T c.(3016-3018)CCG>TCG p.P1006S KIAA1468_uc010xel.1_Intron|KIAA1468_uc002lim.2_Intron NM_020854 NP_065905 Q9P260 K1468_HUMAN hypothetical protein LOC57614 1006 HEAT 3. binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1) 6 Colorectal(73;0.186) GCGGGTTGCTCCGGCCCTTGT 0.443 7 51 --- --- --- --- PASS SERPINB12 89777 broad.mit.edu 37 18 61233932 61233932 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:61233932C>T uc010xen.1 + 7 906 c.906C>T c.(904-906)TTC>TTT p.F302F SERPINB12_uc010xeo.1_Silent_p.F322F NM_080474 NP_536722 Q96P63 SPB12_HUMAN serine (or cysteine) proteinase inhibitor, clade 302 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity 0 TCCCCCGGTTCACCCTGGAAG 0.448 73 110 --- --- --- --- PASS SERPINB11 89778 broad.mit.edu 37 18 61387384 61387384 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:61387384A>G uc002ljk.3 + 7 675 c.613A>G c.(613-615)AGT>GGT p.S205G SERPINB11_uc010xes.1_Missense_Mutation_p.S30G|SERPINB11_uc010dqd.2_Missense_Mutation_p.S91G|SERPINB11_uc002ljj.3_Missense_Mutation_p.S91G|SERPINB11_uc010dqe.2_Intron|SERPINB11_uc010dqf.2_Intron NM_080475 NP_536723 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B, member 11 205 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1) 1 Esophageal squamous(42;0.129) TTTTCAGCTAAGTGAGGTAAG 0.318 10 16 --- --- --- --- PASS SERPINB2 5055 broad.mit.edu 37 18 61570516 61570516 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:61570516T>A uc010xeu.1 + 9 1558 c.1225T>A c.(1225-1227)TTC>ATC p.F409I SERPINB2_uc002ljo.2_Missense_Mutation_p.F409I|SERPINB2_uc010dqh.2_Missense_Mutation_p.F339I|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron NM_001143818 NP_001137290 P05120 PAI2_HUMAN serine (or cysteine) proteinase inhibitor, clade 409 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity lung(1)|skin(1) 2 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) CATTTTATTTTTCGGCAGATT 0.393 24 38 --- --- --- --- PASS CDH7 1005 broad.mit.edu 37 18 63511245 63511245 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:63511245G>A uc002ljz.2 + 7 1504 c.1179G>A c.(1177-1179)GGG>GGA p.G393G CDH7_uc002lka.2_Silent_p.G393G|CDH7_uc002lkb.2_Silent_p.G393G NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 393 Extracellular (Potential).|Cadherin 4. 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) CCCAGGTTGGGAATATCATTG 0.448 25 65 --- --- --- --- PASS CDH7 1005 broad.mit.edu 37 18 63547737 63547737 + Silent SNP C T T rs116347805 by1000genomes TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:63547737C>T uc002ljz.2 + 12 2290 c.1965C>T c.(1963-1965)GAC>GAT p.D655D CDH7_uc002lkb.2_Silent_p.D655D NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 655 Cytoplasmic (Potential). 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) GATACGATGACGAGGGCGGGG 0.493 14 23 --- --- --- --- PASS CDH7 1005 broad.mit.edu 37 18 63548017 63548017 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:63548017G>A uc002ljz.2 + 12 2570 c.2245G>A c.(2245-2247)GAT>AAT p.D749N CDH7_uc002lkb.2_Missense_Mutation_p.D749N NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 749 Cytoplasmic (Potential). 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) CAGCTCTTTAGATTCCATCAG 0.473 31 42 --- --- --- --- PASS CDH19 28513 broad.mit.edu 37 18 64211222 64211222 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:64211222C>T uc002lkc.1 - 7 1338 c.1200G>A c.(1198-1200)AGG>AGA p.R400R CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Silent_p.R400R|CDH19_uc002lkd.2_Silent_p.R400R NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 400 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) TAGGAGATTTCCTATTGTCTG 0.323 9 35 --- --- --- --- PASS CD226 10666 broad.mit.edu 37 18 67562970 67562970 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:67562970C>T uc010dqo.2 - 3 1141 c.694G>A c.(694-696)GAA>AAA p.E232K CD226_uc002lkm.3_Missense_Mutation_p.E232K NM_006566 NP_006557 Q15762 CD226_HUMAN CD226 molecule precursor 232 Ig-like C2-type 2.|Extracellular (Potential). cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity 0 Esophageal squamous(42;0.129) ACGAAGGTTTCGTTTTCTCCT 0.562 38 89 --- --- --- --- PASS NETO1 81832 broad.mit.edu 37 18 70417313 70417313 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:70417313C>T uc002lkw.2 - 9 1809 c.1525G>A c.(1525-1527)GAT>AAT p.D509N NETO1_uc002lkx.1_Missense_Mutation_p.D508N|NETO1_uc002lky.1_Missense_Mutation_p.D509N NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 509 Cytoplasmic (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) ACGGCTTTATCGTGTCTGGAC 0.438 18 28 --- --- --- --- PASS NETO1 81832 broad.mit.edu 37 18 70532042 70532042 + Splice_Site SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:70532042C>T uc002lkw.2 - 3 504 c.220_splice c.e3+1 p.A74_splice NETO1_uc002lkx.1_Splice_Site_p.A73_splice|NETO1_uc002lky.1_Splice_Site_p.A74_splice|NETO1_uc002lkz.2_Splice_Site_p.A73_splice NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) TCTCCCCTTACCTTCTATGAT 0.448 12 33 --- --- --- --- PASS ZNF516 9658 broad.mit.edu 37 18 74091512 74091512 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:74091512G>A uc010dqx.1 - 3 2793 c.2558C>T c.(2557-2559)CCC>CTC p.P853L ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA NM_014643 NP_055458 Q92618 ZN516_HUMAN zinc finger protein 516 853 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CACTCCCAGGGGAGAAGAGCC 0.627 19 34 --- --- --- --- PASS SALL3 27164 broad.mit.edu 37 18 76754623 76754623 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:76754623G>A uc002lmt.2 + 2 2632 c.2632G>A c.(2632-2634)GAC>AAC p.D878N SALL3_uc010dra.2_Missense_Mutation_p.D485N NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 878 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CCTGAGCAACGACTCCTCGTC 0.687 14 21 --- --- --- --- PASS ATP9B 374868 broad.mit.edu 37 18 76870492 76870492 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:76870492C>T uc002lmx.2 + 3 445 c.431C>T c.(430-432)ACC>ATC p.T144I ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Missense_Mutation_p.T144I|ATP9B_uc002lmy.1_RNA|ATP9B_uc002lmz.1_5'Flank|ATP9B_uc002lmu.2_Missense_Mutation_p.T144I NM_198531 NP_940933 O43861 ATP9B_HUMAN ATPase, class II, type 9B 144 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3) 3 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) AATGTGTTTACCTTTATACCT 0.408 18 21 --- --- --- --- PASS NFATC1 4772 broad.mit.edu 37 18 77211800 77211800 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:77211800C>T uc010xfg.1 + 6 2340 c.1887C>T c.(1885-1887)TTC>TTT p.F629F NFATC1_uc002lnc.1_Silent_p.F629F|NFATC1_uc010xff.1_Missense_Mutation_p.S601L|NFATC1_uc002lnd.2_Silent_p.F629F|NFATC1_uc002lne.2_Silent_p.F157F|NFATC1_uc010xfh.1_Silent_p.F629F|NFATC1_uc010xfi.1_Silent_p.F616F|NFATC1_uc010xfj.1_Silent_p.F157F|NFATC1_uc002lnf.2_Silent_p.F616F|NFATC1_uc002lng.2_Silent_p.F616F|NFATC1_uc010xfk.1_Silent_p.F616F NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 629 intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) AGGTCATTTTCGTGGAGAAAG 0.622 22 48 --- --- --- --- PASS C18orf22 79863 broad.mit.edu 37 18 77805900 77805900 + Silent SNP C T T rs148332133 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr18:77805900C>T uc002lns.2 + 7 915 c.777C>T c.(775-777)CTC>CTT p.L259L C18orf22_uc010drh.2_Missense_Mutation_p.S231L|C18orf22_uc010dri.1_Intron|C18orf22_uc002lnt.2_Silent_p.L92L|uc002lnu.2_5'Flank NM_024805 NP_079081 Q8N0V3 RBFA_HUMAN hypothetical protein LOC79863 precursor 259 rRNA processing mitochondrion 0 all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2) OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376) ATAAAGGGCTCGGGGGCCTGG 0.582 21 42 --- --- --- --- PASS HCN2 610 broad.mit.edu 37 19 608089 608089 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:608089G>A uc002lpe.2 + 4 1397 c.1344G>A c.(1342-1344)ATG>ATA p.M448I NM_001194 NP_001185 Q9UL51 HCN2_HUMAN hyperpolarization activated cyclic 448 Helical; Name=Segment S6; (Potential). cell-cell signaling|muscle contraction voltage-gated potassium channel complex cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity 0 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGCTCAGCATGATTGTGGGTG 0.627 12 31 --- --- --- --- PASS GRIN3B 116444 broad.mit.edu 37 19 1004824 1004824 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:1004824G>A uc002lqo.1 + 3 1324 c.1324G>A c.(1324-1326)GGG>AGG p.G442R NM_138690 NP_619635 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, 442 Extracellular (Potential). ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity 0 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) GTGCCCAGCGGGGCAGCTGTG 0.667 12 12 --- --- --- --- PASS AP3D1 8943 broad.mit.edu 37 19 2102253 2102253 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:2102253G>A uc002luz.2 - 30 3604 c.3381C>T c.(3379-3381)GTC>GTT p.V1127V AP3D1_uc010dsv.2_Silent_p.V217V|AP3D1_uc002luy.2_Silent_p.V1086V|AP3D1_uc002lva.2_Silent_p.V1189V NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 1127 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGTCGACTGAGACAGAGTTCT 0.403 28 45 --- --- --- --- PASS AP3D1 8943 broad.mit.edu 37 19 2121814 2121814 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:2121814G>A uc002luz.2 - 12 1243 c.1020C>T c.(1018-1020)TCC>TCT p.S340S AP3D1_uc002luy.2_Silent_p.S249S|AP3D1_uc002lva.2_Silent_p.S340S NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 340 HEAT 7. eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGTCCTTGTGGGACTGCACGG 0.637 21 53 --- --- --- --- PASS SLC39A3 29985 broad.mit.edu 37 19 2733004 2733004 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:2733004G>A uc002lwg.2 - 3 944 c.690C>T c.(688-690)GCC>GCT p.A230A SLC39A3_uc010xgy.1_Silent_p.A230A NM_144564 NP_653165 Q9BRY0 S39A3_HUMAN solute carrier family 39 (zinc transporter), 230 Helical; (Potential). integral to membrane|plasma membrane zinc ion transmembrane transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCGCCAGCTTGGCCGCGTCCC 0.721 5 10 --- --- --- --- PASS THOP1 7064 broad.mit.edu 37 19 2799764 2799764 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:2799764C>T uc002lwj.2 + 5 719 c.564C>T c.(562-564)TTC>TTT p.F188F THOP1_uc010xgz.1_Silent_p.F67F NM_003249 NP_003240 P52888 THOP1_HUMAN thimet oligopeptidase 1 188 proteolysis cytoplasm metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACACGACCTTCCTGCCCTTCA 0.617 10 35 --- --- --- --- PASS ZNF77 58492 broad.mit.edu 37 19 2934407 2934407 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:2934407G>A uc002lws.3 - 4 849 c.718C>T c.(718-720)CAT>TAT p.H240Y NM_021217 NP_067040 Q15935 ZNF77_HUMAN zinc finger protein 77 240 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) TTACATGCATGGGTTTTCTGC 0.418 12 16 --- --- --- --- PASS TBXA2R 6915 broad.mit.edu 37 19 3600403 3600403 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:3600403C>T uc002lyg.1 - 2 444 c.230G>A c.(229-231)GGG>GAG p.G77E TBXA2R_uc002lye.1_Missense_Mutation_p.G77E NM_001060 NP_001051 P21731 TA2R_HUMAN thromboxane A2 receptor isoform alpha 77 Helical; Name=2; (Potential). platelet activation integral to plasma membrane guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) Ridogrel(DB01207) CACCAGCAGCCCCAGGAAGTC 0.701 6 14 --- --- --- --- PASS ATCAY 85300 broad.mit.edu 37 19 3905454 3905454 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:3905454C>T uc002lyy.3 + 4 589 c.159C>T c.(157-159)TTC>TTT p.F53F ATCAY_uc010xhz.1_Silent_p.F59F NM_033064 NP_149053 Q86WG3 ATCAY_HUMAN caytaxin 53 transport protein binding breast(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183) CGCTAAATTTCAACGGAGCGC 0.488 5 19 --- --- --- --- PASS ANKRD24 170961 broad.mit.edu 37 19 4219746 4219746 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:4219746G>A uc010dtt.1 + 19 3438 c.3162G>A c.(3160-3162)AAG>AAA p.K1054K NM_133475 NP_597732 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 1054 Potential. 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) CCAAGGAGAAGGACAAGAAGG 0.562 6 16 --- --- --- --- PASS ANKRD24 170961 broad.mit.edu 37 19 4219747 4219747 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:4219747G>A uc010dtt.1 + 19 3439 c.3163G>A c.(3163-3165)GAC>AAC p.D1055N NM_133475 NP_597732 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 1055 Potential. 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) CAAGGAGAAGGACAAGAAGGT 0.557 6 17 --- --- --- --- PASS PLIN4 729359 broad.mit.edu 37 19 4511781 4511781 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:4511781C>T uc002mar.1 - 3 2149 c.2149G>A c.(2149-2151)GAC>AAC p.D717N PLIN4_uc010dub.1_5'Flank NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN plasma membrane associated protein, S3-12 717 19.|27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane 0 CAGACGGTGTCCTTGGTACCA 0.577 42 209 --- --- --- --- PASS KDM4B 23030 broad.mit.edu 37 19 5144825 5144825 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:5144825C>T uc002mbq.3 + 21 3159 c.2933C>T c.(2932-2934)TCC>TTC p.S978F KDM4B_uc010xim.1_Missense_Mutation_p.S1012F|KDM4B_uc002mbr.3_Missense_Mutation_p.S736F NM_015015 NP_055830 O94953 KDM4B_HUMAN jumonji domain containing 2B 978 Tudor 2. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding lung(1) 1 GGACCCCCTTCCGAGGGGGAG 0.622 8 24 --- --- --- --- PASS TMEM146 257062 broad.mit.edu 37 19 5772893 5772893 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:5772893C>T uc002mda.2 + 20 1919 c.1858C>T c.(1858-1860)CAG>TAG p.Q620* NM_152784 NP_689997 Q86XM0 TM146_HUMAN transmembrane protein 146 precursor 620 Extracellular (Potential). integral to membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 CCTGACGGCCCAGTCGGCCAT 0.552 9 23 --- --- --- --- PASS RANBP3 8498 broad.mit.edu 37 19 5923310 5923310 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:5923310G>A uc002mdw.2 - 13 1331 c.1104C>T c.(1102-1104)TCC>TCT p.S368S RANBP3_uc002mdv.2_Silent_p.S87S|RANBP3_uc002mdx.2_Silent_p.S363S|RANBP3_uc002mdy.2_Silent_p.S300S|RANBP3_uc002mdz.2_Silent_p.S295S|RANBP3_uc010duq.2_Silent_p.S273S|RANBP3_uc002mea.2_Silent_p.S235S|RANBP3_uc010xix.1_Silent_p.S240S NM_007322 NP_015561 Q9H6Z4 RANB3_HUMAN RAN binding protein 3 isoform RANBP3-d 368 intracellular transport|protein transport cytoplasm|nucleus Ran GTPase binding breast(1) 1 ACTCAGCCAGGGACTCTGAAA 0.537 5 9 --- --- --- --- PASS SLC25A23 79085 broad.mit.edu 37 19 6454034 6454034 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:6454034G>A uc002mex.1 - 7 1003 c.861C>T c.(859-861)TCC>TCT p.S287S SLC25A23_uc002mev.2_RNA|SLC25A23_uc010xjd.1_Silent_p.S104S NM_024103 NP_077008 Q9BV35 SCMC3_HUMAN solute carrier family 25, member 23 287 Helical; Name=3; (Potential).|Solcar 2. transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding ovary(1)|pancreas(1) 2 CACCAGCCAGGGAGCCAGCCA 0.642 6 5 --- --- --- --- PASS TUBB4 10382 broad.mit.edu 37 19 6495841 6495841 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:6495841C>T uc002mfg.1 - 4 776 c.669G>A c.(667-669)GGG>GGA p.G223G TUBB4_uc002mff.1_Silent_p.G151G|MIR220B_hsa-mir-220b|MI0005529_5'Flank NM_006087 NP_006078 P04350 TBB4_HUMAN tubulin, beta 4 223 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(2) 2 Hepatocellular(1079;0.00213)|Renal(1328;0.0183) Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155) GGTTGAGGTCCCCGTAGGTGG 0.627 19 51 --- --- --- --- PASS TUBB4 10382 broad.mit.edu 37 19 6495842 6495842 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:6495842C>T uc002mfg.1 - 4 775 c.668G>A c.(667-669)GGG>GAG p.G223E TUBB4_uc002mff.1_Missense_Mutation_p.G151E|MIR220B_hsa-mir-220b|MI0005529_5'Flank NM_006087 NP_006078 P04350 TBB4_HUMAN tubulin, beta 4 223 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(2) 2 Hepatocellular(1079;0.00213)|Renal(1328;0.0183) Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155) GTTGAGGTCCCCGTAGGTGGG 0.632 20 52 --- --- --- --- PASS C3 718 broad.mit.edu 37 19 6697786 6697786 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:6697786G>A uc002mfm.2 - 20 2522 c.2460C>T c.(2458-2460)CCC>CCT p.P820P NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 820 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TGACCTCGAAGGGGTCTGCCA 0.562 7 10 --- --- --- --- PASS SH2D3A 10045 broad.mit.edu 37 19 6760858 6760858 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:6760858C>T uc002mft.2 - 3 404 c.210G>A c.(208-210)CGG>CGA p.R70R SH2D3A_uc010xjg.1_Intron NM_005490 NP_005481 Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 70 SH2. JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(2) 2 GTCGGCCTGGCCGGGGACGCA 0.647 11 26 --- --- --- --- PASS INSR 3643 broad.mit.edu 37 19 7267435 7267435 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:7267435C>T uc002mgd.1 - 2 682 c.573G>A c.(571-573)AAG>AAA p.K191K INSR_uc002mge.1_Silent_p.K191K|INSR_uc002mgf.2_Silent_p.K191K NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 191 Cys-rich. activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGGTCTTGCCCTTCGCGGTAC 0.542 16 21 --- --- --- --- PASS INSR 3643 broad.mit.edu 37 19 7267448 7267448 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:7267448G>A uc002mgd.1 - 2 669 c.560C>T c.(559-561)CCG>CTG p.P187L INSR_uc002mge.1_Missense_Mutation_p.P187L|INSR_uc002mgf.2_Missense_Mutation_p.P187L NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 187 Cys-rich. activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CGCGGTACCCGGACAGATGTC 0.537 5 34 --- --- --- --- PASS INSR 3643 broad.mit.edu 37 19 7267449 7267449 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:7267449G>A uc002mgd.1 - 2 668 c.559C>T c.(559-561)CCG>TCG p.P187S INSR_uc002mge.1_Missense_Mutation_p.P187S|INSR_uc002mgf.2_Missense_Mutation_p.P187S NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 187 Cys-rich. activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCGGTACCCGGACAGATGTCT 0.532 5 32 --- --- --- --- PASS C19orf45 374877 broad.mit.edu 37 19 7573114 7573114 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:7573114C>T uc002mgm.2 + 9 1457 c.1316C>T c.(1315-1317)CCC>CTC p.P439L NM_198534 NP_940936 Q8NA69 CS045_HUMAN hypothetical protein LOC374877 439 0 CACATGGAGCCCCCTCTGGGT 0.592 5 15 --- --- --- --- PASS TRAPPC5 126003 broad.mit.edu 37 19 7747619 7747619 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:7747619C>T uc002mhi.1 + 2 550 c.480C>T c.(478-480)GTC>GTT p.V160V TRAPPC5_uc002mhj.1_Silent_p.V160V|TRAPPC5_uc002mhk.1_Silent_p.V160V NM_001042462 NP_001035927 Q8IUR0 TPPC5_HUMAN trafficking protein particle complex 5 160 vesicle-mediated transport endoplasmic reticulum guanylate cyclase activity|heme binding 0 CTGCCAAGGTCACGGCGCACT 0.652 4 4 --- --- --- --- PASS CLEC4M 10332 broad.mit.edu 37 19 7831059 7831059 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:7831059C>T uc002mih.2 + 5 799 c.681C>T c.(679-681)ATC>ATT p.I227I CLEC4M_uc010xjv.1_Silent_p.I222I|CLEC4M_uc002mhy.2_Silent_p.I194I|CLEC4M_uc010xjw.1_Intron|CLEC4M_uc010dvt.2_Silent_p.I204I|CLEC4M_uc010dvs.2_Silent_p.I226I|CLEC4M_uc010xjx.1_Silent_p.I199I|CLEC4M_uc002mhz.2_Intron|CLEC4M_uc002mic.2_Silent_p.I222I|CLEC4M_uc002mia.2_Intron NM_001144910 NP_001138382 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M isoform 250 Extracellular (Probable).|7.|7 X approximate tandem repeats. cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding pancreas(1) 1 AGCAGCAAATCTATCAAGAAC 0.483 17 38 --- --- --- --- PASS LRRC8E 80131 broad.mit.edu 37 19 7963609 7963609 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:7963609C>T uc002mir.2 + 3 303 c.202C>T c.(202-204)CCG>TCG p.P68S NM_025061 NP_079337 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member 68 integral to membrane lung(1)|pancreas(1) 2 ATCAGAGGCCCCGTGCCAGCA 0.493 30 96 --- --- --- --- PASS FBN3 84467 broad.mit.edu 37 19 8151968 8151968 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:8151968G>A uc002mjf.2 - 53 6768 c.6747C>T c.(6745-6747)GGC>GGT p.G2249G FBN3_uc002mje.2_Silent_p.G88G NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 2249 EGF-like 36; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 TACCTGTGCAGCCCTCCCCAG 0.567 7 25 --- --- --- --- PASS FBN3 84467 broad.mit.edu 37 19 8201112 8201112 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:8201112G>T uc002mjf.2 - 11 1448 c.1427C>A c.(1426-1428)CCG>CAG p.P476Q NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 476 EGF-like 4; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 CTGGAAGCCCGGGTAGCACCG 0.647 4 33 --- --- --- --- PASS PRAM1 84106 broad.mit.edu 37 19 8564087 8564087 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:8564087G>A uc002mkd.2 - 2 625 c.605C>T c.(604-606)CCG>CTG p.P202L PRAM1_uc002mkc.2_Missense_Mutation_p.P202L NM_032152 NP_115528 Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 250 Pro-rich. lipid binding|protein binding 0 CGGGGACCTCGGGGTAGCCTC 0.647 5 12 --- --- --- --- PASS MYO1F 4542 broad.mit.edu 37 19 8595157 8595157 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:8595157C>T uc002mkg.2 - 21 2365 c.2251G>A c.(2251-2253)GAG>AAG p.E751K NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 751 unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 TGACGCAGCTCGGGCCGCTCC 0.632 17 71 --- --- --- --- PASS ACTL9 284382 broad.mit.edu 37 19 8808975 8808975 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:8808975G>A uc002mkl.2 - 1 198 c.77C>T c.(76-78)CCC>CTC p.P26L NM_178525 NP_848620 Q8TC94 ACTL9_HUMAN actin-like 9 26 cytoplasm|cytoskeleton large_intestine(2)|pancreas(1) 3 CACCACGTTGGGACTGGGGTT 0.667 8 33 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 8969305 8969305 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:8969305G>A uc002mkp.2 - 79 43243 c.43039C>T c.(43039-43041)CAG>TAG p.Q14347* MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Nonsense_Mutation_p.Q1147*|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTGTTCCTCTGGTAATTGGTG 0.507 17 63 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 8997448 8997448 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:8997448C>T uc002mkp.2 - 59 41178 c.40974G>A c.(40972-40974)AGG>AGA p.R13658R MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.R475R|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13660 Extracellular (Potential).|SEA 11. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGTTGAACTTCCTGGAGCCAG 0.572 32 60 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9002624 9002624 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:9002624G>A uc002mkp.2 - 51 40396 c.40192C>T c.(40192-40194)CGT>TGT p.R13398C MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.R215C|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGGTCAGGACGATGGGTGCAG 0.572 7 32 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9003653 9003653 + Silent SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:9003653A>G uc002mkp.2 - 49 40191 c.39987T>C c.(39985-39987)TTT>TTC p.F13329F MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.F146F|MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13331 Extracellular (Potential).|SEA 9. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TAGTGATGGTAAAATTGAGGG 0.488 37 67 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9013861 9013861 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:9013861G>A uc002mkp.2 - 33 38733 c.38529C>T c.(38527-38529)TCC>TCT p.S12843S MUC16_uc010xki.1_5'Flank NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12845 Extracellular (Potential). Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGCTGGGGAGGGAGGATGGAG 0.478 5 22 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9019293 9019293 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:9019293A>T uc002mkp.2 - 23 37798 c.37594T>A c.(37594-37596)TCC>ACC p.S12532T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12534 Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTTGGGAGGGAGAATGGAGTC 0.458 6 28 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9033707 9033707 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:9033707G>A uc002mkp.2 - 9 36434 c.36230C>T c.(36229-36231)ACC>ATC p.T12077I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12079 SEA 1.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GAAGTTGAGGGTGAATGGCAC 0.532 22 52 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9057848 9057848 + Missense_Mutation SNP C G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:9057848C>G uc002mkp.2 - 3 29802 c.29598G>C c.(29596-29598)AGG>AGC p.R9866S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9868 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTGTCGGAATCCTCCTAGTCT 0.468 18 73 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9060341 9060341 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:9060341G>A uc002mkp.2 - 3 27309 c.27105C>T c.(27103-27105)TCC>TCT p.S9035S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9037 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTTGTGTCATGGAGTCCTCAA 0.532 13 57 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9061307 9061307 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:9061307G>A uc002mkp.2 - 3 26343 c.26139C>T c.(26137-26139)ATC>ATT p.I8713I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8715 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GAGAGGTACTGATCTCCCTTA 0.493 14 34 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9062148 9062148 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:9062148C>T uc002mkp.2 - 3 25502 c.25298G>A c.(25297-25299)GGA>GAA p.G8433E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8435 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GACAGTGCTTCCCTCTGTGGC 0.522 24 39 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9063550 9063550 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:9063550C>T uc002mkp.2 - 3 24100 c.23896G>A c.(23896-23898)GAA>AAA p.E7966K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7968 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTAGTTTTTTCCAGAAGGGGA 0.468 11 29 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9063715 9063715 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:9063715G>A uc002mkp.2 - 3 23935 c.23731C>T c.(23731-23733)CCT>TCT p.P7911S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7913 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GCCCCTAAAGGACTTGTATGG 0.453 23 71 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9072915 9072915 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:9072915G>A uc002mkp.2 - 3 14735 c.14531C>T c.(14530-14532)TCA>TTA p.S4844L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4846 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGTAGAATGTGATTCAAATGC 0.453 13 48 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9073638 9073638 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:9073638C>T uc002mkp.2 - 3 14012 c.13808G>A c.(13807-13809)CGA>CAA p.R4603Q NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4605 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.R4603Q(1)|p.R236Q(1) lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTTCTCTTTTCGTCCAGCAGT 0.502 8 29 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9073897 9073897 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:9073897C>T uc002mkp.2 - 3 13753 c.13549G>A c.(13549-13551)GAG>AAG p.E4517K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4519 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GCCAGTATCTCATTTGATGGA 0.433 12 28 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9074626 9074626 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:9074626G>A uc002mkp.2 - 3 13024 c.12820C>T c.(12820-12822)CCA>TCA p.P4274S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4276 Thr-rich.|Extracellular (Potential).|Ser-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTAACCAATGGAGATGTGGCT 0.478 15 45 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9077289 9077289 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:9077289G>A uc002mkp.2 - 3 10361 c.10157C>T c.(10156-10158)TCC>TTC p.S3386F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3387 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTTATGTTTGGATTTATCTGT 0.468 28 107 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9091240 9091240 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:9091240G>A uc002mkp.2 - 1 779 c.575C>T c.(574-576)CCA>CTA p.P192L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 192 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGTTTTCATTGGAGATGTGAT 0.463 18 43 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9091756 9091756 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:9091756C>T uc002mkp.2 - 1 263 c.59G>A c.(58-60)GGG>GAG p.G20E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 20 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GCTCCTGCTCCCTGTCATCAA 0.517 4 15 --- --- --- --- PASS OR1M1 125963 broad.mit.edu 37 19 9204664 9204664 + Silent SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:9204664T>C uc010xkj.1 + 1 744 c.744T>C c.(742-744)GTT>GTC p.V248V NM_001004456 NP_001004456 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, 248 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 TGTCTGTGGTTGCTCTCTTCT 0.567 18 68 --- --- --- --- PASS ZNF317 57693 broad.mit.edu 37 19 9271287 9271287 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:9271287C>T uc002mku.2 + 7 1241 c.966C>T c.(964-966)ATC>ATT p.I322I ZNF317_uc002mkv.2_Silent_p.I181I|ZNF317_uc002mkw.2_Silent_p.I290I|ZNF317_uc002mkx.2_Silent_p.I237I|ZNF317_uc002mky.2_Silent_p.I205I NM_020933 NP_065984 Q96PQ6 ZN317_HUMAN zinc finger protein 317 322 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GCCACCTCATCGCACACAAGA 0.587 12 26 --- --- --- --- PASS ZNF559 84527 broad.mit.edu 37 19 9452969 9452969 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:9452969C>T uc002mlg.2 + 7 1489 c.842C>T c.(841-843)TCC>TTC p.S281F ZNF559_uc002mlf.2_Missense_Mutation_p.S50F|ZNF559_uc010dwl.1_Missense_Mutation_p.S50F|ZNF559_uc010xkn.1_Missense_Mutation_p.S273F|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Missense_Mutation_p.S345F|ZNF559_uc010dwk.1_Missense_Mutation_p.S50F|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron NM_032497 NP_115886 Q9BR84 ZN559_HUMAN zinc finger protein 559 281 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TTTGCTTTTTCCCCAGATCTT 0.333 9 31 --- --- --- --- PASS COL5A3 50509 broad.mit.edu 37 19 10084444 10084444 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:10084444G>A uc002mmq.1 - 49 3686 c.3600C>T c.(3598-3600)GCC>GCT p.A1200A NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 1200 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) TCTCACCCACGGCGCCTGGCT 0.602 19 41 --- --- --- --- PASS COL5A3 50509 broad.mit.edu 37 19 10088084 10088084 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:10088084C>T uc002mmq.1 - 43 3277 c.3191G>A c.(3190-3192)GGA>GAA p.G1064E NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 1064 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) TCCAGGGGGTCCCAGAGGCCC 0.657 10 33 --- --- --- --- PASS COL5A3 50509 broad.mit.edu 37 19 10106767 10106767 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:10106767C>T uc002mmq.1 - 15 1594 c.1508G>A c.(1507-1509)GGA>GAA p.G503E NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 503 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) TCCCTCCTCTCCTTTCAGACC 0.577 33 55 --- --- --- --- PASS RDH8 50700 broad.mit.edu 37 19 10132325 10132325 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:10132325G>A uc002mmr.2 + 6 1085 c.836G>A c.(835-837)CGA>CAA p.R279Q NM_015725 NP_056540 Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 279 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity ovary(3)|pancreas(1) 4 Epithelial(33;4.24e-05) Vitamin A(DB00162) CTGTATGTGCGAACGACCCAC 0.627 11 18 --- --- --- --- PASS PDE4A 5141 broad.mit.edu 37 19 10557008 10557008 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:10557008C>T uc002moj.2 + 2 543 c.435C>T c.(433-435)TCC>TCT p.S145S PDE4A_uc002mok.2_Silent_p.S119S|PDE4A_uc002mol.2_Silent_p.S84S NM_001111307 NP_001104777 P27815 PDE4A_HUMAN phosphodiesterase 4A isoform 1 145 signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) GCCGGGAGTCCTTCCTGTACC 0.662 7 16 --- --- --- --- PASS KEAP1 9817 broad.mit.edu 37 19 10602625 10602625 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:10602625G>A uc002moq.1 - 3 1109 c.953C>T c.(952-954)CCC>CTC p.P318L KEAP1_uc002mop.1_Missense_Mutation_p.P36L|KEAP1_uc002mor.1_Missense_Mutation_p.P318L NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 318 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CGCCCGGCAGGGCATCACCTG 0.642 5 20 --- --- --- --- PASS KRI1 65095 broad.mit.edu 37 19 10671754 10671754 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:10671754G>A uc002moy.1 - 8 615 c.606C>T c.(604-606)GCC>GCT p.A202A KRI1_uc002mow.1_5'Flank|KRI1_uc002mox.1_Silent_p.A198A NM_023008 NP_075384 Q8N9T8 KRI1_HUMAN KRI1 homolog 202 Glu-rich. ovary(1) 1 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) CCTCCTCCTGGGCCTGGGGGA 0.612 16 27 --- --- --- --- PASS DNM2 1785 broad.mit.edu 37 19 10893691 10893691 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:10893691C>T uc002mps.1 + 6 908 c.744C>T c.(742-744)ATC>ATT p.I248I DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Silent_p.I248I|DNM2_uc002mpv.1_Silent_p.I248I|DNM2_uc002mpu.1_Silent_p.I248I|DNM2_uc010dxl.1_Silent_p.I248I|DNM2_uc002mpw.2_5'UTR NM_001005361 NP_001005361 P50570 DYN2_HUMAN dynamin 2 isoform 2 248 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding central_nervous_system(2)|skin(2)|ovary(1)|breast(1) 6 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) AGAAGGACATCCGTGCAGCAC 0.607 6 23 --- --- --- --- PASS SMARCA4 6597 broad.mit.edu 37 19 11094861 11094861 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:11094861C>T uc002mqf.3 + 2 318 c.34C>T c.(34-36)CCT>TCT p.P12S SMARCA4_uc010dxp.2_Missense_Mutation_p.P12S|SMARCA4_uc010dxo.2_Missense_Mutation_p.P12S|SMARCA4_uc002mqg.1_Missense_Mutation_p.P12S|SMARCA4_uc010dxq.2_Missense_Mutation_p.P12S|SMARCA4_uc010dxr.2_Missense_Mutation_p.P12S|SMARCA4_uc002mqj.3_Missense_Mutation_p.P12S|SMARCA4_uc010dxs.2_Missense_Mutation_p.P12S|SMARCA4_uc002mqe.2_Missense_Mutation_p.P12S NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 12 Necessary for interaction with SS18L1/CREST (By similarity). chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) GGGCGGAACTCCTCGGCCAGG 0.687 F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 4 15 --- --- --- --- PASS SMARCA4 6597 broad.mit.edu 37 19 11094862 11094862 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:11094862C>T uc002mqf.3 + 2 319 c.35C>T c.(34-36)CCT>CTT p.P12L SMARCA4_uc010dxp.2_Missense_Mutation_p.P12L|SMARCA4_uc010dxo.2_Missense_Mutation_p.P12L|SMARCA4_uc002mqg.1_Missense_Mutation_p.P12L|SMARCA4_uc010dxq.2_Missense_Mutation_p.P12L|SMARCA4_uc010dxr.2_Missense_Mutation_p.P12L|SMARCA4_uc002mqj.3_Missense_Mutation_p.P12L|SMARCA4_uc010dxs.2_Missense_Mutation_p.P12L|SMARCA4_uc002mqe.2_Missense_Mutation_p.P12L NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 12 Necessary for interaction with SS18L1/CREST (By similarity). chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) GGCGGAACTCCTCGGCCAGGT 0.687 F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 4 15 --- --- --- --- PASS DOCK6 57572 broad.mit.edu 37 19 11313129 11313129 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:11313129C>A uc002mqs.3 - 43 5433 c.5392G>T c.(5392-5394)GTC>TTC p.V1798F DOCK6_uc002mqr.3_Missense_Mutation_p.V198F|DOCK6_uc010xlq.1_Missense_Mutation_p.V1137F NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1798 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 ATCTCAACGACGTCGTCGCCA 0.552 8 25 --- --- --- --- PASS EPOR 2057 broad.mit.edu 37 19 11489065 11489065 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:11489065C>T uc002mrj.1 - 8 1258 c.1122G>A c.