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 CALML6 163688 broad.mit.edu 37 1 1848280 1848280 + Missense_Mutation SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr1:1848280G>A uc001aih.1 + 4 797 c.343G>A c.(343-345)GCA>ACA p.A115T NM_138705 NP_619650 Q8TD86 CALL6_HUMAN calmodulin-like 6 115 EF-hand 3. cytoplasm|nucleus calcium ion binding 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) GCTGAGGGCGGCATTCCGTGT 0.597 5 174 --- --- --- --- PASS KIAA1751 85452 broad.mit.edu 37 1 1920058 1920058 + Missense_Mutation SNP C G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr1:1920058C>G uc001aim.1 - 4 345 c.189G>C c.(187-189)TTG>TTC p.L63F KIAA1751_uc009vkz.1_Missense_Mutation_p.L63F|KIAA1751_uc001ain.1_Missense_Mutation_p.L63F NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN hypothetical protein LOC85452 63 pancreas(1) 1 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) TTTTCTTCTTCAATTTATCAG 0.498 38 70 --- --- --- --- PASS ZBTB48 3104 broad.mit.edu 37 1 6642200 6642200 + Nonsense_Mutation SNP C G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr1:6642200C>G uc009vmc.1 + 3 896 c.773C>G c.(772-774)TCA>TGA p.S258* ZBTB48_uc001anx.2_Nonsense_Mutation_p.S258*|ZBTB48_uc009vmd.1_Nonsense_Mutation_p.S258* NM_005341 NP_005332 P10074 ZBT48_HUMAN zinc finger and BTB domain containing 48 258 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642) AGGAGGAAGTCAAATGTAATC 0.572 23 36 --- --- --- --- PASS PGD 5226 broad.mit.edu 37 1 10460560 10460560 + Silent SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr1:10460560G>A uc001arc.2 + 3 285 c.195G>A c.(193-195)CTG>CTA p.L65L PGD_uc001ard.2_5'UTR|PGD_uc010oak.1_Silent_p.L65L|PGD_uc010oal.1_Silent_p.L52L NM_002631 NP_002622 P52209 6PGD_HUMAN phosphogluconate dehydrogenase 65 pentose-phosphate shunt, oxidative branch cytosol NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding ovary(1) 1 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) TCTCCAAGCTGAAGAAGCCCC 0.522 31 57 --- --- --- --- PASS PLOD1 5351 broad.mit.edu 37 1 12024315 12024315 + Missense_Mutation SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr1:12024315C>T uc001atm.2 + 12 1377 c.1286C>T c.(1285-1287)GCC>GTC p.A429V PLOD1_uc010obb.1_Missense_Mutation_p.A476V NM_000302 NP_000293 Q02809 PLOD1_HUMAN lysyl hydroxylase 1 precursor 429 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) GGCTACTATGCCCGTTCCGAG 0.632 5 259 --- --- --- --- PASS NBPF1 55672 broad.mit.edu 37 1 16902856 16902856 + Silent SNP C A A rs144773412 by1000genomes TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr1:16902856C>A uc009vos.1 - 19 2913 c.2025G>T c.(2023-2025)CCG>CCT p.P675P NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Silent_p.P133P|NBPF1_uc010oce.1_Silent_p.P404P NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 675 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) CTGGCTCATCCGGAGTGAGGA 0.572 103 550 --- --- --- --- PASS CDA 978 broad.mit.edu 37 1 20931448 20931448 + Missense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr1:20931448C>A uc001bdk.2 + 2 361 c.182C>A c.(181-183)CCG>CAG p.P61Q CDA_uc001bdl.2_RNA|CDA_uc009vpv.2_Intron NM_001785 NP_001776 P32320 CDD_HUMAN cytidine deaminase 61 cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage cytosol|extracellular region cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding ovary(1) 1 Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|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)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199) Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441) GCCTGCTACCCGCTGGGCATC 0.522 18 26 --- --- --- --- PASS TRIM63 84676 broad.mit.edu 37 1 26387757 26387757 + Missense_Mutation SNP C G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr1:26387757C>G uc001bli.1 - 3 537 c.401G>C c.(400-402)TGT>TCT p.C134S NM_032588 NP_115977 Q969Q1 TRI63_HUMAN muscle specific ring finger protein 1 134 Interaction with TTN.|B box-type. cytoplasm|microtubule|nucleus ligase activity|signal transducer activity|titin binding|zinc ion binding kidney(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) ACACGTGAGACAGTAGATGTT 0.562 28 51 --- --- --- --- PASS KIAA0319L 79932 broad.mit.edu 37 1 35915495 35915495 + Missense_Mutation SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr1:35915495C>T uc001byx.2 - 15 2584 c.2326G>A c.(2326-2328)GAC>AAC p.D776N KIAA0319L_uc001byw.2_Missense_Mutation_p.D218N|KIAA0319L_uc010ohv.1_Missense_Mutation_p.D418N NM_024874 NP_079150 Q8IZA0 K319L_HUMAN dyslexia susceptibility 2-like 776 PKD 5.|Extracellular (Potential). cytoplasmic vesicle part|integral to membrane protein binding skin(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GTGGTCCGGTCTGTGTCACTC 0.483 32 61 --- --- --- --- PASS USP24 23358 broad.mit.edu 37 1 55608723 55608723 + Nonsense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr1:55608723C>A uc001cyg.3 - 19 2029 c.2029G>T c.(2029-2031)GAA>TAA p.E677* NM_015306 NP_056121 Q9UPU5 UBP24_HUMAN ubiquitin specific protease 24 837 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(6)|kidney(6)|breast(1) 13 TTAGCAATTTCTTCATCAGGT 0.284 5 4 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70446077 70446077 + Missense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr1:70446077C>A uc001dep.2 + 7 643 c.613C>A c.(613-615)CAA>AAA p.Q205K LRRC7_uc009wbg.2_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 205 LRR 8. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 AGTTCTGGATCAAATACAAAA 0.328 77 157 --- --- --- --- PASS RSBN1 54665 broad.mit.edu 37 1 114354943 114354943 + Missense_Mutation SNP C G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr1:114354943C>G uc001edq.2 - 1 128 c.92G>C c.(91-93)CGA>CCA p.R31P RSBN1_uc001edr.2_RNA NM_018364 NP_060834 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 31 nucleus ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-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) GTCCGCGCATCGCGCAAGCGC 0.672 37 36 --- --- --- --- PASS IGSF3 3321 broad.mit.edu 37 1 117158825 117158825 + Missense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr1:117158825C>A uc001egr.1 - 3 1003 c.298G>T c.(298-300)GGG>TGG p.G100W IGSF3_uc001egq.1_Missense_Mutation_p.G100W NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 100 Ig-like C2-type 1.|Extracellular (Potential). integral to membrane ovary(2) 2 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) GTTGAGTTCCCCTGGACTCTT 0.542 17 33 --- --- --- --- PASS OR10K1 391109 broad.mit.edu 37 1 158436285 158436285 + Missense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr1:158436285C>A uc010pij.1 + 1 934 c.934C>A c.(934-936)CTT>ATT p.L312I NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, 312 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TTTCTATCCTCTTAGTTAAag 0.204 19 36 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158636282 158636282 + Missense_Mutation SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr1:158636282G>T uc001fst.1 - 16 2243 c.2044C>A c.(2044-2046)CAG>AAG p.Q682K NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 682 Spectrin 7. 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) TCATGCAACTGGGTCCCTGGG 0.428 16 36 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158636283 158636283 + Silent SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr1:158636283G>T uc001fst.1 - 16 2242 c.2043C>A c.(2041-2043)ACC>ACA p.T681T NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 681 Spectrin 7. 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) CATGCAACTGGGTCCCTGGGA 0.428 16 36 --- --- --- --- PASS MR1 3140 broad.mit.edu 37 1 181018381 181018381 + Silent SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr1:181018381G>T uc001goq.1 + 2 266 c.261G>T c.(259-261)CTG>CTT p.L87L MR1_uc001gop.2_Silent_p.L87L|MR1_uc001gor.1_Silent_p.L87L|MR1_uc001gos.1_Silent_p.L87L|MR1_uc010pns.1_Silent_p.L87L NM_001531 NP_001522 Q95460 HMR1_HUMAN major histocompatibility complex, class 87 Extracellular (Potential).|Ligand-binding.|Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|immune response endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex MHC class I receptor activity skin(1) 1 ACACTCAGCTGCTGAGGGGCT 0.582 11 29 --- --- --- --- PASS CACNA1E 777 broad.mit.edu 37 1 181701998 181701998 + Missense_Mutation SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr1:181701998G>A uc001gow.2 + 20 2941 c.2776G>A c.(2776-2778)GTC>ATC p.V926I CACNA1E_uc009wxs.2_Missense_Mutation_p.V814I|CACNA1E_uc001gox.1_Missense_Mutation_p.V152I|CACNA1E_uc009wxt.2_Missense_Mutation_p.V152I NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 926 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 GCATCGCCGCGTCAGGACAGA 0.652 51 84 --- --- --- --- PASS KCNH1 3756 broad.mit.edu 37 1 210856666 210856666 + Missense_Mutation SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr1:210856666G>T uc001hib.2 - 11 3097 c.2927C>A c.(2926-2928)CCA>CAA p.P976Q KCNH1_uc001hic.2_Missense_Mutation_p.P949Q NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 976 Cytoplasmic (Potential). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TGGGGACTGTGGCCTCGATAT 0.438 72 165 --- --- --- --- PASS TMEM63A 9725 broad.mit.edu 37 1 226065176 226065176 + Silent SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr1:226065176C>A uc001hpm.1 - 3 355 c.105G>T c.(103-105)TCG>TCT p.S35S TMEM63A_uc010pvi.1_Silent_p.S35S NM_014698 NP_055513 O94886 TM63A_HUMAN transmembrane protein 63A 35 integral to membrane|lysosomal membrane nucleotide binding ovary(1)|breast(1) 2 Breast(184;0.197) TGTTTTTGGCCGAGTTGTAGC 0.607 OREG0014291 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 44 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228562323 228562323 + Missense_Mutation SNP C G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr1:228562323C>G uc009xez.1 + 97 22577 c.22533C>G c.(22531-22533)ATC>ATG p.I7511M OBSCN_uc001hsr.1_Missense_Mutation_p.I2140M NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 7511 Ig-like 55. 