(1120-1122)TGG>TGA p.W374* EPOR_uc002mrh.2_Nonsense_Mutation_p.W33*|EPOR_uc002mri.2_Nonsense_Mutation_p.W201*|EPOR_uc002mrk.1_Nonsense_Mutation_p.W201*|EPOR_uc002mrl.1_RNA|EPOR_uc010xlx.1_RNA|EPOR_uc010xly.1_Nonsense_Mutation_p.W201* NM_000121 NP_000112 P19235 EPOR_HUMAN erythropoietin receptor precursor 374 Cytoplasmic (Potential). extracellular region|integral to plasma membrane erythropoietin receptor activity|identical protein binding ovary(1) 1 Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) GGGGCAGCAACCATTTGTCCA 0.622 OREG0025254 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 17 --- --- --- --- PASS ZNF823 55552 broad.mit.edu 37 19 11832689 11832689 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:11832689G>A uc002msm.2 - 4 1786 c.1660C>T c.(1660-1662)CCC>TCC p.P554S ZNF823_uc010xmd.1_Missense_Mutation_p.P372S|ZNF823_uc010dyi.1_Missense_Mutation_p.P510S NM_001080493 NP_001073962 P16415 ZN823_HUMAN ZFP-36 for a zinc finger protein 554 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CATTCATAGGGTTTCTCTCCA 0.428 HNSCC(68;0.2) 25 38 --- --- --- --- PASS ZNF441 126068 broad.mit.edu 37 19 11891967 11891967 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:11891967G>A uc010dyj.2 + 4 1522 c.1328G>A c.(1327-1329)GGG>GAG p.G443E ZNF441_uc002msn.3_Missense_Mutation_p.G399E NM_152355 NP_689568 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 443 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ATTCACACTGGGGAGAGACCC 0.388 6 41 --- --- --- --- PASS ZNF441 126068 broad.mit.edu 37 19 11892026 11892026 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:11892026C>T uc010dyj.2 + 4 1581 c.1387C>T c.(1387-1389)CGA>TGA p.R463* ZNF441_uc002msn.3_Nonsense_Mutation_p.R419* NM_152355 NP_689568 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 463 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CAATTACATTCGAGTACATGA 0.388 11 39 --- --- --- --- PASS ZNF441 126068 broad.mit.edu 37 19 11892203 11892203 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:11892203G>A uc010dyj.2 + 4 1758 c.1564G>A c.(1564-1566)GAA>AAA p.E522K ZNF441_uc002msn.3_Missense_Mutation_p.E478K NM_152355 NP_689568 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 522 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TCGAAGACATGAAAGAATTCA 0.413 23 41 --- --- --- --- PASS ZNF439 90594 broad.mit.edu 37 19 11979089 11979089 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:11979089G>A uc002mss.2 + 3 1333 c.1205G>A c.(1204-1206)AGG>AAG p.R402K ZNF439_uc002msr.2_Missense_Mutation_p.R266K NM_152262 NP_689475 Q8NDP4 ZN439_HUMAN zinc finger protein 439 402 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 TATCATGAAAGGACTCACACT 0.438 11 31 --- --- --- --- PASS ZNF700 90592 broad.mit.edu 37 19 12060004 12060004 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:12060004C>T uc002msu.2 + 4 1291 c.1165C>T c.(1165-1167)CGC>TGC p.R389C ZNF700_uc010xme.1_Missense_Mutation_p.R407C|ZNF763_uc010xmf.1_Intron NM_144566 NP_653167 Q9H0M5 ZN700_HUMAN zinc finger protein 700 389 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGGAGAGAAACGCTATAAATG 0.383 14 38 --- --- --- --- PASS ZNF700 90592 broad.mit.edu 37 19 12060728 12060728 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:12060728G>A uc002msu.2 + 4 2015 c.1889G>A c.(1888-1890)AGA>AAA p.R630K ZNF700_uc010xme.1_Missense_Mutation_p.R648K|ZNF763_uc010xmf.1_Intron NM_144566 NP_653167 Q9H0M5 ZN700_HUMAN zinc finger protein 700 630 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAAGCCTTCAGATCTGCCTCA 0.438 14 50 --- --- --- --- PASS ZNF709 163051 broad.mit.edu 37 19 12575525 12575525 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:12575525G>A uc002mtv.3 - 4 1372 c.1211C>T c.(1210-1212)TCC>TTC p.S404F ZNF709_uc002mtw.3_Missense_Mutation_p.S372F|ZNF709_uc002mtx.3_Missense_Mutation_p.S404F NM_152601 NP_689814 Q8N972 ZN709_HUMAN zinc finger protein 709 isoform a 404 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAAGGAACTGGAACAACTGAA 0.403 8 67 --- --- --- --- PASS ZNF791 163049 broad.mit.edu 37 19 12739979 12739979 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:12739979C>T uc002mua.2 + 4 1798 c.1636C>T c.(1636-1638)CAC>TAC p.H546Y ZNF791_uc010xml.1_Missense_Mutation_p.H514Y|ZNF791_uc010dyu.1_Missense_Mutation_p.H437Y|ZNF791_uc010xmm.1_Missense_Mutation_p.H437Y NM_153358 NP_699189 Q3KP31 ZN791_HUMAN zinc finger protein 791 546 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TACAAGAATTCACAATTATGA 0.368 14 42 --- --- --- --- PASS CACNA1A 773 broad.mit.edu 37 19 13566011 13566011 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:13566011C>T uc010dze.2 - 2 545 c.309G>A c.(307-309)ATG>ATA p.M103I CACNA1A_uc002mwy.3_Missense_Mutation_p.M103I NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 103 Helical; Name=S1 of repeat I; (Potential).|I. cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TGGCTAAAATCATATATTCAA 0.483 22 83 --- --- --- --- PASS ASF1B 55723 broad.mit.edu 37 19 14236970 14236970 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:14236970G>A uc002mye.2 - 2 361 c.189C>T c.(187-189)GGC>GGT p.G63G NM_018154 NP_060624 Q9NVP2 ASF1B_HUMAN anti-silencing function 1B 63 Interaction with CHAF1B.|Interaction with histone H3 (By similarity). cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus 0 CTGGCACAGGGCCCACCAGCA 0.478 9 27 --- --- --- --- PASS LPHN1 22859 broad.mit.edu 37 19 14266334 14266334 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:14266334C>T uc010xnn.1 - 19 3442 c.3146G>A c.(3145-3147)TGG>TAG p.W1049* LPHN1_uc010xno.1_Nonsense_Mutation_p.W1044*|uc002myf.2_Intron NM_001008701 NP_001008701 O94910 LPHN1_HUMAN latrophilin 1 isoform 1 precursor 1049 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding ovary(2)|lung(2)|central_nervous_system(1) 5 CCCCAGCGCCCAGGATCTGGG 0.667 7 21 --- --- --- --- PASS DNAJB1 3337 broad.mit.edu 37 19 14629122 14629122 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:14629122C>A uc002myz.1 - 1 80 c.40G>T c.(40-42)GGC>TGC p.G14C DNAJB1_uc010xnr.1_Intron NM_006145 NP_006136 P25685 DNJB1_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 1 14 J. chaperone cofactor-dependent protein refolding|response to unfolded protein cytoplasm|nucleolus heat shock protein binding|unfolded protein binding 0 GBM - Glioblastoma multiforme(1328;0.0476) TCCGACGCGCCGCGGGCCAGG 0.706 3 10 --- --- --- --- PASS ZNF333 84449 broad.mit.edu 37 19 14806396 14806396 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:14806396C>T uc002mzn.2 + 4 280 c.146C>T c.(145-147)CCC>CTC p.P49L ZNF333_uc010dzq.2_Missense_Mutation_p.P49L|ZNF333_uc002mzk.3_5'UTR|ZNF333_uc002mzl.3_Missense_Mutation_p.P49L|ZNF333_uc002mzm.2_Intron|ZNF333_uc010dzr.1_RNA NM_032433 NP_115809 Q96JL9 ZN333_HUMAN zinc finger protein 333 49 KRAB 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 CCATGCAAACCCAGTTGTGTC 0.527 4 17 --- --- --- --- PASS OR7C2 26658 broad.mit.edu 37 19 15053203 15053203 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:15053203G>A uc010xoc.1 + 1 903 c.903G>A c.(901-903)GGG>GGA p.G301G NM_012377 NP_036509 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, 301 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Ovarian(108;0.203) GGTCACTGGGGAGACTCCTCC 0.542 12 20 --- --- --- --- PASS OR7C2 26658 broad.mit.edu 37 19 15053234 15053234 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:15053234G>A uc010xoc.1 + 1 934 c.934G>A c.(934-936)GAG>AAG p.E312K NM_012377 NP_036509 O60412 OR7C2_HUMAN olfactory receptor, family 7, subfamily C, 312 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Ovarian(108;0.203) GTCTCTCAAAGAGGGGACCAT 0.493 7 22 --- --- --- --- PASS CCDC105 126402 broad.mit.edu 37 19 15132449 15132449 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:15132449G>A uc002nae.2 + 5 1162 c.1063G>A c.(1063-1065)GGA>AGA p.G355R NM_173482 NP_775753 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 355 microtubule cytoskeleton organization microtubule ovary(1) 1 TATGACGTTAGGACTGATGAG 0.587 8 34 --- --- --- --- PASS CCDC105 126402 broad.mit.edu 37 19 15132450 15132450 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:15132450G>A uc002nae.2 + 5 1163 c.1064G>A c.(1063-1065)GGA>GAA p.G355E NM_173482 NP_775753 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 355 microtubule cytoskeleton organization microtubule ovary(1) 1 ATGACGTTAGGACTGATGAGG 0.587 8 34 --- --- --- --- PASS NOTCH3 4854 broad.mit.edu 37 19 15296349 15296349 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:15296349G>A uc002nan.2 - 13 2169 c.2093C>T c.(2092-2094)CCC>CTC p.P698L NOTCH3_uc002nao.1_Missense_Mutation_p.P698L NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 698 Extracellular (Potential).|EGF-like 18. Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) ATGGGCACAGGGATGGCTCGG 0.672 7 12 --- --- --- --- PASS EPHX3 79852 broad.mit.edu 37 19 15338338 15338338 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:15338338G>A uc002nap.2 - 7 1202 c.993C>T c.(991-993)ATC>ATT p.I331I EPHX3_uc002naq.2_Silent_p.I331I NM_024794 NP_079070 Q9H6B9 EPHX3_HUMAN abhydrolase domain containing 9 precursor 331 extracellular region hydrolase activity 0 TGCCTGGCAGGATGTGGGCCT 0.612 9 17 --- --- --- --- PASS CYP4F3 4051 broad.mit.edu 37 19 15769356 15769356 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:15769356G>A uc002nbj.2 + 11 1355 c.1305G>A c.(1303-1305)CCG>CCA p.P435P CYP4F3_uc010xok.1_Silent_p.P435P|CYP4F3_uc010xol.1_Silent_p.P435P|CYP4F3_uc010xom.1_Silent_p.P286P|CYP4F3_uc002nbk.2_Silent_p.P435P|CYP4F3_uc010xon.1_Silent_p.P145P NM_000896 NP_000887 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, 435 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding ovary(3) 3 CCGTGTGGCCGGACCCTGAGG 0.577 18 44 --- --- --- --- PASS CYP4F3 4051 broad.mit.edu 37 19 15770159 15770159 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:15770159G>A uc002nbj.2 + 13 1577 c.1527G>A c.(1525-1527)GAG>GAA p.E509E CYP4F3_uc010xok.1_Silent_p.E509E|CYP4F3_uc010xol.1_Silent_p.E509E|CYP4F3_uc010xom.1_Silent_p.E360E|CYP4F3_uc002nbk.2_Silent_p.E509E|CYP4F3_uc010xon.1_Silent_p.E219E NM_000896 NP_000887 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, 509 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding ovary(3) 3 TGCGCGCAGAGGGCGGACTTT 0.587 4 14 --- --- --- --- PASS OR10H2 26538 broad.mit.edu 37 19 15839433 15839433 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:15839433C>T uc002nbm.2 + 1 600 c.580C>T c.(580-582)CCA>TCA p.P194S NM_013939 NP_039227 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, 194 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) AAATAATGTACCAGCTGTGGC 0.507 22 35 --- --- --- --- PASS OR10H3 26532 broad.mit.edu 37 19 15852774 15852774 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:15852774G>A uc010xoq.1 + 1 572 c.572G>A c.(571-573)GGG>GAG p.G191E NM_013938 NP_039226 O60404 O10H3_HUMAN olfactory receptor, family 10, subfamily H, 191 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTGGCCTGTGGGAGCAAGACA 0.463 32 65 --- --- --- --- PASS OR10H4 126541 broad.mit.edu 37 19 16060372 16060372 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:16060372C>T uc010xov.1 + 1 555 c.555C>T c.(553-555)CTC>CTT p.L185L NM_001004465 NP_001004465 Q8NGA5 O10H4_HUMAN olfactory receptor, family 10, subfamily H, 185 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 TGCTTTCCCTCTTGAAGTTGG 0.463 15 62 --- --- --- --- PASS CIB3 117286 broad.mit.edu 37 19 16279007 16279007 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:16279007G>A uc002nds.2 - 4 287 c.287C>T c.(286-288)TCC>TTC p.S96F CIB3_uc010eae.2_Missense_Mutation_p.S35F|CIB3_uc010eaf.2_Intron|CIB3_uc010eag.2_Missense_Mutation_p.S47F NM_054113 NP_473454 Q96Q77 CIB3_HUMAN DNA-dependent protein kinase catalytic 96 EF-hand 1. calcium ion binding ovary(1) 1 ACTCATCACGGAAAACATGTC 0.542 9 13 --- --- --- --- PASS C19orf44 84167 broad.mit.edu 37 19 16613879 16613879 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:16613879C>T uc002neh.1 + 3 836 c.763C>T c.(763-765)CCA>TCA p.P255S MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.P255S|C19orf44_uc002neg.2_Missense_Mutation_p.P255S|C19orf44_uc010eai.1_RNA NM_032207 NP_115583 Q9H6X5 CS044_HUMAN hypothetical protein LOC84167 255 0 ATATCAGGTCCCATCTCAACT 0.338 13 26 --- --- --- --- PASS TMEM38A 79041 broad.mit.edu 37 19 16797209 16797209 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:16797209C>T uc002nes.2 + 5 756 c.665C>T c.(664-666)TCC>TTC p.S222F NM_024074 NP_076979 Q9H6F2 TM38A_HUMAN transmembrane protein 38A 222 Helical; (Potential). integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity central_nervous_system(2)|ovary(1) 3 TTCATGGTGTCCTGTAAGGTA 0.557 16 23 --- --- --- --- PASS NWD1 284434 broad.mit.edu 37 19 16908679 16908679 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:16908679C>T uc002neu.3 + 16 3863 c.3441C>T c.(3439-3441)TCC>TCT p.S1147S NWD1_uc002net.3_Silent_p.S1012S|NWD1_uc002nev.3_Silent_p.S941S Q149M9 NWD1_HUMAN RecName: Full=NACHT and WD repeat domain-containing protein 1; 1147 WD 8. ATP binding skin(3)|ovary(2)|pancreas(2) 7 TCACGGGGTCCCTTGATGCGC 0.522 74 96 --- --- --- --- PASS F2RL3 9002 broad.mit.edu 37 19 17000411 17000411 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:17000411C>T uc002nfa.2 + 2 312 c.137C>T c.(136-138)CCC>CTC p.P46L NM_003950 NP_003941 Q96RI0 PAR4_HUMAN coagulation factor II (thrombin) receptor-like 3 46 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol extracellular region|integral to plasma membrane thrombin receptor activity 0 CTGCCTGCCCCCCGCGGCTAC 0.672 12 31 --- --- --- --- PASS PLVAP 83483 broad.mit.edu 37 19 17476593 17476593 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:17476593G>A uc002ngk.1 - 3 731 c.681C>T c.(679-681)CCC>CCT p.P227P NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 227 Extracellular (Potential). caveola|integral to membrane|perinuclear region of cytoplasm 0 CCTTGTCCAGGGGCAGGCAGA 0.572 15 27 --- --- --- --- PASS JAK3 3718 broad.mit.edu 37 19 17945968 17945968 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:17945968C>T uc002nhn.3 - 15 2071 c.1971G>A c.(1969-1971)CGG>CGA p.R657R JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Silent_p.R657R NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 657 Protein kinase 1. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.R657Q(4) haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 56 CAGCCCCCTCCCGAGCCAGGA 0.622 2 Mis acute megakaryocytic leukemia| 6 17 --- --- --- --- PASS JAK3 3718 broad.mit.edu 37 19 17945969 17945969 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:17945969C>T uc002nhn.3 - 15 2070 c.1970G>A c.(1969-1971)CGG>CAG p.R657Q JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Missense_Mutation_p.R657Q NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 657 Protein kinase 1. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.R657Q(4) haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 56 AGCCCCCTCCCGAGCCAGGAG 0.617 2 Mis acute megakaryocytic leukemia| 6 16 --- --- --- --- PASS JAK3 3718 broad.mit.edu 37 19 17950469 17950469 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:17950469G>A uc002nhn.3 - 10 1358 c.1258C>T c.(1258-1260)CCC>TCC p.P420S JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.P420S|JAK3_uc010xpx.1_Missense_Mutation_p.P420S NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 420 SH2; atypical. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 56 GGACCAAGGGGGTTCTGCAAA 0.498 2 Mis acute megakaryocytic leukemia| 5 2 --- --- --- --- PASS SLC5A5 6528 broad.mit.edu 37 19 17985516 17985516 + Silent SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:17985516T>C uc002nhr.3 + 4 866 c.519T>C c.(517-519)ATT>ATC p.I173I NM_000453 NP_000444 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium iodide 173 Helical; (Potential). cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity skin(2)|ovary(1)|central_nervous_system(1) 4 CCACCGGAATTATCTGCACCT 0.607 10 14 --- --- --- --- PASS ARRDC2 27106 broad.mit.edu 37 19 18121061 18121061 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:18121061C>T uc002nhv.2 + 6 1049 c.906C>T c.(904-906)ATC>ATT p.I302I ARRDC2_uc002nhu.2_Silent_p.I297I NM_015683 NP_056498 Q8TBH0 ARRD2_HUMAN arrestin domain containing 2 isoform 1 302 pancreas(1) 1 CACTGGTGATCGGCACCATTC 0.652 5 16 --- --- --- --- PASS LSM4 25804 broad.mit.edu 37 19 18426871 18426871 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:18426871G>A uc002niq.2 - 2 179 c.8C>T c.(7-9)CCC>CTC p.P3L NM_012321 NP_036453 Q9Y4Z0 LSM4_HUMAN U6 snRNA-associated Sm-like protein 4 3 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing cytosol|U6 snRNP protein binding|RNA binding 0 CAGTGACAAGGGAAGCTGAAA 0.557 15 27 --- --- --- --- PASS COMP 1311 broad.mit.edu 37 19 18895874 18895874 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:18895874G>A uc002nke.2 - 16 1782 c.1746C>T c.(1744-1746)TTC>TTT p.F582F COMP_uc002nkd.2_Silent_p.F549F|COMP_uc010xqj.1_Silent_p.F529F NM_000095 NP_000086 P49747 COMP_HUMAN cartilage oligomeric matrix protein precursor 582 Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal. anti-apoptosis|apoptosis|cell adhesion|limb development extracellular space|proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding 0 ACGTGCCCTCGAAGTCCACGC 0.587 22 45 --- --- --- --- PASS COMP 1311 broad.mit.edu 37 19 18899070 18899070 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:18899070C>T uc002nke.2 - 9 962 c.926G>A c.(925-927)GGA>GAA p.G309E COMP_uc002nkd.2_Missense_Mutation_p.G276E|COMP_uc010xqj.1_Missense_Mutation_p.G256E NM_000095 NP_000086 P49747 COMP_HUMAN cartilage oligomeric matrix protein precursor 309 TSP type-3 2. anti-apoptosis|apoptosis|cell adhesion|limb development extracellular space|proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding 0 GCAGGCGTCTCCGATGCCATC 0.507 5 12 --- --- --- --- PASS COMP 1311 broad.mit.edu 37 19 18899071 18899071 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:18899071C>T uc002nke.2 - 9 961 c.925G>A c.(925-927)GGA>AGA p.G309R COMP_uc002nkd.2_Missense_Mutation_p.G276R|COMP_uc010xqj.1_Missense_Mutation_p.G256R NM_000095 NP_000086 P49747 COMP_HUMAN cartilage oligomeric matrix protein precursor 309 TSP type-3 2. anti-apoptosis|apoptosis|cell adhesion|limb development extracellular space|proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding 0 CAGGCGTCTCCGATGCCATCG 0.507 5 11 --- --- --- --- PASS NDUFA13 51079 broad.mit.edu 37 19 19627014 19627014 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:19627014C>T uc010xqy.1 + 1 475 c.216C>T c.(214-216)TTC>TTT p.F72F TSSK6_uc002nmq.2_5'Flank|TSSK6_uc002nmr.2_5'Flank|NDUFA13_uc002nms.2_Silent_p.F72F|NDUFA13_uc010xqx.1_Silent_p.F72F NM_015965 NP_057049 Q9P0J0 NDUAD_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha Error:Variant_position_missing_in_Q9P0J0_after_alignment apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding 0 NADH(DB00157) TAAGTCACTTCCGCCCGGGAC 0.607 7 14 --- --- --- --- PASS CILP2 148113 broad.mit.edu 37 19 19654548 19654548 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:19654548G>A uc002nmv.3 + 8 1279 c.1194G>A c.(1192-1194)GAG>GAA p.E398E CILP2_uc002nmw.3_Silent_p.E404E NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 398 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 AGCTCCCTGAGGACTGTGGTC 0.687 26 49 --- --- --- --- PASS ATP13A1 57130 broad.mit.edu 37 19 19762519 19762519 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:19762519G>A uc002nnh.3 - 17 2342 c.2314C>T c.(2314-2316)CTG>TTG p.L772L ATP13A1_uc002nne.2_5'UTR|ATP13A1_uc002nnf.3_Silent_p.L140L|ATP13A1_uc002nng.2_Silent_p.L654L NM_020410 NP_065143 Q9HD20 AT131_HUMAN ATPase type 13A1 772 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(3)|large_intestine(2)|central_nervous_system(1) 6 GGAGGCTGCAGGATCAGCGTG 0.607 5 19 --- --- --- --- PASS ZNF14 7561 broad.mit.edu 37 19 19823542 19823542 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:19823542G>A uc002nnk.1 - 4 702 c.548C>T c.(547-549)CCA>CTA p.P183L NM_021030 NP_066358 P17017 ZNF14_HUMAN zinc finger protein 14 183 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Renal(1328;0.0474) TCTTTGAAATGGCTGGTAATA 0.378 8 30 --- --- --- --- PASS ZNF682 91120 broad.mit.edu 37 19 20117427 20117427 + Missense_Mutation SNP T G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:20117427T>G uc002noq.2 - 4 1007 c.884A>C c.(883-885)AAC>ACC p.N295T ZNF682_uc002noo.2_Missense_Mutation_p.N263T|ZNF682_uc002nop.2_Missense_Mutation_p.N263T|ZNF682_uc010eck.2_Missense_Mutation_p.N219T NM_033196 NP_149973 O95780 ZN682_HUMAN zinc finger protein 682 isoform 1 295 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 TGAGTGCCGGTTAAACGCTCT 0.408 13 37 --- --- --- --- PASS ZNF626 199777 broad.mit.edu 37 19 20807957 20807957 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:20807957G>A uc002npb.1 - 4 876 c.726C>T c.(724-726)TCC>TCT p.S242S ZNF626_uc002npc.1_Silent_p.S166S NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 242 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 TAGTAAGAGTGGAGGAGTGCT 0.393 10 54 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22154265 22154265 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:22154265G>A uc002nqp.2 - 6 3336 c.3187C>T c.(3187-3189)CAT>TAT p.H1063Y 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) TCTCCAGTATGAATTACCTTA 0.363 12 31 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22170068 22170068 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:22170068C>T uc002nqp.2 - 3 325 c.176G>A c.(175-177)GGA>GAA p.G59E ZNF208_uc002nqo.1_Missense_Mutation_p.G59E|ZNF208_uc002nqq.2_RNA NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) GGACTCTTTTCCTTCCTCCAG 0.413 22 33 --- --- --- --- PASS ZNF257 113835 broad.mit.edu 37 19 22271130 22271130 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:22271130G>A uc010ecx.2 + 4 747 c.578G>A c.(577-579)AGA>AAA p.R193K ZNF257_uc010ecy.2_Missense_Mutation_p.R161K NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 193 C2H2-type 1. 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) CGACATAAGAGAATTCATATT 0.363 8 19 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 31025885 31025885 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:31025885G>A uc002nsu.1 + 3 2440 c.2302G>A c.(2302-2304)GTG>ATG p.V768M ZNF536_uc010edd.1_Missense_Mutation_p.V768M NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 768 C2H2-type 8. 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) TCACCTTAAGGTGCACCTGAG 0.602 11 45 --- --- --- --- PASS TSHZ3 57616 broad.mit.edu 37 19 31768608 31768608 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:31768608G>A uc002nsy.3 - 2 2156 c.2091C>T c.(2089-2091)CCC>CCT p.P697P NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 697 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) TGCTGGCTAGGGGCTTCACCA 0.627 4 18 --- --- --- --- PASS TSHZ3 57616 broad.mit.edu 37 19 31768865 31768865 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:31768865C>T uc002nsy.3 - 2 1899 c.1834G>A c.(1834-1836)GAG>AAG p.E612K NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 612 Potential. negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) TTCACCAGCTCCTCCATGGCA 0.572 14 41 --- --- --- --- PASS TSHZ3 57616 broad.mit.edu 37 19 31768866 31768866 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:31768866C>T uc002nsy.3 - 2 1898 c.1833G>A c.(1831-1833)GAG>GAA p.E611E NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 611 Potential. negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) TCACCAGCTCCTCCATGGCAT 0.572 14 41 --- --- --- --- PASS TSHZ3 57616 broad.mit.edu 37 19 31770097 31770097 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:31770097C>T uc002nsy.3 - 2 667 c.602G>A c.(601-603)AGC>AAC p.S201N NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 201 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) ATAGAGCTTGCTGCTCTGCCG 0.622 6 30 --- --- --- --- PASS DPY19L3 147991 broad.mit.edu 37 19 32899171 32899171 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:32899171C>T uc002ntg.2 + 2 188 c.12C>T c.(10-12)ATC>ATT p.I4I DPY19L3_uc002ntf.2_Silent_p.I4I|DPY19L3_uc002nth.1_Silent_p.I4I NM_207325 NP_997208 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 4 integral to membrane ovary(4) 4 Esophageal squamous(110;0.162) TGATGTCCATCCGGCAAAGAA 0.428 20 42 --- --- --- --- PASS DPY19L3 147991 broad.mit.edu 37 19 32949041 32949041 + Silent SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:32949041T>C uc002ntg.2 + 11 1301 c.1125T>C c.(1123-1125)TTT>TTC p.F375F DPY19L3_uc002nth.1_Silent_p.F375F|DPY19L3_uc002nti.1_RNA NM_207325 NP_997208 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 375 integral to membrane ovary(4) 4 Esophageal squamous(110;0.162) AACACATATTTAAATTTCTGA 0.348 7 17 --- --- --- --- PASS KIAA0355 9710 broad.mit.edu 37 19 34818434 34818434 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:34818434G>A uc002nvd.3 + 4 1673 c.814G>A c.(814-816)GAA>AAA p.E272K NM_014686 NP_055501 O15063 K0355_HUMAN hypothetical protein LOC9710 272 ovary(1) 1 Esophageal squamous(110;0.162) CCAGCTAAAAGAACTGAACAT 0.408 10 49 --- --- --- --- PASS GPI 2821 broad.mit.edu 37 19 34890524 34890524 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:34890524G>A uc002nvg.1 + 16 1565 c.1462G>A c.(1462-1464)GGA>AGA p.G488R GPI_uc002nvf.2_Missense_Mutation_p.G527R|GPI_uc010xrv.1_Missense_Mutation_p.G499R|GPI_uc010xrw.1_Missense_Mutation_p.G460R|GPI_uc010edl.1_Intron|GPI_uc002nvi.1_Missense_Mutation_p.G151R NM_000175 NP_000166 P06744 G6PI_HUMAN glucose phosphate isomerase 488 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity ovary(1)|kidney(1) 2 Esophageal squamous(110;0.162) ATTCATGCTTGGAGCCTTGGT 0.527 15 60 --- --- --- --- PASS ZNF599 148103 broad.mit.edu 37 19 35251045 35251045 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:35251045G>A uc010edn.1 - 4 1049 c.661C>T c.(661-663)CAT>TAT p.H221Y ZNF599_uc010edm.1_Missense_Mutation_p.H184Y NM_001007248 NP_001007249 Q96NL3 ZN599_HUMAN zinc finger protein 599 221 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) ACTCCAGCATGAATCTGTTGA 0.473 53 92 --- --- --- --- PASS ZNF792 126375 broad.mit.edu 37 19 35449187 35449187 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:35449187G>A uc002nxh.1 - 4 1959 c.1572C>T c.(1570-1572)CAC>CAT p.H524H NM_175872 NP_787068 Q3KQV3 ZN792_HUMAN zinc finger protein 792 524 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GAAGTCTCCGGTGGTTATTGA 0.522 5 23 --- --- --- --- PASS MAG 4099 broad.mit.edu 37 19 35804284 35804284 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:35804284G>A uc002nyy.1 + 11 1957 c.1808G>A c.(1807-1809)GGG>GAG p.G603E MAG_uc002nyx.1_3'UTR|MAG_uc010eds.1_Missense_Mutation_p.G578E|MAG_uc002nyz.1_Missense_Mutation_p.G603E NM_002361 NP_002352 P20916 MAG_HUMAN myelin associated glycoprotein isoform a 603 Cytoplasmic (Potential). blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding breast(3)|lung(2)|central_nervous_system(1)|skin(1) 7 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) TCGGACCTGGGGAAACGGCCC 0.632 17 27 --- --- --- --- PASS FFAR3 2865 broad.mit.edu 37 19 35850282 35850282 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:35850282G>A uc002nzd.2 + 2 565 c.490G>A c.(490-492)GGC>AGC p.G164S FFAR3_uc010xsu.1_Intron NM_005304 NP_005295 O14843 FFAR3_HUMAN free fatty acid receptor 3 164 Extracellular (Potential). integral to plasma membrane G-protein coupled receptor activity|lipid binding 0 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) CCACAGCCAGGGCACCAATGG 0.617 9 29 --- --- --- --- PASS FFAR2 2867 broad.mit.edu 37 19 35941492 35941492 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:35941492G>A uc002nzg.2 + 2 956 c.876G>A c.(874-876)CGG>CGA p.R292R FFAR2_uc010eea.2_Silent_p.R292R NM_005306 NP_005297 O15552 FFAR2_HUMAN free fatty acid receptor 2 292 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity|lipid binding central_nervous_system(1) 1 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) AGGTGCTGCGGAATCAGGGCT 0.577 15 45 --- --- --- --- PASS ATP4A 495 broad.mit.edu 37 19 36051371 36051371 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:36051371G>A uc002oal.1 - 6 710 c.681C>T c.(679-681)TCC>TCT p.S227S ATP4A_uc010eee.1_5'Flank NM_000704 NP_000695 P20648 ATP4A_HUMAN hydrogen/potassium-exchanging ATPase 4A 227 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding ovary(1) 1 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) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) CTGTCAGCGAGGAGTTGTCCA 0.647 15 21 --- --- --- --- PASS ATP4A 495 broad.mit.edu 37 19 36051372 36051372 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:36051372G>A uc002oal.1 - 6 709 c.680C>T c.(679-681)TCC>TTC p.S227F ATP4A_uc010eee.1_5'Flank NM_000704 NP_000695 P20648 ATP4A_HUMAN hydrogen/potassium-exchanging ATPase 4A 227 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding ovary(1) 1 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) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) TGTCAGCGAGGAGTTGTCCAC 0.647 15 21 --- --- --- --- PASS ARHGAP33 115703 broad.mit.edu 37 19 36278103 36278103 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:36278103C>T uc002obs.1 + 21 2238 c.2153C>T c.(2152-2154)CCC>CTC p.P718L ARHGAP33_uc002obt.1_Missense_Mutation_p.P743L|ARHGAP33_uc010eel.2_Missense_Mutation_p.P467L|ARHGAP33_uc002obv.1_Missense_Mutation_p.P467L NM_052948 NP_443180 O14559 RHG33_HUMAN sorting nexin 26 766 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding skin(2)|ovary(1)|pancreas(1) 4 CCACCCCCTCCCCTGTCTCTC 0.667 14 16 --- --- --- --- PASS PRODH2 58510 broad.mit.edu 37 19 36302948 36302948 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:36302948C>T uc002obx.1 - 5 759 c.741G>A c.(739-741)AAG>AAA p.K247K NM_021232 NP_067055 Q9UF12 PROD2_HUMAN kidney and liver proline oxidase 1 247 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity ovary(2) 2 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AGGCTAGCTCCTTCTGAAATG 0.642 4 16 --- --- --- --- PASS KIRREL2 84063 broad.mit.edu 37 19 36351482 36351482 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:36351482G>A uc002ocb.3 + 7 1053 c.841G>A c.(841-843)GAC>AAC p.D281N KIRREL2_uc002obz.3_Missense_Mutation_p.D281N|KIRREL2_uc002oca.3_Missense_Mutation_p.D231N|KIRREL2_uc002occ.3_Missense_Mutation_p.D228N|KIRREL2_uc002ocd.3_Missense_Mutation_p.D278N NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 281 Ig-like C2-type 3.|Extracellular (Potential). cell adhesion integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGTCGTGGCAGACGCCTCGTT 0.657 9 29 --- --- --- --- PASS ZFP82 284406 broad.mit.edu 37 19 36884093 36884093 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:36884093G>A uc002ody.1 - 5 1384 c.1149C>T c.(1147-1149)CTC>CTT p.L383L NM_133466 NP_597723 Q8N141 ZFP82_HUMAN zinc finger protein 82 homolog 383 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 TTCTGTGATGGAGAATAAGAT 0.383 18 56 --- --- --- --- PASS ZNF567 163081 broad.mit.edu 37 19 37210388 37210388 + Silent SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:37210388A>T uc010xtl.1 + 6 984 c.762A>T c.(760-762)ACA>ACT p.T254T ZNF567_uc002oeo.1_Silent_p.T254T|ZNF567_uc010xtk.1_Silent_p.T254T|ZNF567_uc002oep.3_Silent_p.T223T|ZNF567_uc002oeq.1_Silent_p.T223T NM_152603 NP_689816 Q8N184 ZN567_HUMAN zinc finger protein 567 254 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AAAAACATACATGCAATGAAT 0.353 12 16 --- --- --- --- PASS ZNF829 374899 broad.mit.edu 37 19 37399311 37399311 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:37399311C>T uc002ofa.1 - 4 509 c.147G>A c.(145-147)TGG>TGA p.W49* ZNF345_uc002oez.2_Intron|ZNF829_uc002ofb.2_Nonsense_Mutation_p.W49* NM_001037232 NP_001032309 Q3KNS6 ZN829_HUMAN zinc finger protein 829 49 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCAGGCATTCCCATTCCTCTT 0.413 17 64 --- --- --- --- PASS ZNF781 163115 broad.mit.edu 37 19 38160681 38160681 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:38160681C>T uc002ogy.2 - 4 1111 c.369G>A c.(367-369)TGG>TGA p.W123* ZNF781_uc002ogz.2_Nonsense_Mutation_p.W118* NM_152605 NP_689818 Q8N8C0 ZN781_HUMAN zinc finger protein 781 123 C2H2-type 4; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CAAAGGCCTTCCAACATTGCT 0.378 19 30 --- --- --- --- PASS FAM98C 147965 broad.mit.edu 37 19 38896178 38896178 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:38896178C>T uc002oin.1 + 6 672 c.653C>T c.(652-654)TCC>TTC p.S218F FAM98C_uc002oio.1_Missense_Mutation_p.S192F|FAM98C_uc010xtz.1_Intron NM_174905 NP_777565 Q17RN3 FA98C_HUMAN hypothetical protein LOC147965 218 skin(1) 1 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GAGTCTCTGTCCCAAAGCCTC 0.577 8 51 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 38937382 38937382 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:38937382C>T uc002oit.2 + 9 904 c.774C>T c.(772-774)CTC>CTT p.L258L RYR1_uc002oiu.2_Silent_p.L258L NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 258 MIR 3.|Cytoplasmic. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCCGCTCCCTCTGGAGGCTGG 0.602 5 15 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 38990384 38990384 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:38990384C>T uc002oit.2 + 44 7267 c.7137C>T c.(7135-7137)GCC>GCT p.A2379A RYR1_uc002oiu.2_Silent_p.A2379A|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2379 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGCTGGCTGCCATCGAAGAGG 0.697 3 4 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 39076791 39076791 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:39076791G>A uc002oit.2 + 104 15059 c.14929G>A c.(14929-14931)GAG>AAG p.E4977K RYR1_uc002oiu.2_Missense_Mutation_p.E4972K NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 4977 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCATGGCTTCGAGACTCACAC 0.557 7 17 --- --- --- --- PASS ACTN4 81 broad.mit.edu 37 19 39196706 39196706 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:39196706C>T uc002oja.1 + 5 566 c.507C>T c.(505-507)CTC>CTT p.L169L ACTN4_uc010egc.1_Silent_p.L169L NM_004924 NP_004915 O43707 ACTN4_HUMAN actinin, alpha 4 169 Actin-binding.|CH 2. platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity 0 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) AGGAAGGGCTCCTTCTCTGGT 0.512 4 23 --- --- --- --- PASS ACTN4 81 broad.mit.edu 37 19 39196707 39196707 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:39196707C>T uc002oja.1 + 5 567 c.508C>T c.(508-510)CTT>TTT p.L170F ACTN4_uc010egc.1_Missense_Mutation_p.L170F NM_004924 NP_004915 O43707 ACTN4_HUMAN actinin, alpha 4 170 Actin-binding.|CH 2. platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity 0 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GGAAGGGCTCCTTCTCTGGTG 0.507 4 24 --- --- --- --- PASS LGALS4 3960 broad.mit.edu 37 19 39292471 39292471 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:39292471G>A uc002ojg.2 - 10 1119 c.905C>T c.(904-906)TCG>TTG p.S302L NM_006149 NP_006140 P56470 LEG4_HUMAN galectin-4 302 Galectin 2. cell adhesion cytosol|plasma membrane sugar binding ovary(1)|skin(1) 2 all_cancers(60;1.02e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) CTGGAAGGCCGAGAGGCGATG 0.532 19 54 --- --- --- --- PASS LGALS4 3960 broad.mit.edu 37 19 39292733 39292733 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:39292733C>T uc002ojg.2 - 9 938 c.724G>A c.(724-726)GGC>AGC p.G242S NM_006149 NP_006140 P56470 LEG4_HUMAN galectin-4 242 Galectin 2. cell adhesion cytosol|plasma membrane sugar binding ovary(1)|skin(1) 2 all_cancers(60;1.02e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) GTACCGTTGCCCATGCGGGGA 0.557 8 27 --- --- --- --- PASS HNRNPL 3191 broad.mit.edu 37 19 39330769 39330769 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:39330769G>A uc010xul.1 - 8 1211 c.1200C>T c.(1198-1200)TTC>TTT p.F400F HNRNPL_uc010ege.1_Silent_p.F56F|HNRNPL_uc002ojj.1_Silent_p.F56F|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojk.2_Silent_p.F56F|HNRNPL_uc002ojl.2_Silent_p.F56F|HNRNPL_uc010xum.1_Silent_p.F267F|HNRNPL_uc002ojp.1_Silent_p.F56F|HNRNPL_uc010xun.1_3'UTR NM_001533 NP_001524 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 400 RRM 3. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding 0 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) AGAAGACATTGAAGACTCGGT 0.577 11 34 --- --- --- --- PASS HNRNPL 3191 broad.mit.edu 37 19 39330771 39330771 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:39330771A>G uc010xul.1 - 8 1209 c.1198T>C c.