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) GTGTCCTCATCTCTGCCACCC 0.622 43 94 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237919670 237919670 + Missense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr1:237919670C>A uc001hyl.1 + 81 11348 c.11228C>A c.(11227-11229)ACA>AAA p.T3743K RYR2_uc010pya.1_Missense_Mutation_p.T158K NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3743 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) GTGCTACAGACAATCAGTGCC 0.488 27 53 --- --- --- --- PASS OR2B11 127623 broad.mit.edu 37 1 247614885 247614885 + Silent SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr1:247614885G>A uc010pyx.1 - 1 400 c.400C>T c.(400-402)CTG>TTG p.L134L NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 134 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GCATAGTGCAGGGGCTTGCAG 0.622 26 72 --- --- --- --- PASS OR2T34 127068 broad.mit.edu 37 1 248738056 248738056 + Missense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr1:248738056C>A uc001iep.1 - 1 3 c.3G>T c.(1-3)ATG>ATT p.M1I NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, 1 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 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) TCCCTGAGCACATGACTGGCT 0.448 20 82 --- --- --- --- PASS OR2T35 403244 broad.mit.edu 37 1 248801900 248801900 + Silent SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr1:248801900G>A uc001ies.1 - 1 660 c.660C>T c.(658-660)CAC>CAT p.H220H NM_001001827 NP_001001827 Q8NGX2 O2T35_HUMAN olfactory receptor, family 2, subfamily T, 220 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;2.04e-05)|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;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCAGGAGGATGTGCGTGTAGG 0.537 22 33 --- --- --- --- PASS TPO 7173 broad.mit.edu 37 2 1499811 1499811 + Missense_Mutation SNP T C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr2:1499811T>C uc002qww.2 + 12 2148 c.2057T>C c.(2056-2058)CTG>CCG p.L686P TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.L629P|TPO_uc002qwr.2_Missense_Mutation_p.L686P|TPO_uc002qwx.2_Missense_Mutation_p.L629P|TPO_uc010yio.1_Missense_Mutation_p.L513P|TPO_uc010yip.1_Missense_Mutation_p.L686P|TPO_uc002qwy.1_Missense_Mutation_p.L26P|TPO_uc002qwz.2_Intron NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 686 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) AGGCGTGAGCTGGAGAAGCAC 0.562 12 22 --- --- --- --- PASS LTBP1 4052 broad.mit.edu 37 2 33487888 33487888 + Missense_Mutation SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr2:33487888G>A uc002ros.2 + 14 2518 c.2518G>A c.(2518-2520)GGT>AGT p.G840S LTBP1_uc002rot.2_Missense_Mutation_p.G514S|LTBP1_uc002rou.2_Missense_Mutation_p.V514I|LTBP1_uc002rov.2_Missense_Mutation_p.V461I|LTBP1_uc010ymz.1_Missense_Mutation_p.V514I|LTBP1_uc010yna.1_Missense_Mutation_p.V461I NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) ACAGTTTCCAGGTAGCCTGTG 0.403 31 75 --- --- --- --- PASS REG3A 5068 broad.mit.edu 37 2 79385460 79385460 + Missense_Mutation SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr2:79385460G>T uc002sod.1 - 3 580 c.325C>A c.(325-327)CCC>ACC p.P109T REG3A_uc002soe.1_Missense_Mutation_p.P109T|REG3A_uc002sof.1_Missense_Mutation_p.P109T NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 109 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 ACCTGTGTGGGGTCATGGAGC 0.572 25 31 --- --- --- --- PASS TEKT4 150483 broad.mit.edu 37 2 95537563 95537563 + Missense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr2:95537563C>A uc002stw.1 + 1 332 c.239C>A c.(238-240)GCG>GAG p.A80E uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA NM_144705 NP_653306 Q8WW24 TEKT4_HUMAN tektin 4 80 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|breast(1)|skin(1) 3 CAGGCGCTGGCGCAGCGCACG 0.682 10 33 --- --- --- --- PASS UXS1 80146 broad.mit.edu 37 2 106761798 106761798 + Missense_Mutation SNP G C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr2:106761798G>C uc002tdm.2 - 6 403 c.305C>G c.(304-306)TCC>TGC p.S102C UXS1_uc002tdn.2_Missense_Mutation_p.S107C|UXS1_uc002tdo.2_Missense_Mutation_p.S45C|UXS1_uc010ywh.1_Intron NM_025076 NP_079352 Q8NBZ7 UXS1_HUMAN UDP-glucuronate decarboxylase 1 102 Lumenal (Potential). cellular metabolic process Golgi cisterna membrane|integral to membrane coenzyme binding|UDP-glucuronate decarboxylase activity ovary(2) 2 AGTTAGATGGGAGCCCACGAA 0.552 15 31 --- --- --- --- PASS PTPN18 26469 broad.mit.edu 37 2 131116818 131116818 + Missense_Mutation SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr2:131116818G>A uc002trc.2 + 3 316 c.215G>A c.(214-216)CGA>CAA p.R72Q PTPN18_uc002trd.2_Missense_Mutation_p.R72Q|PTPN18_uc002trb.2_Intron NM_014369 NP_055184 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 72 Tyrosine-protein phosphatase. cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity ovary(3)|kidney(1) 4 Colorectal(110;0.1) GATCAGACGCGAGTAATCCTC 0.562 42 72 --- --- --- --- PASS MCM6 4175 broad.mit.edu 37 2 136633875 136633875 + Missense_Mutation SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr2:136633875C>T uc002tuw.2 - 1 137 c.61G>A c.(61-63)GAG>AAG p.E21K NM_005915 NP_005906 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 21 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding 0 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) TCGGCCACCTCGTCGCGGACC 0.697 31 49 --- --- --- --- PASS FAP 2191 broad.mit.edu 37 2 163083088 163083088 + Missense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr2:163083088C>A uc002ucd.2 - 3 343 c.135G>T c.(133-135)AAG>AAT p.K45N FAP_uc010zct.1_Missense_Mutation_p.K45N|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Intron NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 45 Extracellular (Potential). endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity ovary(3) 3 TTAAAATATCCTTCAGTGTGA 0.289 20 49 --- --- --- --- PASS SCN9A 6335 broad.mit.edu 37 2 167094728 167094728 + Missense_Mutation SNP A T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr2:167094728A>T uc010fpl.2 - 20 3985 c.3644T>A c.(3643-3645)CTG>CAG p.L1215Q uc002udp.2_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1226 Helical; Name=S2 of repeat III; (Potential).|III. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) TGCATACTCCAGGATAATCTT 0.323 10 17 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179477683 179477683 + Missense_Mutation SNP C G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr2:179477683C>G uc010zfg.1 - 214 42285 c.42061G>C c.(42061-42063)GAA>CAA p.E14021Q uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E7716Q|TTN_uc010zfi.1_Missense_Mutation_p.E7649Q|TTN_uc010zfj.1_Missense_Mutation_p.E7524Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14948 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) TTCAGCATTTCAATGACATAA 0.463 26 49 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179606388 179606388 + Missense_Mutation SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr2:179606388C>T uc010zfh.1 - 46 11283 c.11059G>A c.(11059-11061)GTG>ATG p.V3687M TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.V3620M|TTN_uc010zfj.1_Missense_Mutation_p.V3495M|TTN_uc002umz.1_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) GTTAATAGCACTCCATTAAAG 0.418 56 119 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 186680145 186680145 + RNA SNP C G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr2:186680145C>G uc002upm.2 + 3 c.3455C>G uc010zfu.1_Missense_Mutation_p.H1289Q Homo sapiens cDNA FLJ44048 fis, clone TESTI4030669. ACTTCATACACAGAATTATGA 0.308 24 52 --- --- --- --- PASS COL3A1 1281 broad.mit.edu 37 2 189876374 189876374 + Missense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr2:189876374C>A uc002uqj.1 + 51 4392 c.4275C>A c.(4273-4275)AGC>AGA p.S1425R NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 1425 Fibrillar collagen NC1. 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) GGGAATGGAGCAAAACAGTCT 0.383 28 53 --- --- --- --- PASS MYO1B 4430 broad.mit.edu 37 2 192248021 192248021 + Missense_Mutation SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr2:192248021C>T uc010fsg.2 + 15 1561 c.1306C>T c.(1306-1308)CAC>TAC p.H436Y MYO1B_uc002usq.2_Missense_Mutation_p.H436Y|MYO1B_uc002usr.2_Missense_Mutation_p.H436Y|MYO1B_uc002ust.1_Missense_Mutation_p.H74Y NM_001130158 NP_001123630 O43795 MYO1B_HUMAN myosin IB isoform 1 436 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(5)|large_intestine(2)|ovary(1) 8 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) AGAATGGACTCACATTGACTA 0.338 13 37 --- --- --- --- PASS PLCL1 5334 broad.mit.edu 37 2 198950160 198950160 + Nonsense_Mutation SNP C G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr2:198950160C>G uc010fsp.2 + 2 2210 c.1919C>G c.(1918-1920)TCA>TGA p.S640* PLCL1_uc002uuv.3_Nonsense_Mutation_p.S561* 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; 640 PI-PLC Y-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) AAGTTCTTATCAAGAATCTAT 0.378 26 32 --- --- --- --- PASS ALS2CR4 65062 broad.mit.edu 37 2 202501504 202501504 + Nonsense_Mutation SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr2:202501504G>A uc002uyh.1 - 6 342 c.241C>T c.(241-243)CAA>TAA p.Q81* ALS2CR4_uc002uyg.1_Nonsense_Mutation_p.Q73*|ALS2CR4_uc010zhp.1_RNA NM_001044385 NP_001037850 Q96Q45 TM237_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 105 integral to membrane protein binding 0 TGTCTTCTTTGAACAGGAGCC 0.448 6 12 --- --- --- --- PASS FN1 2335 broad.mit.edu 37 2 216248165 216248165 + Missense_Mutation SNP C G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr2:216248165C>G uc002vfa.2 - 31 5202 c.4936G>C c.(4936-4938)GAC>CAC p.D1646H FN1_uc002vfb.2_Missense_Mutation_p.D1555H|FN1_uc002vfc.2_Missense_Mutation_p.D1555H|FN1_uc002vfd.2_Missense_Mutation_p.D1646H|FN1_uc002vfe.2_Missense_Mutation_p.D1555H|FN1_uc002vff.2_Missense_Mutation_p.D1555H|FN1_uc002vfg.2_Missense_Mutation_p.D1555H|FN1_uc002vfh.2_Missense_Mutation_p.D1555H|FN1_uc002vfi.2_Missense_Mutation_p.D1646H|FN1_uc002vfj.2_Missense_Mutation_p.D1646H|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Missense_Mutation_p.D273H|FN1_uc010fvc.1_Missense_Mutation_p.D8H|FN1_uc010fvd.1_Missense_Mutation_p.D8H 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) ATGCTGTTGTCCTGAACATCG 0.458 73 121 --- --- --- --- PASS CCDC108 255101 broad.mit.edu 37 2 219903729 219903729 + Silent SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr2:219903729C>T uc002vjl.1 - 3 126 c.42G>A c.(40-42)CAG>CAA p.Q14Q CCDC108_uc010zkp.1_Intron|CCDC108_uc010zkq.1_Intron|CCDC108_uc002vjn.2_Intron NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 14 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) TCTCCACCTTCTGGGTTTTCT 0.433 27 50 --- --- --- --- PASS KIAA1486 57624 broad.mit.edu 37 2 226447508 226447508 + Missense_Mutation SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr2:226447508G>A uc002voe.2 + 4 1550 c.1375G>A c.(1375-1377)GCT>ACT p.A459T KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.A229T NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 459 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) CCCTTACGACGCTGTGCATTC 0.627 4 72 --- --- --- --- PASS TRIP12 9320 broad.mit.edu 37 2 230643175 230643175 + Missense_Mutation SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr2:230643175C>T uc002vpw.1 - 35 5222 c.5113G>A c.(5113-5115)GCC>ACC p.A1705T TRIP12_uc002vpx.1_Missense_Mutation_p.A1753T|TRIP12_uc002vpy.1_Missense_Mutation_p.A1435T NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1705 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) ATAGCCTTGGCCATTAATTTT 0.438 42 105 --- --- --- --- PASS NEU2 4759 broad.mit.edu 37 2 233899701 233899701 + Silent SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr2:233899701C>T uc010zmn.1 + 2 1077 c.1077C>T c.(1075-1077)TAC>TAT p.Y359Y NM_005383 NP_005374 Q9Y3R4 NEUR2_HUMAN neuraminidase 2 359 exo-alpha-sialidase activity 0 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) CCAATGATTACGAGGAGATTG 0.577 89 170 --- --- --- --- PASS GALNTL2 117248 broad.mit.edu 37 3 16242202 16242202 + Silent SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr3:16242202G>T uc003car.3 + 3 1258 c.783G>T c.(781-783)CTG>CTT p.L261L GALNTL2_uc003caq.3_5'UTR NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 261 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1) 1 ACAAGAGGCTGGGTGCCATCA 0.612 3 41 --- --- --- --- PASS APEH 327 broad.mit.edu 37 3 49713631 49713631 + Silent SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr3:49713631G>A uc003cxf.2 + 6 985 c.585G>A c.(583-585)AAG>AAA p.K195K APEH_uc010hkw.1_Silent_p.K195K NM_001640 NP_001631 P13798 ACPH_HUMAN N-acylaminoacyl-peptide hydrolase 195 proteolysis cytoplasm|nuclear membrane serine-type endopeptidase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCAGGCTGAAGAAGCCAGACC 0.582 24 15 --- --- --- --- PASS HEG1 57493 broad.mit.edu 37 3 124746086 124746086 + Silent SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr3:124746086C>T uc003ehs.3 - 3 944 c.876G>A c.(874-876)AGG>AGA p.R292R HEG1_uc011bke.1_Silent_p.R292R NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN HEG homolog 1 precursor 292 Extracellular (Potential). extracellular region|integral to membrane calcium ion binding ovary(2) 2 AAGCTGCTGTCCTGTAGAAAT 0.498 10 31 --- --- --- --- PASS SCHIP1 29970 broad.mit.edu 37 3 159482463 159482463 + Missense_Mutation SNP G C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr3:159482463G>C uc003fcs.1 + 2 361 c.295G>C c.(295-297)GAG>CAG p.E99Q SCHIP1_uc003fcq.1_Missense_Mutation_p.E175Q|SCHIP1_uc003fcr.1_Missense_Mutation_p.E88Q|SCHIP1_uc003fct.1_Missense_Mutation_p.E99Q|SCHIP1_uc010hvz.1_Missense_Mutation_p.E72Q NM_014575 NP_055390 Q9P0W5 SCHI1_HUMAN schwannomin interacting protein 1 99 Poly-Glu. cytoplasm identical protein binding|protein binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534) ggaggacggggaggaggagga 0.552 10 12 --- --- --- --- PASS SLC2A2 6514 broad.mit.edu 37 3 170716076 170716076 + Missense_Mutation SNP A G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr3:170716076A>G uc003fhe.1 - 10 1589 c.1280T>C c.(1279-1281)TTC>TCC p.F427S SLC2A2_uc003fhf.1_Missense_Mutation_p.F254S|SLC2A2_uc011bpu.1_Missense_Mutation_p.F300S NM_000340 NP_000331 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose 427 Cytoplasmic (Potential). carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) TCCTTGACTGAAAAACTCAGC 0.473 33 156 --- --- --- --- PASS MUC4 4585 broad.mit.edu 37 3 195477899 195477899 + Silent SNP G C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr3:195477899G>C uc011bto.1 - 24 15808 c.15348C>G c.(15346-15348)GTC>GTG p.V5116V MUC4_uc010hzq.2_Silent_p.V101V|MUC4_uc003fuz.2_Silent_p.V842V|MUC4_uc003fva.2_Silent_p.V724V|MUC4_uc003fvb.2_Silent_p.V760V|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Silent_p.V760V|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Silent_p.V724V|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.V808V|MUC4_uc011bti.1_Silent_p.V808V|MUC4_uc011btj.1_Silent_p.V985V|MUC4_uc011btk.1_Silent_p.V724V|MUC4_uc011btl.1_Silent_p.V753V|MUC4_uc011btm.1_Silent_p.V933V|MUC4_uc011btn.1_Silent_p.V724V|MUC4_uc003fvo.2_Silent_p.V1008V|MUC4_uc003fvp.2_Silent_p.V957V NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 2001 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) GGAAGTCAATGACCGGGCCCC 0.622 20 93 --- --- --- --- PASS IGFBP7 3490 broad.mit.edu 37 4 57907042 57907042 + Missense_Mutation SNP T C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr4:57907042T>C uc003hcn.2 - 2 555 c.533A>G c.(532-534)TAC>TGC p.Y178C IGFBP7_uc011cag.1_Missense_Mutation_p.Y178C NM_001553 NP_001544 Q16270 IBP7_HUMAN insulin-like growth factor binding protein 7 178 Ig-like C2-type. cell adhesion|negative regulation of cell proliferation|regulation of cell growth extracellular space insulin-like growth factor binding lung(2)|central_nervous_system(1) 3 Glioma(25;0.08)|all_neural(26;0.181) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACAGCTCAAGTACACCTGGGC 0.517 37 15 --- --- --- --- PASS ADH4 127 broad.mit.edu 37 4 100057789 100057789 + Missense_Mutation SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr4:100057789G>T uc003hun.2 - 5 486 c.410C>A c.(409-411)ACC>AAC p.T137N uc003hum.1_Intron|ADH4_uc011ced.1_Missense_Mutation_p.T156N NM_000670 NP_000661 P08319 ADH4_HUMAN class II alcohol dehydrogenase, pi subunit 137 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding skin(2) 2 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) TCCTTTGCAGGTAAACCTGCT 0.353 29 18 --- --- --- --- PASS SCLT1 132320 broad.mit.edu 37 4 129880756 129880756 + Missense_Mutation SNP T A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr4:129880756T>A uc003igp.2 - 12 1552 c.1046A>T c.(1045-1047)CAG>CTG p.Q349L SCLT1_uc003ign.2_Missense_Mutation_p.Q13L|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron NM_144643 NP_653244 Q96NL6 SCLT1_HUMAN sodium channel associated protein 1 349 Potential. centrosome ovary(3)|lung(1)|central_nervous_system(1) 5 CTTTCTTACCTGACTTTTTTG 0.338 27 24 --- --- --- --- PASS TLL1 7092 broad.mit.edu 37 4 166929130 166929130 + Missense_Mutation SNP G C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr4:166929130G>C uc003irh.1 + 7 1494 c.847G>C c.(847-849)GAA>CAA p.E283Q TLL1_uc011cjn.1_Missense_Mutation_p.E283Q|TLL1_uc011cjo.1_Missense_Mutation_p.E107Q NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 283 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GGAGCCTGGAGAAGTAAACTC 0.408 32 23 --- --- --- --- PASS GPM6A 2823 broad.mit.edu 37 4 176561965 176561965 + Missense_Mutation SNP C G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr4:176561965C>G uc003iuf.2 - 5 1361 c.557G>C c.(556-558)GGA>GCA p.G186A GPM6A_uc011ckj.1_Missense_Mutation_p.G179A|GPM6A_uc003iug.2_Missense_Mutation_p.G186A|GPM6A_uc003iuh.2_Missense_Mutation_p.G175A NM_201591 NP_963885 P51674 GPM6A_HUMAN glycoprotein M6A isoform 2 186 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) CTTTTCCTCTCCAATTGTCAC 0.333 13 10 --- --- --- --- PASS WDR17 116966 broad.mit.edu 37 4 177056260 177056260 + Missense_Mutation SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr4:177056260G>A uc003iuj.2 + 9 1328 c.1172G>A c.(1171-1173)GGA>GAA p.G391E WDR17_uc003iuk.2_Missense_Mutation_p.G367E|WDR17_uc003ium.3_Missense_Mutation_p.G367E|WDR17_uc003iul.1_Intron NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 391 WD 6. 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) TATTCCTAGGGACATGTGGAA 0.328 45 32 --- --- --- --- PASS IRX4 50805 broad.mit.edu 37 5 1878381 1878381 + Missense_Mutation SNP G C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr5:1878381G>C uc003jcz.2 - 5 1381 c.1262C>G c.(1261-1263)TCT>TGT p.S421C IRX4_uc011cmf.1_Missense_Mutation_p.S282C NM_016358 NP_057442 P78413 IRX4_HUMAN iroquois homeobox 4 421 heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(108;0.242) CAGGGCGCCAGAGTGGGGAAG 0.662 5 15 --- --- --- --- PASS EGFLAM 133584 broad.mit.edu 37 5 38435307 38435307 + Silent SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr5:38435307G>T uc003jlc.1 + 16 2559 c.2235G>T c.(2233-2235)GTG>GTT p.V745V EGFLAM_uc003jlb.1_Silent_p.V745V|EGFLAM_uc003jle.1_Silent_p.V511V|EGFLAM_uc003jlf.1_Silent_p.V111V NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 745 Laminin G-like 2. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) ATGATGATGTGAAGAAGAACT 0.463 32 99 --- --- --- --- PASS FYB 2533 broad.mit.edu 37 5 39202020 39202020 + Missense_Mutation SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr5:39202020G>A uc003jls.2 - 1 1110 c.1043C>T c.(1042-1044)CCT>CTT p.P348L FYB_uc003jlt.2_Missense_Mutation_p.P348L|FYB_uc003jlu.2_Missense_Mutation_p.P348L|FYB_uc011cpl.1_Missense_Mutation_p.P358L NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 348 Interaction with SKAP1. cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) AAACAAGGGAGGCAATGGCTT 0.512 32 95 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41007490 41007490 + Silent SNP A T T rs145454293 by1000genomes TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr5:41007490A>T uc003jmj.3 - 34 4165 c.3675T>A c.