(1198-1200)TTC>CTC p.F400L HNRNPL_uc010ege.1_Missense_Mutation_p.F56L|HNRNPL_uc002ojj.1_Missense_Mutation_p.F56L|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojk.2_Missense_Mutation_p.F56L|HNRNPL_uc002ojl.2_Missense_Mutation_p.F56L|HNRNPL_uc010xum.1_Missense_Mutation_p.F267L|HNRNPL_uc002ojp.1_Missense_Mutation_p.F56L|HNRNPL_uc010xun.1_3'UTR NM_001533 NP_001524 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 400 RRM 3. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding 0 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) AAGACATTGAAGACTCGGTCA 0.582 11 30 --- --- --- --- PASS FCGBP 8857 broad.mit.edu 37 19 40362803 40362803 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:40362803G>A uc002omp.3 - 32 15275 c.15267C>T c.(15265-15267)TTC>TTT p.F5089F NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 5089 extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TGCGGCACAGGAAGGCTTTGT 0.657 15 68 --- --- --- --- PASS FCGBP 8857 broad.mit.edu 37 19 40433636 40433636 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:40433636C>T uc002omp.3 - 2 641 c.633G>A c.(631-633)GGG>GGA p.G211G NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 211 IgGFc-binding. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TGACCTTTGACCCCGAGAGAT 0.547 13 24 --- --- --- --- PASS ZNF780A 284323 broad.mit.edu 37 19 40581066 40581066 + Missense_Mutation SNP C T T rs144919039 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:40581066C>T uc002omy.2 - 6 1508 c.1283G>A c.(1282-1284)CGT>CAT p.R428H ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.R428H|ZNF780A_uc010xvh.1_Missense_Mutation_p.R429H NM_001010880 NP_001010880 O75290 Z780A_HUMAN zinc finger protein 780A isoform b 428 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GTGTGCACCACGATTAAAGCC 0.383 32 128 --- --- --- --- PASS C19orf47 126526 broad.mit.edu 37 19 40828027 40828027 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:40828027G>A uc002oni.3 - 9 1032 c.1031C>T c.(1030-1032)CCG>CTG p.P344L C19orf47_uc002ong.2_Missense_Mutation_p.P203L|C19orf47_uc002onh.2_Missense_Mutation_p.P277L NM_178830 NP_849152 Q8N9M1 CS047_HUMAN hypothetical protein LOC126526 344 ovary(1)|skin(1) 2 Lung(22;0.000636) CAAGGACTCCGGCTTCCTCTC 0.617 5 26 --- --- --- --- PASS C19orf47 126526 broad.mit.edu 37 19 40828028 40828028 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:40828028G>A uc002oni.3 - 9 1031 c.1030C>T c.(1030-1032)CCG>TCG p.P344S C19orf47_uc002ong.2_Missense_Mutation_p.P203S|C19orf47_uc002onh.2_Missense_Mutation_p.P277S NM_178830 NP_849152 Q8N9M1 CS047_HUMAN hypothetical protein LOC126526 344 ovary(1)|skin(1) 2 Lung(22;0.000636) AAGGACTCCGGCTTCCTCTCA 0.612 5 26 --- --- --- --- PASS CYP2B6 1555 broad.mit.edu 37 19 41510013 41510013 + Missense_Mutation SNP G C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:41510013G>C uc002opr.1 + 2 286 c.279G>C c.(277-279)GAG>GAC p.E93D CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.E53D NM_000767 NP_000758 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, 93 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) ACAAGGCTGAGGCCTTCTCTG 0.617 9 47 --- --- --- --- PASS CYP2B6 1555 broad.mit.edu 37 19 41515196 41515196 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:41515196G>A uc002opr.1 + 5 725 c.718G>A c.(718-720)GAA>AAA p.E240K CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron NM_000767 NP_000758 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, 240 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) AAACCTGCAGGAAATCAATGC 0.517 16 73 --- --- --- --- PASS CEACAM7 1087 broad.mit.edu 37 19 42187819 42187819 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:42187819G>A uc002ori.1 - 3 605 c.603C>T c.(601-603)CTC>CTT p.L201L CEACAM7_uc010ehx.2_Silent_p.L201L|CEACAM7_uc010ehy.1_Intron NM_006890 NP_008821 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion 201 Ig-like C2-type. anchored to membrane|integral to membrane|plasma membrane ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) TGAGTAGAACGAGGGTCCTGT 0.537 31 85 --- --- --- --- PASS CEACAM7 1087 broad.mit.edu 37 19 42191133 42191133 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:42191133C>T uc002ori.1 - 2 86 c.84G>A c.(82-84)TGG>TGA p.W28* CEACAM7_uc010ehx.2_Nonsense_Mutation_p.W28*|CEACAM7_uc010ehy.1_Nonsense_Mutation_p.W28* NM_006890 NP_008821 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion 28 anchored to membrane|integral to membrane|plasma membrane ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) TTGGCAGGTTCCAGAAGGTTA 0.507 39 38 --- --- --- --- PASS CEACAM3 1084 broad.mit.edu 37 19 42301575 42301575 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:42301575C>T uc002orn.1 + 2 195 c.119C>T c.(118-120)TCC>TTC p.S40F CEACAM3_uc010eia.1_Missense_Mutation_p.S40F|CEACAM3_uc002oro.1_RNA NM_001815 NP_001806 P40198 CEAM3_HUMAN carcinoembryonic antigen-related cell adhesion 40 Ig-like V-type.|Extracellular (Potential). integral to membrane skin(1) 1 ACTATTGAATCCATGCCGCTC 0.517 40 60 --- --- --- --- PASS DMRTC2 63946 broad.mit.edu 37 19 42355712 42355712 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:42355712C>T uc002ors.2 + 9 1135 c.1052C>T c.(1051-1053)CCC>CTC p.P351L DMRTC2_uc002orr.1_3'UTR|DMRTC2_uc010xwe.1_Missense_Mutation_p.P402L NM_001040283 NP_001035373 Q8IXT2 DMRTD_HUMAN DMRT-like family C2 351 Pro-rich. cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity 0 AGCCCAGCCCCCTCTGTTGCT 0.597 5 31 --- --- --- --- PASS GRIK5 2901 broad.mit.edu 37 19 42563519 42563519 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:42563519G>A uc002osj.1 - 5 704 c.669C>T c.(667-669)TCC>TCT p.S223S GRIK5_uc010eib.1_Silent_p.S142S NM_002088 NP_002079 Q16478 GRIK5_HUMAN glutamate receptor KA2 precursor 223 Extracellular (Potential). cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity 0 Prostate(69;0.059) L-Glutamic Acid(DB00142) GGATGAGGTGGGAGATGGAGG 0.587 16 36 --- --- --- --- PASS ZNF526 116115 broad.mit.edu 37 19 42729860 42729860 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:42729860C>T uc002osz.1 + 3 1461 c.1305C>T c.(1303-1305)CCC>CCT p.P435P NM_133444 NP_597701 Q8TF50 ZN526_HUMAN zinc finger protein 526 435 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0704) CACCACCACCCCCTGCCCCAC 0.706 3 5 --- --- --- --- PASS ZNF526 116115 broad.mit.edu 37 19 42729861 42729861 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:42729861C>T uc002osz.1 + 3 1462 c.1306C>T c.(1306-1308)CCT>TCT p.P436S NM_133444 NP_597701 Q8TF50 ZN526_HUMAN zinc finger protein 526 436 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0704) ACCACCACCCCCTGCCCCACC 0.706 3 5 --- --- --- --- PASS TMEM145 284339 broad.mit.edu 37 19 42824508 42824508 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:42824508C>T uc002otk.1 + 13 1165 c.1113C>T c.(1111-1113)TTC>TTT p.F371F NM_173633 NP_775904 Q8NBT3 TM145_HUMAN transmembrane protein 145 371 integral to membrane 0 Prostate(69;0.00682) TTGCCAATTTCGGCATCCCCA 0.562 10 42 --- --- --- --- PASS IRGC 56269 broad.mit.edu 37 19 44222962 44222962 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:44222962G>A uc002oxh.2 + 2 399 c.252G>A c.(250-252)GCG>GCA p.A84A NM_019612 NP_062558 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 84 membrane GTP binding|hydrolase activity, acting on acid anhydrides ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(69;0.0435) ACCCTGGCGCGGCTCTCACGG 0.682 4 20 --- --- --- --- PASS KCNN4 3783 broad.mit.edu 37 19 44271811 44271811 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:44271811G>A uc002oxl.2 - 8 1564 c.1168C>T c.(1168-1170)CGG>TGG p.R390W KCNN4_uc010eiz.2_Missense_Mutation_p.R314W NM_002250 NP_002241 O15554 KCNN4_HUMAN intermediate conductance calcium-activated 390 defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding ovary(2) 2 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) TCCAGGGCCCGGTGTGAGCTG 0.622 7 36 --- --- --- --- PASS ZNF404 342908 broad.mit.edu 37 19 44378083 44378083 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:44378083C>T uc002oxs.3 - 2 283 c.274G>A c.(274-276)GAA>AAA p.E92K NM_001033719 NP_001028891 Q494X3 ZN404_HUMAN zinc finger protein 404 95 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) CTCCCAAATTCAATTGTGTAC 0.338 44 66 --- --- --- --- PASS ZNF221 7638 broad.mit.edu 37 19 44470564 44470564 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:44470564C>T uc002oxx.2 + 6 1238 c.910C>T c.(910-912)CAT>TAT p.H304Y ZNF221_uc010ejb.1_Missense_Mutation_p.H304Y|ZNF221_uc010xws.1_Missense_Mutation_p.H304Y NM_013359 NP_037491 Q9UK13 ZN221_HUMAN zinc finger protein 221 304 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Prostate(69;0.0352) TCAGAGAATCCATACTGGGGA 0.403 22 95 --- --- --- --- PASS ZNF221 7638 broad.mit.edu 37 19 44471222 44471222 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:44471222C>T uc002oxx.2 + 6 1896 c.1568C>T c.(1567-1569)TCC>TTC p.S523F ZNF221_uc010ejb.1_Missense_Mutation_p.S523F|ZNF221_uc010xws.1_Missense_Mutation_p.S523F NM_013359 NP_037491 Q9UK13 ZN221_HUMAN zinc finger protein 221 523 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Prostate(69;0.0352) CAACTTCATTCCCATCAGACA 0.428 9 50 --- --- --- --- PASS PVR 5817 broad.mit.edu 37 19 45153245 45153245 + Missense_Mutation SNP G C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:45153245G>C uc002ozm.2 + 3 891 c.592G>C c.(592-594)GGC>CGC p.G198R PVR_uc010ejs.2_Missense_Mutation_p.G198R|PVR_uc010xxb.1_Missense_Mutation_p.G198R|PVR_uc010xxc.1_Missense_Mutation_p.G198R|PVR_uc002ozn.2_Missense_Mutation_p.G143R NM_006505 NP_006496 P15151 PVR_HUMAN poliovirus receptor isoform alpha 198 Extracellular (Potential).|Ig-like C2-type 1. adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus cell adhesion molecule binding|receptor activity 0 Lung NSC(12;0.00608)|all_lung(12;0.0148) Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112) Epithelial(262;0.000601) GTTCCTGTCTGGCACAGTCAC 0.622 10 14 --- --- --- --- PASS EXOC3L2 90332 broad.mit.edu 37 19 45716584 45716584 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:45716584G>A uc002pay.1 - 10 1014 c.973C>T c.(973-975)CGT>TGT p.R325C NM_138568 NP_612635 Q2M3D2 EX3L2_HUMAN exocyst complex component 3-like 2 325 ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00883) CGCAGGCCACGGATGTCGAGG 0.672 8 9 --- --- --- --- PASS VASP 7408 broad.mit.edu 37 19 46021010 46021010 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:46021010C>T uc002pcg.2 + 2 437 c.95C>T c.(94-96)GCC>GTC p.A32V VASP_uc010eki.2_Missense_Mutation_p.P16S|VASP_uc002pci.2_Missense_Mutation_p.A19V NM_003370 NP_003361 P50552 VASP_HUMAN vasodilator-stimulated phosphoprotein 32 WH1. axon guidance|cell junction assembly|T cell receptor signaling pathway actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane actin binding|profilin binding|SH3 domain binding 0 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154) GGTCCCCAGGCCTTCAGCCGC 0.647 14 23 --- --- --- --- PASS VASP 7408 broad.mit.edu 37 19 46021011 46021011 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:46021011C>T uc002pcg.2 + 2 438 c.96C>T c.(94-96)GCC>GCT p.A32A VASP_uc010eki.2_Missense_Mutation_p.P16L|VASP_uc002pci.2_Silent_p.A19A NM_003370 NP_003361 P50552 VASP_HUMAN vasodilator-stimulated phosphoprotein 32 WH1. axon guidance|cell junction assembly|T cell receptor signaling pathway actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane actin binding|profilin binding|SH3 domain binding 0 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154) GTCCCCAGGCCTTCAGCCGCG 0.647 13 22 --- --- --- --- PASS RSPH6A 81492 broad.mit.edu 37 19 46307946 46307946 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:46307946G>A uc002pdm.2 - 3 1360 c.1217C>T c.(1216-1218)TCC>TTC p.S406F RSPH6A_uc002pdl.2_Missense_Mutation_p.S142F NM_030785 NP_110412 Q9H0K4 RSH6A_HUMAN radial spokehead-like 1 406 intracellular ovary(1)|central_nervous_system(1) 2 CTTCCATACGGACTTAGGGAC 0.448 4 14 --- --- --- --- PASS SYMPK 8189 broad.mit.edu 37 19 46355740 46355740 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:46355740A>T uc002pdn.2 - 4 470 c.225T>A c.(223-225)GAT>GAA p.D75E SYMPK_uc002pdo.1_Missense_Mutation_p.D75E|SYMPK_uc002pdp.1_Missense_Mutation_p.D75E|SYMPK_uc002pdq.1_Missense_Mutation_p.D75E NM_004819 NP_004810 Q92797 SYMPK_HUMAN symplekin 75 Interaction with HSF1. cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding ovary(1) 1 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) AGTCACTCACATCCAGGAAGT 0.507 24 31 --- --- --- --- PASS IRF2BP1 26145 broad.mit.edu 37 19 46388122 46388122 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:46388122G>A uc002pds.1 - 1 1255 c.911C>T c.(910-912)CCG>CTG p.P304L NM_015649 NP_056464 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) TGCCTTGCCCGGCTCCCGCAG 0.617 5 14 --- --- --- --- PASS NOVA2 4858 broad.mit.edu 37 19 46443310 46443310 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:46443310C>T uc002pdv.2 - 4 1338 c.1290G>A c.(1288-1290)GTG>GTA p.V430V NM_002516 NP_002507 Q9UNW9 NOVA2_HUMAN neuro-oncological ventral antigen 2 430 KH 3. nucleus RNA binding 0 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) CCTGGTACTCCACCAACGTCT 0.662 35 53 --- --- --- --- PASS IGFL2 147920 broad.mit.edu 37 19 46664061 46664061 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:46664061C>A uc010xxv.1 + 3 300 c.264C>A c.(262-264)AAC>AAA p.N88K IGFL2_uc002peb.2_Missense_Mutation_p.N99K NM_001135113 NP_001128585 Q6UWQ7 IGFL2_HUMAN IGF-like family member 2 isoform b 88 extracellular region protein binding 0 Ovarian(192;0.0908)|all_neural(266;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247) GCCTCACAAACGATTTTGTTG 0.557 5 143 --- --- --- --- PASS CCDC8 83987 broad.mit.edu 37 19 46914555 46914555 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:46914555G>A uc002pep.2 - 1 2365 c.1513C>T c.(1513-1515)CTG>TTG p.L505L NM_032040 NP_114429 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 505 plasma membrane ovary(3) 3 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) CTCTTGGGCAGGGTTGGCAAC 0.622 8 34 --- --- --- --- PASS CCDC8 83987 broad.mit.edu 37 19 46915085 46915085 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:46915085C>T uc002pep.2 - 1 1835 c.983G>A c.(982-984)GGG>GAG p.G328E NM_032040 NP_114429 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 328 plasma membrane ovary(3) 3 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) AGCCTCTGCCCCCTGGTCAGC 0.622 39 37 --- --- --- --- PASS GRLF1 2909 broad.mit.edu 37 19 47424480 47424480 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:47424480C>T uc010ekv.2 + 1 2548 c.2548C>T c.(2548-2550)CGG>TGG p.R850W NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 850 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) CAGAAAGAGCCGGTTGGTTCA 0.418 12 59 --- --- --- --- PASS MEIS3 56917 broad.mit.edu 37 19 47912413 47912413 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:47912413C>T uc002pgu.2 - 8 1248 c.801G>A c.(799-801)GGG>GGA p.G267G MEIS3_uc010xyp.1_5'Flank|MEIS3_uc002pgo.2_Silent_p.G66G|MEIS3_uc002pgp.2_Silent_p.G99G|MEIS3_uc002pgq.2_Silent_p.G348G|MEIS3_uc002pgr.2_Silent_p.G135G|MEIS3_uc002pgt.2_Silent_p.G250G|MEIS3_uc002pgv.2_Silent_p.G250G|MEIS3_uc002pgs.2_Silent_p.G267G|MEIS3_uc010eld.2_Silent_p.G267G NM_001009813 NP_001009813 Q99687 MEIS3_HUMAN Meis1, myeloid ecotropic viral integration site 267 Homeobox; TALE-type. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223) TGGGGAAGATCCCCCTCTTCT 0.612 17 25 --- --- --- --- PASS NAPA 8775 broad.mit.edu 37 19 47991584 47991584 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:47991584G>A uc002pha.1 - 11 1149 c.849C>T c.(847-849)ATC>ATT p.I283I uc002pgz.1_Intron|NAPA_uc002phb.1_Silent_p.I244I|NAPA_uc002phc.1_Silent_p.I170I|NAPA_uc002phd.1_Silent_p.I283I NM_003827 NP_003818 P54920 SNAA_HUMAN N-ethylmaleimide-sensitive factor attachment 283 cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport cytosol 0 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049) TGGTCTTCTTGATGCGCAGCA 0.637 12 22 --- --- --- --- PASS PLA2G4C 8605 broad.mit.edu 37 19 48601396 48601396 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:48601396C>T uc002phx.2 - 6 966 c.568G>A c.(568-570)GAG>AAG p.E190K PLA2G4C_uc002phw.2_Missense_Mutation_p.E125K|PLA2G4C_uc010elr.2_Missense_Mutation_p.E190K|PLA2G4C_uc010xzd.1_Missense_Mutation_p.E200K|PLA2G4C_uc002phy.3_Missense_Mutation_p.G190S NM_003706 NP_003697 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC isoform 1 precursor 190 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding ovary(1)|skin(1) 2 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) GTTTGCTTACCTGGTGCTCTT 0.527 17 41 --- --- --- --- PASS PLA2G4C 8605 broad.mit.edu 37 19 48603039 48603039 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:48603039C>T uc002phx.2 - 5 734 c.336G>A c.(334-336)CAG>CAA p.Q112Q PLA2G4C_uc002phw.2_Silent_p.Q47Q|PLA2G4C_uc010elr.2_Silent_p.Q112Q|PLA2G4C_uc010xzd.1_Silent_p.Q122Q|PLA2G4C_uc002phy.3_Silent_p.Q112Q NM_003706 NP_003697 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC isoform 1 precursor 112 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding ovary(1)|skin(1) 2 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) AGTCCCACTCCTGTCGGGTAA 0.498 52 94 --- --- --- --- PASS LIG1 3978 broad.mit.edu 37 19 48636269 48636269 + Missense_Mutation SNP G C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:48636269G>C uc002pia.1 - 18 1815 c.1695C>G c.(1693-1695)TGC>TGG p.C565W LIG1_uc010xze.1_Missense_Mutation_p.C258W|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.C497W|LIG1_uc010xzg.1_Missense_Mutation_p.C534W NM_000234 NP_000225 P18858 DNLI1_HUMAN DNA ligase I 565 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding large_intestine(2)|lung(1) 3 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) ATTTGTATTCGCAGGTGAAAG 0.567 NER 71 88 --- --- --- --- PASS LIG1 3978 broad.mit.edu 37 19 48646813 48646813 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:48646813C>T uc002pia.1 - 11 1021 c.901G>A c.(901-903)GAG>AAG p.E301K LIG1_uc010xze.1_5'UTR|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.E233K|LIG1_uc010xzg.1_Missense_Mutation_p.E270K|LIG1_uc010xzh.1_RNA NM_000234 NP_000225 P18858 DNLI1_HUMAN DNA ligase I 301 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding large_intestine(2)|lung(1) 3 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) GCAGACACCTCCTCGATCTTC 0.597 NER 23 34 --- --- --- --- PASS CYTH2 9266 broad.mit.edu 37 19 48975678 48975678 + Missense_Mutation SNP A C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:48975678A>C uc002pjj.3 + 4 631 c.331A>C c.(331-333)ATC>CTC p.I111L uc002pjg.2_5'Flank|CYTH2_uc010xzr.1_Missense_Mutation_p.I111L|CYTH2_uc002pji.2_RNA NM_017457 NP_059431 Q99418 CYH2_HUMAN cytohesin 2 isoform 1 111 SEC7. actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|membrane fraction|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 CAAGACAGCCATCGGGGACTA 0.637 7 13 --- --- --- --- PASS NTN5 126147 broad.mit.edu 37 19 49167065 49167065 + Missense_Mutation SNP G A A rs149409502 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:49167065G>A uc002pkb.2 - 5 1073 c.977C>T c.(976-978)CCA>CTA p.P326L SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|NTN5_uc002pkc.2_Missense_Mutation_p.P326L NM_145807 NP_665806 Q8WTR8 NET5_HUMAN netrin 5 precursor 326 extracellular region large_intestine(1)|pancreas(1) 2 TGTTGCCTCTGGAATTCCTGT 0.547 5 19 --- --- --- --- PASS TULP2 7288 broad.mit.edu 37 19 49391367 49391367 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:49391367G>A uc002pkz.2 - 8 939 c.788C>T c.(787-789)TCC>TTC p.S263F NM_003323 NP_003314 O00295 TULP2_HUMAN tubby like protein 2 263 visual perception cytoplasm|extracellular region ovary(1)|kidney(1)|skin(1) 3 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) AGGGCAGGGGGAGCGGATTGC 0.637 9 24 --- --- --- --- PASS TULP2 7288 broad.mit.edu 37 19 49391432 49391432 + Silent SNP G A A rs142980256 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:49391432G>A uc002pkz.2 - 8 874 c.723C>T c.(721-723)GCC>GCT p.A241A NM_003323 NP_003314 O00295 TULP2_HUMAN tubby like protein 2 241 visual perception cytoplasm|extracellular region ovary(1)|kidney(1)|skin(1) 3 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) CGCCTTTCAGGGCCTTGGACA 0.592 10 29 --- --- --- --- PASS FTL 2512 broad.mit.edu 37 19 49469080 49469080 + Silent SNP C T T rs143106340 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:49469080C>T uc002plo.2 + 2 355 c.156C>T c.(154-156)TTC>TTT p.F52F FTL_uc002pln.1_Silent_p.F52F NM_000146 NP_000137 P02792 FRIL_HUMAN ferritin, light polypeptide 52 Ferritin-like diiron. cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|identical protein binding|oxidoreductase activity 0 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267) Iron Dextran(DB00893) GCCACTTCTTCCGCGAATTGG 0.587 11 33 --- --- --- --- PASS PPFIA3 8541 broad.mit.edu 37 19 49631724 49631724 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:49631724G>A uc002pmr.2 + 3 673 c.341G>A c.(340-342)CGG>CAG p.R114Q PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Missense_Mutation_p.R38Q|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_5'Flank NM_003660 NP_003651 O75145 LIPA3_HUMAN PTPRF interacting protein alpha 3 114 Potential. cell surface|cytoplasm protein binding lung(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) AACAACACGCGGGTGAGGGGT 0.602 12 16 --- --- --- --- PASS PPFIA3 8541 broad.mit.edu 37 19 49631725 49631725 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:49631725G>A uc002pmr.2 + 3 674 c.342G>A c.(340-342)CGG>CGA p.R114R PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Silent_p.R38R|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_5'Flank NM_003660 NP_003651 O75145 LIPA3_HUMAN PTPRF interacting protein alpha 3 114 Potential. cell surface|cytoplasm protein binding lung(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) ACAACACGCGGGTGAGGGGTG 0.602 12 15 --- --- --- --- PASS CCDC155 147872 broad.mit.edu 37 19 49913125 49913125 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:49913125G>A uc002pnm.1 + 15 1436 c.1262G>A c.(1261-1263)GGG>GAG p.G421E CCDC155_uc010emx.1_Missense_Mutation_p.G392E NM_144688 NP_653289 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 421 integral to membrane calcium ion binding ovary(1)|central_nervous_system(1) 2 GCCCCAGCTGGGGGACAGGTG 0.582 18 20 --- --- --- --- PASS CCDC155 147872 broad.mit.edu 37 19 49913126 49913126 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:49913126G>A uc002pnm.1 + 15 1437 c.1263G>A c.(1261-1263)GGG>GGA p.G421G CCDC155_uc010emx.1_Silent_p.G392G NM_144688 NP_653289 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 421 integral to membrane calcium ion binding ovary(1)|central_nervous_system(1) 2 CCCCAGCTGGGGGACAGGTGA 0.582 18 20 --- --- --- --- PASS CPT1C 126129 broad.mit.edu 37 19 50208544 50208544 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:50208544G>A uc002ppj.2 + 9 1158 c.953G>A c.(952-954)GGG>GAG p.G318E CPT1C_uc002ppl.3_Missense_Mutation_p.G284E|CPT1C_uc002ppi.2_Missense_Mutation_p.G235E|CPT1C_uc002ppk.2_Missense_Mutation_p.G307E|CPT1C_uc010eng.2_Missense_Mutation_p.G318E|CPT1C_uc010enh.2_Missense_Mutation_p.G318E|CPT1C_uc010ybc.1_Missense_Mutation_p.G189E|CPT1C_uc010eni.1_5'Flank NM_152359 NP_689572 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C isoform 2 318 Cytoplasmic (Potential). fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) CGGATTCCAGGGGTCCAAAAA 0.408 12 43 --- --- --- --- PASS TSKS 60385 broad.mit.edu 37 19 50247621 50247621 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:50247621C>T uc002ppm.2 - 8 1239 c.1228G>A c.(1228-1230)GAA>AAA p.E410K NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN testis-specific kinase substrate 410 protein binding large_intestine(1)|skin(1) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CCCTCCAGTTCGCTCCTCAGT 0.582 14 23 --- --- --- --- PASS NAPSA 9476 broad.mit.edu 37 19 50864256 50864256 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:50864256C>T uc002prx.2 - 5 663 c.610G>A c.(610-612)GAT>AAT p.D204N NR1H2_uc002prv.3_Intron NM_004851 NP_004842 O96009 NAPSA_HUMAN napsin A preproprotein 204 proteolysis extracellular region aspartic-type endopeptidase activity 0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) ACCAGTACATCCATCGGGGGC 0.527 16 30 --- --- --- --- PASS SPIB 6689 broad.mit.edu 37 19 50926872 50926872 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:50926872C>T uc002psd.2 + 5 375 c.350C>T c.(349-351)CCC>CTC p.P117L SPIB_uc002pse.2_Missense_Mutation_p.P117L|SPIB_uc010ycc.1_Missense_Mutation_p.P26L NM_003121 NP_003112 Q01892 SPIB_HUMAN Spi-B transcription factor (Spi-1/PU.1 related) 117 regulation of transcription from RNA polymerase II promoter cytoplasm|microtubule cytoskeleton|nucleus sequence-specific DNA binding lung(1)|kidney(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) ACCCTGGTTCCCCCGGCATAT 0.642 5 17 --- --- --- --- PASS SYT3 84258 broad.mit.edu 37 19 51128808 51128808 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:51128808C>T uc002pst.2 - 6 2050 c.1416G>A c.(1414-1416)AAG>AAA p.K472K SYT3_uc002psv.2_Silent_p.K472K|SYT3_uc010ycd.1_Silent_p.K472K NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN synaptotagmin III 472 C2 2.|Cytoplasmic (Potential). cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|breast(1) 3 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) TCAGGGAGGCCTTCACGTAGG 0.408 4 10 --- --- --- --- PASS SIGLEC9 27180 broad.mit.edu 37 19 51630380 51630380 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:51630380C>T uc002pvu.2 + 4 909 c.842C>T c.(841-843)CCC>CTC p.P281L SIGLEC9_uc010yct.1_Missense_Mutation_p.P281L NM_014441 NP_055256 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 precursor 281 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) GACAGCAATCCCCCTGCCAGG 0.602 9 64 --- --- --- --- PASS SIGLEC7 27036 broad.mit.edu 37 19 51645695 51645695 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:51645695G>A uc002pvv.1 + 1 138 c.69G>A c.(67-69)CGG>CGA p.R23R SIGLEC7_uc002pvw.1_Silent_p.R23R|SIGLEC7_uc010eoq.1_RNA|SIGLEC7_uc010eor.1_Silent_p.R23R NM_014385 NP_055200 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 isoform 1 23 Extracellular (Potential). cell adhesion integral to plasma membrane receptor activity|sugar binding large_intestine(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) AGAGTAACCGGAAGGATTACT 0.522 10 13 --- --- --- --- PASS NKG7 4818 broad.mit.edu 37 19 51875759 51875759 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:51875759C>T uc002pwj.2 - 1 202 c.31G>A c.(31-33)GGG>AGG p.G11R NKG7_uc002pwk.2_Missense_Mutation_p.G11R NM_005601 NP_005592 Q16617 NKG7_HUMAN natural killer cell group 7 sequence 11 Helical; (Potential). integral to plasma membrane central_nervous_system(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) AGGGAGCCCCCCAGCAGGGCC 0.473 9 17 --- --- --- --- PASS SIGLEC12 89858 broad.mit.edu 37 19 52003495 52003495 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:52003495C>T uc002pwx.1 - 2 543 c.487G>A c.(487-489)GAG>AAG p.E163K SIGLEC12_uc002pww.1_Missense_Mutation_p.E45K|SIGLEC12_uc010eoy.1_Intron NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN sialic acid binding immunoglobulin-like 163 Ig-like V-type 2.|Extracellular (Potential). cell adhesion integral to membrane sugar binding ovary(3)|skin(2) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) CACAGACCCTCCTGCACAGTC 0.587 21 38 --- --- --- --- PASS SIGLEC12 89858 broad.mit.edu 37 19 52003496 52003496 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:52003496C>T uc002pwx.1 - 2 542 c.486G>A c.(484-486)CAG>CAA p.Q162Q SIGLEC12_uc002pww.1_Silent_p.Q44Q|SIGLEC12_uc010eoy.1_Intron NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN sialic acid binding immunoglobulin-like 162 Ig-like V-type 2.|Extracellular (Potential). cell adhesion integral to membrane sugar binding ovary(3)|skin(2) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) ACAGACCCTCCTGCACAGTCA 0.587 21 39 --- --- --- --- PASS FPR1 2357 broad.mit.edu 37 19 52249567 52249567 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:52249567C>T uc002pxq.2 - 2 776 c.681G>A c.(679-681)AAG>AAA p.K227K NM_002029 NP_002020 P21462 FPR1_HUMAN formyl peptide receptor 1 227 Cytoplasmic (Potential). activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity ovary(1)|lung(1)|skin(1) 3 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) GCTTGTGGATCTTGGTGGCAA 0.532 23 26 --- --- --- --- PASS ZNF615 284370 broad.mit.edu 37 19 52496630 52496630 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:52496630G>A uc002pye.1 - 6 1991 c.1699C>T c.(1699-1701)CCC>TCC p.P567S ZNF615_uc002pyf.1_Missense_Mutation_p.P578S|ZNF615_uc002pyg.1_Missense_Mutation_p.P459S|ZNF615_uc002pyh.1_Missense_Mutation_p.P578S|ZNF615_uc010epi.1_Missense_Mutation_p.P574S|ZNF615_uc010ydg.1_Missense_Mutation_p.P572S NM_198480 NP_940882 Q8N8J6 ZN615_HUMAN zinc finger protein 615 567 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) CATACATAGGGTTTCTCTCCT 0.428 30 29 --- --- --- --- PASS ZNF614 80110 broad.mit.edu 37 19 52521720 52521720 + Missense_Mutation SNP C G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:52521720C>G uc002pyj.2 - 3 445 c.43G>C c.(43-45)GTG>CTG p.V15L ZNF614_uc002pyi.3_Missense_Mutation_p.V15L|ZNF614_uc010epj.2_5'UTR NM_025040 NP_079316 Q8N883 ZN614_HUMAN zinc finger protein 614 15 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 5 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) CTGAATTCCACAGCCACATCC 0.418 12 20 --- --- --- --- PASS PPP2R1A 5518 broad.mit.edu 37 19 52724338 52724338 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:52724338C>T uc002pyp.2 + 12 1629 c.1470C>T c.(1468-1470)TCC>TCT p.S490S PPP2R1A_uc010ydk.1_Silent_p.S435S|PPP2R1A_uc002pyq.2_Silent_p.S311S NM_014225 NP_055040 P30153 2AAA_HUMAN alpha isoform of regulatory subunit A, protein 490 PP2A subunit C binding.|HEAT 13. 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) TGGCCATGTCCGGAGACCCCA 0.592 Mis clear cell ovarian carcinoma 17 57 --- --- --- --- PASS ZNF610 162963 broad.mit.edu 37 19 52857607 52857607 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:52857607G>A uc002pyx.3 + 5 700 c.294G>A c.(292-294)AGG>AGA p.R98R ZNF610_uc002pyy.3_Silent_p.R98R|ZNF610_uc002pyz.3_Intron|ZNF610_uc002pza.2_Silent_p.R98R NM_001161426 NP_001154898 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 isoform a 98 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) CAGATGGAAGGGAATGTGTCA 0.338 19 9 --- --- --- --- PASS ZNF528 84436 broad.mit.edu 37 19 52919338 52919338 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:52919338C>T uc002pzh.2 + 7 1659 c.1233C>T c.(1231-1233)TGC>TGT p.C411C ZNF528_uc002pzi.2_Silent_p.C178C NM_032423 NP_115799 Q3MIS6 ZN528_HUMAN zinc finger protein 528 411 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) CTTATGGATGCAGTCAGTGTG 0.403 12 31 --- --- --- --- PASS ZNF578 147660 broad.mit.edu 37 19 53014301 53014301 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:53014301G>A uc002pzp.3 + 6 911 c.667G>A c.(667-669)GAA>AAA p.E223K NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) ACAAAAACAGGAAGTACACAT 0.338 13 60 --- --- --- --- PASS ZNF578 147660 broad.mit.edu 37 19 53014382 53014382 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:53014382C>T uc002pzp.3 + 6 992 c.748C>T c.(748-750)CAG>TAG p.Q250* NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 25 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) AAGGAAACATCAGATAATCCA 0.353 9 76 --- --- --- --- PASS ZNF578 147660 broad.mit.edu 37 19 53014608 53014608 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:53014608G>A uc002pzp.3 + 6 1218 c.974G>A c.(973-975)AGT>AAT p.S325N NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 100 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) AAGTCCTTCAGTTACAAGTCA 0.423 38 54 --- --- --- --- PASS ZNF578 147660 broad.mit.edu 37 19 53015300 53015300 + Missense_Mutation SNP A C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:53015300A>C uc002pzp.3 + 6 1910 c.1666A>C c.(1666-1668)AAC>CAC p.N556H NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 331 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) TTATCTGGCAAACCATACTAG 0.403 24 35 --- --- --- --- PASS ZNF600 162966 broad.mit.edu 37 19 53269658 53269658 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:53269658A>G uc002qab.3 - 3 1637 c.1351T>C c.(1351-1353)TTC>CTC p.F451L NM_198457 NP_940859 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 451 C2H2-type 11; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) CCACAACTGAAAACCTTTTCA 0.373 20 64 --- --- --- --- PASS ZNF677 342926 broad.mit.edu 37 19 53741139 53741139 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:53741139G>A uc002qbf.1 - 5 1026 c.841C>T c.(841-843)CAT>TAT p.H281Y ZNF677_uc002qbg.1_Missense_Mutation_p.H281Y NM_182609 NP_872415 Q86XU0 ZN677_HUMAN zinc finger protein 677 281 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00352) ATTCTCTGATGATTAGTGAGG 0.398 9 33 --- --- --- --- PASS VN1R2 317701 broad.mit.edu 37 19 53762721 53762721 + Missense_Mutation SNP T G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:53762721T>G uc002qbi.2 + 1 1177 c.1093T>G c.(1093-1095)TTT>GTT p.F365V NM_173856 NP_776255 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 365 Helical; Name=7; (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 GBM - Glioblastoma multiforme(134;0.00301) TATTAGCCCTTTTGTTCTCAT 0.433 46 45 --- --- --- --- PASS VN1R4 317703 broad.mit.edu 37 19 53770583 53770583 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:53770583C>T uc010ydu.1 - 1 336 c.336G>A c.(334-336)AGG>AGA p.R112R NM_173857 NP_776256 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 112 Cytoplasmic (Potential). response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(134;0.00294) ACCTGGATTTCCTGGAGCTGA 0.498 HNSCC(26;0.072) 5 9 --- --- --- --- PASS ZNF761 388561 broad.mit.edu 37 19 53959500 53959500 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:53959500G>T uc010eqp.2 + 7 2197 c.1739G>T c.(1738-1740)TGT>TTT p.C580F ZNF761_uc010ydy.1_Missense_Mutation_p.C526F|ZNF761_uc002qbt.1_Missense_Mutation_p.C526F NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 580 C2H2-type 14; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) CCTTACAAATGTGAAGATAGT 0.388 33 48 --- --- --- --- PASS MIR524 574478 broad.mit.edu 37 19 54214278 54214278 + RNA SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:54214278G>A hsa-mir-524|MI0003160 + c.23G>A MIR517A_hsa-mir-517a|MI0003161_5'Flank|MIR519D_hsa-mir-519d|MI0003162_5'Flank 0 ACCCTACAAAGGGAAGCACTT 0.433 23 112 --- --- --- --- PASS MIR521-2 574481 broad.mit.edu 37 19 54219882 54219882 + RNA SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:54219882C>T hsa-mir-521-2|MI0003163 + c.35C>T 0 GAAGAATTTTCTCTTGTCTAA 0.423 53 96 --- --- --- --- PASS MIR517B 574483 broad.mit.edu 37 19 54224374 54224374 + RNA SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:54224374C>T hsa-mir-517b|MI0003165 + c.45C>T MIR520G_hsa-mir-520g|MI0003166_5'Flank 0 AAGAAAAGATCGTGCATCCCT 0.398 17 81 --- --- --- --- PASS MIR516B1 574490 broad.mit.edu 37 19 54240181 54240181 + RNA SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:54240181C>T hsa-mir-516b-1|MI0003172 + c.83C>T MIR518A2_hsa-mir-518a-2|MI0003173_5'Flank 0 GAGGGTTACTCTTTGAGAAAA 0.408 15 47 --- --- --- --- PASS NLRP12 91662 broad.mit.edu 37 19 54304506 54304506 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:54304506G>A uc002qch.3 - 7 2951 c.2731C>T c.(2731-2733)CCC>TCC p.P911S NLRP12_uc010eqw.2_Missense_Mutation_p.P194S|NLRP12_uc002qci.3_Missense_Mutation_p.P911S|NLRP12_uc002qcj.3_Missense_Mutation_p.P912S|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 911 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TTGCACGTGGGATGCCTGAGG 0.622 4 15 --- --- --- --- PASS TMC4 147798 broad.mit.edu 37 19 54675741 54675741 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:54675741C>T uc010erf.2 - 2 341 c.209G>A c.