(3673-3675)TCT>TCA p.S1225S HEATR7B2_uc003jmi.3_Silent_p.S780S NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1225 binding ovary(6)|central_nervous_system(2) 8 CCCCCTCATCAGATTCCTTTG 0.448 3 14 --- --- --- --- PASS CCL28 56477 broad.mit.edu 37 5 43382071 43382071 + Missense_Mutation SNP T A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr5:43382071T>A uc003jnu.2 - 3 345 c.275A>T c.(274-276)AAA>ATA p.K92I CCL28_uc003jns.2_RNA|CCL28_uc003jnt.2_RNA|CCL28_uc010ivn.2_Missense_Mutation_p.K45I NM_148672 NP_683513 Q9NRJ3 CCL28_HUMAN chemokine (C-C motif) ligand 28 precursor 92 chemotaxis|immune response extracellular space chemokine activity ovary(1)|kidney(1) 2 TTTACCATTTTTCTTGGCAGC 0.458 78 194 --- --- --- --- PASS NNT 23530 broad.mit.edu 37 5 43649385 43649385 + Silent SNP G C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr5:43649385G>C uc003joe.2 + 11 1836 c.1581G>C c.(1579-1581)CTG>CTC p.L527L NNT_uc003jof.2_Silent_p.L527L NM_012343 NP_036475 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 527 Helical; (Potential). 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) ACTCACCACTGATGTCTGTGA 0.488 93 319 --- --- --- --- PASS CHD1 1105 broad.mit.edu 37 5 98234111 98234111 + Missense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr5:98234111C>A uc003knf.2 - 9 1362 c.1214G>T c.(1213-1215)GGT>GTT p.G405V NM_001270 NP_001261 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 405 Chromo 2. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) ATCAGGATAACCAGCTGCTGA 0.358 20 8 --- --- --- --- PASS P4HA2 8974 broad.mit.edu 37 5 131553476 131553476 + Missense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr5:131553476C>A uc003kwh.2 - 3 712 c.148G>T c.(148-150)GTG>TTG p.V50L P4HA2_uc003kwg.2_Missense_Mutation_p.V50L|P4HA2_uc003kwi.2_Missense_Mutation_p.V50L|P4HA2_uc003kwk.2_Missense_Mutation_p.V50L|P4HA2_uc003kwl.2_Missense_Mutation_p.V50L|P4HA2_uc003kwj.2_Missense_Mutation_p.V50L NM_004199 NP_004190 O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha II subunit isoform 1 50 endoplasmic reticulum lumen electron carrier activity|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|protein binding 0 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) GCTTCCTCCACAAGGATGTAC 0.498 57 39 --- --- --- --- PASS PCDHGC3 5098 broad.mit.edu 37 5 140857271 140857271 + Silent SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr5:140857271C>A uc003lkv.1 + 1 1703 c.1588C>A c.(1588-1590)CGG>AGG p.R530R 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_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Silent_p.R530R|PCDHGC3_uc003lkw.1_Intron NM_002588 NP_002579 Q9UN70 PCDGK_HUMAN protocadherin gamma subfamily C, 3 isoform 1 530 Cadherin 5.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTATGAGGATCGGCGGGAATT 0.493 3 45 --- --- --- --- PASS FAM71B 153745 broad.mit.edu 37 5 156592581 156592581 + Missense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr5:156592581C>A uc003lwn.2 - 1 699 c.599G>T c.(598-600)AGC>ATC p.S200I NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 200 nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TACCACTAGGCTTTTGTTGTC 0.517 127 114 --- --- --- --- PASS NIPAL4 348938 broad.mit.edu 37 5 156890110 156890110 + Missense_Mutation SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr5:156890110C>T uc003lwx.3 + 2 348 c.232C>T c.(232-234)CTC>TTC p.L78F ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.L78F|NIPAL4_uc010jin.1_Silent_p.C12C NM_001099287 NP_001092757 Q0D2K0 NIPA4_HUMAN ichthyin protein 78 Extracellular (Potential). integral to membrane receptor activity 0 AGGTTCCCTGCTCCACCTCTA 0.517 30 24 --- --- --- --- PASS ODZ2 57451 broad.mit.edu 37 5 167673951 167673951 + Missense_Mutation SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr5:167673951G>A uc010jjd.2 + 27 5980 c.5980G>A c.(5980-5982)GAC>AAC p.D1994N ODZ2_uc003lzr.3_Missense_Mutation_p.D1764N|ODZ2_uc003lzt.3_Missense_Mutation_p.D1367N|ODZ2_uc010jje.2_Missense_Mutation_p.D1258N NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) CTACAGTGATGACGGCCGCAT 0.512 35 33 --- --- --- --- PASS NSD1 64324 broad.mit.edu 37 5 176710800 176710800 + Missense_Mutation SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr5:176710800G>A uc003mfr.3 + 20 6160 c.6022G>A c.(6022-6024)GAT>AAT p.D2008N NSD1_uc003mft.3_Missense_Mutation_p.D1739N|NSD1_uc011dfx.1_Missense_Mutation_p.D1656N NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 2008 SET. 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) CCGAATCATTGATGCTGGTCC 0.438 T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 52 37 --- --- --- --- PASS PRELID1 27166 broad.mit.edu 37 5 176733505 176733505 + Missense_Mutation SNP G C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr5:176733505G>C uc003mfx.2 + 5 746 c.594G>C c.(592-594)GAG>GAC p.E198D RAB24_uc003mfu.2_5'Flank|RAB24_uc003mfv.2_5'Flank|RAB24_uc003mfw.2_5'Flank|PRELID1_uc003mfy.2_Missense_Mutation_p.E196D|MXD3_uc010jkk.2_3'UTR NM_013237 NP_037369 Q9Y255 PRLD1_HUMAN PRELI domain containing 1 precursor 198 immune response|multicellular organismal development mitochondrion|nucleus 0 all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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) CAGCTACAGAGAAGGCCAAGG 0.592 12 6 --- --- --- --- PASS HIST1H2AA 221613 broad.mit.edu 37 6 25726721 25726721 + Missense_Mutation SNP C G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr6:25726721C>G uc003nfc.2 - 1 70 c.35G>C c.(34-36)CGC>CCC p.R12P HIST1H2BA_uc003nfd.2_5'Flank NM_170745 NP_734466 Q96QV6 H2A1A_HUMAN histone cluster 1, H2aa 12 nucleosome assembly nucleosome|nucleus DNA binding 0 AGACTTGGCGCGTGCTTTTCC 0.527 39 66 --- --- --- --- PASS SLC17A4 10050 broad.mit.edu 37 6 25777088 25777088 + Missense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr6:25777088C>A uc003nfe.2 + 10 1288 c.1169C>A c.(1168-1170)TCC>TAC p.S390Y SLC17A4_uc011djx.1_Missense_Mutation_p.S160Y|SLC17A4_uc003nff.1_Missense_Mutation_p.S179Y|SLC17A4_uc003nfg.2_Missense_Mutation_p.S327Y|SLC17A4_uc010jqa.2_Intron NM_005495 NP_005486 Q9Y2C5 S17A4_HUMAN solute carrier family 17 (sodium phosphate), 390 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity skin(1) 1 TGGGTCAGATCCAGCCACAGC 0.542 81 110 --- --- --- --- PASS SLC17A2 10246 broad.mit.edu 37 6 25918760 25918760 + Missense_Mutation SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr6:25918760G>T uc011dkb.1 - 5 687 c.604C>A c.(604-606)CTA>ATA p.L202I SLC17A2_uc011dkc.1_Missense_Mutation_p.L202I|SLC17A2_uc003nfl.2_Missense_Mutation_p.L202I O00624 NPT3_HUMAN SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2; 202 Helical; (Potential). phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity ovary(1) 1 TGTGAGATTAGTCCCCCCACA 0.443 44 78 --- --- --- --- PASS HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A G G rs41559716 TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr6:29910693A>G uc003nol.2 + 2 233 c.233A>G c.(232-234)CAG>CGG p.Q78R HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Missense_Mutation_p.Q78R|HLA-A_uc003noo.2_Missense_Mutation_p.Q78R|HLA-A_uc010jrr.2_Missense_Mutation_p.Q78R|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Missense_Mutation_p.Q50R|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank NM_002116 NP_002107 P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Extracellular (Potential).|Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 TGGATAGAGCAGGAGGGGCCG 0.657 Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of Multiple Myeloma(9;0.094) 5 28 --- --- --- --- PASS CFB 629 broad.mit.edu 37 6 31918167 31918167 + Silent SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr6:31918167C>A uc003nyj.3 + 12 1889 c.1611C>A c.(1609-1611)ATC>ATA p.I537I CFB_uc011dor.1_Silent_p.I1039I|CFB_uc003nyi.2_Silent_p.I537I NM_001710 NP_001701 P00751 CFAB_HUMAN complement factor B preproprotein 537 Peptidase S1. I -> T (in Ref. 13; AAA36219). complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity skin(1) 1 AACACTCAATCAAGGTCAGCG 0.517 38 63 --- --- --- --- PASS HLA-DRB5 3127 broad.mit.edu 37 6 32497911 32497911 + Missense_Mutation SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr6:32497911C>T uc003obj.2 - 1 96 c.91G>A c.(91-93)GAC>AAC p.D31N HLA-DRB1_uc011dqa.1_Intron|HLA-DRB5_uc003obk.3_Intron NM_002125 NP_002116 Q30154 DRB5_HUMAN major histocompatibility complex, class II, DR 31 Beta-1.|Extracellular (Potential). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex 0 CGTCGGGTGTCCCCAGCCAAA 0.537 8 105 --- --- --- --- PASS PPARD 5467 broad.mit.edu 37 6 35392324 35392324 + Silent SNP C G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr6:35392324C>G uc003okm.2 + 7 1155 c.846C>G c.(844-846)CTC>CTG p.L282L PPARD_uc003okl.2_Silent_p.L282L|PPARD_uc003okn.2_Silent_p.L282L|PPARD_uc011dtb.1_Silent_p.L243L|PPARD_uc011dtc.1_Silent_p.L184L NM_006238 NP_006229 Q03181 PPARD_HUMAN peroxisome proliferative activated receptor, 282 Ligand-binding. apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1) 1 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) TTACCCTTCTCAAGTATGGCG 0.597 19 36 --- --- --- --- PASS KLC4 89953 broad.mit.edu 37 6 43040698 43040698 + Missense_Mutation SNP C G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr6:43040698C>G uc003otv.1 + 13 1702 c.1625C>G c.(1624-1626)TCC>TGC p.S542C KLC4_uc003otr.1_RNA|KLC4_uc011dvd.1_Missense_Mutation_p.S465C|KLC4_uc003otw.1_Missense_Mutation_p.S560C|KLC4_uc003otx.1_Missense_Mutation_p.S542C|KLC4_uc003oty.1_Missense_Mutation_p.S542C|KLC4_uc003otz.1_Missense_Mutation_p.S542C NM_201521 NP_958929 Q9NSK0 KLC4_HUMAN kinesin-like 8 isoform a 542 cytoplasm|kinesin complex|microtubule microtubule motor activity|protein binding skin(3)|ovary(1) 4 all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453) GTGGAGTGGTCCGGGGTAAGT 0.557 45 63 --- --- --- --- PASS GPR116 221395 broad.mit.edu 37 6 46826856 46826856 + Silent SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr6:46826856G>A uc003oyo.3 - 17 3073 c.2784C>T c.(2782-2784)GTC>GTT p.V928V GPR116_uc011dwj.1_Silent_p.V483V|GPR116_uc011dwk.1_Silent_p.V357V|GPR116_uc003oyp.3_Silent_p.V786V|GPR116_uc003oyq.3_Silent_p.V928V|GPR116_uc010jzi.1_Silent_p.V600V NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 928 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) TATTGTGGCTGACAGTGGTTG 0.458 56 91 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51491841 51491841 + Silent SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr6:51491841G>T uc003pah.1 - 66 12015 c.11739C>A c.(11737-11739)CGC>CGA p.R3913R NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3913 Cytoplasmic (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) GTGATTCTCGGCGTTTGGATG 0.438 64 103 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51909846 51909846 + Missense_Mutation SNP G C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr6:51909846G>C uc003pah.1 - 25 2909 c.2633C>G c.(2632-2634)GCC>GGC p.A878G PKHD1_uc003pai.2_Missense_Mutation_p.A878G NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 878 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) CACACGCGTGGCTGCAGCAGG 0.453 32 34 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51936933 51936933 + Missense_Mutation SNP T C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr6:51936933T>C uc003pah.1 - 8 858 c.582A>G c.(580-582)ATA>ATG p.I194M PKHD1_uc003pai.2_Missense_Mutation_p.I194M NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 194 IPT/TIG 2.|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) TCTGCCTATTTATAAGAGAGC 0.398 34 56 --- --- --- --- PASS BAI3 577 broad.mit.edu 37 6 69759194 69759194 + Silent SNP C T T rs146898809 TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr6:69759194C>T uc003pev.3 + 15 2737 c.2289C>T c.(2287-2289)GGC>GGT p.G763G BAI3_uc010kak.2_Silent_p.G763G NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 763 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) TTGTTCTTGGCGCAGTCCTAT 0.274 18 63 --- --- --- --- PASS LCA5 167691 broad.mit.edu 37 6 80228525 80228525 + Silent SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr6:80228525C>T uc003pix.2 - 2 522 c.87G>A c.(85-87)ACG>ACA p.T29T LCA5_uc003piy.2_Silent_p.T29T|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Silent_p.T29T NM_001122769 NP_001116241 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 29 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) AAGACTGTGGCGTTTCAAAAT 0.423 94 170 --- --- --- --- PASS KIAA1009 22832 broad.mit.edu 37 6 84862712 84862712 + Missense_Mutation SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr6:84862712C>T uc010kbp.2 - 23 3278 c.3181G>A c.(3181-3183)GTC>ATC p.V1061I KIAA1009_uc003pkj.3_Missense_Mutation_p.V985I|KIAA1009_uc003pki.3_Missense_Mutation_p.V447I NM_014895 NP_055710 Q5TB80 QN1_HUMAN KIAA1009 protein 1061 Potential. cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding ovary(1) 1 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) TTTTTCTTGACGTCTAATTCA 0.368 37 58 --- --- --- --- PASS ASCC3 10973 broad.mit.edu 37 6 100988080 100988080 + Missense_Mutation SNP C G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr6:100988080C>G uc003pqk.2 - 37 6063 c.5734G>C c.(5734-5736)GAT>CAT p.D1912H NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 1912 SEC63 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) GTTTTGGTATCAGTGTCATAA 0.453 36 51 --- --- --- --- PASS DDO 8528 broad.mit.edu 37 6 110734551 110734551 + Missense_Mutation SNP T G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr6:110734551T>G uc003puc.2 - 2 203 c.199A>C c.(199-201)ACT>CCT p.T67P C6orf186_uc003pub.2_5'Flank|DDO_uc003pud.2_Missense_Mutation_p.T67P NM_003649 NP_003640 Q99489 OXDD_HUMAN D-aspartate oxidase isoform a 39 aspartate catabolic process peroxisome binding|D-amino-acid oxidase activity|D-aspartate oxidase activity ovary(2)|breast(1) 3 all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327) all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046) GTATCTGGAGTAAACTTGTCT 0.507 67 112 --- --- --- --- PASS CLVS2 134829 broad.mit.edu 37 6 123377054 123377054 + Missense_Mutation SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr6:123377054C>T uc003pzi.1 + 5 1648 c.779C>T c.(778-780)ACA>ATA p.T260I NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN retinaldehyde binding protein 1-like 2 260 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 GACATGGGGACATGGGCAAGA 0.468 41 72 --- --- --- --- PASS MED23 9439 broad.mit.edu 37 6 131912582 131912582 + Missense_Mutation SNP T A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr6:131912582T>A uc003qcs.1 - 26 3731 c.3557A>T c.(3556-3558)TAT>TTT p.Y1186F MED23_uc003qcq.2_Missense_Mutation_p.Y1192F|MED23_uc003qcr.1_Missense_Mutation_p.Y41F NM_004830 NP_004821 Q9ULK4 MED23_HUMAN mediator complex subunit 23 isoform a 1186 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) GCGGAATGGATAGCCAACCCA 0.468 36 54 --- --- --- --- PASS TAAR5 9038 broad.mit.edu 37 6 132910358 132910358 + Silent SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr6:132910358C>A uc003qdk.2 - 1 520 c.468G>T c.(466-468)CTG>CTT p.L156L NM_003967 NP_003958 O14804 TAAR5_HUMAN trace amine associated receptor 5 156 Helical; Name=4; (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity skin(1) 1 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) CCCATCCTGCCAGGATGTACC 0.547 29 48 --- --- --- --- PASS EYA4 2070 broad.mit.edu 37 6 133783797 133783797 + Missense_Mutation SNP G C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr6:133783797G>C uc003qec.3 + 9 1077 c.619G>C c.(619-621)GGA>CGA p.G207R EYA4_uc011ecq.1_Missense_Mutation_p.G153R|EYA4_uc011ecr.1_Missense_Mutation_p.G153R|EYA4_uc003qed.3_Missense_Mutation_p.G207R|EYA4_uc003qee.3_Missense_Mutation_p.G184R|EYA4_uc011ecs.1_Missense_Mutation_p.G207R|uc003qef.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a 207 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) GACAGAGAGTGGACTTTCCCA 0.438 34 53 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152576052 152576052 + Missense_Mutation SNP T A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr6:152576052T>A uc010kiw.2 - 104 20035 c.19433A>T c.(19432-19434)CAG>CTG p.Q6478L SYNE1_uc010kiv.2_Missense_Mutation_p.Q1002L|SYNE1_uc003qos.3_Missense_Mutation_p.Q1002L|SYNE1_uc003qot.3_Missense_Mutation_p.Q6407L|SYNE1_uc003qou.3_Missense_Mutation_p.Q6478L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6478 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) TTCTTTCATCTGATGACATCG 0.373 HNSCC(10;0.0054) 9 40 --- --- --- --- PASS FBXL18 80028 broad.mit.edu 37 7 5540470 5540470 + Missense_Mutation SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr7:5540470G>A uc003soo.2 - 3 1524 c.1430C>T c.(1429-1431)TCT>TTT p.S477F FBXL18_uc003son.3_Missense_Mutation_p.S477F NM_024963 NP_079239 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 477 LRR 8. central_nervous_system(2)|ovary(1) 3 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) CTTCAGCAGAGACCAGAACAC 0.657 16 30 --- --- --- --- PASS HERPUD2 64224 broad.mit.edu 37 7 35673301 35673301 + Nonstop_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr7:35673301C>A uc003tet.2 - 8 2025 c.1220G>T c.(1219-1221)TGA>TTA p.*407L HERPUD2_uc003tes.3_Nonstop_Mutation_p.*407L NM_022373 NP_071768 Q9BSE4 HERP2_HUMAN HERPUD family member 2 407 response to unfolded protein integral to membrane ovary(3) 3 TTTTTCAGGTCAATTGGCAAC 0.408 42 84 --- --- --- --- PASS KIAA0895 23366 broad.mit.edu 37 7 36373699 36373699 + Nonsense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr7:36373699C>A uc003tfd.2 - 5 1123 c.1072G>T c.(1072-1074)GAG>TAG p.E358* KIAA0895_uc003tfc.2_Nonsense_Mutation_p.E345*|KIAA0895_uc011kaw.1_Nonsense_Mutation_p.E255*|KIAA0895_uc003tfb.2_Nonsense_Mutation_p.E307*|KIAA0895_uc011kax.1_Nonsense_Mutation_p.E355* NM_001100425 NP_001093895 Q8NCT3 K0895_HUMAN hypothetical protein LOC23366 isoform 1 358 0 GGCTTTAGCTCATGTTTTTTA 0.413 28 74 --- --- --- --- PASS ABCB1 5243 broad.mit.edu 37 7 87190661 87190661 + Missense_Mutation SNP T C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr7:87190661T>C uc003uiz.1 - 9 1163 c.745A>G c.(745-747)AAA>GAA p.K249E ABCB1_uc011khc.1_Missense_Mutation_p.K185E NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 249 ABC transmembrane type-1 1. 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) GCTCCAGCTTTTGCATACGCT 0.318 30 39 --- --- --- --- PASS ANKIB1 54467 broad.mit.edu 37 7 92027579 92027579 + Silent SNP A G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr7:92027579A>G uc003ulw.2 + 20 2962 c.2586A>G c.(2584-2586)TTA>TTG p.L862L ANKIB1_uc010lew.1_Silent_p.L131L NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 862 UIM. protein binding|zinc ion binding lung(1) 1 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CAATACAGTTATCACTGCAAG 0.428 30 48 --- --- --- --- PASS VGF 7425 broad.mit.edu 37 7 100807457 100807457 + Missense_Mutation SNP A C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr7:100807457A>C uc003uxx.3 - 2 886 c.668T>G c.(667-669)CTG>CGG p.L223R NM_003378 NP_003369 O15240 VGF_HUMAN VGF nerve growth factor inducible precursor 223 response to cAMP extracellular space|transport vesicle growth factor activity 0 Lung NSC(181;0.168)|all_lung(186;0.215) cgggggcggcaggggcgcgcg 0.557 17 25 --- --- --- --- PASS FOXP2 93986 broad.mit.edu 37 7 114298204 114298204 + Silent SNP A T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr7:114298204A>T uc003vhb.2 + 11 1724 c.1350A>T c.(1348-1350)CCA>CCT p.P450P FOXP2_uc003vgu.2_Intron|FOXP2_uc003vgz.2_Silent_p.P475P|FOXP2_uc003vha.2_Silent_p.P358P|FOXP2_uc011kmu.1_Silent_p.P467P|FOXP2_uc011kmv.1_Silent_p.P449P|FOXP2_uc010ljz.1_Intron|FOXP2_uc003vhe.1_Silent_p.P20P NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 450 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 CTACCACACCAACGGCCCCAG 0.532 56 76 --- --- --- --- PASS WNT16 51384 broad.mit.edu 37 7 120969747 120969747 + Silent SNP C G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr7:120969747C>G uc003vjw.2 + 2 479 c.222C>G c.