(208-210)GGA>GAA p.G70E TMC4_uc002qdo.2_Missense_Mutation_p.G64E NM_001145303 NP_001138775 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 isoform 1 70 Extracellular (Potential). integral to membrane pancreas(1) 1 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TCTGCTCCTTCCTCCATCCTC 0.647 8 39 --- --- --- --- PASS LILRA6 79168 broad.mit.edu 37 19 54744735 54744735 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:54744735G>A uc002qeu.1 - 5 1051 c.927C>T c.(925-927)CCC>CCT p.P309P LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Silent_p.P309P|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Silent_p.P309P|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.P309P|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Silent_p.P309P|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Silent_p.P309P|LILRA6_uc010yeq.1_Silent_p.P309P|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Silent_p.P170P NM_024318 NP_077294 Q6PI73 LIRA6_HUMAN leukocyte immunoglobulin-like receptor, 309 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane receptor activity skin(2) 2 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGGTCGCTGGGGGCCGACC 0.677 15 66 --- --- --- --- PASS LILRB5 10990 broad.mit.edu 37 19 54760033 54760033 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:54760033G>A uc002qex.2 - 4 639 c.528C>T c.(526-528)TCC>TCT p.S176S LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Silent_p.S167S|LILRB5_uc002qey.2_Silent_p.S176S|LILRB5_uc002qez.2_Intron|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Intron NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 176 Extracellular (Potential).|Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ACAGGGCCTGGGATGGCCCTT 0.547 11 36 --- --- --- --- PASS LILRB5 10990 broad.mit.edu 37 19 54760446 54760446 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:54760446G>A uc002qex.2 - 3 372 c.261C>T c.(259-261)TCC>TCT p.S87S LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Silent_p.S87S|LILRB5_uc002qey.2_Silent_p.S87S|LILRB5_uc002qez.2_Silent_p.S87S|LILRB5_uc002qfa.1_Silent_p.S77S|LILRB5_uc010yes.1_RNA NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 87 Ig-like C2-type 1.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CATACACCGTGGATGGAATGT 0.602 18 125 --- --- --- --- PASS LILRB5 10990 broad.mit.edu 37 19 54760447 54760447 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:54760447G>A uc002qex.2 - 3 371 c.260C>T c.(259-261)TCC>TTC p.S87F LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.S87F|LILRB5_uc002qey.2_Missense_Mutation_p.S87F|LILRB5_uc002qez.2_Missense_Mutation_p.S87F|LILRB5_uc002qfa.1_Missense_Mutation_p.S77F|LILRB5_uc010yes.1_RNA NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 87 Ig-like C2-type 1.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ATACACCGTGGATGGAATGTG 0.607 19 126 --- --- --- --- PASS LILRA3 11026 broad.mit.edu 37 19 54802093 54802093 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:54802093G>A uc002qfd.2 - 6 1160 c.1095C>T c.(1093-1095)TCC>TCT p.S365S LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Silent_p.S301S NM_006865 NP_006856 Q8N6C8 LIRA3_HUMAN leukocyte immunoglobulin-like receptor, 365 Ig-like C2-type 4. defense response extracellular region|plasma membrane antigen binding|receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GACGCAGCGGGGAATCAGCTG 0.587 22 61 --- --- --- --- PASS LILRA3 11026 broad.mit.edu 37 19 54802698 54802698 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:54802698G>A uc002qfd.2 - 5 808 c.743C>T c.(742-744)TCT>TTT p.S248F LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Missense_Mutation_p.S184F NM_006865 NP_006856 Q8N6C8 LIRA3_HUMAN leukocyte immunoglobulin-like receptor, 248 Ig-like C2-type 3. defense response extracellular region|plasma membrane antigen binding|receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GCCGGCATCAGAGCCACACTG 0.612 7 26 --- --- --- --- PASS LENG9 94059 broad.mit.edu 37 19 54973752 54973752 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:54973752C>T uc010yez.1 - 1 1143 c.1024G>A c.(1024-1026)GAA>AAA p.E342K NM_198988 NP_945339 Q96B70 LENG9_HUMAN leukocyte receptor cluster (LRC) member 9 342 RNA metabolic process intracellular catalytic activity|nucleic acid binding|zinc ion binding 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.134) ACCAGGTATTCCTGGGCCTTG 0.632 8 28 --- --- --- --- PASS LILRA2 11027 broad.mit.edu 37 19 55098690 55098690 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:55098690G>A uc002qgg.3 + 8 1418 c.1329G>A c.(1327-1329)CAG>CAA p.Q443Q LILRA2_uc010ern.2_3'UTR|LILRA2_uc002qgf.2_Silent_p.Q426Q|LILRA2_uc010ero.2_Silent_p.Q414Q|LILRA2_uc010yfg.1_Intron NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 443 Extracellular (Potential). defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) AACACCCCCAGGATTACACAG 0.592 9 73 --- --- --- --- PASS LILRB1 10859 broad.mit.edu 37 19 55143641 55143641 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:55143641C>T uc002qgj.2 + 6 954 c.614C>T c.(613-615)CCC>CTC p.P205L LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.P205L|LILRB1_uc002qgk.2_Missense_Mutation_p.P205L|LILRB1_uc002qgm.2_Missense_Mutation_p.P205L|LILRB1_uc010erq.2_Missense_Mutation_p.P205L|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 205 Ig-like C2-type 2.|Extracellular (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) TCGAACTCTCCCTATGAGTGG 0.607 HNSCC(37;0.09) 23 43 --- --- --- --- PASS KIR3DL3 115653 broad.mit.edu 37 19 55247337 55247337 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:55247337G>A uc002qgu.1 + 7 1123 c.1105G>A c.(1105-1107)GAG>AAG p.E369K KIR2DL3_uc002qgv.2_Intron|KIR2DL3_uc002qgx.2_5'Flank|KIR2DL3_uc002qgy.2_5'Flank|KIR2DL3_uc010erw.1_5'Flank NM_153443 NP_703144 Q8N743 KI3L3_HUMAN killer cell immunoglobulin-like receptor, three 369 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(193;0.0192) AGTGAACAGGGAGGTAGGTGC 0.552 34 55 --- --- --- --- PASS KIR2DL3 3804 broad.mit.edu 37 19 55255278 55255278 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:55255278G>A uc002qgv.2 + 4 424 c.406G>A c.(406-408)GGC>AGC p.G136S KIR2DL3_uc002qgx.2_Missense_Mutation_p.G136S|KIR2DL3_uc002qgy.2_Intron|KIR2DL3_uc010erw.1_Missense_Mutation_p.G136S|KIR2DL1_uc002qgz.1_Missense_Mutation_p.G46S|KIR2DL3_uc002qha.1_Intron NM_015868 NP_056952 P43628 KI2L3_HUMAN killer cell immunoglobulin-like receptor, two 136 Extracellular (Potential). immune response|regulation of immune response integral to plasma membrane antigen binding|protein binding|receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(193;0.0192) AGCCCAGCCGGGCCCCACGGT 0.572 25 29 --- --- --- --- PASS KIR3DL1 3811 broad.mit.edu 37 19 55329785 55329785 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:55329785C>T uc002qhk.3 + 3 149 c.86C>T c.(85-87)CCC>CTC p.P29L KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_5'UTR|KIR3DL1_uc010esf.2_Intron|KIR3DL1_uc010yfo.1_5'UTR|KIR3DL1_uc002qhl.3_Missense_Mutation_p.P29L NM_013289 NP_037421 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three 29 Extracellular (Potential). immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) CAGGACAAACCCTTCCTGTCT 0.557 33 20 --- --- --- --- PASS KIR3DL1 3811 broad.mit.edu 37 19 55329913 55329913 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:55329913C>T uc002qhk.3 + 3 277 c.214C>T c.(214-216)CAT>TAT p.H72Y KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.H14Y|KIR3DL1_uc010esf.2_Intron|KIR3DL1_uc010yfo.1_Missense_Mutation_p.H14Y|KIR3DL1_uc002qhl.3_Missense_Mutation_p.H72Y NM_013289 NP_037421 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three 72 Extracellular (Potential).|Ig-like C2-type 1. immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) TCCCATCTTCCATGGCAGAAT 0.502 11 46 --- --- --- --- PASS KIR2DS4 3809 broad.mit.edu 37 19 55349152 55349152 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:55349152G>A uc002qhm.1 + 3 238 c.192G>A c.(190-192)GGG>GGA p.G64G KIR2DS4_uc010yfj.1_Silent_p.G57G|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Silent_p.G64G|KIR2DS4_uc002qhn.1_Silent_p.G11G NM_012314 NP_036446 P43632 KI2S4_HUMAN killer cell immunoglobulin-like receptor, two 64 Extracellular (Potential).|Ig-like C2-type 1. integral to plasma membrane receptor activity 0 GBM - Glioblastoma multiforme(193;0.0192) ACAGAGAGGGGAAGTTTAACA 0.512 35 174 --- --- --- --- PASS FCAR 2204 broad.mit.edu 37 19 55396865 55396865 + Missense_Mutation SNP C G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:55396865C>G uc002qhr.1 + 3 486 c.289C>G c.(289-291)CGC>GGC p.R97G FCAR_uc002qhq.2_Missense_Mutation_p.R97G|FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Missense_Mutation_p.R70G|FCAR_uc010esi.1_Missense_Mutation_p.R70G|FCAR_uc002qhu.1_Missense_Mutation_p.R97G|FCAR_uc002qhv.1_Missense_Mutation_p.R97G|FCAR_uc002qhw.1_Missense_Mutation_p.R85G|FCAR_uc002qhx.1_Missense_Mutation_p.R85G|FCAR_uc002qhy.1_Missense_Mutation_p.R85G|FCAR_uc002qhz.1_Missense_Mutation_p.R85G|FCAR_uc002qia.1_Intron NM_002000 NP_001991 P24071 FCAR_HUMAN Fc alpha receptor isoform a precursor 97 Extracellular (Potential).|Ig-like C2-type 1. immune response extracellular region|integral to plasma membrane IgA binding|receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(193;0.0443) CAAGGCAGGGCGCTATCAGTG 0.502 15 38 --- --- --- --- PASS NCR1 9437 broad.mit.edu 37 19 55417961 55417961 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:55417961G>A uc002qib.2 + 3 189 c.151G>A c.(151-153)GGA>AGA p.G51R NCR1_uc002qic.2_Missense_Mutation_p.G51R|NCR1_uc002qie.2_Missense_Mutation_p.G51R|NCR1_uc002qid.2_Intron|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Intron NM_004829 NP_004820 O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 51 Ig-like 1.|Extracellular (Potential). cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(193;0.0449) CTGTTGCCAGGGAAATTATGG 0.488 7 60 --- --- --- --- PASS NLRP7 199713 broad.mit.edu 37 19 55451163 55451163 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:55451163G>A uc002qih.3 - 4 1100 c.1024C>T c.(1024-1026)CAA>TAA p.Q342* NLRP7_uc002qig.3_Nonsense_Mutation_p.Q342*|NLRP7_uc002qii.3_Nonsense_Mutation_p.Q342*|NLRP7_uc010esk.2_Nonsense_Mutation_p.Q342*|NLRP7_uc010esl.2_Nonsense_Mutation_p.Q370* NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 342 NACHT. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) CGCATGGCTTGGTCCTCGTCT 0.617 6 14 --- --- --- --- PASS NLRP7 199713 broad.mit.edu 37 19 55451164 55451164 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:55451164G>A uc002qih.3 - 4 1099 c.1023C>T c.(1021-1023)GAC>GAT p.D341D NLRP7_uc002qig.3_Silent_p.D341D|NLRP7_uc002qii.3_Silent_p.D341D|NLRP7_uc010esk.2_Silent_p.D341D|NLRP7_uc010esl.2_Silent_p.D369D NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 341 NACHT. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) GCATGGCTTGGTCCTCGTCTC 0.617 7 13 --- --- --- --- PASS NLRP2 55655 broad.mit.edu 37 19 55493720 55493720 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:55493720G>A uc002qij.2 + 6 740 c.654G>A c.(652-654)GGG>GGA p.G218G NLRP2_uc010yfp.1_Silent_p.G195G|NLRP2_uc010esn.2_Silent_p.G194G|NLRP2_uc010eso.2_Silent_p.G215G|NLRP2_uc010esp.2_Silent_p.G196G NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 218 NACHT.|ATP (Potential). apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CAGGCCTTGGGAAAACCACGC 0.547 21 31 --- --- --- --- PASS SYT5 6861 broad.mit.edu 37 19 55686339 55686339 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:55686339G>A uc002qjm.1 - 6 1797 c.737C>T c.(736-738)TCC>TTC p.S246F SYT5_uc002qjp.2_Missense_Mutation_p.S242F|SYT5_uc002qjn.1_Missense_Mutation_p.S246F|SYT5_uc002qjo.1_Missense_Mutation_p.S245F NM_003180 NP_003171 O00445 SYT5_HUMAN synaptotagmin V 246 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) ATAGCGGAGGGAGAAGCAGAT 0.597 7 20 --- --- --- --- PASS NLRP9 338321 broad.mit.edu 37 19 56220399 56220399 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:56220399G>A uc002qly.2 - 9 2883 c.2855C>T c.(2854-2856)TCT>TTT p.S952F NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 952 cytoplasm ATP binding skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) ATCAAAGCCAGATTTGTGCAG 0.383 8 32 --- --- --- --- PASS NLRP11 204801 broad.mit.edu 37 19 56297027 56297027 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:56297027C>T uc010ygf.1 - 12 3777 c.3066G>A c.(3064-3066)ATG>ATA p.M1022I NLRP11_uc002qlz.2_Missense_Mutation_p.M869I|NLRP11_uc002qmb.2_Missense_Mutation_p.M923I|NLRP11_uc002qmc.2_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 1022 ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TTGACGTTCTCATGGCTGCAG 0.378 14 18 --- --- --- --- PASS NLRP11 204801 broad.mit.edu 37 19 56329493 56329493 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:56329493C>T uc010ygf.1 - 4 759 c.48G>A c.(46-48)GAG>GAA p.E16E NLRP11_uc002qmb.2_Intron|NLRP11_uc002qmc.2_Intron|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 16 DAPIN. ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CACTGAGATTCTCTAGATACC 0.428 12 21 --- --- --- --- PASS NLRP4 147945 broad.mit.edu 37 19 56363641 56363641 + Silent SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:56363641A>G uc002qmd.3 + 2 617 c.195A>G c.(193-195)GAA>GAG p.E65E NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 65 DAPIN. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ACTATGAAGAACAACAAGCTT 0.438 15 45 --- --- --- --- PASS NLRP4 147945 broad.mit.edu 37 19 56369181 56369181 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:56369181C>T uc002qmd.3 + 3 844 c.422C>T c.(421-423)CCC>CTC p.P141L NLRP4_uc002qmf.2_Missense_Mutation_p.P66L|NLRP4_uc010etf.2_5'UTR NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 141 ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CTTTTTGCTCCCAAGGAAGCT 0.488 20 78 --- --- --- --- PASS NLRP4 147945 broad.mit.edu 37 19 56369416 56369416 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:56369416C>T uc002qmd.3 + 3 1079 c.657C>T c.(655-657)ATC>ATT p.I219I NLRP4_uc002qmf.2_Silent_p.I144I|NLRP4_uc010etf.2_Silent_p.I50I NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 219 NACHT. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TAACAGAGATCGTGTCTCAAC 0.537 30 68 --- --- --- --- PASS NLRP4 147945 broad.mit.edu 37 19 56370083 56370083 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:56370083G>A uc002qmd.3 + 3 1746 c.1324G>A c.(1324-1326)GGG>AGG p.G442R NLRP4_uc002qmf.2_Missense_Mutation_p.G367R|NLRP4_uc010etf.2_Missense_Mutation_p.G273R NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 442 NACHT. ATP binding p.G442R(1) ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TCTGAAGTACGGGGAGCGTGA 0.532 7 58 --- --- --- --- PASS NLRP13 126204 broad.mit.edu 37 19 56422029 56422029 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:56422029G>T uc010ygg.1 - 6 2207 c.2182C>A c.(2182-2184)CTG>ATG p.L728M NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 728 LRR 1. 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) AGCTCATGCAGATTCTCATTT 0.453 14 59 --- --- --- --- PASS NLRP13 126204 broad.mit.edu 37 19 56423076 56423076 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:56423076G>A uc010ygg.1 - 5 2132 c.2107C>T c.(2107-2109)CTG>TTG p.L703L NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 703 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) ACTCACTCCAGAATTTCCAAG 0.393 18 58 --- --- --- --- PASS NLRP13 126204 broad.mit.edu 37 19 56423566 56423566 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:56423566G>A uc010ygg.1 - 5 1642 c.1617C>T c.(1615-1617)TTC>TTT p.F539F NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 539 NACHT. 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) AAAACTCCTGGAAACTTAGGT 0.453 41 43 --- --- --- --- PASS NLRP13 126204 broad.mit.edu 37 19 56423896 56423896 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:56423896C>T uc010ygg.1 - 5 1312 c.1287G>A c.(1285-1287)TGG>TGA p.W429* NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 429 NACHT. 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) AACATACGGTCCAACACACCA 0.453 10 63 --- --- --- --- PASS NLRP5 126206 broad.mit.edu 37 19 56515202 56515202 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:56515202C>T uc002qmj.2 + 2 183 c.183C>T c.(181-183)TCC>TCT p.S61S NLRP5_uc002qmi.2_Silent_p.S61S NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 61 DAPIN. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TCACCTTTTCCAGCTACGGGC 0.428 20 73 --- --- --- --- PASS NLRP5 126206 broad.mit.edu 37 19 56569657 56569657 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:56569657C>T uc002qmj.2 + 14 3351 c.3351C>T c.(3349-3351)GCC>GCT p.A1117A NLRP5_uc002qmi.2_Silent_p.A1098A NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 1117 mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TCTCCTTGGCCCTTTCCTGCA 0.517 31 37 --- --- --- --- PASS ZSCAN5B 342933 broad.mit.edu 37 19 56701471 56701471 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:56701471G>A uc010ygh.1 - 4 1213 c.1213C>T c.(1213-1215)CAC>TAC p.H405Y NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 405 C2H2-type 2. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 TCGCCAGTGTGGACTCGCTGG 0.592 13 31 --- --- --- --- PASS ZSCAN5B 342933 broad.mit.edu 37 19 56701472 56701472 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:56701472G>A uc010ygh.1 - 4 1212 c.1212C>T c.(1210-1212)GTC>GTT p.V404V NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 404 C2H2-type 2. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 CGCCAGTGTGGACTCGCTGGT 0.592 13 32 --- --- --- --- PASS ZNF583 147949 broad.mit.edu 37 19 56935574 56935574 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:56935574G>A uc010ygl.1 + 5 1712 c.1547G>A c.(1546-1548)GGA>GAA p.G516E ZNF583_uc002qnc.2_Missense_Mutation_p.G516E|ZNF583_uc010ygm.1_Missense_Mutation_p.G516E NM_001159860 NP_001153332 Q96ND8 ZN583_HUMAN zinc finger protein 583 516 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0564) ATTCATACTGGAGAAAGACCC 0.343 33 49 --- --- --- --- PASS ZNF667 63934 broad.mit.edu 37 19 56969570 56969570 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:56969570C>T uc002qnd.2 - 4 369 c.207G>A c.(205-207)GGG>GGA p.G69G ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Silent_p.G69G|ZNF667_uc010etm.2_5'UTR NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 69 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) AGGGTGCTTTCCCTTTCTCCA 0.423 12 40 --- --- --- --- PASS ZNF667 63934 broad.mit.edu 37 19 56973716 56973716 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:56973716G>A uc002qnd.2 - 2 186 c.24C>T c.(22-24)TCC>TCT p.S8S ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Silent_p.S8S|ZNF667_uc010etm.2_5'UTR NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) CCTTGGATTTGGATTTCCCCC 0.537 46 77 --- --- --- --- PASS ZNF471 57573 broad.mit.edu 37 19 57035792 57035792 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:57035792C>T uc002qnh.2 + 5 489 c.356C>T c.(355-357)TCC>TTC p.S119F NM_020813 NP_065864 Q9BX82 ZN471_HUMAN zinc finger protein 471 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) CTTGAGTGTTCCACTTTTGAA 0.378 15 27 --- --- --- --- PASS ZNF471 57573 broad.mit.edu 37 19 57035940 57035940 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:57035940C>T uc002qnh.2 + 5 637 c.504C>T c.(502-504)ATC>ATT p.I168I NM_020813 NP_065864 Q9BX82 ZN471_HUMAN zinc finger protein 471 168 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) GGAAATGTATCCATCTGGAAA 0.299 10 17 --- --- --- --- PASS ZFP28 140612 broad.mit.edu 37 19 57060384 57060384 + Missense_Mutation SNP G A A rs151188111 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:57060384G>A uc002qnj.2 + 5 652 c.581G>A c.(580-582)GGA>GAA p.G194E ZFP28_uc002qni.2_Missense_Mutation_p.G194E|uc002qnk.1_Intron NM_020828 NP_065879 Q8NHY6 ZFP28_HUMAN zinc finger protein 28 194 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) TTCTGCGAAGGAAAGCTATCC 0.418 7 21 --- --- --- --- PASS ZNF470 388566 broad.mit.edu 37 19 57085888 57085888 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:57085888G>T uc002qnl.3 + 4 862 c.186G>T c.(184-186)GTG>GTT p.V62V ZNF470_uc010etn.2_RNA NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN zinc finger protein 470 62 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) TAGTTTCAGTGGGTAAGAGTA 0.408 5 86 --- --- --- --- PASS ZNF71 58491 broad.mit.edu 37 19 57133813 57133813 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:57133813C>T uc002qnm.3 + 3 1396 c.1158C>T c.(1156-1158)ATC>ATT p.I386I NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 386 C2H2-type 10. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) AGTGCTACATCTGCAAGAAGC 0.632 18 47 --- --- --- --- PASS ZNF835 90485 broad.mit.edu 37 19 57176237 57176237 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:57176237C>T uc010ygo.1 - 2 396 c.396G>A c.(394-396)TGG>TGA p.W132* ZNF835_uc010ygn.1_Nonsense_Mutation_p.W110* NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 CCCCGCATTTCCACGGCTTCT 0.637 7 50 --- --- --- --- PASS ZNF835 90485 broad.mit.edu 37 19 57176473 57176473 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:57176473C>T uc010ygo.1 - 2 160 c.160G>A c.(160-162)GAA>AAA p.E54K ZNF835_uc010ygn.1_Missense_Mutation_p.E32K NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 GGACAGCTTTCCTGGTTTTCC 0.587 13 28 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57328601 57328601 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:57328601C>T uc002qnu.2 - 7 1560 c.1209G>A c.(1207-1209)TCG>TCA p.S403S ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.S374S|PEG3_uc002qnv.2_Silent_p.S403S|PEG3_uc002qnw.2_Silent_p.S279S|PEG3_uc002qnx.2_Silent_p.S277S|PEG3_uc010etr.2_Silent_p.S403S NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 403 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GATCGTGAATCGAGCCCTTCC 0.478 16 76 --- --- --- --- PASS USP29 57663 broad.mit.edu 37 19 57642683 57642683 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:57642683C>T uc002qny.2 + 4 2996 c.2640C>T c.(2638-2640)TTC>TTT p.F880F NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 880 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) GGTATATCTTCTTTTACATGC 0.473 18 32 --- --- --- --- PASS ZIM3 114026 broad.mit.edu 37 19 57649966 57649966 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:57649966C>T uc002qnz.1 - 3 402 c.16G>A c.(16-18)GGA>AGA p.G6R NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 6 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTCACTCTTCCCTGTAACAAC 0.478 13 47 --- --- --- --- PASS ZNF304 57343 broad.mit.edu 37 19 57869017 57869017 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:57869017A>G uc010ygw.1 + 3 2168 c.1780A>G c.(1780-1782)AAA>GAA p.K594E ZNF304_uc010etw.2_Missense_Mutation_p.K641E|ZNF304_uc010etx.2_Missense_Mutation_p.K552E NM_020657 NP_065708 Q9HCX3 ZN304_HUMAN zinc finger protein 304 594 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) TGAATGTGGGAAATTCTTTAG 0.478 13 50 --- --- --- --- PASS VN1R1 57191 broad.mit.edu 37 19 57967657 57967657 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:57967657G>A uc002qos.1 - 1 198 c.198C>T c.(196-198)CTC>CTT p.L66L ZNF547_uc002qpm.3_Intron NM_020633 NP_065684 Q9GZP7 VN1R1_HUMAN vomeronasal 1 receptor 1 66 Helical; Name=1; (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171) AAAAACAAAGGAGAAAGGAAT 0.418 9 35 --- --- --- --- PASS ZNF550 162972 broad.mit.edu 37 19 58059242 58059242 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:58059242C>A uc002qpe.1 - 2 247 c.247G>T c.(247-249)GGG>TGG p.G83W ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF550_uc002qpc.2_RNA|ZNF550_uc010eue.1_RNA|ZNF550_uc002qpd.2_RNA NM_001039654 NP_001034743 Q7Z398 ZN550_HUMAN zinc finger protein 550 124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTAGCTCTCCCCAACCTCGAA 0.532 6 146 --- --- --- --- PASS ZNF416 55659 broad.mit.edu 37 19 58083606 58083606 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:58083606C>A uc002qpf.2 - 4 1837 c.1666G>T c.(1666-1668)GGG>TGG p.G556W ZNF547_uc002qpm.3_Intron NM_017879 NP_060349 Q9BWM5 ZN416_HUMAN zinc finger protein 416 556 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) AAGGACTTCCCACATTTGCCA 0.498 5 92 --- --- --- --- PASS ZNF671 79891 broad.mit.edu 37 19 58232072 58232072 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:58232072C>T uc002qpz.3 - 4 1481 c.1382G>A c.(1381-1383)AGC>AAC p.S461N ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Missense_Mutation_p.S384N|ZNF671_uc010yhf.1_Missense_Mutation_p.S363N NM_024833 NP_079109 Q8TAW3 ZN671_HUMAN zinc finger protein 671 461 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GGAGATGCAGCTGAAAGCTTT 0.468 27 45 --- --- --- --- PASS ZNF776 284309 broad.mit.edu 37 19 58265935 58265935 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:58265935G>A uc002qpx.2 + 3 1660 c.1437G>A c.(1435-1437)CAG>CAA p.Q479Q ZNF587_uc002qqb.2_Intron|ZNF776_uc002qqa.2_Silent_p.Q479Q NM_173632 NP_775903 Q68DI1 ZN776_HUMAN zinc finger protein 776 479 C2H2-type 10; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256) TTCGACATCAGCAGATTCACT 0.453 36 44 --- --- --- --- PASS ZSCAN18 65982 broad.mit.edu 37 19 58601296 58601296 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:58601296G>A uc002qri.2 - 2 648 c.339C>T c.(337-339)TAC>TAT p.Y113Y ZSCAN18_uc002qrj.3_Silent_p.Y113Y|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Silent_p.Y113Y|ZSCAN18_uc010yht.1_Silent_p.Y169Y|ZSCAN18_uc002qrk.1_Silent_p.Y113Y|ZSCAN18_uc002qrl.2_Silent_p.Y113Y NM_001145543 NP_001139015 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 113 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) AGCTCTCAGGGTACTGTGCCA 0.632 9 51 --- --- --- --- PASS ZSCAN18 65982 broad.mit.edu 37 19 58601475 58601475 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:58601475C>T uc002qri.2 - 2 469 c.160G>A c.(160-162)GAA>AAA p.E54K ZSCAN18_uc002qrj.3_Missense_Mutation_p.E54K|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.E54K|ZSCAN18_uc010yht.1_Missense_Mutation_p.E110K|ZSCAN18_uc002qrk.1_Missense_Mutation_p.E54K|ZSCAN18_uc002qrl.2_Missense_Mutation_p.E54K NM_001145543 NP_001139015 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 54 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) TAGACAAATTCCCGGAAACGC 0.677 11 14 --- --- --- --- PASS PSMF1 9491 broad.mit.edu 37 20 1115883 1115883 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:1115883C>T uc002wel.3 + 5 653 c.485C>T c.(484-486)ACC>ATC p.T162I PSMF1_uc010zpo.1_Missense_Mutation_p.T74I|PSMF1_uc002wem.3_Missense_Mutation_p.T162I|PSMF1_uc010zpp.1_Intron|PSMF1_uc002wen.3_Missense_Mutation_p.T162I|PSMF1_uc002wep.3_Missense_Mutation_p.T113I NM_178578 NP_848693 Q92530 PSMF1_HUMAN proteasome inhibitor subunit 1 162 Pro-rich. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome core complex endopeptidase inhibitor activity|protein binding 0 CCCCCTGCTACCGCCAGAGAG 0.587 20 16 --- --- --- --- PASS PSMF1 9491 broad.mit.edu 37 20 1115884 1115884 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:1115884C>T uc002wel.3 + 5 654 c.486C>T c.(484-486)ACC>ACT p.T162T PSMF1_uc010zpo.1_Silent_p.T74T|PSMF1_uc002wem.3_Silent_p.T162T|PSMF1_uc010zpp.1_Intron|PSMF1_uc002wen.3_Silent_p.T162T|PSMF1_uc002wep.3_Silent_p.T113T NM_178578 NP_848693 Q92530 PSMF1_HUMAN proteasome inhibitor subunit 1 162 Pro-rich. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome core complex endopeptidase inhibitor activity|protein binding 0 CCCCTGCTACCGCCAGAGAGG 0.582 20 16 --- --- --- --- PASS PSMF1 9491 broad.mit.edu 37 20 1145091 1145091 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:1145091C>T uc002wel.3 + 7 903 c.735C>T c.(733-735)CCC>CCT p.P245P PSMF1_uc010zpo.1_Silent_p.P157P|PSMF1_uc002wem.3_Silent_p.P245P|PSMF1_uc010zpp.1_Silent_p.P183P|PSMF1_uc002wen.3_Silent_p.P245P|PSMF1_uc002wep.3_Silent_p.P196P NM_178578 NP_848693 Q92530 PSMF1_HUMAN proteasome inhibitor subunit 1 245 Pro-rich. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome core complex endopeptidase inhibitor activity|protein binding 0 GCTTTGACCCCTTTGGACCCA 0.498 39 80 --- --- --- --- PASS SNPH 9751 broad.mit.edu 37 20 1277021 1277021 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:1277021C>T uc002wes.2 + 3 242 c.6C>T c.(4-6)GCC>GCT p.A2A SNPH_uc002wet.2_Silent_p.A46A NM_014723 NP_055538 O15079 SNPH_HUMAN syntaphilin 2 synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding ovary(2) 2 GCCTCATGGCCATGTCCCTGC 0.692 14 18 --- --- --- --- PASS CPXM1 56265 broad.mit.edu 37 20 2776894 2776894 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:2776894C>A uc002wgu.2 - 9 1305 c.1241G>T c.(1240-1242)CGG>CTG p.R414L CPXM1_uc010gas.2_Missense_Mutation_p.R414L NM_019609 NP_062555 Q96SM3 CPXM1_HUMAN carboxypeptidase X, member 1 precursor 414 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding ovary(2)|skin(2) 4 GTGGCCTACCCGGTGGTAGGC 0.622 4 44 --- --- --- --- PASS VPS16 64601 broad.mit.edu 37 20 2843558 2843558 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:2843558G>T uc002whe.2 + 13 1357 c.1309G>T c.(1309-1311)GGG>TGG p.G437W VPS16_uc002whh.2_RNA|PTPRA_uc002whj.2_5'Flank|VPS16_uc002whf.2_Intron|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.G123W|VPS16_uc002whi.2_5'Flank NM_022575 NP_072097 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 isoform 1 437 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome ovary(2)|pancreas(1)|skin(1) 4 CTATCACATCGGGATCCCGCT 0.582 5 130 --- --- --- --- PASS VPS16 64601 broad.mit.edu 37 20 2847114 2847114 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:2847114G>T uc002whe.2 + 24 2462 c.2414G>T c.(2413-2415)CGG>CTG p.R805L VPS16_uc002whh.2_Intron|PTPRA_uc002whj.2_Intron|VPS16_uc002whf.2_Missense_Mutation_p.R661L|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.R491L|VPS16_uc002whi.2_Missense_Mutation_p.R289L NM_022575 NP_072097 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 isoform 1 805 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome ovary(2)|pancreas(1)|skin(1) 4 ATCGAACACCGGAATGAGGCT 0.597 5 75 --- --- --- --- PASS ATRN 8455 broad.mit.edu 37 20 3543878 3543878 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:3543878T>A uc002wim.2 + 10 1744 c.1654T>A c.(1654-1656)TTT>ATT p.F552I ATRN_uc002wil.2_Missense_Mutation_p.F552I NM_139321 NP_647537 O75882 ATRN_HUMAN attractin isoform 1 552 Extracellular (Potential).|Kelch 4. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding ovary(1)|breast(1) 2 GGACAGCCGATTTTTCCGTTA 0.378 40 60 --- --- --- --- PASS ADAM33 80332 broad.mit.edu 37 20 3655426 3655426 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:3655426C>T uc002wit.2 - 5 491 c.404G>A c.(403-405)GGG>GAG p.G135E ADAM33_uc002wir.1_Missense_Mutation_p.G135E|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Missense_Mutation_p.G135E|ADAM33_uc002wiw.1_RNA|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.G147E|ADAM33_uc010zqh.1_Missense_Mutation_p.G135E NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 isoform alpha 135 Extracellular (Potential).|Cysteine switch (By similarity). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding large_intestine(2)|ovary(1)|skin(1) 4 TCACCTCATCCCAGAGCAGGT 0.627 16 22 --- --- --- --- PASS SIGLEC1 6614 broad.mit.edu 37 20 3675063 3675063 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:3675063C>T uc002wja.2 - 12 3061 c.3061G>A c.(3061-3063)GAT>AAT p.D1021N SIGLEC1_uc002wjb.1_5'Flank|SIGLEC1_uc002wiz.3_Missense_Mutation_p.D1021N NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 1021 Ig-like C2-type 10.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 ACAAGGCGATCCCCGTGGAGC 0.662 4 11 --- --- --- --- PASS CDC25B 994 broad.mit.edu 37 20 3781422 3781422 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:3781422G>A uc002wjn.2 + 6 1270 c.492G>A c.(490-492)CGG>CGA p.R164R CDC25B_uc010zqk.1_Silent_p.R100R|CDC25B_uc010zql.1_Silent_p.R86R|CDC25B_uc010zqm.1_Silent_p.R100R|CDC25B_uc002wjl.2_Silent_p.R52R|CDC25B_uc002wjm.2_Silent_p.R52R|CDC25B_uc002wjo.2_Silent_p.R150R|CDC25B_uc002wjp.2_Intron|CDC25B_uc002wjq.2_Intron|CDC25B_uc010gbc.2_5'Flank NM_021873 NP_068659 P30305 MPIP2_HUMAN cell division cycle 25B isoform 1 164 cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation cytosol|microtubule organizing center|nucleoplasm protein binding|protein tyrosine phosphatase activity lung(3)|ovary(2) 5 CCGTGCTTCGGAACATCACCA 0.667 19 19 --- --- --- --- PASS CHGB 1114 broad.mit.edu 37 20 5903242 5903242 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:5903242A>G uc002wmg.2 + 4 758 c.452A>G c.(451-453)GAA>GGA p.E151G CHGB_uc010zqz.1_5'UTR NM_001819 NP_001810 P05060 SCG1_HUMAN chromogranin B precursor 151 extracellular region hormone activity breast(3)|skin(2)|ovary(1) 6 GTCTCTGAAGAAGTGAAGACA 0.572 24 22 --- --- --- --- PASS CHGB 1114 broad.mit.edu 37 20 5903364 5903364 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:5903364G>A uc002wmg.2 + 4 880 c.574G>A c.(574-576)GGA>AGA p.G192R CHGB_uc010zqz.1_5'UTR NM_001819 NP_001810 P05060 SCG1_HUMAN chromogranin B precursor 192 extracellular region hormone activity breast(3)|skin(2)|ovary(1) 6 TGAAGAGCCAGGAGAGACACA 0.488 30 92 --- --- --- --- PASS CRLS1 54675 broad.mit.edu 37 20 5990442 5990442 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:5990442C>T uc002wmn.3 + 2 482 c.328C>T c.(328-330)CCG>TCG p.P110S CRLS1_uc010gbq.2_RNA|CRLS1_uc010gbr.2_Missense_Mutation_p.P11S|CRLS1_uc010gbs.1_5'UTR NM_019095 NP_061968 Q9UJA2 CRLS1_HUMAN cardiolipin synthase 1 isoform 1 110 Helical; (Potential). phospholipid biosynthetic process integral to membrane|mitochondrial inner membrane phosphotransferase activity, for other substituted phosphate groups 0 ATGGACAATCCCGAATATGTT 0.318 13 36 --- --- --- --- PASS CRLS1 54675 broad.mit.edu 37 20 5990443 5990443 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:5990443C>T uc002wmn.3 + 2 483 c.329C>T c.(328-330)CCG>CTG p.P110L CRLS1_uc010gbq.2_RNA|CRLS1_uc010gbr.2_Missense_Mutation_p.P11L|CRLS1_uc010gbs.1_5'UTR NM_019095 NP_061968 Q9UJA2 CRLS1_HUMAN cardiolipin synthase 1 isoform 1 110 Helical; (Potential). phospholipid biosynthetic process integral to membrane|mitochondrial inner membrane phosphotransferase activity, for other substituted phosphate groups 0 TGGACAATCCCGAATATGTTG 0.318 13 36 --- --- --- --- PASS LRRN4 164312 broad.mit.edu 37 20 6022121 6022121 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:6022121C>A uc002wmo.2 - 5 1994 c.1770G>T c.(1768-1770)GAG>GAT p.E590D NM_152611 NP_689824 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 precursor 590 Extracellular (Potential).|Fibronectin type-III. integral to membrane skin(3) 3 TGTCCGTGGTCTCCGTCACCC 0.711 19 32 --- --- --- --- PASS PLCB1 23236 broad.mit.edu 37 20 8862318 8862318 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:8862318C>T uc002wnb.2 + 32 3476 c.3473C>T c.(3472-3474)CCC>CTC p.P1158L PLCB1_uc002wna.2_3'UTR NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 1158 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 AAAAGACTGCCCCTCGAGATT 0.478 71 159 --- --- --- --- PASS PLCB1 23236 broad.mit.edu 37 20 8862319 8862319 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:8862319C>T uc002wnb.2 + 32 3477 c.3474C>T c.(3472-3474)CCC>CCT p.P1158P PLCB1_uc002wna.2_3'UTR NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 1158 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 AAAGACTGCCCCTCGAGATTT 0.473 72 160 --- --- --- --- PASS PLCB4 5332 broad.mit.edu 37 20 9424652 9424652 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:9424652G>A uc002wnf.2 + 29 2889 c.2753G>A c.(2752-2754)AGG>AAG p.R918K PLCB4_uc010gbw.1_Missense_Mutation_p.R918K|PLCB4_uc010gbx.2_Missense_Mutation_p.R930K|PLCB4_uc002wne.2_Missense_Mutation_p.R918K|PLCB4_uc002wnh.2_Missense_Mutation_p.R765K NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 918 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity skin(11)|ovary(3)|pancreas(1) 15 CCTCAAGTAAGGATAGAAGAC 0.299 20 57 --- --- --- --- PASS SEL1L2 80343 broad.mit.edu 37 20 13846116 13846116 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:13846116G>A uc010gcf.2 - 16 1531 c.1449C>T c.