(220-222)GCC>GCG p.A74A WNT16_uc003vjv.2_Silent_p.A64A|WNT16_uc010lkl.2_5'UTR NM_057168 NP_476509 Q9UBV4 WNT16_HUMAN wingless-type MMTV integration site family, 74 anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity lung(2)|ovary(2)|large_intestine(1) 5 all_neural(327;0.117) GAGAGGGCGCCCGGCTGGGCA 0.652 28 50 --- --- --- --- PASS PTPRZ1 5803 broad.mit.edu 37 7 121653575 121653575 + Missense_Mutation SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr7:121653575C>T uc003vjy.2 + 12 4870 c.4475C>T c.(4474-4476)TCA>TTA p.S1492L PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 1492 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 AGTGTATCCTCAGACAGTCAA 0.398 22 33 --- --- --- --- PASS OR2A5 393046 broad.mit.edu 37 7 143747882 143747882 + Missense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr7:143747882C>A uc011ktw.1 + 1 388 c.388C>A c.(388-390)CTG>ATG p.L130M NM_012365 NP_036497 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, 130 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Melanoma(164;0.0783) CTGCCACCCTCTGCAATATTC 0.488 89 130 --- --- --- --- PASS WDR60 55112 broad.mit.edu 37 7 158719682 158719682 + Splice_Site SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr7:158719682G>A uc003woe.3 + 20 2592 c.2434_splice c.e20-1 p.V812_splice WDR60_uc010lqv.2_Splice_Site|WDR60_uc010lqw.2_Splice_Site_p.V444_splice NM_018051 NP_060521 Q8WVS4 WDR60_HUMAN WD repeat domain 60 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) TCTGTTTTTAGGTGGTTGTTG 0.279 10 16 --- --- --- --- PASS DLGAP2 9228 broad.mit.edu 37 8 1616589 1616589 + Silent SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr8:1616589C>A uc003wpl.2 + 6 1762 c.1665C>A c.(1663-1665)ACC>ACA p.T555T DLGAP2_uc003wpm.2_Silent_p.T555T NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 634 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) AGAGCAGCACCGAATCCACCC 0.622 7 12 --- --- --- --- PASS RP1L1 94137 broad.mit.edu 37 8 10468059 10468059 + Silent SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr8:10468059G>A uc003wtc.2 - 4 3778 c.3549C>T c.(3547-3549)GAC>GAT p.D1183D NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1183 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) GGGACCCAAGGTCTGGCAGAG 0.612 20 36 --- --- --- --- PASS EPB49 2039 broad.mit.edu 37 8 21937956 21937956 + Missense_Mutation SNP G C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr8:21937956G>C uc011kyt.1 + 12 1163 c.934G>C c.(934-936)GAG>CAG p.E312Q EPB49_uc010ltl.2_Missense_Mutation_p.E312Q|EPB49_uc011kys.1_Missense_Mutation_p.E272Q|EPB49_uc010ltn.2_Missense_Mutation_p.E287Q|EPB49_uc011kyu.1_Missense_Mutation_p.E312Q|EPB49_uc011kyv.1_Missense_Mutation_p.E312Q|EPB49_uc010ltq.2_Missense_Mutation_p.E312Q NM_001114136 NP_001107608 Q08495 DEMA_HUMAN erythrocyte membrane protein band 4.9 isoform 1 312 actin filament bundle assembly|actin filament capping actin cytoskeleton|nucleus actin binding central_nervous_system(1) 1 Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631) ATCAGGGAGTGAGACTGGAAG 0.607 38 83 --- --- --- --- PASS SORBS3 10174 broad.mit.edu 37 8 22414364 22414364 + Silent SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr8:22414364C>T uc003xbv.2 + 4 697 c.357C>T c.(355-357)GTC>GTT p.V119V SORBS3_uc011kzk.1_RNA NM_005775 NP_005766 O60504 VINEX_HUMAN sorbin and SH3 domain containing 3 isoform 1 119 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) AGCGCTGGGTCAAGTACGAGG 0.657 23 33 --- --- --- --- PASS MYBL1 4603 broad.mit.edu 37 8 67476961 67476961 + Missense_Mutation SNP T C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr8:67476961T>C uc003xwj.2 - 16 2637 c.2230A>G c.(2230-2232)AGT>GGT p.S744G MYBL1_uc003xwl.2_Missense_Mutation_p.S684G|MYBL1_uc003xwk.2_Missense_Mutation_p.S683G NM_001080416 NP_001073885 P10243 MYBA_HUMAN v-myb myeloblastosis viral oncogene homolog 744 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1) 3 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) GAAGTACTACTGGTAGCTGTG 0.373 7 10 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77767214 77767214 + Missense_Mutation SNP C G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr8:77767214C>G uc003yav.2 + 10 8309 c.7922C>G c.(7921-7923)GCA>GGA p.A2641G ZFHX4_uc003yau.1_Missense_Mutation_p.A2686G|ZFHX4_uc003yaw.1_Missense_Mutation_p.A2641G NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2641 C2H2-type 17. 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) CTGTTTAAAGCAAAGTCGGCC 0.537 HNSCC(33;0.089) 33 72 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77767221 77767221 + Silent SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr8:77767221G>T uc003yav.2 + 10 8316 c.7929G>T c.(7927-7929)TCG>TCT p.S2643S ZFHX4_uc003yau.1_Silent_p.S2688S|ZFHX4_uc003yaw.1_Silent_p.S2643S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2643 C2H2-type 17. 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) AAGCAAAGTCGGCCTTAGAAA 0.552 HNSCC(33;0.089) 33 65 --- --- --- --- PASS MMP16 4325 broad.mit.edu 37 8 89179973 89179973 + Missense_Mutation SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr8:89179973G>T uc003yeb.3 - 4 916 c.634C>A c.(634-636)CCT>ACT p.P212T MMP16_uc003yec.2_Missense_Mutation_p.P212T NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 212 Extracellular (Potential). collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 CCTGGTCCAGGGAAGTAGGCA 0.438 24 49 --- --- --- --- PASS C8orf47 203111 broad.mit.edu 37 8 99101844 99101844 + Missense_Mutation SNP C G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr8:99101844C>G uc003yih.1 + 2 747 c.599C>G c.(598-600)GCT>GGT p.A200G NM_173549 NP_775820 Q6P6B1 CH047_HUMAN hypothetical protein LOC203111 200 0 Breast(36;2.31e-06) OV - Ovarian serous cystadenocarcinoma(57;0.214) CTGCAAATAGCTGGAGAGCTA 0.478 15 39 --- --- --- --- PASS VPS13B 157680 broad.mit.edu 37 8 100729551 100729551 + Nonsense_Mutation SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr8:100729551G>T uc003yiv.2 + 37 6793 c.6682G>T c.(6682-6684)GAA>TAA p.E2228* VPS13B_uc003yiw.2_Nonsense_Mutation_p.E2203* NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 2228 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) TCCAGGCCCAGAACAATCCAT 0.428 32 55 --- --- --- --- PASS VPS13B 157680 broad.mit.edu 37 8 100729569 100729569 + Missense_Mutation SNP A T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr8:100729569A>T uc003yiv.2 + 37 6811 c.6700A>T c.(6700-6702)ATA>TTA p.I2234L VPS13B_uc003yiw.2_Missense_Mutation_p.I2209L NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 2234 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) CATACCAAAAATATCCATTGA 0.418 28 45 --- --- --- --- PASS VPS13B 157680 broad.mit.edu 37 8 100732672 100732672 + Missense_Mutation SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr8:100732672G>A uc003yiv.2 + 38 6943 c.6832G>A c.(6832-6834)GAA>AAA p.E2278K VPS13B_uc003yiw.2_Missense_Mutation_p.E2253K NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 2278 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) ACAAGTTTCTGAACCAGTGCC 0.373 24 40 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110471938 110471938 + Silent SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr8:110471938C>A uc003yne.2 + 47 7223 c.7119C>A c.(7117-7119)CTC>CTA p.L2373L NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2373 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) CGGTCACACTCCCTGATGGAA 0.353 HNSCC(38;0.096) 16 34 --- --- --- --- PASS ZFAT 57623 broad.mit.edu 37 8 135524749 135524749 + Silent SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr8:135524749C>A uc003yup.2 - 14 3505 c.3330G>T c.(3328-3330)GCG>GCT p.A1110A ZFAT_uc011ljj.1_Silent_p.A229A|ZFAT_uc003yun.2_Silent_p.A1098A|ZFAT_uc003yuo.2_Silent_p.A1098A|ZFAT_uc010meh.2_Intron|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.A1098A|ZFAT_uc010mej.2_Silent_p.A1048A NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 1110 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) GGTCCTGGAGCGCGGCCACCG 0.542 76 169 --- --- --- --- PASS PTPRD 5789 broad.mit.edu 37 9 8528747 8528747 + Missense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr9:8528747C>A uc003zkk.2 - 14 1096 c.385G>T c.(385-387)GAC>TAC p.D129Y PTPRD_uc003zkp.2_Missense_Mutation_p.D129Y|PTPRD_uc003zkq.2_Missense_Mutation_p.D129Y|PTPRD_uc003zkr.2_Missense_Mutation_p.D129Y|PTPRD_uc003zks.2_Missense_Mutation_p.D129Y|PTPRD_uc003zkl.2_Missense_Mutation_p.D129Y|PTPRD_uc003zkm.2_Missense_Mutation_p.D129Y|PTPRD_uc003zkn.2_Missense_Mutation_p.D129Y|PTPRD_uc003zko.2_Missense_Mutation_p.D129Y|PTPRD_uc003zkt.1_Missense_Mutation_p.D129Y NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 129 Extracellular (Potential).|Ig-like C2-type 2. 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) GGGCCCATGTCAATGGTAGGG 0.468 TSP Lung(15;0.13) 33 22 --- --- --- --- PASS FREM1 158326 broad.mit.edu 37 9 14842451 14842451 + Missense_Mutation SNP T A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr9:14842451T>A uc003zlm.2 - 9 2191 c.1601A>T c.(1600-1602)GAG>GTG p.E534V FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 534 CSPG 3. 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) GGTCTGCCCCTCCTCCAGTTC 0.507 58 46 --- --- --- --- PASS KLF4 9314 broad.mit.edu 37 9 110250280 110250280 + Missense_Mutation SNP G C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr9:110250280G>C uc004bdh.2 - 3 989 c.368C>G c.(367-369)TCT>TGT p.S123C KLF4_uc004bdf.1_Missense_Mutation_p.S82C|KLF4_uc004bdg.2_Missense_Mutation_p.S132C NM_004235 NP_004226 O43474 KLF4_HUMAN Kruppel-like factor 4 (gut) 132 Ser-rich. fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(2)|lung(1) 3 CGACGACGAAGAGGAGGCTGA 0.667 7 1 --- --- --- --- PASS PALM2-AKAP2 445815 broad.mit.edu 37 9 112642865 112642865 + Missense_Mutation SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr9:112642865G>A uc004bei.2 + 3 353 c.161G>A c.