(1447-1449)TTC>TTT p.F483F SEL1L2_uc002woq.3_Silent_p.F344F|SEL1L2_uc010zrl.1_Intron|SEL1L2_uc002wor.2_Intron NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 483 Extracellular (Potential). integral to membrane binding ovary(2) 2 AAGCTGTCAGGAATTTCTCAG 0.433 30 49 --- --- --- --- PASS CSRP2BP 57325 broad.mit.edu 37 20 18123429 18123429 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:18123429C>T uc002wqj.2 + 2 747 c.125C>T c.(124-126)TCC>TTC p.S42F CSRP2BP_uc002wqk.2_5'Flank NM_020536 NP_065397 Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 42 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity lung(3)|ovary(2)|skin(1) 6 ATCGTCGAATCCGAGGATCAG 0.547 28 41 --- --- --- --- PASS CSRP2BP 57325 broad.mit.edu 37 20 18123430 18123430 + Silent SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:18123430C>A uc002wqj.2 + 2 748 c.126C>A c.(124-126)TCC>TCA p.S42S CSRP2BP_uc002wqk.2_5'Flank NM_020536 NP_065397 Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 42 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity lung(3)|ovary(2)|skin(1) 6 TCGTCGAATCCGAGGATCAGG 0.547 28 42 --- --- --- --- PASS SEC23B 10483 broad.mit.edu 37 20 18505185 18505185 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:18505185C>T uc002wqz.1 + 5 918 c.475C>T c.(475-477)CCT>TCT p.P159S SEC23B_uc002wra.1_Missense_Mutation_p.P159S|SEC23B_uc002wrb.1_Missense_Mutation_p.P159S|SEC23B_uc010zsb.1_Missense_Mutation_p.P141S|SEC23B_uc002wrc.1_Missense_Mutation_p.P159S NM_006363 NP_006354 Q15437 SC23B_HUMAN Sec23 homolog B 159 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding ovary(1) 1 GAGTCTTCTTCCTCCAGATGC 0.493 37 56 --- --- --- --- PASS C20orf79 140856 broad.mit.edu 37 20 18794465 18794465 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:18794465G>A uc002wrk.2 + 1 96 c.6G>A c.(4-6)TGG>TGA p.W2* uc002wrj.1_Intron NM_178483 NP_848578 Q9UJQ7 CT079_HUMAN hypothetical protein LOC140856 2 sterol binding skin(3) 3 GGAAGATGTGGAAGAGAAGTG 0.512 27 51 --- --- --- --- PASS C20orf26 26074 broad.mit.edu 37 20 20071504 20071504 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:20071504G>A uc002wru.2 + 7 659 c.583G>A c.(583-585)GAT>AAT p.D195N C20orf26_uc010gcw.1_Missense_Mutation_p.D149N|C20orf26_uc010zse.1_Missense_Mutation_p.D195N|C20orf26_uc010zsf.1_Missense_Mutation_p.D195N NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 195 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) AGACCATGACGATCTCATGCC 0.333 42 91 --- --- --- --- PASS RALGAPA2 57186 broad.mit.edu 37 20 20571878 20571878 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:20571878G>A uc002wrz.2 - 17 2427 c.2284C>T c.(2284-2286)CTT>TTT p.L762F RALGAPA2_uc010gcx.2_Missense_Mutation_p.L466F|RALGAPA2_uc010zsg.1_Missense_Mutation_p.L210F NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 762 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 CTGCTCCGAAGGACCTGCTGC 0.507 13 27 --- --- --- --- PASS XRN2 22803 broad.mit.edu 37 20 21349207 21349207 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:21349207C>T uc002wsf.1 + 27 2658 c.2563C>T c.(2563-2565)CAG>TAG p.Q855* XRN2_uc002wsg.1_Nonsense_Mutation_p.Q779*|XRN2_uc010zsk.1_Nonsense_Mutation_p.Q801* NM_012255 NP_036387 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 855 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding skin(1) 1 AGGACAAGCCCAGATTCCAAA 0.398 30 62 --- --- --- --- PASS CST8 10047 broad.mit.edu 37 20 23472424 23472424 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:23472424C>T uc002wth.1 + 2 477 c.120C>T c.(118-120)GCC>GCT p.A40A NM_005492 NP_005483 O60676 CST8_HUMAN cystatin 8 precursor 40 extracellular region cysteine-type endopeptidase inhibitor activity 0 Colorectal(13;0.0431)|Lung NSC(19;0.235) CCGTCAATGCCTCAAATGCCA 0.502 45 119 --- --- --- --- PASS CST8 10047 broad.mit.edu 37 20 23472433 23472433 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:23472433C>T uc002wth.1 + 2 486 c.129C>T c.(127-129)GCC>GCT p.A43A NM_005492 NP_005483 O60676 CST8_HUMAN cystatin 8 precursor 43 extracellular region cysteine-type endopeptidase inhibitor activity 0 Colorectal(13;0.0431)|Lung NSC(19;0.235) CCTCAAATGCCAACGTGAAGC 0.507 48 128 --- --- --- --- PASS CST4 1472 broad.mit.edu 37 20 23666597 23666597 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:23666597G>A uc002wto.1 - 3 416 c.360C>T c.(358-360)TTC>TTT p.F120F NM_001899 NP_001890 P01036 CYTS_HUMAN cystatin S precursor 120 extracellular region cysteine-type endopeptidase inhibitor activity breast(1) 1 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) CGTAGATCTCGAAAGAGCACA 0.537 15 24 --- --- --- --- PASS CST5 1473 broad.mit.edu 37 20 23856875 23856875 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:23856875G>A uc002wtr.1 - 3 446 c.379C>T c.(379-381)CCC>TCC p.P127S NM_001900 NP_001891 P28325 CYTD_HUMAN cystatin D precursor 127 extracellular region cysteine-type endopeptidase inhibitor activity|protein binding 0 TCCTCCCAGGGAACTTCATTG 0.478 18 44 --- --- --- --- PASS C20orf3 57136 broad.mit.edu 37 20 24952185 24952185 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:24952185C>T uc002wty.2 - 5 550 c.449G>A c.(448-450)GGG>GAG p.G150E C20orf3_uc002wtz.2_Missense_Mutation_p.G150E|C20orf3_uc010zsw.1_Missense_Mutation_p.G150E NM_020531 NP_065392 Q9HDC9 APMAP_HUMAN chromosome 20 open reading frame 3 150 Extracellular (Potential). biosynthetic process cell surface|integral to membrane arylesterase activity|strictosidine synthase activity ovary(1) 1 CAGGGGTCTCCCACACACAGG 0.493 33 63 --- --- --- --- PASS ENTPD6 955 broad.mit.edu 37 20 25198193 25198193 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:25198193G>A uc002wuj.2 + 9 1034 c.854G>A c.(853-855)AGG>AAG p.R285K ENTPD6_uc010zsy.1_Missense_Mutation_p.R285K|ENTPD6_uc010gdj.1_Missense_Mutation_p.R257K|ENTPD6_uc010zsz.1_Missense_Mutation_p.R67K|ENTPD6_uc002wum.2_Missense_Mutation_p.R268K|ENTPD6_uc010zta.1_Missense_Mutation_p.R285K|ENTPD6_uc002wun.2_Missense_Mutation_p.R285K|ENTPD6_uc002wuk.2_Missense_Mutation_p.R284K|ENTPD6_uc002wul.2_Missense_Mutation_p.R284K|ENTPD6_uc010ztb.1_Missense_Mutation_p.R257K|ENTPD6_uc010ztc.1_Missense_Mutation_p.R257K|ENTPD6_uc002wuo.2_Missense_Mutation_p.R37K|ENTPD6_uc010ztd.1_Missense_Mutation_p.R67K NM_001247 NP_001238 O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 285 Lumenal (Potential). Golgi membrane|integral to membrane nucleoside-diphosphatase activity 0 ATGTTTAACAGGACCTACAAG 0.597 21 37 --- --- --- --- PASS ENTPD6 955 broad.mit.edu 37 20 25198194 25198194 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:25198194G>A uc002wuj.2 + 9 1035 c.855G>A c.(853-855)AGG>AGA p.R285R ENTPD6_uc010zsy.1_Silent_p.R285R|ENTPD6_uc010gdj.1_Silent_p.R257R|ENTPD6_uc010zsz.1_Silent_p.R67R|ENTPD6_uc002wum.2_Silent_p.R268R|ENTPD6_uc010zta.1_Silent_p.R285R|ENTPD6_uc002wun.2_Silent_p.R285R|ENTPD6_uc002wuk.2_Silent_p.R284R|ENTPD6_uc002wul.2_Silent_p.R284R|ENTPD6_uc010ztb.1_Silent_p.R257R|ENTPD6_uc010ztc.1_Silent_p.R257R|ENTPD6_uc002wuo.2_Silent_p.R37R|ENTPD6_uc010ztd.1_Silent_p.R67R NM_001247 NP_001238 O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 285 Lumenal (Potential). Golgi membrane|integral to membrane nucleoside-diphosphatase activity 0 TGTTTAACAGGACCTACAAGC 0.597 22 36 --- --- --- --- PASS DEFB116 245930 broad.mit.edu 37 20 29891155 29891155 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:29891155G>A uc010ztm.1 - 2 169 c.169C>T c.(169-171)CAA>TAA p.Q57* NM_001037731 NP_001032820 Q30KQ4 DB116_HUMAN beta-defensin 116 precursor 57 defense response to bacterium extracellular region 0 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) GTTAAGTATTGGATTTCATAT 0.438 76 145 --- --- --- --- PASS DEFB119 245932 broad.mit.edu 37 20 29965061 29965061 + Silent SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:29965061T>A uc002wvt.2 - 2 363 c.243A>T c.(241-243)CCA>CCT p.P81P DEFB119_uc002wvs.2_3'UTR NM_153289 NP_695021 Q8N690 DB119_HUMAN defensin, beta 119 isoform a precursor 81 defense response to bacterium extracellular region 0 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) AAGGTAGTCTTGGCCACTGCT 0.483 36 59 --- --- --- --- PASS REM1 28954 broad.mit.edu 37 20 30070255 30070255 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:30070255G>A uc002wwa.2 + 4 873 c.589G>A c.(589-591)GCA>ACA p.A197T NM_014012 NP_054731 O75628 REM1_HUMAN RAS-like GTP-binding protein REM 197 GTP (By similarity). small GTPase mediated signal transduction membrane calmodulin binding|GTP binding|GTPase activity lung(2)|pancreas(2) 4 all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) GGGCAACAAGGCAGACTTGGC 0.632 8 39 --- --- --- --- PASS DUSP15 128853 broad.mit.edu 37 20 30450427 30450427 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:30450427T>C uc002wwu.1 - 6 450 c.373A>G c.(373-375)AAC>GAC p.N125D DUSP15_uc002wwv.1_Missense_Mutation_p.N25D|DUSP15_uc002www.1_Missense_Mutation_p.N25D|DUSP15_uc002wwx.1_Missense_Mutation_p.N128D Q9H1R2 DUS15_HUMAN RecName: Full=Dual specificity protein phosphatase 15; EC=3.1.3.48; EC=3.1.3.16; AltName: Full=Vaccinia virus VH1-related dual-specific protein phosphatase Y; AltName: Full=VH1-related member Y; 125 Tyrosine-protein phosphatase. cytoplasm|plasma membrane protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity pancreas(1) 1 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AAGCCTGGGTTGGGGTTGGCG 0.612 20 60 --- --- --- --- PASS XKR7 343702 broad.mit.edu 37 20 30584351 30584351 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:30584351G>A uc002wxe.2 + 3 1005 c.831G>A c.(829-831)CTG>CTA p.L277L NM_001011718 NP_001011718 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related 277 Helical; (Potential). integral to membrane ovary(1)|breast(1)|skin(1) 3 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CCTGGACGCTGGCCTCCTACC 0.697 9 10 --- --- --- --- PASS XKR7 343702 broad.mit.edu 37 20 30584352 30584352 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:30584352G>A uc002wxe.2 + 3 1006 c.832G>A c.(832-834)GCC>ACC p.A278T NM_001011718 NP_001011718 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related 278 Helical; (Potential). integral to membrane ovary(1)|breast(1)|skin(1) 3 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CTGGACGCTGGCCTCCTACCA 0.697 10 10 --- --- --- --- PASS ASXL1 171023 broad.mit.edu 37 20 31021323 31021323 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:31021323C>T uc002wxs.2 + 11 1748 c.1322C>T c.(1321-1323)TCT>TTT p.S441F ASXL1_uc010geb.2_Missense_Mutation_p.S332F NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 441 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 GATGCAAAATCTGTGGCCTCA 0.537 F|N|Mis MDS|CMML 53 78 --- --- --- --- PASS ASXL1 171023 broad.mit.edu 37 20 31023865 31023865 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:31023865C>T uc002wxs.2 + 12 3776 c.3350C>T c.(3349-3351)CCC>CTC p.P1117L ASXL1_uc010geb.2_Missense_Mutation_p.P1008L NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 1117 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 GGTAGCTTGCCCCTAGAGAAG 0.557 F|N|Mis MDS|CMML 18 36 --- --- --- --- PASS ASXL1 171023 broad.mit.edu 37 20 31023866 31023866 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:31023866C>T uc002wxs.2 + 12 3777 c.3351C>T c.(3349-3351)CCC>CCT p.P1117P ASXL1_uc010geb.2_Silent_p.P1008P NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 1117 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 GTAGCTTGCCCCTAGAGAAGG 0.557 F|N|Mis MDS|CMML 18 38 --- --- --- --- PASS C20orf185 359710 broad.mit.edu 37 20 31659915 31659915 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:31659915G>A uc002wym.1 + 13 1266 c.1266G>A c.(1264-1266)TCG>TCA p.S422S NM_182658 NP_872599 P59826 LPLC3_HUMAN antimicrobial peptide RYA3 precursor 422 innate immune response cytoplasm|extracellular region lipid binding|protein binding ovary(4) 4 TGCAGGGATCGCGTTTAGAAG 0.567 19 24 --- --- --- --- PASS C20orf70 140683 broad.mit.edu 37 20 31757060 31757060 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:31757060G>A uc002wyo.1 + 2 180 c.109G>A c.(109-111)GAA>AAA p.E37K NM_080574 NP_542141 Q96DR5 SPLC2_HUMAN chromosome 20 open reading frame 70 precursor 37 extracellular region lipid binding ovary(1)|central_nervous_system(1) 2 GGATAAGCTGGAACCTGTTCT 0.458 27 53 --- --- --- --- PASS C20orf70 140683 broad.mit.edu 37 20 31763316 31763316 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:31763316G>A uc002wyo.1 + 5 585 c.514G>A c.(514-516)GGA>AGA p.G172R NM_080574 NP_542141 Q96DR5 SPLC2_HUMAN chromosome 20 open reading frame 70 precursor 172 G -> R (in Ref. 1; AAL28113). extracellular region lipid binding ovary(1)|central_nervous_system(1) 2 TGCCGTCCTGGGAGAATGCGC 0.527 58 90 --- --- --- --- PASS ZNF341 84905 broad.mit.edu 37 20 32340998 32340998 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:32340998C>T uc002wzy.2 + 5 530 c.510C>T c.(508-510)TCC>TCT p.S170S ZNF341_uc002wzx.2_Silent_p.S170S|ZNF341_uc010geq.2_Silent_p.S80S|ZNF341_uc010ger.2_RNA NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN zinc finger protein 341 170 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 ACATGCATTCCGTGCCCAGCT 0.289 21 50 --- --- --- --- PASS ITCH 83737 broad.mit.edu 37 20 33067442 33067442 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:33067442T>A uc010geu.1 + 19 1981 c.1789T>A c.(1789-1791)TTC>ATC p.F597I ITCH_uc002xak.2_Missense_Mutation_p.F556I|ITCH_uc010zuj.1_Missense_Mutation_p.F446I NM_031483 NP_113671 Q96J02 ITCH_HUMAN itchy homolog E3 ubiquitin protein ligase 597 HECT. apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity breast(4)|lung(1)|central_nervous_system(1) 6 CAGAGAATGGTTCTTTCTTTT 0.368 23 29 --- --- --- --- PASS NCOA6 23054 broad.mit.edu 37 20 33330887 33330887 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:33330887C>T uc002xav.2 - 12 5744 c.3173G>A c.(3172-3174)AGG>AAG p.R1058K NCOA6_uc002xaw.2_Missense_Mutation_p.R1058K NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1058 NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 CAGGGGGCCCCTTGGAGGATG 0.483 48 55 --- --- --- --- PASS GGT7 2686 broad.mit.edu 37 20 33449261 33449261 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:33449261G>A uc002xay.2 - 4 705 c.662C>T c.(661-663)TCC>TTC p.S221F GGT7_uc002xaz.1_Missense_Mutation_p.S238F|GGT7_uc002xba.1_Missense_Mutation_p.S221F NM_178026 NP_821158 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 221 Extracellular (Potential). glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity ovary(1) 1 GGTCTCCCAGGATCTTTGCAG 0.527 13 35 --- --- --- --- PASS MYH7B 57644 broad.mit.edu 37 20 33575706 33575706 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:33575706G>A uc002xbi.1 + 16 1623 c.1531G>A c.(1531-1533)GAG>AAG p.E511K MIR499_hsa-mir-499|MI0003183_5'Flank NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 469 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) CGCTGGGTTTGAGATCTTTGA 0.602 34 54 --- --- --- --- PASS FAM83C 128876 broad.mit.edu 37 20 33875038 33875038 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:33875038G>A uc010zux.1 - 4 1662 c.1544C>T c.(1543-1545)CCC>CTC p.P515L EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.P170L NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN hypothetical protein LOC128876 515 ovary(2) 2 BRCA - Breast invasive adenocarcinoma(18;0.00252) TCGGGCTCTGGGGAAGGGGAC 0.632 18 30 --- --- --- --- PASS GDF5 8200 broad.mit.edu 37 20 34025560 34025560 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:34025560C>T uc002xck.1 - 1 468 c.149G>A c.(148-150)AGG>AAG p.R50K GDF5_uc010gfc.1_Missense_Mutation_p.R50K|GDF5_uc010zvc.1_Missense_Mutation_p.R50K NM_000557 NP_000548 P43026 GDF5_HUMAN growth differentiation factor 5 preproprotein 50 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity 0 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) CAGGGGGGGCCTCTCCTTGGC 0.652 8 8 --- --- --- --- PASS CPNE1 8904 broad.mit.edu 37 20 34219078 34219078 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:34219078G>A uc002xdf.2 - 12 1182 c.819C>T c.(817-819)TCC>TCT p.S273S CPNE1_uc002xdc.2_5'UTR|CPNE1_uc010zvj.1_Silent_p.S278S|CPNE1_uc002xde.2_Silent_p.S249S|CPNE1_uc002xdg.2_Silent_p.S273S|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Silent_p.S273S|CPNE1_uc002xdi.2_Silent_p.S273S|CPNE1_uc002xdj.2_Silent_p.S273S|CPNE1_uc002xdk.2_Silent_p.S273S|CPNE1_uc002xdl.2_Silent_p.S273S|CPNE1_uc002xdm.2_Silent_p.S273S|CPNE1_uc010gfk.1_Silent_p.S273S NM_152931 NP_690908 Q99829 CPNE1_HUMAN copine I isoform a 273 lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity upper_aerodigestive_tract(1) 1 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) AGTCCAGAAAGGAGTACTCTG 0.502 85 132 --- --- --- --- PASS DLGAP4 22839 broad.mit.edu 37 20 35060414 35060414 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:35060414C>T uc002xff.2 + 3 729 c.294C>T c.(292-294)AAC>AAT p.N98N DLGAP4_uc010zvp.1_Silent_p.N98N NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 98 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CCAAGATCAACCGGCTGCCCG 0.642 9 20 --- --- --- --- PASS C20orf117 140710 broad.mit.edu 37 20 35437024 35437024 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:35437024G>A uc002xgd.1 - 8 2319 c.1992C>T c.(1990-1992)TCC>TCT p.S664S C20orf117_uc002xge.1_RNA NM_199181 NP_954650 O94964 K0889_HUMAN hypothetical protein LOC140710 isoform 2 664 0 Myeloproliferative disorder(115;0.00874) TGAATTGCTGGGACTCCTGCA 0.582 OREG0025909 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 12 --- --- --- --- PASS KIAA1755 85449 broad.mit.edu 37 20 36856635 36856635 + Missense_Mutation SNP C G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:36856635C>G uc002xhy.1 - 6 2151 c.1879G>C c.(1879-1881)GAT>CAT p.D627H KIAA1755_uc002xhz.1_Missense_Mutation_p.D627H NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN hypothetical protein LOC85449 627 ovary(4)|pancreas(1) 5 Myeloproliferative disorder(115;0.00874) TTGGCTTTATCTTCAGGCCTG 0.617 8 6 --- --- --- --- PASS RALGAPB 57148 broad.mit.edu 37 20 37121775 37121775 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:37121775G>A uc002xiw.2 + 3 646 c.389G>A c.(388-390)AGA>AAA p.R130K RALGAPB_uc010zvz.1_Missense_Mutation_p.R130K|RALGAPB_uc002xix.2_Missense_Mutation_p.R130K|RALGAPB_uc002xiy.1_Missense_Mutation_p.R130K|RALGAPB_uc002xiz.2_5'UTR NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 130 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 TTTGTACCAAGGTAAGCTATA 0.338 7 21 --- --- --- --- PASS CHD6 84181 broad.mit.edu 37 20 40052232 40052232 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:40052232G>A uc002xka.1 - 30 4633 c.4455C>T c.(4453-4455)TCC>TCT p.S1485S NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1485 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) TGTCCAAACGGGAAATGATGC 0.448 72 137 --- --- --- --- PASS PTPRT 11122 broad.mit.edu 37 20 41419926 41419926 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:41419926C>T uc002xkg.2 - 3 579 c.395G>A c.(394-396)GGG>GAG p.G132E PTPRT_uc010ggj.2_Missense_Mutation_p.G132E NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 132 Extracellular (Potential).|MAM. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CACAGGGTTCCCTTGGGGGCC 0.572 39 92 --- --- --- --- PASS GDAP1L1 78997 broad.mit.edu 37 20 42885898 42885898 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:42885898G>A uc002xlq.2 + 2 353 c.286G>A c.(286-288)GAG>AAG p.E96K GDAP1L1_uc002xlp.1_Missense_Mutation_p.E96K|GDAP1L1_uc010zwl.1_Missense_Mutation_p.E96K|GDAP1L1_uc010zwm.1_Missense_Mutation_p.E96K|GDAP1L1_uc010zwn.1_Intron NM_024034 NP_076939 Q96MZ0 GD1L1_HUMAN ganglioside-induced differentiation-associated 96 GST N-terminal. large_intestine(1) 1 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CAACCTGGGCGAGGAGGTGCC 0.612 11 12 --- --- --- --- PASS GDAP1L1 78997 broad.mit.edu 37 20 42907844 42907844 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:42907844G>A uc002xlq.2 + 6 1075 c.1008G>A c.(1006-1008)AGG>AGA p.R336R GDAP1L1_uc010zwl.1_Silent_p.R355R|GDAP1L1_uc010zwm.1_Silent_p.R278R|GDAP1L1_uc010zwn.1_Silent_p.R144R NM_024034 NP_076939 Q96MZ0 GD1L1_HUMAN ganglioside-induced differentiation-associated 336 GST C-terminal. large_intestine(1) 1 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TGGTCAAGAGGAAACCCCCAT 0.577 31 66 --- --- --- --- PASS SEMG1 6406 broad.mit.edu 37 20 43836056 43836056 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:43836056C>T uc002xni.2 + 2 175 c.118C>T c.(118-120)CCA>TCA p.P40S SEMG1_uc002xnj.2_Missense_Mutation_p.P40S|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.P40S NM_003007 NP_002998 P04279 SEMG1_HUMAN semenogelin I preproprotein 40 insemination|sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(2) 2 Myeloproliferative disorder(115;0.0122) TTCCCAATTTCCACACGGACA 0.393 34 85 --- --- --- --- PASS WFDC11 259239 broad.mit.edu 37 20 44277967 44277967 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:44277967C>T uc002xpa.2 - 4 367 c.172G>A c.(172-174)GCC>ACC p.A58T NM_147197 NP_671730 Q8NEX6 WFD11_HUMAN WAP four-disulfide core domain 11 precursor 58 extracellular region 0 Myeloproliferative disorder(115;0.0122) CATCTAAAGGCTTTAGAACAC 0.398 40 73 --- --- --- --- PASS ACOT8 10005 broad.mit.edu 37 20 44472967 44472967 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:44472967G>A uc002xqa.1 - 4 662 c.581C>T c.(580-582)CCC>CTC p.P194L ACOT8_uc010zxe.1_Missense_Mutation_p.P194L|ACOT8_uc002xqc.1_Missense_Mutation_p.P141L|ACOT8_uc010zxf.1_Missense_Mutation_p.P74L NM_005469 NP_005460 O14734 ACOT8_HUMAN peroxisomal acyl-CoA thioesterase 1 isoform a 194 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization peroxisomal matrix acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding skin(1) 1 Myeloproliferative disorder(115;0.0122) CTGGCTCAGGGGGGATGGGTT 0.547 9 30 --- --- --- --- PASS ZSWIM3 140831 broad.mit.edu 37 20 44506190 44506190 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:44506190G>A uc002xqd.2 + 2 1196 c.993G>A c.(991-993)ATG>ATA p.M331I ZSWIM3_uc010zxg.1_Missense_Mutation_p.M325I NM_080752 NP_542790 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM domain containing 3 331 zinc ion binding ovary(2) 2 Myeloproliferative disorder(115;0.0122) AAAGGCTCATGAAGGAAGCCC 0.512 16 45 --- --- --- --- PASS ZNF334 55713 broad.mit.edu 37 20 45133369 45133369 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:45133369G>A uc002xsc.2 - 3 216 c.32C>T c.(31-33)TCA>TTA p.S11L ZNF334_uc002xsa.2_Silent_p.F16F|ZNF334_uc002xsb.2_5'UTR|ZNF334_uc002xsd.2_5'UTR|ZNF334_uc010ghl.2_Missense_Mutation_p.S10L NM_018102 NP_060572 Q9HCZ1 ZN334_HUMAN zinc finger protein 334 isoform a 11 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) GTCCTGGAATGAAACTGGTAT 0.443 29 45 --- --- --- --- PASS EYA2 2139 broad.mit.edu 37 20 45633653 45633653 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:45633653G>A uc002xsm.2 + 4 602 c.228G>A c.(226-228)GCG>GCA p.A76A EYA2_uc010ghp.2_Silent_p.A76A|EYA2_uc002xsn.2_Silent_p.A81A|EYA2_uc002xso.2_Silent_p.A76A|EYA2_uc002xsp.2_Silent_p.A76A|EYA2_uc002xsq.2_Silent_p.A76A NM_005244 NP_005235 O00167 EYA2_HUMAN eyes absent 2 isoform a 76 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity ovary(1) 1 Myeloproliferative disorder(115;0.0241) AGTACAGTGCGGGGATCCAGC 0.552 19 30 --- --- --- --- PASS CSE1L 1434 broad.mit.edu 37 20 47710733 47710733 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:47710733G>A uc002xty.2 + 23 2638 c.2504G>A c.(2503-2505)GGA>GAA p.G835E CSE1L_uc010zyg.1_Missense_Mutation_p.G618E|CSE1L_uc010ghx.2_Missense_Mutation_p.G779E|CSE1L_uc010ghy.2_Missense_Mutation_p.G456E|CSE1L_uc010zyh.1_Missense_Mutation_p.G484E NM_001316 NP_001307 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like protein 835 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity large_intestine(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) AAGGTATCTGGAAATGTAGAG 0.318 18 42 --- --- --- --- PASS SLC9A8 23315 broad.mit.edu 37 20 48497523 48497523 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:48497523C>T uc002xuv.1 + 13 1431 c.1221C>T c.(1219-1221)TTC>TTT p.F407F SLC9A8_uc010zym.1_Silent_p.F107F|SLC9A8_uc010gic.2_Silent_p.F107F|SLC9A8_uc010gid.2_Silent_p.F31F NM_015266 NP_056081 Q9Y2E8 SL9A8_HUMAN sodium/hydrogen exchanger 8 407 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) TGAATTTCTTCCGGGATCATA 0.408 20 38 --- --- --- --- PASS SLC9A8 23315 broad.mit.edu 37 20 48497524 48497524 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:48497524C>T uc002xuv.1 + 13 1432 c.1222C>T c.(1222-1224)CGG>TGG p.R408W SLC9A8_uc010zym.1_Missense_Mutation_p.R108W|SLC9A8_uc010gic.2_Missense_Mutation_p.R108W|SLC9A8_uc010gid.2_Missense_Mutation_p.R32W NM_015266 NP_056081 Q9Y2E8 SL9A8_HUMAN sodium/hydrogen exchanger 8 408 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) GAATTTCTTCCGGGATCATAA 0.413 19 38 --- --- --- --- PASS FAM65C 140876 broad.mit.edu 37 20 49236648 49236648 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:49236648G>A uc002xvm.2 - 3 450 c.132C>T c.(130-132)TCC>TCT p.S44S FAM65C_uc010zyt.1_Silent_p.S48S|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Silent_p.S44S NM_080829 NP_543019 Q96MK2 FA65C_HUMAN hypothetical protein LOC140876 44 ovary(2) 2 GCGATCTCACGGAGTTCCTGT 0.537 24 60 --- --- --- --- PASS MOCS3 27304 broad.mit.edu 37 20 49576168 49576168 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:49576168C>T uc002xvy.1 + 1 806 c.789C>T c.(787-789)ATC>ATT p.I263I DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank NM_014484 NP_055299 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 263 enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity skin(2)|ovary(1) 3 TGCTGAAAATCGCTGCGGGTC 0.642 15 30 --- --- --- --- PASS SALL4 57167 broad.mit.edu 37 20 50406824 50406824 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:50406824G>A uc002xwh.3 - 2 2299 c.2198C>T c.(2197-2199)CCA>CTA p.P733L SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 733 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CACTTTCCCTGGGGCATCTAA 0.607 9 18 --- --- --- --- PASS SALL4 57167 broad.mit.edu 37 20 50406825 50406825 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:50406825G>A uc002xwh.3 - 2 2298 c.2197C>T c.(2197-2199)CCA>TCA p.P733S SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 733 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 ACTTTCCCTGGGGCATCTAAG 0.607 9 17 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 20 56063462 56063462 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:56063462C>T uc010zzl.1 - 1 622 c.622G>A c.(622-624)GAT>AAT p.D208N NM_001008735 NP_001008735 high-mobility group box 1-like 1 tcatcatcatcatcttcttca 0.194 16 22 --- --- --- --- PASS ZNF831 128611 broad.mit.edu 37 20 57767367 57767367 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:57767367G>A uc002yan.2 + 1 1293 c.1293G>A c.(1291-1293)AAG>AAA p.K431K NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 431 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) GGCCCCGGAAGACCGGGCTGT 0.647 7 6 --- --- --- --- PASS ZNF831 128611 broad.mit.edu 37 20 57768720 57768720 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:57768720C>T uc002yan.2 + 1 2646 c.2646C>T c.(2644-2646)TCC>TCT p.S882S NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 882 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) CTCTGGAGTCCTCTGGAGCCT 0.657 5 10 --- --- --- --- PASS ZNF831 128611 broad.mit.edu 37 20 57769121 57769121 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:57769121G>A uc002yan.2 + 1 3047 c.3047G>A c.(3046-3048)GGG>GAG p.G1016E NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1016 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) CCACAGGATGGGAGAAAAGGG 0.672 10 10 --- --- --- --- PASS SYCP2 10388 broad.mit.edu 37 20 58475292 58475292 + Silent SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:58475292A>G uc002yaz.2 - 17 1444 c.1305T>C c.(1303-1305)GTT>GTC p.V435V SYCP2_uc010gju.1_Silent_p.V336V NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 435 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding ovary(3)|lung(2) 5 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) CCTTTAAACTAACGAGCTCTT 0.343 15 29 --- --- --- --- PASS CDH4 1002 broad.mit.edu 37 20 60470012 60470012 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:60470012G>A uc002ybn.1 + 8 1111 c.1097G>A c.(1096-1098)GGA>GAA p.G366E CDH4_uc002ybp.1_Missense_Mutation_p.G292E NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 366 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GATATGGAAGGAAATCTCAAC 0.473 46 79 --- --- --- --- PASS C20orf166 128826 broad.mit.edu 37 20 61167762 61167762 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:61167762C>T uc011aaj.1 + 4 1011 c.232C>T c.(232-234)CCA>TCA p.P78S NM_178463 NP_848558 Q9H1L0 CT166_HUMAN hypothetical protein LOC128826 78 0 Breast(26;1.04e-08) BRCA - Breast invasive adenocarcinoma(19;7.17e-06) CCACAGTGCTCCAGTGTGTGA 0.522 11 32 --- --- --- --- PASS C20orf20 55257 broad.mit.edu 37 20 61430920 61430920 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:61430920C>T uc002ydi.2 + 5 611 c.540C>T c.(538-540)AGC>AGT p.S180S NM_018270 NP_060740 Q9NV56 MRGBP_HUMAN MRG-binding protein 180 chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent H4/H2A histone acetyltransferase complex 0 Breast(26;3.65e-08) GGAAGCGCAGCCGGGTCACCG 0.587 27 68 --- --- --- --- PASS C20orf20 55257 broad.mit.edu 37 20 61430921 61430921 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:61430921C>T uc002ydi.2 + 5 612 c.541C>T c.(541-543)CGG>TGG p.R181W NM_018270 NP_060740 Q9NV56 MRGBP_HUMAN MRG-binding protein 181 chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent H4/H2A histone acetyltransferase complex 0 Breast(26;3.65e-08) GAAGCGCAGCCGGGTCACCGA 0.582 27 68 --- --- --- --- PASS COL9A3 1299 broad.mit.edu 37 20 61460130 61460130 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:61460130G>A uc002ydm.2 + 18 918 c.915G>A c.(913-915)AAG>AAA p.K305K NM_001853 NP_001844 Q14050 CO9A3_HUMAN alpha 3 type IX collagen precursor 305 Triple-helical region 3 (COL3). axon guidance collagen type IX 0 Breast(26;5.68e-08) TGCCGGGCAAGGACGGCCAGA 0.697 4 12 --- --- --- --- PASS COL9A3 1299 broad.mit.edu 37 20 61467684 61467684 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:61467684C>T uc002ydm.2 + 28 1550 c.1547C>T c.(1546-1548)CCG>CTG p.P516L COL9A3_uc002ydn.2_5'Flank NM_001853 NP_001844 Q14050 CO9A3_HUMAN alpha 3 type IX collagen precursor 516 Triple-helical region 3 (COL3). axon guidance collagen type IX 0 Breast(26;5.68e-08) CCGGGAGTTCCGGTACGTCGC 0.627 10 26 --- --- --- --- PASS CHRNA4 1137 broad.mit.edu 37 20 61981026 61981026 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:61981026C>T uc002yes.2 - 5 1915 c.1737G>A c.(1735-1737)AAG>AAA p.K579K CHRNA4_uc002yet.1_Silent_p.K403K|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.K508K|CHRNA4_uc002yev.1_Silent_p.K403K|CHRNA4_uc010gkf.1_Silent_p.K403K NM_000744 NP_000735 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 subunit 579 Cytoplasmic (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|skin(1) 2 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) TGTCTTCGGCCTTCAGGTGGT 0.657 14 26 --- --- --- --- PASS CHRNA4 1137 broad.mit.edu 37 20 61982311 61982311 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:61982311C>A uc002yes.2 - 5 630 c.452G>T c.(451-453)TGG>TTG p.W151L CHRNA4_uc002yet.1_5'UTR|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.W80L|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR NM_000744 NP_000735 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 subunit 151 Extracellular (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|skin(1) 2 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) CGGGGGAGTCCACTGCACCCG 0.602 14 31 --- --- --- --- PASS PRIC285 85441 broad.mit.edu 37 20 62198494 62198494 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:62198494G>A uc002yfm.2 - 7 3109 c.2217C>T c.(2215-2217)TTC>TTT p.F739F PRIC285_uc002yfl.1_Silent_p.F170F NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 739 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) AGTTCTCGTGGAAGACCAGGC 0.672 17 46 --- --- --- --- PASS RTEL1 51750 broad.mit.edu 37 20 62319071 62319071 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:62319071C>T uc002yfu.1 + 17 1772 c.1429C>T c.(1429-1431)CTT>TTT p.L477F RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Missense_Mutation_p.L477F|RTEL1_uc011abd.1_Missense_Mutation_p.L501F|RTEL1_uc011abe.1_Missense_Mutation_p.L254F|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_5'Flank NM_016434 NP_057518 Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 477 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding 0 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) CTCCCTCATCCTTACCAGCGG 0.677 4 5 --- --- --- --- PASS TPD52L2 7165 broad.mit.edu 37 20 62520563 62520563 + Missense_Mutation SNP C T T rs150777439 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr20:62520563C>T uc002yhc.2 + 6 626 c.497C>T c.(496-498)TCG>TTG p.S166L TPD52L2_uc002ygy.2_Missense_Mutation_p.S189L|TPD52L2_uc002ygz.2_Missense_Mutation_p.S180L|TPD52L2_uc002yha.2_Missense_Mutation_p.S169L|TPD52L2_uc002yhb.2_Missense_Mutation_p.S160L|TPD52L2_uc002yhd.2_Missense_Mutation_p.S146L|TPD52L2_uc011abk.1_Missense_Mutation_p.S117L|TPD52L2_uc011abl.1_Missense_Mutation_p.S123L|TPD52L2_uc002yhe.2_Missense_Mutation_p.S65L NM_003288 NP_003279 O43399 TPD54_HUMAN tumor protein D52-like 2 isoform e 166 regulation of cell proliferation perinuclear region of cytoplasm protein binding|protein homodimerization activity p.S189L(1) ovary(1)|skin(1) 2 all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09) ACCTTCAAGTCGTTTGAGGAC 0.483 5 22 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10908843 10908843 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:10908843G>A uc002yip.1 - 23 1870 c.1502C>T c.(1501-1503)TCT>TTT p.S501F TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.S483F|TPTE_uc002yir.1_Missense_Mutation_p.S463F|TPTE_uc010gkv.1_Missense_Mutation_p.S363F NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 501 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTCAATAAAAGATGTGTGCAA 0.299 8 47 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10914364 10914364 + Missense_Mutation SNP G A A rs147105244 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:10914364G>A uc002yip.1 - 21 1723 c.1355C>T c.(1354-1356)TCG>TTG p.S452L TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.S434L|TPTE_uc002yir.1_Missense_Mutation_p.S414L|TPTE_uc010gkv.1_Missense_Mutation_p.S314L NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 452 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTCTCTTACCGAACATTTTCC 0.323 6 57 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10920086 10920086 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:10920086G>T uc002yip.1 - 19 1536 c.1168C>A c.(1168-1170)CAG>AAG p.Q390K TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.Q372K|TPTE_uc002yir.1_Missense_Mutation_p.Q352K|TPTE_uc010gkv.1_Missense_Mutation_p.Q252K NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 390 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAACTTACCTGAGAAGGAGTT 0.378 11 61 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10941939 10941939 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:10941939C>T uc002yip.1 - 14 1132 c.764G>A c.(763-765)GGA>GAA p.G255E TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.G237E|TPTE_uc002yir.1_Missense_Mutation_p.G217E|TPTE_uc010gkv.1_Missense_Mutation_p.G117E NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 255 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AGACTGCCTTCCAGAAGATGG 0.289 14 182 --- --- --- --- PASS LIPI 149998 broad.mit.edu 37 21 15538721 15538721 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:15538721C>T uc002yjm.2 - 5 768 c.758G>A c.