(160-162)GGC>GAC p.G54D PALM2_uc004bef.2_Missense_Mutation_p.G56D|PALM2_uc004beg.2_Missense_Mutation_p.G56D|PALM2_uc004beh.3_Missense_Mutation_p.G54D|PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.G54D|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.G54D|PALM2-AKAP2_uc004bel.1_5'UTR NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 Error:Variant_position_missing_in_Q9Y2D5_after_alignment enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 CTGCTGCAGGGCATACCCGCT 0.517 4 57 --- --- --- --- PASS OR2K2 26248 broad.mit.edu 37 9 114090514 114090514 + Missense_Mutation SNP G C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr9:114090514G>C uc011lwp.1 - 1 200 c.200C>G c.(199-201)TCT>TGT p.S67C NM_205859 NP_995581 Q8NGT1 OR2K2_HUMAN olfactory receptor, family 2, subfamily K, 96 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ATCCATGAAAGAGAGATTTCC 0.418 25 18 --- --- --- --- PASS TLR4 7099 broad.mit.edu 37 9 120474964 120474964 + Missense_Mutation SNP G C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr9:120474964G>C uc004bjz.2 + 3 849 c.558G>C c.(556-558)AAG>AAC p.K186N TLR4_uc004bka.2_Missense_Mutation_p.K146N|TLR4_uc004bkb.2_5'UTR NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 186 Extracellular (Potential).|LRR 6. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 CCAGCAACAAGATTCAAAGTA 0.388 57 71 --- --- --- --- PASS CRB2 286204 broad.mit.edu 37 9 126133398 126133398 + Silent SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr9:126133398C>A uc004bnx.1 + 8 2069 c.1977C>A c.(1975-1977)TCC>TCA p.S659S CRB2_uc004bnw.1_Silent_p.S659S NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 precursor 659 Extracellular (Potential).|Laminin G-like 2. extracellular region|integral to membrane|plasma membrane calcium ion binding ovary(1) 1 GCTCTGCCTCCTTTCTGCTCC 0.617 4 171 --- --- --- --- PASS CRB2 286204 broad.mit.edu 37 9 126136902 126136902 + Missense_Mutation SNP T A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr9:126136902T>A uc004bnx.1 + 11 3526 c.3434T>A c.(3433-3435)CTC>CAC p.L1145H NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 precursor 1145 Extracellular (Potential).|EGF-like 14. extracellular region|integral to membrane|plasma membrane calcium ion binding ovary(1) 1 GTCACCTGCCTCGATGGCAGC 0.657 20 16 --- --- --- --- PASS RET 5979 broad.mit.edu 37 10 43600477 43600477 + Missense_Mutation SNP G C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr10:43600477G>C uc001jal.2 + 4 893 c.703G>C c.(703-705)GAG>CAG p.E235Q RET_uc001jak.1_Missense_Mutation_p.E235Q|RET_uc010qez.1_5'UTR NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 235 Cadherin.|Extracellular (Potential). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) CGAGCAGCGGGAGAAGTACGA 0.711 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma 14 4 --- --- --- --- PASS RASGEF1A 221002 broad.mit.edu 37 10 43691988 43691988 + Missense_Mutation SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr10:43691988C>T uc001jap.1 - 12 1438 c.1357G>A c.(1357-1359)GTC>ATC p.V453I RASGEF1A_uc001jao.1_Missense_Mutation_p.V461I NM_145313 NP_660356 Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A 453 Ras-GEF. cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity 0 AAGGAGGCGACGAAGAGAGCT 0.562 35 30 --- --- --- --- PASS ARHGAP22 58504 broad.mit.edu 37 10 49687694 49687694 + Missense_Mutation SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr10:49687694C>T uc001jgt.2 - 4 733 c.436G>A c.(436-438)GCC>ACC p.A146T ARHGAP22_uc001jgs.2_Missense_Mutation_p.A56T|ARHGAP22_uc001jgu.2_Missense_Mutation_p.A146T|ARHGAP22_uc010qgl.1_Intron|ARHGAP22_uc010qgm.1_Missense_Mutation_p.A152T|ARHGAP22_uc001jgv.2_5'UTR|uc001jgw.2_5'Flank NM_021226 NP_067049 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 2 146 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity ovary(1) 1 CCCAGCGGGGCCCAGATGACT 0.667 25 12 --- --- --- --- PASS PLCE1 51196 broad.mit.edu 37 10 95892112 95892112 + Missense_Mutation SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr10:95892112C>T uc001kjk.2 + 3 2022 c.1388C>T c.(1387-1389)TCG>TTG p.S463L PLCE1_uc010qnx.1_Missense_Mutation_p.S463L|PLCE1_uc001kjm.2_Missense_Mutation_p.S155L NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 463 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) ACTTCAATATCGCAGTACATC 0.502 67 45 --- --- --- --- PASS SORCS1 114815 broad.mit.edu 37 10 108427527 108427527 + Missense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr10:108427527C>A uc001kym.2 - 17 2231 c.2223G>T c.(2221-2223)CAG>CAT p.Q741H SORCS1_uc001kyl.2_Missense_Mutation_p.Q741H|SORCS1_uc009xxs.2_Missense_Mutation_p.Q741H|SORCS1_uc001kyn.1_Missense_Mutation_p.Q741H|SORCS1_uc001kyo.2_Missense_Mutation_p.Q741H NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 741 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) CCGGCAGGCACTGGCCATTGC 0.453 14 15 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1269877 1269877 + Missense_Mutation SNP A T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr11:1269877A>T uc009ycr.1 + 50 13477 c.13351A>T c.(13351-13353)ACC>TCC p.T4451S MUC5B_uc001ltb.2_Missense_Mutation_p.T3926S NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 3923 7 X Cys-rich subdomain repeats.|11 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) GACCACCACCACCACAACTGT 0.502 5 5 --- --- --- --- PASS AMPD3 272 broad.mit.edu 37 11 10483143 10483143 + Missense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr11:10483143C>A uc001mio.1 + 2 412 c.77C>A c.(76-78)GCT>GAT p.A26D AMPD3_uc010rbz.1_5'UTR|AMPD3_uc001min.1_Missense_Mutation_p.A35D|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfx.1_Missense_Mutation_p.A26D|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.A33D|AMPD3_uc009yfy.2_Missense_Mutation_p.A26D NM_001025389 NP_001020560 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 isoform 1B 26 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding large_intestine(1)|ovary(1) 2 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) AAGGTGTTTGCTAAAGTGCTC 0.552 57 37 --- --- --- --- PASS LRP4 4038 broad.mit.edu 37 11 46903277 46903277 + Silent SNP A G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr11:46903277A>G uc001ndn.3 - 20 2936 c.2790T>C c.(2788-2790)GCT>GCC p.A930A NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 930 Extracellular (Potential).|LDL-receptor class B 9. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) CATCCAGTCCAGCAAATTCAA 0.493 47 126 --- --- --- --- PASS APLNR 187 broad.mit.edu 37 11 57004427 57004427 + Nonsense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr11:57004427C>A uc001njo.2 - 1 501 c.52G>T c.(52-54)GAG>TAG p.E18* APLNR_uc001njn.3_RNA NM_005161 NP_005152 P35414 APJ_HUMAN apelin receptor 18 Extracellular (Potential). integral to plasma membrane G-protein coupled receptor activity lung(5)|ovary(1) 6 TACTCACACTCAGACTGGTTG 0.582 37 75 --- --- --- --- PASS TCN1 6947 broad.mit.edu 37 11 59629138 59629138 + Missense_Mutation SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr11:59629138G>T uc001noj.2 - 4 516 c.418C>A c.(418-420)CCC>ACC p.P140T NM_001062 NP_001053 P20061 TCO1_HUMAN transcobalamin I precursor 140 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding ovary(2) 2 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTAGTCAGGGGAGTGCCATTG 0.448 38 59 --- --- --- --- PASS SPTBN2 6712 broad.mit.edu 37 11 66472936 66472936 + Missense_Mutation SNP T C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr11:66472936T>C uc001ojd.2 - 14 1883 c.1811A>G c.(1810-1812)TAT>TGT p.Y604C NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 604 Spectrin 3. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 GCAAGGTCTATACTCTGAGAA 0.637 24 34 --- --- --- --- PASS CPT1A 1374 broad.mit.edu 37 11 68574988 68574988 + Missense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr11:68574988C>A uc001oog.3 - 4 570 c.400G>T c.(400-402)GGG>TGG p.G134W CPT1A_uc001oof.3_Missense_Mutation_p.G134W|CPT1A_uc009ysj.2_Missense_Mutation_p.G134W NM_001876 NP_001867 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A liver isoform 134 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity skin(2) 2 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) AACATCCACCCGTGGTAGGAG 0.597 27 38 --- --- --- --- PASS DLG2 1740 broad.mit.edu 37 11 84245650 84245650 + Missense_Mutation SNP T A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr11:84245650T>A uc001paj.2 - 2 470 c.167A>T c.(166-168)CAT>CTT p.H56L DLG2_uc010rsz.1_Missense_Mutation_p.H56L|DLG2_uc010rta.1_Missense_Mutation_p.H56L|DLG2_uc001pak.2_Missense_Mutation_p.H161L|DLG2_uc001pal.1_Missense_Mutation_p.H56L NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 56 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) GACATATCCATGGACATTTTC 0.418 45 94 --- --- --- --- PASS SFRS2B 10929 broad.mit.edu 37 11 94801046 94801046 + Silent SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr11:94801046C>A uc001pff.2 + 2 992 c.657C>A c.(655-657)CGC>CGA p.R219R SFRS2B_uc001pfg.1_5'Flank NM_032102 NP_115285 Q9BRL6 SRSF8_HUMAN splicing factor, arginine/serine-rich 2B 219 mRNA processing|RNA splicing nucleus nucleotide binding|RNA binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CTAGCTCTCGCTCTGCATCAA 0.567 4 103 --- --- --- --- PASS RDX 5962 broad.mit.edu 37 11 110126072 110126072 + Missense_Mutation SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr11:110126072C>T uc001pku.2 - 8 1047 c.737G>A c.(736-738)AGA>AAA p.R246K RDX_uc009yxx.1_RNA|RDX_uc009yxy.2_Missense_Mutation_p.R246K|RDX_uc009yxz.2_Intron|RDX_uc009yya.2_Intron|RDX_uc010rwe.1_Missense_Mutation_p.R110K NM_002906 NP_002897 P35241 RADI_HUMAN radixin 246 FERM. actin filament capping cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane actin binding 0 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) TGAAATATTTCTGATTTCACT 0.269 17 36 --- --- --- --- PASS NCAM1 4684 broad.mit.edu 37 11 113105811 113105811 + Missense_Mutation SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr11:113105811G>A uc009yyq.1 + 15 2168 c.1474G>A c.