(757-759)GGA>GAA p.G253E LIPI_uc010gkw.1_Intron NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 232 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TTGTTTATTTCCTCCATTTGG 0.343 18 47 --- --- --- --- PASS NRIP1 8204 broad.mit.edu 37 21 16337376 16337376 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:16337376G>A uc002yjx.2 - 4 3736 c.3138C>T c.(3136-3138)ATC>ATT p.I1046I NM_003489 NP_003480 P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 1046 androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity 0 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) CCGCATCAGTGATAACCCACT 0.443 9 34 --- --- --- --- PASS USP25 29761 broad.mit.edu 37 21 17163870 17163870 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:17163870C>T uc002yjy.1 + 5 659 c.442C>T c.(442-444)CCT>TCT p.P148S USP25_uc011aby.1_Missense_Mutation_p.P148S|USP25_uc002yjz.1_Missense_Mutation_p.P148S|USP25_uc010gla.1_Missense_Mutation_p.P148S NM_013396 NP_037528 Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 148 protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3)|liver(2) 5 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) GAAGAGGACACCTACAGAAGT 0.388 25 57 --- --- --- --- PASS CHODL 140578 broad.mit.edu 37 21 19629007 19629007 + Silent SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:19629007G>T uc002ykv.2 + 2 652 c.261G>T c.(259-261)CTG>CTT p.L87L CHODL_uc002ykr.2_Silent_p.L46L|CHODL_uc002yks.2_Silent_p.L46L|CHODL_uc002ykt.2_Silent_p.L46L|CHODL_uc002yku.2_Silent_p.L46L NM_024944 NP_079220 Q9H9P2 CHODL_HUMAN chondrolectin precursor 87 Extracellular (Potential).|C-type lectin. muscle organ development integral to membrane|perinuclear region of cytoplasm sugar binding upper_aerodigestive_tract(1) 1 all_epithelial(11;0.21) Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917) TGCAAAACCTGACAAAACCCG 0.507 26 62 --- --- --- --- PASS TMPRSS15 5651 broad.mit.edu 37 21 19775824 19775824 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:19775824G>A uc002ykw.2 - 1 147 c.116C>T c.(115-117)TCC>TTC p.S39F NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 39 Helical; Signal-anchor for type II membrane protein; (Potential). proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 TGTCAGGCAGGATACTGCAAT 0.448 16 38 --- --- --- --- PASS NCAM2 4685 broad.mit.edu 37 21 22658606 22658606 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:22658606G>A uc002yld.1 + 4 604 c.355G>A c.(355-357)GAA>AAA p.E119K NCAM2_uc011acb.1_Intron|NCAM2_uc011acc.1_Missense_Mutation_p.E144K NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 119 Ig-like C2-type 2.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) CACTTTCAGAGAAGTGGTATC 0.343 7 9 --- --- --- --- PASS KRTAP13-4 284827 broad.mit.edu 37 21 31802915 31802915 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:31802915G>A uc011acw.1 + 1 322 c.322G>A c.(322-324)GGA>AGA p.G108R NM_181600 NP_853631 Q3LI77 KR134_HUMAN keratin associated protein 13-4 108 intermediate filament 0 GCTGGGAAATGGATCCAGTGG 0.532 8 15 --- --- --- --- PASS KRTAP19-3 337970 broad.mit.edu 37 21 31864251 31864251 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:31864251C>T uc002yog.1 - 1 25 c.25G>A c.(25-27)GGA>AGA p.G9R NM_181609 NP_853640 Q7Z4W3 KR193_HUMAN keratin associated protein 19-3 9 intermediate filament 0 CCCAGGCCTCCATAGTAGCTG 0.562 22 60 --- --- --- --- PASS KRTAP6-3 337968 broad.mit.edu 37 21 31964882 31964882 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:31964882G>A uc002yom.2 + 1 124 c.118G>A c.(118-120)GGG>AGG p.G40R NM_181605 NP_853636 keratin associated protein 6-3 0 ctgtggctatgggtgctgtgg 0.124 17 21 --- --- --- --- PASS KRTAP20-2 337976 broad.mit.edu 37 21 32007668 32007668 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:32007668G>A uc011adg.1 + 1 86 c.86G>A c.(85-87)GGC>GAC p.G29D NM_181616 NP_853647 Q3LI61 KR202_HUMAN keratin associated protein 20-2 29 intermediate filament central_nervous_system(1) 1 TGTGGTTATGGCCATGGCTAT 0.552 5 24 --- --- --- --- PASS TIAM1 7074 broad.mit.edu 37 21 32638620 32638620 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:32638620G>A uc002yow.1 - 5 1141 c.669C>T c.(667-669)CTC>CTT p.L223L TIAM1_uc011adk.1_Silent_p.L223L|TIAM1_uc011adl.1_Silent_p.L223L|TIAM1_uc002yox.1_Intron NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 223 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 GACAGGTGCTGAGCTGCCGCG 0.552 18 26 --- --- --- --- PASS SFRS15 57466 broad.mit.edu 37 21 33074193 33074193 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:33074193G>A uc002ypd.2 - 6 922 c.496C>T c.(496-498)CCC>TCC p.P166S SFRS15_uc002ype.2_Missense_Mutation_p.P166S|SFRS15_uc010glu.2_Missense_Mutation_p.P151S|SFRS15_uc002ypf.1_5'UTR|SFRS15_uc002ypg.2_Missense_Mutation_p.P166S NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 166 nucleus nucleotide binding|RNA binding 0 GCTTGTGTGGGAGGTTCAGAA 0.453 9 50 --- --- --- --- PASS HUNK 30811 broad.mit.edu 37 21 33371063 33371063 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:33371063G>A uc002yph.2 + 11 2071 c.1711G>A c.(1711-1713)GTA>ATA p.V571I NM_014586 NP_055401 P57058 HUNK_HUMAN hormonally upregulated Neu-associated kinase 571 multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity stomach(1)|skin(1) 2 CGACGACCACGTAGAAGTGCT 0.612 14 23 --- --- --- --- PASS SYNJ1 8867 broad.mit.edu 37 21 34053869 34053869 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:34053869G>A uc002yqh.2 - 11 1407 c.1407C>T c.(1405-1407)TCC>TCT p.S469S SYNJ1_uc011ads.1_Silent_p.S430S|SYNJ1_uc002yqf.2_Silent_p.S430S|SYNJ1_uc002yqg.2_Silent_p.S430S|SYNJ1_uc002yqi.2_Silent_p.S469S NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a 430 SAC. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding ovary(4)|skin(1) 5 CACCATTCACGGACCACATTG 0.398 18 59 --- --- --- --- PASS SON 6651 broad.mit.edu 37 21 34924260 34924260 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:34924260C>T uc002yse.1 + 3 2772 c.2723C>T c.(2722-2724)TCA>TTA p.S908L SON_uc002ysb.1_Missense_Mutation_p.S908L|SON_uc002ysc.2_Missense_Mutation_p.S908L|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 908 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 ATGTTGGGTTCAAAATCTCCT 0.473 8 24 --- --- --- --- PASS ITSN1 6453 broad.mit.edu 37 21 35208892 35208892 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:35208892C>T uc002yta.1 + 29 3885 c.3617C>T c.(3616-3618)TCC>TTC p.S1206F DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.S1130F|ITSN1_uc010gmg.2_Missense_Mutation_p.S1093F|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.S1206F|ITSN1_uc010gmi.2_Missense_Mutation_p.S1169F|ITSN1_uc010gmj.2_Missense_Mutation_p.S1085F|ITSN1_uc002ysy.2_Missense_Mutation_p.S1201F|ITSN1_uc002ysx.2_Missense_Mutation_p.S1164F|ITSN1_uc002ytb.1_Missense_Mutation_p.S1201F|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.S1098F|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.S1201F|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.S1069F|ITSN1_uc002yti.1_RNA NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 1206 SH3 5. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 CTCTTCCCATCCAATTATGTG 0.532 28 52 --- --- --- --- PASS SLC5A3 6526 broad.mit.edu 37 21 35468224 35468224 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:35468224C>T uc002yto.2 + 2 1239 c.727C>T c.(727-729)CCT>TCT p.P243S MRPS6_uc002ytp.2_Intron NM_006933 NP_008864 P53794 SC5A3_HUMAN solute carrier family 5 (inositol transporters), 243 Cytoplasmic (Potential). integral to plasma membrane myo-inositol:sodium symporter activity ovary(2) 2 TAATGTCTCCCCTAAGAAAGA 0.448 17 67 --- --- --- --- PASS SLC5A3 6526 broad.mit.edu 37 21 35468225 35468225 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:35468225C>T uc002yto.2 + 2 1240 c.728C>T c.(727-729)CCT>CTT p.P243L MRPS6_uc002ytp.2_Intron NM_006933 NP_008864 P53794 SC5A3_HUMAN solute carrier family 5 (inositol transporters), 243 Cytoplasmic (Potential). integral to plasma membrane myo-inositol:sodium symporter activity ovary(2) 2 AATGTCTCCCCTAAGAAAGAA 0.448 17 67 --- --- --- --- PASS CHAF1B 8208 broad.mit.edu 37 21 37788602 37788602 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:37788602C>T uc002yvj.2 + 14 1756 c.1618C>T c.(1618-1620)CCA>TCA p.P540S NM_005441 NP_005432 Q13112 CAF1B_HUMAN chromatin assembly factor 1 subunit B 540 cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding ovary(1)|skin(1) 2 GGGCAGTCCCCCAGAGCTAAA 0.527 8 15 --- --- --- --- PASS DYRK1A 1859 broad.mit.edu 37 21 38858793 38858793 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:38858793G>A uc002ywk.2 + 5 616 c.541G>A c.(541-543)GAG>AAG p.E181K DYRK1A_uc002ywh.1_Missense_Mutation_p.E143K|DYRK1A_uc002ywi.2_Missense_Mutation_p.E181K|DYRK1A_uc002ywj.2_Missense_Mutation_p.E172K|DYRK1A_uc002ywl.2_Missense_Mutation_p.E181K|DYRK1A_uc002ywm.2_Missense_Mutation_p.E181K|DYRK1A_uc011aei.1_5'Flank NM_001396 NP_001387 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 181 Protein kinase. nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity ovary(2)|lung(1)|breast(1) 4 TGATCGTGTGGAGCAAGAATG 0.313 16 35 --- --- --- --- PASS KCNJ6 3763 broad.mit.edu 37 21 39086760 39086760 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:39086760C>T uc011aej.1 - 3 753 c.700G>A c.(700-702)GAG>AAG p.E234K KCNJ6_uc002ywo.2_Missense_Mutation_p.E234K NM_002240 NP_002231 P48051 IRK6_HUMAN potassium inwardly-rectifying channel J6 234 Cytoplasmic (By similarity). synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 Halothane(DB01159) ATGGAAGCCTCCACAATGTGG 0.527 14 35 --- --- --- --- PASS DSCAM 1826 broad.mit.edu 37 21 41450784 41450784 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:41450784C>T uc002yyq.1 - 26 4993 c.4541G>A c.(4540-4542)AGG>AAG p.R1514K DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1514 Extracellular (Potential).|Fibronectin type-III 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CCCAAAGGGCCTGTACTCTAG 0.562 9 17 --- --- --- --- PASS DSCAM 1826 broad.mit.edu 37 21 41710112 41710112 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:41710112C>T uc002yyq.1 - 8 2151 c.1699G>A c.(1699-1701)GAA>AAA p.E567K DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 567 Extracellular (Potential).|Ig-like C2-type 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TCGTCCACTTCCTTTTGCACA 0.493 19 45 --- --- --- --- PASS DSCAM 1826 broad.mit.edu 37 21 41710113 41710113 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:41710113C>T uc002yyq.1 - 8 2150 c.1698G>A c.(1696-1698)AAG>AAA p.K566K DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 566 Extracellular (Potential).|Ig-like C2-type 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CGTCCACTTCCTTTTGCACAT 0.488 18 47 --- --- --- --- PASS TMPRSS2 7113 broad.mit.edu 37 21 42843869 42843869 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:42843869C>T uc002yzj.2 - 10 1073 c.939G>A c.(937-939)GGG>GGA p.G313G TMPRSS2_uc010gor.2_Silent_p.G350G|TMPRSS2_uc010gos.1_Silent_p.G313G NM_005656 NP_005647 O15393 TMPS2_HUMAN transmembrane protease, serine 2 isoform 2 313 Peptidase S1.|Extracellular (Potential). proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24) prostate(2523)|central_nervous_system(1) 2524 Prostate(19;4.48e-07)|all_epithelial(19;0.031) GTCTCAAAATCCCCGCAAATG 0.428 T ERG|ETV1|ETV4|ETV5 prostate 17 33 --- --- --- --- PASS UMODL1 89766 broad.mit.edu 37 21 43496237 43496237 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:43496237G>A uc002zaf.1 + 2 200 c.200G>A c.(199-201)TGG>TAG p.W67* UMODL1_uc002zad.1_5'UTR|UMODL1_uc002zae.1_5'UTR|UMODL1_uc002zag.1_Nonsense_Mutation_p.W67*|uc002zah.1_RNA NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 67 Extracellular (Potential).|EMI. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 TGGATCCCCTGGAGGCGGTGC 0.597 10 29 --- --- --- --- PASS UMODL1 89766 broad.mit.edu 37 21 43496238 43496238 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:43496238G>A uc002zaf.1 + 2 201 c.201G>A c.(199-201)TGG>TGA p.W67* UMODL1_uc002zad.1_5'UTR|UMODL1_uc002zae.1_5'UTR|UMODL1_uc002zag.1_Nonsense_Mutation_p.W67*|uc002zah.1_RNA NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 67 Extracellular (Potential).|EMI. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 GGATCCCCTGGAGGCGGTGCC 0.602 10 29 --- --- --- --- PASS UMODL1 89766 broad.mit.edu 37 21 43547287 43547287 + Silent SNP G T T rs147967794 by1000genomes TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:43547287G>T uc002zaf.1 + 19 3465 c.3465G>T c.(3463-3465)ACG>ACT p.T1155T UMODL1_uc002zad.1_Silent_p.T1083T|UMODL1_uc002zae.1_Silent_p.T1211T|UMODL1_uc002zag.1_Silent_p.T1283T|UMODL1_uc002zal.1_Silent_p.T105T|UMODL1_uc010gpa.1_5'Flank NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 1155 Extracellular (Potential).|ZP. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 TGGTCCTGACGGAGTGCTGGG 0.567 14 38 --- --- --- --- PASS PDE9A 5152 broad.mit.edu 37 21 44108093 44108093 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:44108093G>A uc002zbm.2 + 3 270 c.207G>A c.(205-207)GCG>GCA p.A69A PDE9A_uc002zbn.2_Intron|PDE9A_uc002zbo.2_Silent_p.A69A|PDE9A_uc002zbp.2_Intron|PDE9A_uc002zbq.2_Missense_Mutation_p.E46K|PDE9A_uc002zbs.2_Intron|PDE9A_uc002zbr.2_Intron|PDE9A_uc002zbt.2_Intron|PDE9A_uc002zbu.2_Silent_p.A28A|PDE9A_uc002zbv.2_Intron|PDE9A_uc002zbw.2_Intron|PDE9A_uc002zbx.2_Silent_p.A69A|PDE9A_uc002zby.2_Intron|PDE9A_uc002zbz.2_5'UTR|PDE9A_uc002zca.2_Silent_p.A28A|PDE9A_uc002zcb.2_Intron|PDE9A_uc002zcc.2_Silent_p.A28A|PDE9A_uc002zcd.2_Intron|PDE9A_uc002zce.2_Intron|PDE9A_uc002zcf.2_5'UTR|PDE9A_uc002zcg.2_Intron NM_002606 NP_002597 O76083 PDE9A_HUMAN phosphodiesterase 9A isoform a 69 platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|skin(1) 2 CCATGCCCGCGAATTCAGAAC 0.582 13 34 --- --- --- --- PASS PDE9A 5152 broad.mit.edu 37 21 44190846 44190846 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:44190846C>A uc002zbm.2 + 18 1687 c.1624C>A c.(1624-1626)CCA>ACA p.P542T PDE9A_uc002zbn.2_Missense_Mutation_p.P415T|PDE9A_uc002zbo.2_Missense_Mutation_p.P489T|PDE9A_uc002zbp.2_Missense_Mutation_p.P335T|PDE9A_uc002zbq.2_Missense_Mutation_p.P440T|PDE9A_uc002zbs.2_Missense_Mutation_p.P335T|PDE9A_uc002zbr.2_Missense_Mutation_p.P335T|PDE9A_uc002zbt.2_Missense_Mutation_p.P414T|PDE9A_uc002zbu.2_Missense_Mutation_p.P408T|PDE9A_uc002zbv.2_Missense_Mutation_p.P382T|PDE9A_uc002zbw.2_Missense_Mutation_p.P325T|PDE9A_uc002zbx.2_Missense_Mutation_p.P482T|PDE9A_uc002zby.2_Missense_Mutation_p.P325T|PDE9A_uc002zbz.2_Missense_Mutation_p.P434T|PDE9A_uc002zca.2_Missense_Mutation_p.P501T|PDE9A_uc002zcb.2_Missense_Mutation_p.P516T|PDE9A_uc002zcc.2_Missense_Mutation_p.P441T|PDE9A_uc002zcd.2_Missense_Mutation_p.P456T|PDE9A_uc002zce.2_Missense_Mutation_p.P475T|PDE9A_uc002zcf.2_Missense_Mutation_p.P335T|PDE9A_uc002zcg.2_Missense_Mutation_p.P335T|PDE9A_uc002zch.2_Missense_Mutation_p.P325T NM_002606 NP_002597 O76083 PDE9A_HUMAN phosphodiesterase 9A isoform a 542 Catalytic (By similarity). platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|skin(1) 2 CATGCTGCAGCCACTTTGGGA 0.517 9 17 --- --- --- --- PASS CBS 875 broad.mit.edu 37 21 44492175 44492175 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:44492175C>T uc002zcu.2 - 3 374 c.129G>A c.(127-129)TGG>TGA p.W43* CBS_uc002zct.2_Nonsense_Mutation_p.W43*|CBS_uc002zcw.3_Nonsense_Mutation_p.W43*|CBS_uc002zcv.2_Nonsense_Mutation_p.W43* NM_000071 NP_000062 P35520 CBS_HUMAN cystathionine-beta-synthase 43 cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process cytosol|nucleolus cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding 0 L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118) CGGGCCGGATCCACAGGGGCT 0.672 13 25 --- --- --- --- PASS PDXK 8566 broad.mit.edu 37 21 45173564 45173564 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:45173564C>T uc002zdm.3 + 9 921 c.723C>T c.(721-723)CTC>CTT p.L241L PDXK_uc010gpj.2_Silent_p.L241L|PDXK_uc002zdn.3_Silent_p.L213L|PDXK_uc002zdq.3_Silent_p.L168L NM_003681 NP_003672 O00764 PDXK_HUMAN pyridoxal kinase 241 cell proliferation|pyridoxal 5'-phosphate salvage cytosol ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding 0 Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18) Pyridoxal(DB00147)|Pyridoxine(DB00165) CTGCCATGCTCCTGGCGTGGA 0.617 17 36 --- --- --- --- PASS C21orf29 54084 broad.mit.edu 37 21 45950965 45950965 + Silent SNP G A A rs150521283 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:45950965G>A uc002zfe.1 - 4 660 c.594C>T c.(592-594)TTC>TTT p.F198F C21orf29_uc010gpv.1_Silent_p.F130F NM_144991 NP_659428 Q8WU66 TSEAR_HUMAN chromosome 21 open reading frame 29 precursor 198 TSP N-terminal. cell adhesion extracellular region structural molecule activity 0 TGCCGACGAAGAATCGAGCTC 0.597 5 17 --- --- --- --- PASS C21orf29 54084 broad.mit.edu 37 21 45953714 45953714 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:45953714G>A uc002zfe.1 - 3 462 c.396C>T c.(394-396)TTC>TTT p.F132F C21orf29_uc010gpv.1_Silent_p.F64F NM_144991 NP_659428 Q8WU66 TSEAR_HUMAN chromosome 21 open reading frame 29 precursor 132 TSP N-terminal. cell adhesion extracellular region structural molecule activity 0 CCTCGCGAAGGAACAGGAAGT 0.677 4 11 --- --- --- --- PASS KRTAP10-12 386685 broad.mit.edu 37 21 46117566 46117566 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:46117566C>T uc002zfw.1 + 1 480 c.450C>T c.(448-450)TCC>TCT p.S150S C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198699 NP_941972 P60413 KR10C_HUMAN keratin associated protein 10-12 150 19 X 5 AA repeats of C-C-X(3). keratin filament 0 GTCAACAGTCCTGCTGTGTGC 0.612 71 122 --- --- --- --- PASS COL6A2 1292 broad.mit.edu 37 21 47546007 47546007 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:47546007G>A uc002zia.1 + 26 2360 c.2278G>A c.(2278-2280)GGG>AGG p.G760R COL6A2_uc002zhy.1_Missense_Mutation_p.G760R|COL6A2_uc002zhz.1_Missense_Mutation_p.G760R|COL6A2_uc002zib.1_Missense_Mutation_p.G166R|COL6A2_uc002zic.1_5'Flank NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 760 VWFA 2.|Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CATCGGCATCGGGGACATGTT 0.627 57 99 --- --- --- --- PASS MCM3AP 8888 broad.mit.edu 37 21 47663398 47663398 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:47663398G>A uc002zir.1 - 24 5313 c.5277C>T c.(5275-5277)CCC>CCT p.P1759P MCM3APAS_uc002zim.2_Intron|MCM3APAS_uc002zin.2_Intron|MCM3AP_uc002zio.1_Silent_p.P254P|MCM3AP_uc002zip.1_Silent_p.P500P|MCM3AP_uc002ziq.1_Silent_p.P686P|MCM3APAS_uc002zis.1_Intron NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 1759 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) CAGGAAGCCGGGGGGGCGTCC 0.532 31 60 --- --- --- --- PASS PCNT 5116 broad.mit.edu 37 21 47769664 47769664 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr21:47769664C>T uc002zji.3 + 8 1381 c.1274C>T c.(1273-1275)TCC>TTC p.S425F PCNT_uc002zjj.2_Missense_Mutation_p.S307F|PCNT_uc010gqk.1_RNA NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 425 Glu-rich.|Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) GACCTGCAGTCCGAGCACGGC 0.468 22 56 --- --- --- --- PASS CCT8L2 150160 broad.mit.edu 37 22 17071927 17071927 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:17071927C>T uc002zlp.1 - 1 1774 c.1514G>A c.(1513-1515)CGA>CAA p.R505Q NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 505 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AGCCACTGCTCGAAATCCTTG 0.507 68 56 --- --- --- --- PASS CCT8L2 150160 broad.mit.edu 37 22 17073174 17073174 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:17073174G>A uc002zlp.1 - 1 527 c.267C>T c.(265-267)CTC>CTT p.L89L NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 89 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CTTCCCGGAGGAGCCATGCTG 0.612 11 40 --- --- --- --- PASS CCT8L2 150160 broad.mit.edu 37 22 17073361 17073361 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:17073361T>C uc002zlp.1 - 1 340 c.80A>G c.(79-81)GAA>GGA p.E27G NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 27 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CTCCTCCTCTTCTGGACTCCT 0.662 28 13 --- --- --- --- PASS XKR3 150165 broad.mit.edu 37 22 17288864 17288864 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:17288864G>A uc002zlv.2 - 2 198 c.100C>T c.(100-102)CCT>TCT p.P34S XKR3_uc011agf.1_Missense_Mutation_p.P34S NM_175878 NP_787074 Q5GH77 XKR3_HUMAN X Kell blood group precursor-related family, 34 integral to membrane|plasma membrane large_intestine(1)|ovary(1)|skin(1) 3 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) ATGCTAAAAGGAAAGCTTAGA 0.388 32 55 --- --- --- --- PASS IL17RA 23765 broad.mit.edu 37 22 17578719 17578719 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:17578719C>T uc002zly.2 + 3 329 c.196C>T c.(196-198)CGA>TGA p.R66* IL17RA_uc010gqt.2_Nonsense_Mutation_p.R66* NM_014339 NP_055154 Q96F46 I17RA_HUMAN interleukin 17A receptor precursor 66 Extracellular (Potential). fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity skin(2) 2 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) GATTCACCCTCGAAACCTGAC 0.577 5 35 --- --- --- --- PASS IL17RA 23765 broad.mit.edu 37 22 17584437 17584437 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:17584437C>T uc002zly.2 + 8 949 c.816C>T c.(814-816)AAC>AAT p.N272N IL17RA_uc010gqt.2_Silent_p.N272N NM_014339 NP_055154 Q96F46 I17RA_HUMAN interleukin 17A receptor precursor 272 Extracellular (Potential). fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity skin(2) 2 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) CTCTACGCAACCTTAAAGGGT 0.557 14 10 --- --- --- --- PASS CECR5 27440 broad.mit.edu 37 22 17619484 17619484 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:17619484C>A uc002zmf.2 - 7 919 c.891G>T c.(889-891)GAG>GAT p.E297D CECR5_uc002zmd.2_Missense_Mutation_p.E108D|CECR5_uc002zme.2_Missense_Mutation_p.E89D|CECR5_uc002zmg.2_Intron|CECR5_uc002zmh.2_Missense_Mutation_p.E267D NM_033070 NP_149061 Q9BXW7 CECR5_HUMAN cat eye syndrome chromosome region, candidate 5 297 E -> G (in Ref. 2; BAA91475). hydrolase activity 0 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) AGCCCCGCCTCTCCGCCTGTC 0.602 25 87 --- --- --- --- PASS BCL2L13 23786 broad.mit.edu 37 22 18178929 18178929 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:18178929C>T uc002zmw.2 + 5 627 c.409C>T c.(409-411)CGG>TGG p.R137W BCL2L13_uc002zmu.2_Missense_Mutation_p.R137W|BCL2L13_uc002zmv.2_Missense_Mutation_p.R137W|BCL2L13_uc002zmx.2_5'UTR|BCL2L13_uc002zmy.2_Intron|BCL2L13_uc010gqy.2_Intron|BCL2L13_uc011agk.1_Intron|BCL2L13_uc010gqz.2_Intron|BCL2L13_uc002zmz.2_Intron NM_015367 NP_056182 Q9BXK5 B2L13_HUMAN BCL2-like 13 (apoptosis facilitator) 137 induction of apoptosis integral to membrane|mitochondrial membrane|nucleus caspase activator activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_epithelial(15;0.123) Lung(27;0.199) TCAGGCATTTCGGGAATGTAC 0.368 28 22 --- --- --- --- PASS MICAL3 57553 broad.mit.edu 37 22 18387540 18387540 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:18387540G>A uc002zng.3 - 3 683 c.330C>T c.(328-330)GCC>GCT p.A110A MICAL3_uc011agl.1_Silent_p.A110A|MICAL3_uc002znh.2_Silent_p.A110A|MICAL3_uc002znj.1_5'Flank|MICAL3_uc002znk.1_Silent_p.A110A|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.2_Silent_p.A110A|MICAL3_uc011agm.1_Silent_p.A110A NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 110 FAD (Potential). cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) CAACCACCTTGGCCCCCAGTA 0.537 49 48 --- --- --- --- PASS TXNRD2 10587 broad.mit.edu 37 22 19903294 19903294 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:19903294C>T uc011ahc.1 - 6 555 c.522G>A c.(520-522)GGG>GGA p.G174G TXNRD2_uc002zql.1_5'UTR|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Silent_p.G173G|TXNRD2_uc010grv.1_Silent_p.G174G|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqs.2_Silent_p.G142G NM_006440 NP_006431 Q9NNW7 TRXR2_HUMAN thioredoxin reductase 2 precursor 174 cell redox homeostasis|response to oxygen radical mitochondrion flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity ovary(2) 2 Colorectal(54;0.0993) TCACCTCTTTCCCACCTTTGG 0.483 18 18 --- --- --- --- PASS ZNF74 7625 broad.mit.edu 37 22 20761087 20761087 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:20761087C>T uc010gsm.2 + 6 1976 c.1764C>T c.(1762-1764)TTC>TTT p.F588F ZNF74_uc002zsg.2_Silent_p.F517F|ZNF74_uc002zsh.2_Silent_p.F588F|ZNF74_uc002zsi.2_Silent_p.F517F|ZNF74_uc010gsn.2_Silent_p.F517F NM_003426 NP_003417 Q16587 ZNF74_HUMAN zinc finger protein 74 588 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding ovary(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) Ccatccagttcaacaaacacc 0.368 22 20 --- --- --- --- PASS SERPIND1 3053 broad.mit.edu 37 22 21133804 21133804 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:21133804C>A uc002ztb.1 + 2 271 c.204C>A c.(202-204)GAC>GAA p.D68E PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Missense_Mutation_p.D96E NM_000185 NP_000176 P05546 HEP2_HUMAN heparin cofactor II precursor 68 Chemotactic activity. blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity 0 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) TCACCAACGACTGGATTCCAG 0.512 7 36 --- --- --- --- PASS SLC7A4 6545 broad.mit.edu 37 22 21385699 21385699 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:21385699G>A uc002zud.2 - 2 471 c.403C>T c.(403-405)CGT>TGT p.R135C SLC7A4_uc002zue.2_Missense_Mutation_p.R135C NM_004173 NP_004164 O43246 CTR4_HUMAN solute carrier family 7 (cationic amino acid 135 cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity ovary(1)|lung(1) 2 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) CTCCAGGCACGGGCCACGGCG 0.602 5 12 --- --- --- --- PASS SLC7A4 6545 broad.mit.edu 37 22 21385700 21385700 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:21385700G>A uc002zud.2 - 2 470 c.402C>T c.(400-402)GCC>GCT p.A134A SLC7A4_uc002zue.2_Silent_p.A134A NM_004173 NP_004164 O43246 CTR4_HUMAN solute carrier family 7 (cationic amino acid 134 cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity ovary(1)|lung(1) 2 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) TCCAGGCACGGGCCACGGCGG 0.607 5 13 --- --- --- --- PASS CCDC116 164592 broad.mit.edu 37 22 21991155 21991155 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:21991155C>T uc002zve.2 + 5 1731 c.1638C>T c.(1636-1638)CTC>CTT p.L546L NM_152612 NP_689825 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ovary(1)|skin(1) 2 Colorectal(54;0.105) GCCGCTCCCTCTACACCAACT 0.647 15 24 --- --- --- --- PASS TOP3B 8940 broad.mit.edu 37 22 22316834 22316834 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:22316834C>T uc002zvs.2 - 13 1927 c.1492G>A c.(1492-1494)GAG>AAG p.E498K TOP3B_uc010gtm.1_Missense_Mutation_p.E43K|TOP3B_uc002zvr.2_Missense_Mutation_p.E223K|TOP3B_uc010gtl.2_Missense_Mutation_p.E498K|TOP3B_uc002zvt.3_Missense_Mutation_p.E498K NM_003935 NP_003926 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 498 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding kidney(1) 1 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) GTGATGAGCTCGGCCTCCGTC 0.642 13 40 --- --- --- --- PASS TOP3B 8940 broad.mit.edu 37 22 22322062 22322062 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:22322062G>A uc002zvs.2 - 8 1200 c.765C>T c.(763-765)CTC>CTT p.L255L TOP3B_uc010gtm.1_5'UTR|TOP3B_uc002zvr.2_5'UTR|TOP3B_uc010gtl.2_Silent_p.L255L|TOP3B_uc002zvt.3_Silent_p.L255L NM_003935 NP_003926 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 255 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding kidney(1) 1 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) AGTCCAAAAGGAGAGATCTGT 0.498 38 42 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 22550592 22550592 + RNA SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:22550592C>T uc011aim.1 + 11 c.1086C>T Parts of antibodies, mostly variable regions. 0 GACAGCTCCTCCAACTCTGCC 0.562 22 34 --- --- --- --- PASS ZNF280A 129025 broad.mit.edu 37 22 22869822 22869822 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:22869822C>T uc002zwe.2 - 2 386 c.133G>A c.(133-135)GAA>AAA p.E45K LOC96610_uc011aim.1_Intron NM_080740 NP_542778 P59817 Z280A_HUMAN zinc finger protein 280A 45 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) AAGAGAACTTCAGCATCTCTA 0.413 45 51 --- --- --- --- PASS PRAME 23532 broad.mit.edu 37 22 22890618 22890618 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:22890618G>A uc002zwf.2 - 5 1557 c.1401C>T c.(1399-1401)CTC>CTT p.L467L LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Silent_p.L451L|PRAME_uc010gtr.2_Silent_p.L467L|PRAME_uc002zwg.2_Silent_p.L467L|PRAME_uc002zwh.2_Silent_p.L467L|PRAME_uc002zwi.2_Silent_p.L467L|PRAME_uc002zwj.2_Silent_p.L467L|PRAME_uc002zwk.2_Silent_p.L467L NM_206956 NP_996839 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 467 Mediates interaction with RARA. apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding central_nervous_system(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) GCAACTCCCTGAGCCTGGCAT 0.592 17 43 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 23040635 23040635 + RNA SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:23040635C>T uc011aim.1 + 137 c.8542C>T Parts of antibodies, mostly variable regions. 0 CAGCCTGCCTCCGTGTCTGGG 0.592 51 142 --- --- --- --- PASS GNAZ 2781 broad.mit.edu 37 22 23438057 23438057 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:23438057G>T uc002zwu.1 + 2 712 c.175G>T c.(175-177)GGC>TGC p.G59C RTDR1_uc002zwt.2_Intron NM_002073 NP_002064 P19086 GNAZ_HUMAN guanine nucleotide binding protein, alpha z 59 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity kidney(1)|skin(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) CATCCACAGCGGCGGCTTCAA 0.602 5 86 --- --- --- --- PASS BCR 613 broad.mit.edu 37 22 23656897 23656897 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:23656897C>T uc002zww.2 + 22 4318 c.3722C>T c.(3721-3723)TCC>TTC p.S1241F BCR_uc002zwx.2_Missense_Mutation_p.S1197F|BCR_uc011aiy.1_Missense_Mutation_p.S830F NM_004327 NP_004318 P11274 BCR_HUMAN breakpoint cluster region isoform 1 1241 Rho-GAP. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1) 12 GAGGTCATGTCCCAGGTATGG 0.627 T ABL1| FGFR1|JAK2 CML|ALL|AML 10 12 --- --- --- --- PASS RGL4 266747 broad.mit.edu 37 22 24034555 24034555 + Silent SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:24034555C>A uc002zxn.2 + 2 1383 c.213C>A c.(211-213)CCC>CCA p.P71P LOC91316_uc002zxh.3_RNA|LOC91316_uc002zxi.3_RNA|LOC91316_uc002zxk.3_Intron|LOC91316_uc010gua.2_Intron|LOC91316_uc002zxl.3_Intron|LOC91316_uc011aiz.1_Intron|LOC91316_uc002zxm.3_Intron|RGL4_uc002zxo.2_Silent_p.P71P|RGL4_uc002zxp.1_5'UTR|RGL4_uc002zxq.2_5'UTR NM_153615 NP_705843 Q8IZJ4 RGDSR_HUMAN ral guanine nucleotide dissociation 71 small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle guanyl-nucleotide exchange factor activity ovary(1) 1 ACTGGCCCCCCGAAAACACTT 0.577 5 155 --- --- --- --- PASS SUSD2 56241 broad.mit.edu 37 22 24580109 24580109 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:24580109C>T uc002zzn.1 + 4 489 c.445C>T c.(445-447)CCC>TCC p.P149S NM_019601 NP_062547 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 precursor 149 Extracellular (Potential). immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CCCAGTGCACCCCAACAAAGT 0.632 39 41 --- --- --- --- PASS ADORA2A 135 broad.mit.edu 37 22 24829655 24829655 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:24829655C>T uc002zzx.2 + 4 1046 c.283C>T c.(283-285)CTC>TTC p.L95F ADORA2A_uc002zzy.3_Missense_Mutation_p.L95F|ADORA2A_uc011ajs.1_Intron|C22orf45_uc003aaa.1_5'Flank|ADORA2A_uc010guo.1_Missense_Mutation_p.S114F|ADORA2A_uc010gup.2_Missense_Mutation_p.L95F|ADORA2A_uc010guq.2_Missense_Mutation_p.L95F|ADORA2A_uc003aab.2_Missense_Mutation_p.L95F|ADORA2A_uc003aac.2_5'UTR NM_000675 NP_000666 P29274 AA2AR_HUMAN adenosine A2a receptor 95 Helical; Name=3. apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception integral to plasma membrane|membrane fraction enzyme binding 0 Colorectal(2;0.196) Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277) CATCTTCAGTCTCCTGGCCAT 0.612 15 15 --- --- --- --- PASS ADORA2A 135 broad.mit.edu 37 22 24837072 24837072 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:24837072C>T uc002zzx.2 + 5 1617 c.854C>T c.(853-855)CCC>CTC p.P285L ADORA2A_uc002zzy.3_Missense_Mutation_p.P285L|ADORA2A_uc011ajs.1_Missense_Mutation_p.P146L|ADORA2A_uc010gup.2_Missense_Mutation_p.P285L|ADORA2A_uc010guq.2_Missense_Mutation_p.P285L|ADORA2A_uc003aab.2_Missense_Mutation_p.P285L|ADORA2A_uc003aac.2_Missense_Mutation_p.P146L|C22orf45_uc003aad.1_Intron NM_000675 NP_000666 P29274 AA2AR_HUMAN adenosine A2a receptor 285 Helical; Name=7. apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception integral to plasma membrane|membrane fraction enzyme binding 0 Colorectal(2;0.196) Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277) GTTGTGAATCCCTTCATCTAC 0.572 9 31 --- --- --- --- PASS SGSM1 129049 broad.mit.edu 37 22 25264494 25264494 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:25264494C>T uc003abg.2 + 11 1303 c.1146C>T c.(1144-1146)TCC>TCT p.S382S SGSM1_uc003abh.2_Silent_p.S382S|SGSM1_uc010guu.1_Silent_p.S382S|SGSM1_uc003abj.2_Silent_p.S382S|SGSM1_uc003abi.1_Silent_p.S357S NM_001039948 NP_001035037 Q2NKQ1 SGSM1_HUMAN RUN and TBC1 domain containing 2 isoform 1 382 Golgi apparatus Rab GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1) 5 CACTGTGGTCCCAGAGGGGTA 0.627 7 31 --- --- --- --- PASS MYO18B 84700 broad.mit.edu 37 22 26164576 26164576 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:26164576G>A uc003abz.1 + 4 943 c.693G>A c.(691-693)CTG>CTA p.L231L MYO18B_uc003aca.1_Silent_p.L112L|MYO18B_uc010guy.1_Silent_p.L112L|MYO18B_uc010guz.1_Silent_p.L112L|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 231 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 CTGTGGCACTGAAAAAAGGCG 0.617 4 13 --- --- --- --- PASS MYO18B 84700 broad.mit.edu 37 22 26166090 26166090 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:26166090G>A uc003abz.1 + 5 1776 c.1526G>A c.(1525-1527)AGA>AAA p.R509K MYO18B_uc003aca.1_Missense_Mutation_p.R390K|MYO18B_uc010guy.1_Missense_Mutation_p.R390K|MYO18B_uc010guz.1_Missense_Mutation_p.R390K|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Missense_Mutation_p.R22K NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 509 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 CCTGAGGACAGATGGTATGAG 0.502 32 41 --- --- --- --- PASS MYO18B 84700 broad.mit.edu 37 22 26422503 26422503 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:26422503G>A uc003abz.1 + 43 6813 c.6563G>A c.(6562-6564)GGA>GAA p.G2188E MYO18B_uc003aca.1_Missense_Mutation_p.G2069E|MYO18B_uc010guy.1_Missense_Mutation_p.G2070E|MYO18B_uc010guz.1_Missense_Mutation_p.G2068E|MYO18B_uc011aka.1_Missense_Mutation_p.G1342E|MYO18B_uc011akb.1_Missense_Mutation_p.G1701E|MYO18B_uc010gva.1_Missense_Mutation_p.G171E|MYO18B_uc010gvb.1_RNA NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2188 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 AAGACCTCAGGAGACAAGCCT 0.557 29 33 --- --- --- --- PASS SEZ6L 23544 broad.mit.edu 37 22 26761418 26761418 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:26761418G>A uc003acb.2 + 13 2836 c.2680G>A c.(2680-2682)GGA>AGA p.G894R SEZ6L_uc003acc.2_Missense_Mutation_p.G894R|SEZ6L_uc011akc.1_Missense_Mutation_p.G894R|SEZ6L_uc003acd.2_Missense_Mutation_p.G830R|SEZ6L_uc011akd.1_Missense_Mutation_p.G894R|SEZ6L_uc003ace.2_Intron|SEZ6L_uc003acf.1_Missense_Mutation_p.G667R|SEZ6L_uc010gvc.1_Intron|SEZ6L_uc011ake.1_RNA NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 894 Sushi 5.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 CTACCTGCCAGGAGAGTCCCT 0.567 9 52 --- --- --- --- PASS CHEK2 11200 broad.mit.edu 37 22 29092948 29092948 + Missense_Mutation SNP G C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:29092948G>C uc003adu.1 - 10 1108 c.1036C>G c.(1036-1038)CGT>GGT p.R346G CHEK2_uc003ads.1_Missense_Mutation_p.R125G|CHEK2_uc010gvh.1_Missense_Mutation_p.R255G|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.R389G|CHEK2_uc003adv.1_Intron|CHEK2_uc003adw.1_Missense_Mutation_p.R346G|CHEK2_uc003adx.1_Missense_Mutation_p.R125G|CHEK2_uc003ady.1_Missense_Mutation_p.R346G|CHEK2_uc003adz.1_Missense_Mutation_p.R150G NM_007194 NP_009125 O96017 CHK2_HUMAN protein kinase CHK2 isoform a 346 Protein kinase. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.R346H(1) central_nervous_system(17)|stomach(1)|ovary(1)|lung(1) 20 TTTAAGTCACGGTGTATAATA 0.383 F breast Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer 5 27 --- --- --- --- PASS ZNRF3 84133 broad.mit.edu 37 22 29445418 29445418 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:29445418C>T uc003aeg.2 + 8 1114 c.949C>T c.(949-951)CGC>TGC p.R317C ZNRF3_uc003aeh.1_Missense_Mutation_p.R317C NM_032173 NP_115549 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 417 Cytoplasmic (Potential). integral to membrane zinc ion binding ovary(1) 1 CGCCTACATCCGCAGCTACCC 0.692 6 3 --- --- --- --- PASS NEFH 4744 broad.mit.edu 37 22 29885616 29885616 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:29885616C>T uc003afo.2 + 4 2058 c.1987C>T c.(1987-1989)CCT>TCT p.P663S NEFH_uc003afp.2_5'UTR NM_021076 NP_066554 P12036 NFH_HUMAN neurofilament, heavy polypeptide 200kDa 669 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.|15. cell death|nervous system development neurofilament 0 GGCCAAGTCCCCTGAGAAGGC 0.572 93 88 --- --- --- --- PASS MTMR3 8897 broad.mit.edu 37 22 30415629 30415629 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:30415629C>T uc003agv.3 + 17 2309 c.1981C>T c.(1981-1983)CTT>TTT p.L661F MTMR3_uc003agu.3_Missense_Mutation_p.L661F|MTMR3_uc003agw.3_Missense_Mutation_p.L661F NM_021090 NP_066576 Q13615 MTMR3_HUMAN myotubularin-related protein 3 isoform c 661 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|ovary(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) AGAGGATCCCCTTTCTGCCGA 0.657 19 38 --- --- --- --- PASS TBC1D10A 83874 broad.mit.edu 37 22 30688370 30688370 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:30688370G>A uc011akt.1 - 11 1545 c.1521C>T c.(1519-1521)TAC>TAT p.Y507Y GATSL3_uc003ahc.2_5'Flank|GATSL3_uc003ahe.2_5'Flank|GATSL3_uc003ahd.2_5'Flank|GATSL3_uc003ahf.2_Intron|GATSL3_uc003ahg.2_Intron|GATSL3_uc003ahh.2_Intron|GATSL3_uc010gvq.2_Intron|GATSL3_uc003ahi.2_Intron|GATSL3_uc010gvr.2_5'Flank|GATSL3_uc010gvs.2_5'Flank|TBC1D10A_uc003ahj.3_Silent_p.Y419Y|TBC1D10A_uc010gvu.2_Silent_p.Y514Y|TBC1D10A_uc003ahk.3_Silent_p.Y507Y NM_031937 NP_114143 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 507 Binding to the PDZ domain of EBP50. intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity ovary(1) 1 AGGGTTACAAGTAGGTGTCCT 0.597 55 76 --- --- --- --- PASS TBC1D10A 83874 broad.mit.edu 37 22 30688692 30688692 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:30688692G>A uc011akt.1 - 11 1223 c.1199C>T c.(1198-1200)CCC>CTC p.P400L GATSL3_uc003ahf.2_Intron|GATSL3_uc003ahg.2_Intron|GATSL3_uc003ahh.2_Intron|GATSL3_uc010gvq.2_Intron|GATSL3_uc003ahi.2_Intron|TBC1D10A_uc003ahj.3_Missense_Mutation_p.P312L|TBC1D10A_uc010gvu.2_Missense_Mutation_p.P407L|TBC1D10A_uc003ahk.3_Missense_Mutation_p.P400L NM_031937 NP_114143 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 400 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity ovary(1) 1 GGCAGGCCGGGGACCAGGTTC 0.662 17 23 --- --- --- --- PASS CCDC157 550631 broad.mit.edu 37 22 30762204 30762204 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:30762204C>T uc011aku.1 + 3 875 c.215C>T c.(214-216)TCC>TTC p.S72F CCDC157_uc011akv.1_Missense_Mutation_p.S72F NM_001017437 NP_001017437 Q569K6 CC157_HUMAN coiled-coil domain containing 157 72 central_nervous_system(1) 1 ACGCAGCTGTCCCATGCCGTG 0.617 22 70 --- --- --- --- PASS SEC14L2 23541 broad.mit.edu 37 22 30795663 30795663 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:30795663C>T uc003ahr.2 + 2 259 c.86C>T c.(85-87)GCC>GTC p.A29V SEC14L2_uc003ahq.2_Missense_Mutation_p.A29V|SEC14L2_uc011akx.1_Intron|SEC14L2_uc003ahs.2_Intron|SEC14L2_uc011aky.1_Missense_Mutation_p.A29V NM_012429 NP_036561 O76054 S14L2_HUMAN SEC14-like 2 isoform 1 29 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus phospholipid binding|transporter activity|vitamin E binding 0 Vitamin E(DB00163) GTGCTGCCGGCCCTGCCGAAT 0.627 10 12 --- --- --- --- PASS SEC14L2 23541 broad.mit.edu 37 22 30795664 30795664 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:30795664C>T uc003ahr.2 + 2 260 c.87C>T c.(85-87)GCC>GCT p.A29A SEC14L2_uc003ahq.2_Silent_p.A29A|SEC14L2_uc011akx.1_Intron|SEC14L2_uc003ahs.2_Intron|SEC14L2_uc011aky.1_Silent_p.A29A NM_012429 NP_036561 O76054 S14L2_HUMAN SEC14-like 2 isoform 1 29 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus phospholipid binding|transporter activity|vitamin E binding 0 Vitamin E(DB00163) TGCTGCCGGCCCTGCCGAATC 0.622 10 12 --- --- --- --- PASS SEC14L2 23541 broad.mit.edu 37 22 30795665 30795665 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:30795665C>T uc003ahr.2 + 2 261 c.88C>T c.(88-90)CTG>TTG p.L30L SEC14L2_uc003ahq.2_Silent_p.L30L|SEC14L2_uc011akx.1_Intron|SEC14L2_uc003ahs.2_Intron|SEC14L2_uc011aky.1_Silent_p.L30L NM_012429 NP_036561 O76054 S14L2_HUMAN SEC14-like 2 isoform 1 30 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus phospholipid binding|transporter activity|vitamin E binding 0 Vitamin E(DB00163) GCTGCCGGCCCTGCCGAATCC 0.617 11 12 --- --- --- --- PASS SLC35E4 339665 broad.mit.edu 37 22 31043001 31043001 + Missense_Mutation SNP C T T rs148051825 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:31043001C>T uc003ais.1 + 2 1681 c.1036C>T c.(1036-1038)CCC>TCC p.P346S SLC35E4_uc003ait.2_Intron NM_001001479 NP_001001479 Q6ICL7 S35E4_HUMAN solute carrier family 35, member E4 346 integral to membrane 0 GAGGGACCAGCCCAGCAAGGG 0.617 3 17 --- --- --- --- PASS MORC2 22880 broad.mit.edu 37 22 31324124 31324124 + Missense_Mutation SNP G A A rs142559213 by1000genomes TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:31324124G>A uc003aje.1 - 26 4090 c.2726C>T c.(2725-2727)TCC>TTC p.S909F NM_014941 NP_055756 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 971 Potential. ATP binding|zinc ion binding ovary(1)|pancreas(1) 2 CTTGGCCCGGGAGTCAGCACG 0.577 4 22 --- --- --- --- PASS PATZ1 23598 broad.mit.edu 37 22 31722996 31722996 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:31722996G>A uc003akq.2 - 5 2606 c.1945C>T c.(1945-1947)CCT>TCT p.P649S PATZ1_uc003akp.2_3'UTR|PATZ1_uc003akr.2_Missense_Mutation_p.P603S NM_014323 NP_055138 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 649 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) soft_tissue(2) 2 TTCTGCTGAGGAGAGAAAGGT 0.552 12 49 --- --- --- --- PASS EIF4ENIF1 56478 broad.mit.edu 37 22 31864273 31864273 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:31864273G>A uc003akz.1 - 4 350 c.186C>T c.(184-186)GAC>GAT p.D62D EIF4ENIF1_uc003ala.1_Silent_p.D62D|EIF4ENIF1_uc003alb.1_Silent_p.D62D|EIF4ENIF1_uc003alc.1_Silent_p.D62D NM_019843 NP_062817 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E 62 nucleus protein binding|protein transporter activity ovary(1) 1 ACTTCTCAGGGTCCCAGACAC 0.498 20 31 --- --- --- --- PASS RFPL2 10739 broad.mit.edu 37 22 32586779 32586779 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:32586779G>A uc003amg.3 - 5 2053 c.1117C>T c.(1117-1119)CGT>TGT p.R373C RFPL2_uc003ame.3_Missense_Mutation_p.R312C|RFPL2_uc003amf.3_Missense_Mutation_p.R283C|RFPL2_uc003amh.3_Missense_Mutation_p.R283C NM_001098527 NP_001091997 O75678 RFPL2_HUMAN ret finger protein-like 2 isoform 2 373 zinc ion binding skin(1) 1 TCCCCAGGACGGACTGGAGCA 0.458 41 65 --- --- --- --- PASS FBXO7 25793 broad.mit.edu 37 22 32894464 32894464 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:32894464C>T uc003amq.2 + 9 1799 c.1516C>T c.(1516-1518)CCC>TCC p.P506S FBXO7_uc003amr.2_Missense_Mutation_p.P392S|FBXO7_uc003ams.2_Missense_Mutation_p.P350S|FBXO7_uc003amt.2_Missense_Mutation_p.P427S|FBXO7_uc003amu.2_Missense_Mutation_p.P392S|FBXO7_uc003amv.2_Missense_Mutation_p.P205S NM_012179 NP_036311 Q9Y3I1 FBX7_HUMAN F-box only protein 7 isoform 1 506 cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(1) 1 TGACAGATTTCCCTTTAGACC 0.512 14 36 --- --- --- --- PASS LARGE 9215 broad.mit.edu 37 22 33700276 33700276 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:33700276G>A uc003and.3 - 13 2248 c.1669C>T c.(1669-1671)CCC>TCC p.P557S LARGE_uc011amd.1_Missense_Mutation_p.P356S|LARGE_uc003ane.3_Missense_Mutation_p.P557S|LARGE_uc010gwp.2_Missense_Mutation_p.P505S|LARGE_uc011ame.1_Missense_Mutation_p.P489S|LARGE_uc011amf.1_Missense_Mutation_p.P557S NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 557 Lumenal (Potential). glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) AACATGTAGGGAGTGCTGATG 0.572 13 62 --- --- --- --- PASS ISX 91464 broad.mit.edu 37 22 35478585 35478585 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:35478585C>T uc003anj.2 + 2 1255 c.304C>T c.(304-306)CAC>TAC p.H102Y ISX_uc011amg.1_Missense_Mutation_p.H90Y NM_001008494 NP_001008494 Q2M1V0 ISX_HUMAN intestine-specific homeobox 102 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2) 5 GAAGATCTTCCACTTTACCCA 0.577 25 35 --- --- --- --- PASS HMOX1 3162 broad.mit.edu 37 22 35783130 35783130 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:35783130G>A uc003ant.1 + 3 677 c.597G>A c.(595-597)GTG>GTA p.V199V NM_002133 NP_002124 P09601 HMOX1_HUMAN heme oxygenase (decyclizing) 1 199 angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response endoplasmic reticulum membrane|extracellular space|microsome enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity ovary(1) 1 NADH(DB00157) GGCAGAGGGTGATAGAAGAGG 0.607 18 72 --- --- --- --- PASS RASD2 23551 broad.mit.edu 37 22 35948035 35948035 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:35948035C>T uc003anx.2 + 3 962 c.757C>T c.(757-759)CGG>TGG p.R253W RASD2_uc003any.2_Missense_Mutation_p.R253W NM_014310 NP_055125 Q96D21 RHES_HUMAN RASD family, member 2 precursor 253 locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity lung(2)|skin(1) 3 CAAGGTCCTTCGGGAAGGCCA 0.657 18 14 --- --- --- --- PASS APOL5 80831 broad.mit.edu 37 22 36124924 36124924 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:36124924C>T uc003aof.2 + 4 1281 c.1281C>T c.(1279-1281)GCC>GCT p.A427A NM_030642 NP_085145 Q9BWW9 APOL5_HUMAN apolipoprotein L5 427 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding 0 GGAGACAGGCCCCGGGAAGAC 0.612 15 16 --- --- --- --- PASS CSF2RB 1439 broad.mit.edu 37 22 37322029 37322029 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:37322029G>A uc003aqa.3 + 4 418 c.201G>A c.(199-201)GAG>GAA p.E67E CSF2RB_uc003aqc.3_Silent_p.E67E NM_000395 NP_000386 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta 67 Extracellular (Potential). respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity skin(2)|pancreas(1) 3 Sargramostim(DB00020) CTCCCAACAGGGACCTCCTGG 0.443 6 22 --- --- --- --- PASS CSF2RB 1439 broad.mit.edu 37 22 37328925 37328925 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:37328925G>A uc003aqa.3 + 9 1348 c.1131G>A c.(1129-1131)AGG>AGA p.R377R CSF2RB_uc003aqc.3_Silent_p.R383R NM_000395 NP_000386 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta 377 Extracellular (Potential).|Fibronectin type-III 2. respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity skin(2)|pancreas(1) 3 Sargramostim(DB00020) TCCAGTACAGGAAAGACACGG 0.557 18 20 --- --- --- --- PASS CYTH4 27128 broad.mit.edu 37 22 37692055 37692055 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:37692055G>A uc003arf.2 + 4 299 c.183G>A c.(181-183)AAG>AAA p.K61K CYTH4_uc003ard.3_Silent_p.K61K|CYTH4_uc003are.2_Silent_p.K61K|CYTH4_uc011amw.1_Silent_p.K4K|CYTH4_uc010gxe.2_Intron NM_013385 NP_037517 Q9UIA0 CYH4_HUMAN cytohesin 4 61 Potential.|SEC7. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 TGGCCCAGAAGGAGAAGGAGC 0.632 4 11 --- --- --- --- PASS PDXP 57026 broad.mit.edu 37 22 38055295 38055295 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:38055295C>T uc003atm.1 + 1 559 c.506C>T c.(505-507)CCC>CTC p.P169L SH3BP1_uc003atj.1_Intron|uc003atl.1_5'Flank NM_020315 NP_064711 Q96GD0 PLPP_HUMAN pyridoxal phosphatase 169 actin rod assembly|cellular response to ATP|positive regulation of actin filament depolymerization|protein dephosphorylation|regulation of cytokinesis|regulation of mitosis cytosol heat shock protein binding|metal ion binding|phosphoprotein phosphatase activity|pyridoxal phosphatase activity ovary(2) 2 Melanoma(58;0.0574) Pyridoxal(DB00147)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165) CTGCGCGACCCCGAGTGCCTA 0.577 6 3 --- --- --- --- PASS TRIOBP 11078 broad.mit.edu 37 22 38120911 38120911 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:38120911C>A uc003atr.2 + 7 2619 c.2348C>A c.(2347-2349)CCC>CAC p.P783H TRIOBP_uc003atu.2_Missense_Mutation_p.P611H|TRIOBP_uc003atq.1_Missense_Mutation_p.P783H|TRIOBP_uc003ats.1_Missense_Mutation_p.P611H NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 783 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) ACCTCCTCTCCCAATAGAGCC 0.567 5 106 --- --- --- --- PASS TRIOBP 11078 broad.mit.edu 37 22 38122137 38122137 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:38122137C>T uc003atr.2 + 7 3845 c.3574C>T c.(3574-3576)CCT>TCT p.P1192S TRIOBP_uc003atu.2_Missense_Mutation_p.P1020S|TRIOBP_uc003atq.1_Missense_Mutation_p.P1192S|TRIOBP_uc003ats.1_Missense_Mutation_p.P1020S NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 1192 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) CCAGGATCCCCCTGGAACTAG 0.642 8 48 --- --- --- --- PASS EIF3L 51386 broad.mit.edu 37 22 38273863 38273863 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:38273863C>T uc003auf.2 + 11 1347 c.1260C>T c.(1258-1260)TTC>TTT p.F420F EIF3L_uc003aue.1_Silent_p.F420F|EIF3L_uc011ann.1_Silent_p.F372F|EIF3L_uc003aug.2_Silent_p.F312F|EIF3L_uc003auh.2_Silent_p.F153F NM_016091 NP_057175 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3 420 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity ovary(1) 1 GCCCCAAGTTCCTGTCGCCTG 0.502 22 19 --- --- --- --- PASS PLA2G6 8398 broad.mit.edu 37 22 38536119 38536119 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:38536119G>A uc003auy.1 - 5 803 c.667C>T c.(667-669)CCG>TCG p.P223S PLA2G6_uc003auz.1_Missense_Mutation_p.P223S|PLA2G6_uc003ava.1_Missense_Mutation_p.P223S|PLA2G6_uc003avb.2_Missense_Mutation_p.P223S|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Intron NM_003560 NP_003551 O60733 PA2G6_HUMAN phospholipase A2, group VI isoform a 223 ANK 3. cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane ovary(1) 1 Melanoma(58;0.045) Quinacrine(DB01103) AGGTGCAGCGGGGTCAGCCCT 0.587 14 10 --- --- --- --- PASS CACNA1I 8911 broad.mit.edu 37 22 39966849 39966849 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:39966849C>T uc003ayc.2 + 1 92 c.92C>T c.(91-93)CCC>CTC p.P31L CACNA1I_uc003ayd.2_Missense_Mutation_p.P31L NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 31 Cytoplasmic (Potential). axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CCCCGGAGCCCCCCATCCTCC 0.677 13 12 --- --- --- --- PASS CACNA1I 8911 broad.mit.edu 37 22 39966850 39966850 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:39966850C>T uc003ayc.2 + 1 93 c.93C>T c.(91-93)CCC>CCT p.P31P CACNA1I_uc003ayd.2_Silent_p.P31P NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 31 Cytoplasmic (Potential). axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CCCGGAGCCCCCCATCCTCCC 0.677 14 13 --- --- --- --- PASS MKL1 57591 broad.mit.edu 37 22 40819620 40819620 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:40819620G>A uc003ayv.1 - 6 754 c.547C>T c.(547-549)CCT>TCT p.P183S MKL1_uc003ayw.1_Missense_Mutation_p.P183S|MKL1_uc010gye.1_Missense_Mutation_p.P183S|MKL1_uc010gyf.1_Intron NM_020831 NP_065882 Q969V6 MKL1_HUMAN megakaryoblastic leukemia 1 protein 183 Mediates interaction with SCAI and ACTB (By similarity). positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GGTGGGGGAGGCAGAGGAGGC 0.552 T RBM15 acute megakaryocytic leukemia 5 33 --- --- --- --- PASS MKL1 57591 broad.mit.edu 37 22 40820341 40820341 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:40820341C>T uc003ayv.1 - 5 553 c.346G>A c.(346-348)GAT>AAT p.D116N MKL1_uc003ayw.1_Missense_Mutation_p.D116N|MKL1_uc010gye.1_Missense_Mutation_p.D116N|MKL1_uc010gyf.1_Missense_Mutation_p.D116N NM_020831 NP_065882 Q969V6 MKL1_HUMAN megakaryoblastic leukemia 1 protein 116 Mediates interaction with SCAI and ACTB (By similarity). positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 CTGTCCTCATCGAAGGAAGAG 0.587 T RBM15 acute megakaryocytic leukemia 25 20 --- --- --- --- PASS MCHR1 2847 broad.mit.edu 37 22 41077494 41077494 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:41077494C>T uc003ayz.2 + 2 1099 c.831C>T c.(829-831)TTC>TTT p.F277F MCHR1_uc003aza.2_Silent_p.F166F NM_005297 NP_005288 Q99705 MCHR1_HUMAN G protein-coupled receptor 24 277 Extracellular (Potential). elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity 0 TCTACTGGTTCACCCTGTACC 0.602 34 29 --- --- --- --- PASS EP300 2033 broad.mit.edu 37 22 41572364 41572364 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:41572364C>T uc003azl.3 + 30 5288 c.4893C>T c.(4891-4893)CTC>CTT p.L1631L NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1631 Binding region for E1A adenovirus. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 ATGCGTTTCTCACGCTGGCAA 0.597 T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 38 46 --- --- --- --- PASS EP300 2033 broad.mit.edu 37 22 41574204 41574204 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:41574204C>T uc003azl.3 + 31 6884 c.6489C>T c.(6487-6489)CCC>CCT p.P2163P NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 2163 Interaction with HTLV-1 Tax.|Interaction with NCOA2. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 GGATGAGCCCCCAGGCTCAGC 0.567 T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 30 31 --- --- --- --- PASS MEI1 150365 broad.mit.edu 37 22 42166870 42166870 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:42166870G>A uc003baz.1 + 20 2474 c.2449G>A c.(2449-2451)GAT>AAT p.D817N WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.D203N|MEI1_uc003bbc.1_Missense_Mutation_p.D185N|MEI1_uc010gym.1_Missense_Mutation_p.D185N|MEI1_uc003bbd.1_Missense_Mutation_p.D60N NM_152513 NP_689726 Q5TIA1 MEI1_HUMAN meiosis defective 1 817 binding central_nervous_system(1)|skin(1) 2 GGAACTGGATGATGTCACCTC 0.537 23 74 --- --- --- --- PASS SEPT3 55964 broad.mit.edu 37 22 42388703 42388703 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:42388703C>T uc003bbr.3 + 8 939 c.801C>T c.(799-801)GAC>GAT p.D267D WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_Silent_p.D267D|SEPT3_uc010gyr.2_Silent_p.D203D|SEPT3_uc011apj.1_Silent_p.D203D|SEPT3_uc010gys.2_Silent_p.D47D NM_145733 NP_663786 Q9UH03 SEPT3_HUMAN septin 3 isoform A 267 cell cycle|cytokinesis cell junction|septin complex GTP binding 0 TGGGAAGTGACAAGGAGTACC 0.522 13 9 --- --- --- --- PASS FAM109B 150368 broad.mit.edu 37 22 42473757 42473757 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:42473757G>T uc003bbz.2 + 3 647 c.460G>T c.(460-462)GCC>TCC p.A154S C22orf32_uc003bca.2_5'Flank NM_001002034 NP_001002034 Q6ICB4 SESQ2_HUMAN hypothetical protein LOC150368 154 endosome organization|receptor recycling|retrograde transport, endosome to Golgi clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network protein homodimerization activity 0 GAAGTCTGTTGCCAGCCGCTG 0.622 5 35 --- --- --- --- PASS CYB5R3 1727 broad.mit.edu 37 22 43024195 43024195 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:43024195G>A uc003bcz.2 - 5 510 c.426C>T c.(424-426)TTC>TTT p.F142F CYB5R3_uc010gzc.1_Silent_p.F16F|CYB5R3_uc003bcw.2_Silent_p.F132F|CYB5R3_uc011aps.1_Silent_p.F175F|CYB5R3_uc003bcy.2_Silent_p.F119F|CYB5R3_uc003bcx.2_Silent_p.F119F NM_000398 NP_000389 P00387 NB5R3_HUMAN cytochrome b5 reductase 3 isoform m 142 FAD (By similarity).|FAD-binding FR-type. blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane cytochrome-b5 reductase activity skin(1) 1 NADH(DB00157) TGGGGCCCCGGAACTCAATGG 0.562 87 70 --- --- --- --- PASS SMC1B 27127 broad.mit.edu 37 22 45789578 45789578 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:45789578C>T uc003bgc.2 - 9 1533 c.1481G>A c.(1480-1482)GGA>GAA p.G494E SMC1B_uc003bgd.2_Missense_Mutation_p.G494E|SMC1B_uc003bge.1_Missense_Mutation_p.G277E NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN SMC1 structural maintenance of chromosomes 494 Flexible hinge. chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding ovary(2) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CTGACGTTTTCCCTCATGGGT 0.328 16 26 --- --- --- --- PASS ATXN10 25814 broad.mit.edu 37 22 46136353 46136353 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:46136353T>C uc003bgm.1 + 9 1365 c.1108T>C c.(1108-1110)TTT>CTT p.F370L ATXN10_uc011aqt.1_Missense_Mutation_p.F306L|ATXN10_uc003bgn.1_Missense_Mutation_p.F181L NM_013236 NP_037368 Q9UBB4 ATX10_HUMAN ataxin 10 370 cell death|neuron projection development dendrite|neuronal cell body|perinuclear region of cytoplasm ovary(1)|kidney(1) 2 Ovarian(80;0.00973)|all_neural(38;0.0417) UCEC - Uterine corpus endometrioid carcinoma (28;0.0223) GGCCAATGGGTTTAAGTCTCA 0.383 15 52 --- --- --- --- PASS PKDREJ 10343 broad.mit.edu 37 22 46656603 46656603 + Nonsense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:46656603G>A uc003bhh.2 - 1 2617 c.2617C>T c.(2617-2619)CAG>TAG p.Q873* NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 873 Extracellular (Potential).|REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CTGAAGAGCTGGTTGATACCC 0.408 22 36 --- --- --- --- PASS GTSE1 51512 broad.mit.edu 37 22 46708110 46708110 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:46708110C>T uc011aqy.1 + 5 1047 c.835C>T c.(835-837)CTC>TTC p.L279F GTSE1_uc011aqz.1_Missense_Mutation_p.L126F NM_016426 NP_057510 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 260 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule ovary(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) CCGGGATGTTCTCCCTGACAA 0.537 13 29 --- --- --- --- PASS GTSE1 51512 broad.mit.edu 37 22 46725379 46725379 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:46725379C>T uc011aqy.1 + 11 2263 c.2051C>T c.(2050-2052)TCT>TTT p.S684F GTSE1_uc011aqz.1_Missense_Mutation_p.S531F|GTSE1_uc003bhn.2_RNA|uc011ara.1_5'Flank|uc003bho.3_5'Flank NM_016426 NP_057510 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 665 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule ovary(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) GCTGTAGGATCTGAAAGCAGG 0.542 72 62 --- --- --- --- PASS CELSR1 9620 broad.mit.edu 37 22 46930004 46930004 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:46930004G>A uc003bhw.1 - 1 3064 c.3064C>T c.(3064-3066)CGT>TGT p.R1022C NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1022 Extracellular (Potential).|Cadherin 8. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TCGTTAGCACGAATCTTTGCC 0.517 19 33 --- --- --- --- PASS GRAMD4 23151 broad.mit.edu 37 22 47033853 47033853 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:47033853C>T uc003bhx.2 + 2 318 c.279C>T c.(277-279)TTC>TTT p.F93F GRAMD4_uc010had.2_Silent_p.F32F NM_015124 NP_055939 Q6IC98 GRAM4_HUMAN death-inducing-protein 93 Potential. apoptosis integral to membrane|mitochondrial membrane ovary(1) 1 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) AAAAACATTTCTTACGTGAGT 0.517 16 66 --- --- --- --- PASS ZBED4 9889 broad.mit.edu 37 22 50278157 50278157 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:50278157G>A uc003bix.2 + 2 1317 c.847G>A c.(847-849)GGG>AGG p.G283R NM_014838 NP_055653 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 283 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity ovary(2) 2 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) GAGCACCTCTGGGTCCAGGAG 0.572 58 53 --- --- --- --- PASS SBF1 6305 broad.mit.edu 37 22 50893807 50893807 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:50893807G>A uc003blh.2 - 33 4595 c.4400C>T c.(4399-4401)CCC>CTC p.P1467L SBF1_uc003ble.2_5'UTR|SBF1_uc003blf.2_5'UTR|SBF1_uc011arx.1_Missense_Mutation_p.P1105L NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 1441 Myotubularin phosphatase. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) GCGGTAGAAGGGGTCTGAGAG 0.687 25 26 --- --- --- --- PASS NCAPH2 29781 broad.mit.edu 37 22 50956661 50956661 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:50956661C>T uc003blr.3 + 7 722 c.600C>T c.(598-600)TCC>TCT p.S200S NCAPH2_uc003blq.3_Silent_p.S200S|NCAPH2_uc003blv.2_Silent_p.S200S|NCAPH2_uc010hbb.2_Silent_p.S51S|NCAPH2_uc003blu.3_RNA|NCAPH2_uc003bls.3_RNA|NCAPH2_uc003blt.3_RNA|NCAPH2_uc003blw.3_RNA|NCAPH2_uc003blx.3_Silent_p.S200S|NCAPH2_uc003bly.3_RNA NM_152299 NP_689512 Q6IBW4 CNDH2_HUMAN kleisin beta isoform 2 200 chromosome condensation chromosome|nucleus ovary(1)|skin(1) 2 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.212) AGGGCATGTCCCCCATGGAAC 0.642 24 24 --- --- --- --- PASS NCAPH2 29781 broad.mit.edu 37 22 50956662 50956662 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:50956662C>T uc003blr.3 + 7 723 c.601C>T c.(601-603)CCC>TCC p.P201S NCAPH2_uc003blq.3_Missense_Mutation_p.P201S|NCAPH2_uc003blv.2_Missense_Mutation_p.P201S|NCAPH2_uc010hbb.2_Missense_Mutation_p.P52S|NCAPH2_uc003blu.3_RNA|NCAPH2_uc003bls.3_RNA|NCAPH2_uc003blt.3_RNA|NCAPH2_uc003blw.3_RNA|NCAPH2_uc003blx.3_Missense_Mutation_p.P201S|NCAPH2_uc003bly.3_RNA NM_152299 NP_689512 Q6IBW4 CNDH2_HUMAN kleisin beta isoform 2 201 chromosome condensation chromosome|nucleus ovary(1)|skin(1) 2 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.212) GGGCATGTCCCCCATGGAACC 0.642 35 13 --- --- --- --- PASS ARSA 410 broad.mit.edu 37 22 51065164 51065164 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:51065164C>T uc003bnb.3 - 5 956 c.703G>A c.(703-705)GGG>AGG p.G235R ARSA_uc003bna.3_Missense_Mutation_p.G151R|ARSA_uc003bnc.3_Missense_Mutation_p.G235R|ARSA_uc003bnd.3_Missense_Mutation_p.G235R|ARSA_uc003bmz.3_Missense_Mutation_p.G235R|ARSA_uc010hbf.2_3'UTR NM_001085426 NP_001078895 P15289 ARSA_HUMAN arylsulfatase A isoform a precursor 235 lysosome arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity pancreas(1)|skin(1) 2 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) Micafungin(DB01141) AAGCTCTGCCCACTGAACTGA 0.617 16 51 --- --- --- --- PASS PLCXD1 55344 broad.mit.edu 37 X 215781 215781 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:215781G>A uc004cpc.2 + 7 1063 c.751G>A c.(751-753)GGC>AGC p.G251S PLCXD1_uc011mgx.1_RNA NM_018390 NP_060860 Q9NUJ7 PLCX1_HUMAN phosphatidylinositol-specific phospholipase C, X 251 intracellular signal transduction|lipid metabolic process phospholipase C activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GTTCGTGGCCGGCATCAACCT 0.617 14 13 --- --- --- --- PASS PLCXD1 55344 broad.mit.edu 37 X 215782 215782 + Missense_Mutation SNP G A A rs145500475 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:215782G>A uc004cpc.2 + 7 1064 c.752G>A c.(751-753)GGC>GAC p.G251D PLCXD1_uc011mgx.1_RNA NM_018390 NP_060860 Q9NUJ7 PLCX1_HUMAN phosphatidylinositol-specific phospholipase C, X 251 intracellular signal transduction|lipid metabolic process phospholipase C activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TTCGTGGCCGGCATCAACCTC 0.622 15 12 --- --- --- --- PASS CRLF2 64109 broad.mit.edu 37 X 1321372 1321372 + RNA SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:1321372G>A uc004cpm.1 - 4 c.383C>T Q9HC73 CRLF2_HUMAN Homo sapiens mRNA for IL-XR, complete cds. extracellular region|integral to membrane|plasma membrane receptor activity haematopoietic_and_lymphoid_tissue(7) 7 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CTGATGCCACGAAAATCTCAC 0.547 Mis|T P2RY8|IGH@ B-ALL|Downs associated ALL 59 122 --- --- --- --- PASS ASMTL 8623 broad.mit.edu 37 X 1531735 1531735 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:1531735C>A uc004cpx.1 - 12 1646 c.1535G>T c.(1534-1536)AGG>ATG p.R512M NCRNA00105_uc004cpv.2_RNA|NCRNA00105_uc004cpw.2_RNA|ASMTL_uc011mhe.1_Missense_Mutation_p.R436M|ASMTL_uc004cpy.1_Missense_Mutation_p.R496M|ASMTL_uc011mhf.1_Missense_Mutation_p.R454M NM_004192 NP_004183 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 512 ASMT-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GAGGGGGTCCCTGAAAAAGTC 0.582 5 94 --- --- --- --- PASS ASMTL 8623 broad.mit.edu 37 X 1536906 1536906 + Silent SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:1536906T>C uc004cpx.1 - 11 1593 c.1482A>G c.(1480-1482)CAA>CAG p.Q494Q ASMTL_uc011mhe.1_Silent_p.Q418Q|ASMTL_uc004cpy.1_Silent_p.Q478Q|ASMTL_uc011mhf.1_Silent_p.Q436Q NM_004192 NP_004183 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 494 ASMT-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GTCCGGGGGGTTGGAAGTGGG 0.602 10 27 --- --- --- --- PASS ZBED1 9189 broad.mit.edu 37 X 2408485 2408485 + Silent SNP G T T rs143939578 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:2408485G>T uc004cqg.2 - 2 477 c.276C>A c.(274-276)ACC>ACA p.T92T DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Silent_p.T92T NM_004729 NP_004720 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 92 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGGAGAAGGCGGTGGCGAAGG 0.632 4 55 --- --- --- --- PASS ZBED1 9189 broad.mit.edu 37 X 2408626 2408626 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:2408626G>A uc004cqg.2 - 2 336 c.135C>T c.(133-135)ATC>ATT p.I45I DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Silent_p.I45I NM_004729 NP_004720 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 45 BED-type. nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGCGGCAGTAGATTTTCTTCC 0.582 28 44 --- --- --- --- PASS ARSF 416 broad.mit.edu 37 X 3021844 3021844 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:3021844C>T uc004cre.1 + 9 1365 c.1144C>T c.(1144-1146)CCA>TCA p.P382S ARSF_uc004crf.1_Missense_Mutation_p.P382S NM_004042 NP_004033 P54793 ARSF_HUMAN arylsulfatase F precursor 382 extracellular region arylsulfatase activity|metal ion binding ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AATCCGCGTCCCAGGAATTGT 0.448 15 4 --- --- --- --- PASS NLGN4X 57502 broad.mit.edu 37 X 5811208 5811208 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:5811208C>T uc010ndh.2 - 6 2602 c.2101G>A c.(2101-2103)GAC>AAC p.D701N NLGN4X_uc004crp.2_Missense_Mutation_p.D721N|NLGN4X_uc004crq.2_Missense_Mutation_p.D701N|NLGN4X_uc010ndi.2_Missense_Mutation_p.D738N|NLGN4X_uc004crr.2_Missense_Mutation_p.D701N|NLGN4X_uc010ndj.2_Missense_Mutation_p.D701N NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 701 Cytoplasmic (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 CGCCTCTTGTCCTTTTTGTAG 0.507 19 13 --- --- --- --- PASS GLRA2 2742 broad.mit.edu 37 X 14625263 14625263 + Silent SNP G A A rs113271440 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:14625263G>A uc010nep.2 + 7 920 c.588G>A c.(586-588)ACG>ACA p.T196T GLRA2_uc010neq.2_Silent_p.T196T|GLRA2_uc004cwe.3_Silent_p.T196T|GLRA2_uc011mio.1_Silent_p.T107T|GLRA2_uc011mip.1_Silent_p.T174T NM_001118885 NP_001112357 P23416 GLRA2_HUMAN glycine receptor, alpha 2 isoform A 196 Extracellular (Probable). neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(1)|lung(1) 2 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) TTGGGTACACGATGAATGACC 0.388 35 15 --- --- --- --- PASS MOSPD2 158747 broad.mit.edu 37 X 14933878 14933878 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:14933878C>T uc004cwi.2 + 12 1266 c.1178C>T c.(1177-1179)CCC>CTC p.P393L MOSPD2_uc004cwj.2_Missense_Mutation_p.P330L NM_152581 NP_689794 Q8NHP6 MSPD2_HUMAN motile sperm domain containing 2 393 MSP. integral to membrane structural molecule activity lung(1) 1 Hepatocellular(33;0.183) GTTGTGTCTCCCCATGGGGGT 0.517 52 20 --- --- --- --- PASS FIGF 2277 broad.mit.edu 37 X 15364280 15364280 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:15364280C>T uc004cwt.1 - 7 1549 c.1040G>A c.(1039-1041)GGG>GAG p.G347E NM_004469 NP_004460 O43915 VEGFD_HUMAN vascular endothelial growth factor D 347 angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding ovary(1)|breast(1)|central_nervous_system(1) 3 Hepatocellular(33;0.183) GCTGTGGGGCCCCTGGGCAGC 0.498 37 19 --- --- --- --- PASS CNKSR2 22866 broad.mit.edu 37 X 21549974 21549974 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:21549974G>A uc004czx.1 + 11 1128 c.1092G>A c.(1090-1092)AGG>AGA p.R364R CNKSR2_uc004czw.2_Silent_p.R364R|CNKSR2_uc011mjn.1_Silent_p.R315R|CNKSR2_uc011mjo.1_Silent_p.R364R|CNKSR2_uc004czy.2_5'UTR NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 364 DUF1170. regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 CTTTCTTTAGGGATGAAAAAG 0.373 7 9 --- --- --- --- PASS PTCHD1 139411 broad.mit.edu 37 X 23398342 23398342 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:23398342T>C uc004dal.3 + 2 994 c.986T>C c.(985-987)TTC>TCC p.F329S PTCHD1_uc010nfu.1_Missense_Mutation_p.F329S NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN patched domain containing 1 329 Helical; (Potential).|SSD. cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity ovary(4)|kidney(1)|skin(1) 6 AATTCCACCTTCCTGGGAGTC 0.502 32 23 --- --- --- --- PASS POLA1 5422 broad.mit.edu 37 X 24741283 24741283 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:24741283C>T uc004dbl.2 + 11 1104 c.1081C>T c.(1081-1083)CTG>TTG p.L361L POLA1_uc004dbm.2_Silent_p.L367L|POLA1_uc004dbn.2_Silent_p.L225L NM_016937 NP_058633 P09884 DPOLA_HUMAN DNA-directed DNA polymerase alpha 1 361 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding ovary(2)|skin(1) 3 Clofarabine(DB00631)|Fludarabine(DB01073) TGTGGTATTTCTGTTTGGGAA 0.393 28 23 --- --- --- --- PASS MAGEB18 286514 broad.mit.edu 37 X 26157987 26157987 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:26157987C>T uc004dbq.1 + 2 1072 c.885C>T c.(883-885)GTC>GTT p.V295V NM_173699 NP_775970 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 295 MAGE. protein binding central_nervous_system(1) 1 ATGATACCGTCCCTAGTGCCT 0.522 15 8 --- --- --- --- PASS CXorf21 80231 broad.mit.edu 37 X 30578032 30578032 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:30578032C>T uc004dcg.1 - 3 717 c.441G>A c.(439-441)GAG>GAA p.E147E NM_025159 NP_079435 Q9HAI6 CX021_HUMAN hypothetical protein LOC80231 147 ovary(1) 1 CAAAACTGCTCTCAGAGGGAA 0.423 16 10 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 31893359 31893359 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:31893359C>T uc004dda.1 - 48 7288 c.7044G>A c.(7042-7044)AGG>AGA p.R2348R DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Silent_p.R1004R|DMD_uc004dcx.2_Silent_p.R1007R|DMD_uc004dcz.2_Silent_p.R2225R|DMD_uc004dcy.1_Silent_p.R2344R|DMD_uc004ddb.1_Silent_p.R2340R|DMD_uc010ngn.1_RNA NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2348 Missing (in DMD). 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) CCAACTGATTCCTAATAGGAG 0.338 4 2 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 31893360 31893360 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:31893360C>T uc004dda.1 - 48 7287 c.7043G>A c.(7042-7044)AGG>AAG p.R2348K DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.R1004K|DMD_uc004dcx.2_Missense_Mutation_p.R1007K|DMD_uc004dcz.2_Missense_Mutation_p.R2225K|DMD_uc004dcy.1_Missense_Mutation_p.R2344K|DMD_uc004ddb.1_Missense_Mutation_p.R2340K|DMD_uc010ngn.1_RNA NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2348 Missing (in DMD). 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) CAACTGATTCCTAATAGGAGA 0.343 4 3 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 31893406 31893406 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:31893406G>A uc004dda.1 - 48 7241 c.6997C>T c.(6997-6999)CTT>TTT p.L2333F DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.L989F|DMD_uc004dcx.2_Missense_Mutation_p.L992F|DMD_uc004dcz.2_Missense_Mutation_p.L2210F|DMD_uc004dcy.1_Missense_Mutation_p.L2329F|DMD_uc004ddb.1_Missense_Mutation_p.L2325F|DMD_uc010ngn.1_RNA NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2333 Missing (in DMD). 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) TGCTCTTCAAGGTCTTCAAGC 0.378 6 3 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 32404508 32404508 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:32404508C>T uc004dda.1 - 33 4837 c.4593G>A c.(4591-4593)CAG>CAA p.Q1531Q DMD_uc004dcw.2_Silent_p.Q187Q|DMD_uc004dcx.2_Silent_p.Q190Q|DMD_uc004dcz.2_Silent_p.Q1408Q|DMD_uc004dcy.1_Silent_p.Q1527Q|DMD_uc004ddb.1_Silent_p.Q1523Q|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1531 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) TCTGCTTTTTCTGTACAATCT 0.373 37 16 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 32429976 32429976 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:32429976C>T uc004dda.1 - 30 4370 c.4126G>A c.(4126-4128)GAA>AAA p.E1376K DMD_uc004dcw.2_Missense_Mutation_p.E32K|DMD_uc004dcx.2_Missense_Mutation_p.E35K|DMD_uc004dcz.2_Missense_Mutation_p.E1253K|DMD_uc004dcy.1_Missense_Mutation_p.E1372K|DMD_uc004ddb.1_Missense_Mutation_p.E1368K|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1376 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) AAGGATTTTTCAGTCTCCTGG 0.433 11 9 --- --- --- --- PASS MAGEB16 139604 broad.mit.edu 37 X 35820350 35820350 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:35820350G>A uc010ngt.1 + 2 316 c.37G>A c.(37-39)GAT>AAT p.D13N NM_001099921 NP_001093391 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 13 lung(3)|ovary(2)|breast(1)|skin(1) 7 ATGCACACATGATCAGCACCT 0.557 16 14 --- --- --- --- PASS FAM47C 442444 broad.mit.edu 37 X 37029130 37029130 + Nonsense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:37029130C>T uc004ddl.1 + 1 2661 c.2647C>T c.(2647-2649)CAA>TAA p.Q883* NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 883 ovary(3) 3 AGCAACCTATCAAGACCAAAA 0.453 49 19 --- --- --- --- PASS EFHC2 80258 broad.mit.edu 37 X 44091790 44091790 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:44091790G>A uc004dgb.3 - 11 1647 c.1557C>T c.(1555-1557)TAC>TAT p.Y519Y NM_025184 NP_079460 Q5JST6 EFHC2_HUMAN EF-hand domain (C-terminal) containing 2 519 DM10 3. calcium ion binding breast(3)|ovary(2)|central_nervous_system(1) 6 AACGAAATAGGTAACCATTCA 0.388 4 1 --- --- --- --- PASS DUSP21 63904 broad.mit.edu 37 X 44703484 44703484 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:44703484G>T uc004dgd.2 + 1 236 c.106G>T c.(106-108)GCC>TCC p.A36S NM_022076 NP_071359 Q9H596 DUS21_HUMAN dual specificity phosphatase 21 36 Tyrosine-protein phosphatase. cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(1)|lung(1) 2 CAATGGTGTGGCCGCCAACGA 0.517 4 29 --- --- --- --- PASS ZNF630 57232 broad.mit.edu 37 X 47918009 47918009 + Missense_Mutation SNP A T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:47918009A>T uc004div.3 - 5 2074 c.1822T>A c.(1822-1824)TTT>ATT p.F608I ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.F484I NM_001037735 NP_001032824 Q2M218 ZN630_HUMAN zinc finger protein 630 608 C2H2-type 13; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|lung(1) 2 TTCCAGAAAAAAGTCATTCCA 0.443 14 14 --- --- --- --- PASS XAGE5 170627 broad.mit.edu 37 X 52841655 52841655 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:52841655C>T uc004drd.1 + 2 130 c.65C>T c.(64-66)CCT>CTT p.P22L NM_130775 NP_570131 Q8WWM1 GAGD5_HUMAN X antigen family, member 5 22 ovary(1) 1 CTGGTTGGGCCTATGCTTGTG 0.363 25 10 --- --- --- --- PASS SMC1A 8243 broad.mit.edu 37 X 53439105 53439105 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:53439105G>A uc004dsg.2 - 6 1022 c.953C>T c.(952-954)TCT>TTT p.S318F SMC1A_uc011moe.1_Missense_Mutation_p.S296F|SMC1A_uc011mof.1_Intron NM_006306 NP_006297 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 318 Potential. cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity ovary(5)|central_nervous_system(1) 6 ATTCTGCAGAGACTTCTTGGC 0.498 7 12 --- --- --- --- PASS PFKFB1 5207 broad.mit.edu 37 X 54971969 54971969 + Missense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:54971969C>A uc004dty.1 - 10 1072 c.1001G>T c.(1000-1002)TGT>TTT p.C334F PFKFB1_uc010nkd.1_Missense_Mutation_p.C142F|PFKFB1_uc011mol.1_Missense_Mutation_p.C269F NM_002625 NP_002616 P16118 F261_HUMAN 6-phosphofructo-2-kinase/fructose-2, 334 Fructose-2,6-bisphosphatase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding ovary(1) 1 CATCTCCTCACAGACACCCTG 0.428 8 3 --- --- --- --- PASS MTMR8 55613 broad.mit.edu 37 X 63444242 63444242 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:63444242C>T uc011mou.1 - 11 2123 c.2055G>A c.(2053-2055)TTG>TTA p.L685L ASB12_uc004dvp.1_Silent_p.L301L|ASB12_uc004dvq.1_Silent_p.L310L|ASB12_uc004dvr.1_Silent_p.L310L NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 Error:Variant_position_missing_in_Q96EF0_after_alignment nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 GGTAGCTAATCAACATGGGAG 0.522 24 10 --- --- --- --- PASS P2RY4 5030 broad.mit.edu 37 X 69478397 69478397 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:69478397G>A uc004dxz.1 - 1 1258 c.1078C>T c.(1078-1080)CCT>TCT p.P360S NM_002565 NP_002556 P51582 P2RY4_HUMAN pyrimidinergic receptor P2Y4 360 Cytoplasmic (Potential). Missing: Abolishes agonist-induced phosphorylation. Prevents agonist-induced desensitization and loss of cell surface receptors.|Missing: No functional effect.|Missing: No effect on agonist-induced phosphorylation, no functional effect. activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1) 1 TCTGCCCTAGGAGTAGAGCAG 0.602 14 5 --- --- --- --- PASS CDX4 1046 broad.mit.edu 37 X 72667453 72667453 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:72667453G>A uc011mqk.1 + 1 364 c.364G>A c.(364-366)GGA>AGA p.G122R NM_005193 NP_005184 O14627 CDX4_HUMAN caudal type homeobox 4 122 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(35;0.156) TGTGGGCGGTGGAACTAGCGG 0.677 4 3 --- --- --- --- PASS KIAA2022 340533 broad.mit.edu 37 X 73961213 73961213 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:73961213G>A uc004eby.2 - 3 3796 c.3179C>T c.(3178-3180)CCT>CTT p.P1060L NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 1060 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 GAATTTGTCAGGGGTGAAGTT 0.502 23 13 --- --- --- --- PASS KIAA2022 340533 broad.mit.edu 37 X 73962755 73962755 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:73962755T>A uc004eby.2 - 3 2254 c.1637A>T c.(1636-1638)AAT>ATT p.N546I NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 546 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 TTTAAAGCGATTAATGATGAT 0.408 18 15 --- --- --- --- PASS ZDHHC15 158866 broad.mit.edu 37 X 74644526 74644526 + Missense_Mutation SNP A C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:74644526A>C uc004ecg.2 - 8 1175 c.697T>G c.(697-699)TAC>GAC p.Y233D ZDHHC15_uc004ech.2_Missense_Mutation_p.Y224D|ZDHHC15_uc011mqo.1_RNA NM_144969 NP_659406 Q96MV8 ZDH15_HUMAN zinc finger, DHHC-type containing 15 isoform 1 233 integral to membrane zinc ion binding ovary(2) 2 CAACAATGGTAACCAAAGAGA 0.393 13 6 --- --- --- --- PASS ATP7A 538 broad.mit.edu 37 X 77271290 77271290 + Missense_Mutation SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:77271290T>A uc004ecx.3 + 12 2698 c.2538T>A c.(2536-2538)GAT>GAA p.D846E NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 846 Cytoplasmic (Potential). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity 0 AACGTGGAGATATCATTAAAG 0.403 36 24 --- --- --- --- PASS LPAR4 2846 broad.mit.edu 37 X 78011400 78011400 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:78011400C>T uc010nme.2 + 2 1439 c.1034C>T c.(1033-1035)TCC>TTC p.S345F NM_005296 NP_005287 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 345 Cytoplasmic (Potential). integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled ovary(3) 3 ACAAAGCCTTCCCTTCCAGCT 0.408 35 19 --- --- --- --- PASS TBX22 50945 broad.mit.edu 37 X 79279581 79279581 + Missense_Mutation SNP C T T rs145161769 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:79279581C>T uc010nmg.1 + 4 510 c.376C>T c.(376-378)CGG>TGG p.R126W TBX22_uc004edi.1_Missense_Mutation_p.R6W|TBX22_uc004edj.1_Missense_Mutation_p.R126W NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 126 T-box. multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.R126W(1) lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 CCCCTCTGTTCGGGTCAAGGT 0.488 26 12 --- --- --- --- PASS TBX22 50945 broad.mit.edu 37 X 79286288 79286288 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:79286288C>T uc010nmg.1 + 9 1375 c.1241C>T c.(1240-1242)TCT>TTT p.S414F TBX22_uc004edi.1_Missense_Mutation_p.S294F|TBX22_uc004edj.1_Missense_Mutation_p.S414F NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 414 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 CCTATGTTATCTTCCCTGGGG 0.438 40 25 --- --- --- --- PASS SYTL4 94121 broad.mit.edu 37 X 99945580 99945580 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:99945580G>A uc004egd.3 - 9 1053 c.697C>T c.(697-699)CCC>TCC p.P233S SYTL4_uc010nnb.2_5'UTR|SYTL4_uc010nnc.2_Missense_Mutation_p.P233S|SYTL4_uc004ege.3_Missense_Mutation_p.P233S|SYTL4_uc004egf.3_Missense_Mutation_p.P233S|SYTL4_uc004egg.3_Missense_Mutation_p.P233S NM_080737 NP_542775 Q96C24 SYTL4_HUMAN synaptotagmin-like 4 233 exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding ovary(2) 2 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGAGATTTGGGAGCAGACATC 0.303 8 2 --- --- --- --- PASS XKRX 402415 broad.mit.edu 37 X 100170053 100170053 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:100170053G>A uc004egn.2 - 3 1229 c.624C>T c.(622-624)TCC>TCT p.S208S XKRX_uc011mre.1_Silent_p.S4S NM_212559 NP_997724 Q6PP77 XKR2_HUMAN XK, Kell blood group complex subunit-related, 208 Helical; (Potential). integral to membrane|plasma membrane breast(1) 1 CAGATACCAGGGAAAATACCA 0.403 28 12 --- --- --- --- PASS ARMCX2 9823 broad.mit.edu 37 X 100911283 100911283 + Missense_Mutation SNP G T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:100911283G>T uc004eid.2 - 3 1647 c.1292C>A c.(1291-1293)CCA>CAA p.P431Q ARMCX2_uc004eie.3_Missense_Mutation_p.P431Q|ARMCX2_uc004eif.3_Missense_Mutation_p.P431Q|ARMCX2_uc004eig.3_Missense_Mutation_p.P431Q|ARMCX2_uc010nnt.2_Missense_Mutation_p.P431Q NM_177949 NP_808818 Q7L311 ARMX2_HUMAN ALEX2 protein 431 ARM 2. integral to membrane binding ovary(6) 6 TGCAATAATTGGGAGGCCTCC 0.413 4 44 --- --- --- --- PASS MUM1L1 139221 broad.mit.edu 37 X 105450669 105450669 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:105450669G>A uc004emf.1 + 4 1893 c.1244G>A c.(1243-1245)CGA>CAA p.R415Q MUM1L1_uc004emg.1_Missense_Mutation_p.R415Q NM_152423 NP_689636 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 415 PWWP. ovary(2)|pancreas(1)|skin(1) 4 AGTATCAGACGAAAAGAGAGG 0.323 19 10 --- --- --- --- PASS RNF128 79589 broad.mit.edu 37 X 105970510 105970510 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:105970510G>A uc004eml.2 + 1 617 c.367G>A c.(367-369)GGC>AGC p.G123S RNF128_uc004emk.2_Intron NM_194463 NP_919445 Q8TEB7 RN128_HUMAN ring finger protein 128 isoform 1 123 PA. endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding ovary(1)|central_nervous_system(1) 2 CATCCAACGCGGCGGGGGCTG 0.607 18 7 --- --- --- --- PASS COL4A6 1288 broad.mit.edu 37 X 107408618 107408618 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:107408618C>T uc004enw.3 - 38 3896 c.3793G>A c.(3793-3795)GGC>AGC p.G1265S COL4A6_uc004env.3_Missense_Mutation_p.G1264S|COL4A6_uc011msn.1_Missense_Mutation_p.G1240S|COL4A6_uc010npk.2_Missense_Mutation_p.G1240S|COL4A6_uc010npj.2_5'Flank NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 1265 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 CCATCTAGGCCTGGTCGCCCG 0.592 Alport_syndrome_with_Diffuse_Leiomyomatosis 5 54 --- --- --- --- PASS TMEM164 84187 broad.mit.edu 37 X 109414719 109414719 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:109414719C>T uc004eom.2 + 6 977 c.658C>T c.(658-660)CAC>TAC p.H220Y TMEM164_uc004eol.2_Missense_Mutation_p.H71Y|TMEM164_uc010npq.2_Missense_Mutation_p.H181Y NM_032227 NP_115603 Q5U3C3 TM164_HUMAN transmembrane protein 164 isoform b 220 Helical; (Potential). integral to membrane large_intestine(1)|lung(1)|skin(1) 3 GTTCTTTTATCACTTCAGCGT 0.507 85 31 --- --- --- --- PASS RGAG1 57529 broad.mit.edu 37 X 109694723 109694723 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:109694723G>A uc004eor.1 + 3 1124 c.878G>A c.(877-879)GGA>GAA p.G293E RGAG1_uc011msr.1_Missense_Mutation_p.G293E NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 293 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 AACTCTGGGGGAATACCTACC 0.483 62 31 --- --- --- --- PASS RGAG1 57529 broad.mit.edu 37 X 109697128 109697128 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:109697128C>T uc004eor.1 + 3 3529 c.3283C>T c.(3283-3285)CCG>TCG p.P1095S RGAG1_uc011msr.1_Missense_Mutation_p.P1095S NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 1095 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GATGTCCACTCCGGAAATCAA 0.537 54 23 --- --- --- --- PASS CHRDL1 91851 broad.mit.edu 37 X 109931896 109931896 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:109931896T>C uc004eou.3 - 9 1263 c.914A>G c.(913-915)AAT>AGT p.N305S CHRDL1_uc004eov.2_Missense_Mutation_p.N299S|CHRDL1_uc004eow.2_Missense_Mutation_p.N304S|CHRDL1_uc010nps.2_Missense_Mutation_p.N304S|CHRDL1_uc004eot.2_Missense_Mutation_p.N225S|CHRDL1_uc011mss.1_Missense_Mutation_p.N219S NM_001143981 NP_001137453 Q9BU40 CRDL1_HUMAN chordin-like 1 isoform 1 precursor 298 VWFC 3. BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region 0 GGGGTATCGATTGGGGCAGTG 0.478 49 39 --- --- --- --- PASS TRPC5 7224 broad.mit.edu 37 X 111155915 111155915 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:111155915G>A uc004epl.1 - 3 1423 c.504C>T c.(502-504)ATC>ATT p.I168I TRPC5_uc004epm.1_Silent_p.I168I NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 168 Cytoplasmic (Potential).|ANK 4. axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 GGGGCCGTGGGATAGTGACCC 0.522 29 14 --- --- --- --- PASS HTR2C 3358 broad.mit.edu 37 X 114141439 114141439 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:114141439C>T uc004epu.1 + 6 1566 c.838C>T c.(838-840)CCT>TCT p.P280S HTR2C_uc010nqc.1_Missense_Mutation_p.P280S|HTR2C_uc004epv.1_Missense_Mutation_p.P248L NM_000868 NP_000859 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C 280 Cytoplasmic (By similarity). cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity ovary(3) 3 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) CTCTGCAAACCCTAACCAAGA 0.517 56 20 --- --- --- --- PASS THOC2 57187 broad.mit.edu 37 X 122747266 122747266 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:122747266G>A uc004etu.2 - 36 4693 c.4661C>T c.(4660-4662)TCC>TTC p.S1554F THOC2_uc004etv.3_5'Flank|THOC2_uc010nqt.1_RNA|THOC2_uc004etw.1_Missense_Mutation_p.S375F NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 1554 Lys-rich. intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 GCCACCGGAGGAGATTTTATC 0.289 11 8 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123518520 123518520 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:123518520G>A uc004euj.2 - 29 6304 c.6240C>T c.(6238-6240)TTC>TTT p.F2080F ODZ1_uc011muj.1_Silent_p.F2086F|ODZ1_uc010nqy.2_Silent_p.F2087F NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2080 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TAATTACACTGAATTTTCCAA 0.378 32 14 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123805542 123805542 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:123805542C>T uc004euj.2 - 6 1223 c.1159G>A c.(1159-1161)GAG>AAG p.E387K ODZ1_uc011muj.1_Missense_Mutation_p.E386K|ODZ1_uc010nqy.2_Missense_Mutation_p.E387K NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 387 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 CCTTTTTTCTCTGATTTATCA 0.383 37 22 --- --- --- --- PASS OCRL 4952 broad.mit.edu 37 X 128710350 128710350 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:128710350C>T uc004euq.2 + 18 2101 c.1936C>T c.(1936-1938)CTG>TTG p.L646L OCRL_uc004eur.2_Silent_p.L646L NM_000276 NP_000267 Q01968 OCRL_HUMAN phosphatidylinositol polyphosphate 5-phosphatase 646 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding lung(2)|ovary(1)|kidney(1) 4 TGTAACCATCCTGAACTCGGG 0.408 23 20 --- --- --- --- PASS UTP14A 10813 broad.mit.edu 37 X 129053249 129053249 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:129053249C>T uc004euz.2 + 7 664 c.636C>T c.(634-636)CTC>CTT p.L212L UTP14A_uc011mup.1_Silent_p.L160L|UTP14A_uc011muq.1_Silent_p.L158L|UTP14A_uc004eva.1_5'Flank NM_006649 NP_006640 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 212 rRNA processing nucleolus|small-subunit processome protein binding ovary(2) 2 AGGCCTCTCTCCGAGCCATGA 0.542 48 17 --- --- --- --- PASS ARHGAP36 158763 broad.mit.edu 37 X 130220569 130220569 + Silent SNP T A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:130220569T>A uc004evz.2 + 11 1761 c.1416T>A c.(1414-1416)CTT>CTA p.L472L ARHGAP36_uc004ewa.2_Silent_p.L460L|ARHGAP36_uc004ewb.2_Silent_p.L441L|ARHGAP36_uc004ewc.2_Silent_p.L336L NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 472 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.L472I(1) ovary(3) 3 ATGCACTACTTTCTGATCCAG 0.473 41 18 --- --- --- --- PASS IGSF1 3547 broad.mit.edu 37 X 130416678 130416678 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:130416678G>A uc004ewd.2 - 7 1224 c.986C>T c.(985-987)CCC>CTC p.P329L IGSF1_uc004ewe.3_Missense_Mutation_p.P318L|IGSF1_uc004ewf.2_Missense_Mutation_p.P309L NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 329 Ig-like C2-type 4.|Extracellular (Potential). regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 CACAGCACTGGGCCGAGCAAG 0.493 24 11 --- --- --- --- PASS USP26 83844 broad.mit.edu 37 X 132159856 132159856 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:132159856C>T uc010nrm.1 - 6 2863 c.2393G>A c.(2392-2394)AGA>AAA p.R798K USP26_uc011mvf.1_Missense_Mutation_p.R798K NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN ubiquitin-specific protease 26 798 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(3)|central_nervous_system(3)|kidney(1)|liver(1) 8 Acute lymphoblastic leukemia(192;0.000127) GTCTTTGTTTCTTGGATTCTT 0.383 37 25 --- --- --- --- PASS CD40LG 959 broad.mit.edu 37 X 135741238 135741238 + Missense_Mutation SNP C G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:135741238C>G uc004faa.2 + 5 522 c.450C>G c.(448-450)AAC>AAG p.N150K CD40LG_uc010nsd.2_Missense_Mutation_p.N129K NM_000074 NP_000065 P29965 CD40L_HUMAN CD40 ligand 150 Extracellular (Potential). anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production extracellular space|integral to plasma membrane|soluble fraction CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) Atorvastatin(DB01076) CCATGAGCAACAACTTGGTAA 0.433 Immune_Deficiency_with_Hyper-IgM 121 88 --- --- --- --- PASS CD40LG 959 broad.mit.edu 37 X 135741253 135741253 + Silent SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:135741253G>A uc004faa.2 + 5 537 c.465G>A c.(463-465)CTG>CTA p.L155L CD40LG_uc010nsd.2_Silent_p.L134L NM_000074 NP_000065 P29965 CD40L_HUMAN CD40 ligand 155 Extracellular (Potential). L -> P (in HIGM1). anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production extracellular space|integral to plasma membrane|soluble fraction CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) Atorvastatin(DB01076) TGGTAACCCTGGAAAATGGGA 0.443 Immune_Deficiency_with_Hyper-IgM 132 88 --- --- --- --- PASS CD40LG 959 broad.mit.edu 37 X 135741254 135741254 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:135741254G>A uc004faa.2 + 5 538 c.466G>A c.(466-468)GAA>AAA p.E156K CD40LG_uc010nsd.2_Missense_Mutation_p.E135K NM_000074 NP_000065 P29965 CD40L_HUMAN CD40 ligand 156 Extracellular (Potential). anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production extracellular space|integral to plasma membrane|soluble fraction CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) Atorvastatin(DB01076) GGTAACCCTGGAAAATGGGAA 0.443 Immune_Deficiency_with_Hyper-IgM 131 88 --- --- --- --- PASS MCF2 4168 broad.mit.edu 37 X 138699718 138699718 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:138699718C>T uc004fau.2 - 8 1247 c.953G>A c.(952-954)CGG>CAG p.R318Q MCF2_uc004fav.2_Missense_Mutation_p.R318Q|MCF2_uc011mwl.1_Missense_Mutation_p.R279Q|MCF2_uc010nsh.1_Missense_Mutation_p.R318Q|MCF2_uc011mwm.1_Missense_Mutation_p.R279Q|MCF2_uc011mwn.1_Missense_Mutation_p.R463Q|MCF2_uc004faw.2_Missense_Mutation_p.R378Q|MCF2_uc011mwo.1_Missense_Mutation_p.R378Q NM_005369 NP_005360 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 318 Spectrin. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity lung(1)|pleura(1) 2 Acute lymphoblastic leukemia(192;0.000127) GAGTTGTATCCGTTTTGCTTT 0.383 57 16 --- --- --- --- PASS MAGEC3 139081 broad.mit.edu 37 X 140985241 140985241 + Missense_Mutation SNP A C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:140985241A>C uc011mwp.1 + 7 1697 c.1697A>C c.(1696-1698)GAG>GCG p.E566A MAGEC3_uc004fbs.2_Missense_Mutation_p.E268A|MAGEC3_uc010nsj.2_Missense_Mutation_p.E268A NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 566 MAGE 2. skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GTCCCCGAGGAGGTCATCTGG 0.498 40 22 --- --- --- --- PASS MAGEC1 9947 broad.mit.edu 37 X 140995733 140995733 + Missense_Mutation SNP A G G TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:140995733A>G uc004fbt.2 + 4 2829 c.2543A>G c.(2542-2544)GAG>GGG p.E848G MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 848 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) AGTTCCCCTGAGAGTCCTCTC 0.522 HNSCC(15;0.026) 61 19 --- --- --- --- PASS SPANXN3 139067 broad.mit.edu 37 X 142596772 142596772 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:142596772C>T uc004fbw.2 - 2 386 c.298G>A c.(298-300)GAA>AAA p.E100K NM_001009609 NP_001009609 Q5MJ09 SPXN3_HUMAN SPANX-N3 protein 100 ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) CCTAGGTCTTCATCCTCATTT 0.463 35 14 --- --- --- --- PASS SPANXN1 494118 broad.mit.edu 37 X 144337190 144337190 + Splice_Site SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:144337190G>A uc004fcb.2 + 2 76 c.76_splice c.e2-1 p.M26_splice NM_001009614 NP_001009614 Q5VSR9 SPXN1_HUMAN SPANX-N1 protein 0 Acute lymphoblastic leukemia(192;6.56e-05) TTTCTTAACAGATGCAGGAGA 0.443 22 14 --- --- --- --- PASS SLITRK2 84631 broad.mit.edu 37 X 144904756 144904756 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:144904756C>T uc004fcd.2 + 5 1803 c.813C>T c.(811-813)TCC>TCT p.S271S SLITRK2_uc010nsp.2_Silent_p.S271S|SLITRK2_uc010nso.2_Silent_p.S271S|SLITRK2_uc011mwq.1_Silent_p.S271S|SLITRK2_uc011mwr.1_Silent_p.S271S|SLITRK2_uc011mws.1_Silent_p.S271S|SLITRK2_uc004fcg.2_Silent_p.S271S|SLITRK2_uc011mwt.1_Silent_p.S271S NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 271 Extracellular (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) CCAGTGATTCCAGTCAGAGGG 0.567 29 26 --- --- --- --- PASS GPR50 9248 broad.mit.edu 37 X 150349046 150349046 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:150349046G>A uc010ntg.1 + 2 1126 c.991G>A c.(991-993)GAG>AAG p.E331K uc004fes.1_5'Flank|GPR50_uc011myc.1_3'UTR NM_004224 NP_004215 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 331 Cytoplasmic (Potential).|Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TGAGATGCAGGAGGCCCGTAC 0.557 39 16 --- --- --- --- PASS ZNF275 10838 broad.mit.edu 37 X 152612881 152612881 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:152612881C>T uc004fhg.1 + 4 915 c.738C>T c.(736-738)TTC>TTT p.F246F ZNF275_uc011mym.1_Silent_p.F246F|ZNF275_uc011myn.1_Silent_p.F183F A6NFS0 A6NFS0_HUMAN SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275; 246 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCAGGGATTTCCTGGATCGCC 0.592 27 13 --- --- --- --- PASS FLNA 2316 broad.mit.edu 37 X 153577261 153577261 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:153577261C>T uc004fkk.2 - 48 8149 c.7900G>A c.(7900-7902)GAC>AAC p.D2634N FLNA_uc004fki.2_Missense_Mutation_p.D674N|FLNA_uc011mzn.1_Missense_Mutation_p.D767N|FLNA_uc010nuu.1_Missense_Mutation_p.D2626N NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 2634 Self-association site, tail.|Filamin 24. D -> H (in Ref. 2; CAA37495). actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ATGTGCTCGTCCCCCCATTTG 0.667 17 7 --- --- --- --- PASS FLNA 2316 broad.mit.edu 37 X 153587670 153587670 + Missense_Mutation SNP G A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:153587670G>A uc004fkk.2 - 25 4496 c.4247C>T c.(4246-4248)CCT>CTT p.P1416L FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.P1416L NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 1416 Filamin 12. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGCCTCATAAGGGATGTACTC 0.642 19 10 --- --- --- --- PASS TAZ 6901 broad.mit.edu 37 X 153648062 153648062 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:153648062C>T uc004fkx.2 + 7 864 c.560C>T c.(559-561)TCC>TTC p.S187F TAZ_uc004fky.2_Intron|TAZ_uc004fkz.2_RNA|TAZ_uc004fla.2_Missense_Mutation_p.S157F|TAZ_uc004flb.2_Intron|TAZ_uc010nuy.2_Intron|TAZ_uc004flc.3_Intron NM_000116 NP_000107 Q16635 TAZ_HUMAN tafazzin isoform 1 187 Hydrophilic. cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development integral to membrane|mitochondrion 1-acylglycerophosphocholine O-acyltransferase activity 0 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AACATGAGTTCCGAATTCCTG 0.652 16 9 --- --- --- --- PASS GDI1 2664 broad.mit.edu 37 X 153668416 153668416 + Silent SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:153668416C>A uc004fli.3 + 5 859 c.517C>A c.(517-519)CGG>AGG p.R173R GDI1_uc011mzo.1_Silent_p.R173R|GDI1_uc004flj.2_5'Flank NM_001493 NP_001484 P31150 GDIA_HUMAN GDP dissociation inhibitor 1 173 protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|midbody GTPase activator activity|protein binding 0 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGACGTCTACCGGAAGTTTGA 0.577 5 180 --- --- --- --- PASS GDI1 2664 broad.mit.edu 37 X 153668445 153668445 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:153668445C>T uc004fli.3 + 5 888 c.546C>T c.(544-546)ATC>ATT p.I182I GDI1_uc011mzo.1_Silent_p.I182I|GDI1_uc004flj.2_5'Flank NM_001493 NP_001484 P31150 GDIA_HUMAN GDP dissociation inhibitor 1 182 protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|midbody GTPase activator activity|protein binding 0 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGGATGTCATCGATTTCACTG 0.617 95 53 --- --- --- --- PASS RAB39B 116442 broad.mit.edu 37 X 154490470 154490470 + Missense_Mutation SNP A C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:154490470A>C uc004fne.2 - 2 539 c.260T>G c.(259-261)CTC>CGC p.L87R NM_171998 NP_741995 Q96DA2 RB39B_HUMAN RAB39B, member RAS oncogene family 87 protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport Golgi apparatus|plasma membrane GTP binding 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GTCAAATAAGAGAAGACCACC 0.438 90 50 --- --- --- --- PASS SPRY3 10251 broad.mit.edu 37 X 155004226 155004226 + Silent SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:155004226C>T uc004fnq.1 + 2 1147 c.693C>T c.(691-693)TTC>TTT p.F231F SPRY3_uc010nvl.1_Silent_p.F132F NM_005840 NP_005831 O43610 SPY3_HUMAN sprouty homolog 3 231 SPR.|Cys-rich. multicellular organismal development|regulation of signal transduction cytoplasm|membrane 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TCTCCCTCTTCCTACCCTGCC 0.597 31 97 --- --- --- --- PASS IL9R 3581 broad.mit.edu 37 X 155233218 155233218 + Missense_Mutation SNP T C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrX:155233218T>C uc004fnv.1 + 3 426 c.247T>C c.(247-249)TTC>CTC p.F83L IL9R_uc010nvn.2_Missense_Mutation_p.F62L|IL9R_uc004fnu.1_Missense_Mutation_p.F130L NM_002186 NP_002177 Q01113 IL9R_HUMAN interleukin 9 receptor precursor 83 Extracellular (Potential). cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CTGGCTCCTCTTCACCAGGTG 0.597 9 19 --- --- --- --- PASS TBL1Y 90665 broad.mit.edu 37 Y 6893165 6893165 + Missense_Mutation SNP C T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrY:6893165C>T uc004frb.2 + 6 687 c.40C>T c.(40-42)CGG>TGG p.R14W TBL1Y_uc004frc.2_Missense_Mutation_p.R14W|TBL1Y_uc004frd.2_Missense_Mutation_p.R14W|TBL1Y_uc011nap.1_Intron NM_033284 NP_150600 Q9BQ87 TBL1Y_HUMAN transducin beta-like 1Y 14 LisH. transcription, DNA-dependent 0 TCTGGTTTATCGGTATCTCCA 0.448 23 14 --- --- --- --- PASS KDM5D 8284 broad.mit.edu 37 Y 21868707 21868707 + Nonsense_Mutation SNP C A A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chrY:21868707C>A uc004fug.2 - 25 4330 c.4042G>T c.(4042-4044)GAG>TAG p.E1348* KDM5D_uc011naz.1_Nonsense_Mutation_p.E1379*|KDM5D_uc010nwy.2_Nonsense_Mutation_p.E1291*|KDM5D_uc004fuf.2_Nonsense_Mutation_p.E523* NM_004653 NP_004644 Q9BY66 KDM5D_HUMAN jumonji, AT rich interactive domain 1D isoform 1348 chromatin modification|spermatogenesis nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding skin(1) 1 Vitamin C(DB00126) GCCATGTTCTCAGGACTGGTC 0.468 21 6 --- --- --- --- PASS CROCCL1 84809 broad.mit.edu 37 1 16945182 16945184 + RNA DEL AAT - - rs71803374 TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:16945182_16945184delAAT uc010ocf.1 - 4 c.973_975delATT CROCCL1_uc009vov.1_RNA|CROCCL1_uc001aze.2_RNA|CROCCL1_uc001azf.2_RNA Homo sapiens mRNA for FLJ00313 protein. 0 TACTGATGAAAATAATAACAGAT 0.246 3 3 --- --- --- --- CTPS 1503 broad.mit.edu 37 1 41466737 41466737 + Frame_Shift_Del DEL C - - TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:41466737delC uc001cgk.3 + 10 1550 c.1042delC c.(1042-1044)CAAfs p.Q348fs CTPS_uc010ojo.1_Frame_Shift_Del_p.Q117fs|CTPS_uc001cgl.3_Frame_Shift_Del_p.Q348fs|CTPS_uc010ojq.1_Frame_Shift_Del_p.Q192fs|CTPS_uc009vwe.2_Frame_Shift_Del_p.Q68fs NM_001905 NP_001896 P17812 PYRG1_HUMAN CTP synthase 348 Glutamine amidotransferase type-1. CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug cytosol ATP binding|CTP synthase activity|protein binding 0 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) L-Glutamine(DB00130) CATCACCTCGCAAGAAGAGCC 0.512 17 12 --- --- --- --- Unknown 0 broad.mit.edu 37 1 93791381 93791381 + RNA DEL C - - TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:93791381delC uc001dps.2 - 5 c.430delG uc001dpt.1_RNA Homo sapiens cDNA FLJ42965 fis, clone BRSTN2014751. ctagccTTTTCTAAGTGAAAG 0.164 3 3 --- --- --- --- MIA3 375056 broad.mit.edu 37 1 222801364 222801364 + Frame_Shift_Del DEL A - - TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr1:222801364delA uc001hnl.2 + 4 811 c.802delA c.(802-804)AAAfs p.K268fs MIA3_uc009xea.1_Frame_Shift_Del_p.K104fs NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 268 Extracellular (Potential). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) TAAACTTTTGAAAAAAGAAAT 0.358 34 15 --- --- --- --- Unknown 0 broad.mit.edu 37 2 25261272 25261272 + RNA DEL T - - TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr2:25261272delT uc002rfv.2 + 3 c.3368delT Homo sapiens cDNA FLJ45127 fis, clone BRAWH3036951. tgtatttttatttttttgaga 0.000 4 2 --- --- --- --- Unknown 0 broad.mit.edu 37 4 128761166 128761166 + RNA DEL G - - TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr4:128761166delG uc003ifn.2 + 1 c.2245delG Homo sapiens cDNA FLJ33585 fis, clone BRAMY2012163. gaggtcaggagtttgagacca 0.095 4 2 --- --- --- --- Unknown 0 broad.mit.edu 37 9 68413196 68413197 + RNA INS - C C TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr9:68413196_68413197insC uc004aew.1 + 2 c.1358_1359insC uc004aex.2_5'Flank Homo sapiens cDNA, FLJ98602. tagttagaagactaggctgctg 0.069 4 3 --- --- --- --- STAT2 6773 broad.mit.edu 37 12 56742562 56742563 + Frame_Shift_Ins INS - T T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr12:56742562_56742563insT uc001slc.2 - 18 1680_1681 c.1602_1603insA c.(1600-1605)CCATTAfs p.P534fs STAT2_uc001slb.2_Frame_Shift_Ins_p.P76fs|STAT2_uc001sld.2_Frame_Shift_Ins_p.P530fs NM_005419 NP_005410 P52630 STAT2_HUMAN signal transducer and activator of transcription 534_535 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(1)|lung(1)|kidney(1) 3 CAGGACAATAATGGATCCTCAG 0.530 24 16 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578200 7578221 + Frame_Shift_Del DEL CCACACTATGTCGAAAAGTGTT - - rs35163653 byFrequency TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr17:7578200_7578221delCCACACTATGTCGAAAAGTGTT uc002gim.2 - 6 822_843 c.628_649delAACACTTTTCGACATAGTGTGG c.(628-651)AACACTTTTCGACATAGTGTGGTGfs p.N210fs TP53_uc002gig.1_Frame_Shift_Del_p.N210fs|TP53_uc002gih.2_Frame_Shift_Del_p.N210fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.N78fs|TP53_uc010cng.1_Frame_Shift_Del_p.N78fs|TP53_uc002gii.1_Frame_Shift_Del_p.N78fs|TP53_uc010cnh.1_Frame_Shift_Del_p.N210fs|TP53_uc010cni.1_Frame_Shift_Del_p.N210fs|TP53_uc002gij.2_Frame_Shift_Del_p.N210fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.N117fs|TP53_uc002gio.2_Frame_Shift_Del_p.N78fs|TP53_uc010vug.1_Frame_Shift_Del_p.N171fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 210_217 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). V -> I (in a sporadic cancer; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> G (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.R213*(186)|p.V216M(49)|p.H214R(45)|p.R213L(25)|p.R213Q(22)|p.S215R(16)|p.S215I(15)|p.R213fs*34(10)|p.T211T(9)|p.V216del(8)|p.V216L(7)|p.T211I(7)|p.F212fs*3(7)|p.0?(7)|p.S215G(6)|p.S215N(6)|p.S215C(5)|p.R213P(5)|p.S215fs*32(4)|p.V216E(4)|p.T211N(4)|p.H214Y(4)|p.H214Q(4)|p.N210fs*37(4)|p.V216A(3)|p.V216G(3)|p.H214D(3)|p.S215T(3)|p.T211fs*4(3)|p.F212L(3)|p.T211fs*36(2)|p.S215S(2)|p.N210S(2)|p.H214fs*5(2)|p.R209fs*35(2)|p.V216fs*6(2)|p.R120*(2)|p.T211A(2)|p.T211fs*5(2)|p.V216fs*31(2)|p.V217L(2)|p.R81*(2)|p.F212S(2)|p.H214fs*33(2)|p.F212I(2)|p.R213G(2)|p.V217fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.D207_R213delDDRNTFR(1)|p.V217fs*5(1)|p.N210D(1)|p.N210N(1)|p.S215fs*31(1)|p.N210H(1)|p.N210K(1)|p.N210T(1)|p.D207_V216del10(1)|p.T211fs*28(1)|p.H214fs*7(1)|p.R213fs*32(1)|p.?fs(1)|p.D208_V216delDRNTFRHSV(1)|p.R209fs*36(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208fs*1(1)|p.V217del(1)|p.R213fs*2(1)|p.T211P(1)|p.T211S(1)|p.K164_P219del(1)|p.H214H(1)|p.F212fs*4(1)|p.R209_R213delRNTFR(1)|p.S215_V216insX(1)|p.R213_S215>X(1)|p.V216fs*28(1)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215del(1)|p.H214_S215insX(1)|p.T211_F212insX(1)|p.T211_S215delTFRHS(1)|p.E204_N210delEYLDDRN(1)|p.?(1)|p.N210fs*7(1)|p.R213>L(1)|p.F212Y(1)|p.S215_V218>R(1)|p.R213W(1)|p.R213R(1)|p.R209fs*6(1)|p.R209fs*5(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) TAGGGCACCACCACACTATGTCGAAAAGTGTTTCTGTCATCC 0.545 111 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) 12 6 --- --- --- --- AP1M2 10053 broad.mit.edu 37 19 10685628 10685628 + Frame_Shift_Del DEL G - - TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:10685628delG uc002mpc.2 - 10 1209 c.1125delC c.(1123-1125)CCCfs p.P375fs AP1M2_uc002mpd.2_Frame_Shift_Del_p.P377fs NM_005498 NP_005489 Q9Y6Q5 AP1M2_HUMAN adaptor-related protein complex 1, mu 2 subunit 375 MHD. cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding ovary(2) 2 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) TGACCCCGATGGGGGGCCGGC 0.612 5 8 --- --- --- --- FAM83E 54854 broad.mit.edu 37 19 49114047 49114047 + Frame_Shift_Del DEL C - - TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr19:49114047delC uc002pjn.2 - 2 588 c.523delG c.(523-525)GATfs p.D175fs NM_017708 NP_060178 Q2M2I3 FA83E_HUMAN hypothetical protein LOC54854 175 ovary(1) 1 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) GTGGCAGCATCCACCAAGTCC 0.652 2 4 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38121560 38121564 + Frame_Shift_Del DEL CTATG - - TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx aa733cb0-37a9-4fef-8d40-d57596ce9e51 c56da82c-b77a-44ef-a4c0-85de66f118cc g.chr22:38121560_38121564delCTATG uc003atr.2 + 7 3268_3272 c.2997_3001delCTATG c.(2995-3003)GCCTATGGGfs p.A999fs TRIOBP_uc003atu.2_Frame_Shift_Del_p.A827fs|TRIOBP_uc003atq.1_Frame_Shift_Del_p.A999fs|TRIOBP_uc003ats.1_Frame_Shift_Del_p.A827fs NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 999_1001 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) ACCCCGCTGCCTATGGGGCTCCCCT 0.644 76 44 --- --- --- ---