(1474-1476)GTA>ATA p.V492I NM_001076682 NP_001070150 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 isoform 3 584 Extracellular (Potential).|Fibronectin type-III 1. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane ovary(1) 1 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) AACGTACGCCGTAAGGCTGGC 0.552 5 10 --- --- --- --- PASS OR6T1 219874 broad.mit.edu 37 11 123813782 123813782 + Missense_Mutation SNP G T T rs76969055 TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr11:123813782G>T uc010sab.1 - 1 764 c.764C>A c.(763-765)TCC>TAC p.S255Y NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, 255 Helical; Name=6; (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) GAGAAAGATGGAACTGCCATA 0.522 63 108 --- --- --- --- PASS OR10G4 390264 broad.mit.edu 37 11 123886704 123886704 + Silent SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr11:123886704C>A uc010sac.1 + 1 423 c.423C>A c.(421-423)GCC>GCA p.A141A NM_001004462 NP_001004462 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, 141 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 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) GCAGGTGTGCCCTCCTGGCCA 0.557 79 201 --- --- --- --- PASS ITFG2 55846 broad.mit.edu 37 12 2929267 2929267 + Missense_Mutation SNP G C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr12:2929267G>C uc001qlb.1 + 5 486 c.422G>C c.(421-423)CGT>CCT p.R141P ITFG2_uc010seb.1_5'UTR|ITFG2_uc010sec.1_RNA NM_018463 NP_060933 Q969R8 ITFG2_HUMAN integrin alpha FG-GAP repeat containing 2 141 FG-GAP 2; atypical. 0 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GATGGGTGTCGTGAGCTGGTG 0.612 25 36 --- --- --- --- PASS ANO2 57101 broad.mit.edu 37 12 5853362 5853362 + Missense_Mutation SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr12:5853362G>T uc001qnm.2 - 12 1372 c.1300C>A c.(1300-1302)CCT>ACT p.P434T NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 439 Helical; (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 ACGGTGGCAGGGTTGTCAAAC 0.547 27 69 --- --- --- --- PASS ERGIC2 51290 broad.mit.edu 37 12 29498455 29498455 + Missense_Mutation SNP T C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr12:29498455T>C uc001riv.2 - 11 879 c.746A>G c.(745-747)TAT>TGT p.Y249C ERGIC2_uc001riw.2_RNA NM_016570 NP_057654 Q96RQ1 ERGI2_HUMAN PTX1 protein 249 Lumenal (Potential). vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus ovary(1) 1 Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184) Arsenic trioxide(DB01169) TGTAATAAAATATTGGAACAT 0.313 70 87 --- --- --- --- PASS GXYLT1 283464 broad.mit.edu 37 12 42499711 42499711 + Missense_Mutation SNP C A A rs76555438 TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr12:42499711C>A uc001rms.3 - 5 998 c.773G>T c.(772-774)CGC>CTC p.R258L GXYLT1_uc001rmt.3_Missense_Mutation_p.R227L NM_173601 NP_775872 Q4G148 GXLT1_HUMAN glycosyltransferase 8 domain containing 3 258 Lumenal (Potential). O-glycan processing integral to membrane UDP-xylosyltransferase activity 0 CCTAGCAAAGCGATTATACCA 0.378 34 59 --- --- --- --- PASS ANKS1B 56899 broad.mit.edu 37 12 100175865 100175865 + Missense_Mutation SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr12:100175865C>T uc001tge.1 - 5 1097 c.680G>A c.(679-681)GGG>GAG p.G227E ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.G227E NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 227 ANK 7. 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) AAGTGCACTCCCCTTTTCTGT 0.368 10 11 --- --- --- --- PASS SLC17A8 246213 broad.mit.edu 37 12 100790151 100790151 + Missense_Mutation SNP C T T rs121918339 TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr12:100790151C>T uc010svi.1 + 5 945 c.632C>T c.(631-633)GCA>GTA p.A211V SLC17A8_uc009ztx.2_Missense_Mutation_p.A211V NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 211 Cytoplasmic (Potential). A -> V (in DFNA25). 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 AGTAAGTGGGCACCACCTTTG 0.423 30 58 --- --- --- --- PASS C12orf42 374470 broad.mit.edu 37 12 103699929 103699929 + Missense_Mutation SNP C G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr12:103699929C>G uc001tjt.2 - 5 542 c.454G>C c.(454-456)GAG>CAG p.E152Q C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.E152Q|C12orf42_uc001tju.2_Missense_Mutation_p.E57Q NM_198521 NP_940923 Q96LP6 CL042_HUMAN hypothetical protein LOC374470 152 ovary(1)|central_nervous_system(1) 2 CTGGCTCTCTCCTCAGTTTCT 0.458 28 52 --- --- --- --- PASS C12orf45 121053 broad.mit.edu 37 12 105388301 105388301 + Missense_Mutation SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr12:105388301G>T uc001tlb.2 + 4 418 c.385G>T c.(385-387)GAC>TAC p.D129Y NM_152318 NP_689531 Q8N5I9 CL045_HUMAN hypothetical protein LOC121053 129 0 AAAAGAAGTGgacagttcaga 0.299 23 28 --- --- --- --- PASS TMEM132D 121256 broad.mit.edu 37 12 129566569 129566569 + Missense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr12:129566569C>A uc009zyl.1 - 7 1986 c.1658G>T c.(1657-1659)GGG>GTG p.G553V TMEM132D_uc001uia.2_Missense_Mutation_p.G91V NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 553 Extracellular (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) TTCACTGTCCCCGGCAGGCCT 0.622 28 64 --- --- --- --- PASS ATP8A2 51761 broad.mit.edu 37 13 26411385 26411385 + Missense_Mutation SNP T A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr13:26411385T>A uc001uqk.2 + 29 2981 c.2839T>A c.(2839-2841)TAC>AAC p.Y947N ATP8A2_uc010tdi.1_Missense_Mutation_p.Y882N|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.Y497N NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 907 Cytoplasmic (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) TCCCCAGCTCTACAAAATCAC 0.488 64 38 --- --- --- --- PASS POLR1D 51082 broad.mit.edu 37 13 28239962 28239962 + Missense_Mutation SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr13:28239962G>A uc001urp.2 + 3 359 c.241G>A c.(241-243)GAA>AAA p.E81K POLR1D_uc010aam.2_Missense_Mutation_p.E53K|POLR1D_uc001urq.2_RNA NM_152705 NP_689918 Q9Y2S0 RPAC2_HUMAN polymerase (RNA) I polypeptide D isoform 2 Error:Variant_position_missing_in_Q9Y2S0_after_alignment 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|protein dimerization activity 0 Lung SC(185;0.0161) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213) CCAGAAAGAAGAAAACCCGAA 0.498 22 25 --- --- --- --- PASS OR4M1 441670 broad.mit.edu 37 14 20249034 20249034 + Missense_Mutation SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr14:20249034G>T uc010tku.1 + 1 553 c.553G>T c.(553-555)GTC>TTC p.V185F NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 185 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CACACAGGTTGTCCGGATTGC 0.458 91 68 --- --- --- --- PASS MPP5 64398 broad.mit.edu 37 14 67787835 67787835 + Silent SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr14:67787835G>A uc001xjc.2 + 13 2065 c.1599G>A c.(1597-1599)CGG>CGA p.R533R MPP5_uc001xjd.2_Silent_p.R499R|ATP6V1D_uc001xje.2_Intron NM_022474 NP_071919 Q8N3R9 MPP5_HUMAN membrane protein, palmitoylated 5 533 Guanylate kinase-like. tight junction assembly cytoplasm|endomembrane system|tight junction protein domain specific binding ovary(1) 1 all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106) TTGTTTCGCGGCAAGCATTCG 0.443 4 97 --- --- --- --- PASS ZFYVE26 23503 broad.mit.edu 37 14 68249614 68249614 + Nonsense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr14:68249614C>A uc001xka.2 - 21 4394 c.4255G>T c.(4255-4257)GAA>TAA p.E1419* ZFYVE26_uc010tsz.1_Intron|ZFYVE26_uc001xkc.3_Nonsense_Mutation_p.E1419* NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1419 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) ACCAAGGATTCCTCAAAAGCC 0.537 66 39 --- --- --- --- PASS FLRT2 23768 broad.mit.edu 37 14 86087896 86087896 + Missense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr14:86087896C>A uc001xvr.2 + 2 805 c.38C>A c.(37-39)GCT>GAT p.A13D FLRT2_uc010atd.2_Missense_Mutation_p.A13D NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 13 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) AGCCATGGGGCTTTTTTCCTG 0.458 51 34 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34064313 34064313 + Silent SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr15:34064313C>A uc001zhi.2 + 63 9079 c.9009C>A c.(9007-9009)TCC>TCA p.S3003S RYR3_uc010bar.2_Silent_p.S3003S NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3003 Helical; Name=M'; (Potential). 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) TCCTGACGTCCATCTTTGAGC 0.473 22 24 --- --- --- --- PASS RPAP1 26015 broad.mit.edu 37 15 41813976 41813976 + Missense_Mutation SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr15:41813976C>T uc001zod.2 - 21 3122 c.2998G>A c.(2998-3000)GAG>AAG p.E1000K RPAP1_uc001zoc.2_Missense_Mutation_p.E19K NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 1000 Leu-rich. 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) AGCAGCAGCTCATGGGTGAGG 0.557 15 37 --- --- --- --- PASS B2M 567 broad.mit.edu 37 15 45007768 45007768 + Nonsense_Mutation SNP C G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr15:45007768C>G uc001zuc.2 + 2 275 c.215C>G c.(214-216)TCA>TGA p.S72* B2M_uc010uek.1_Nonsense_Mutation_p.S72*|B2M_uc010bdx.1_Intron NM_004048 NP_004039 P61769 B2MG_HUMAN beta-2-microglobulin precursor 72 Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction early endosome membrane|Golgi membrane|MHC class I protein complex protein binding ovary(2)|skin(1) 3 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) GTGGAGCATTCAGACTTGTCT 0.418 58 56 --- --- --- --- PASS SEMA6D 80031 broad.mit.edu 37 15 48062819 48062819 + Silent SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr15:48062819C>A uc010bek.2 + 19 2419 c.2059C>A c.(2059-2061)CGA>AGA p.R687R SEMA6D_uc001zvw.2_Silent_p.R625R|SEMA6D_uc001zvy.2_Silent_p.R687R|SEMA6D_uc001zvz.2_Silent_p.R631R|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Silent_p.R625R|SEMA6D_uc001zwc.2_Silent_p.R612R NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 687 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) ATACTGCTATCGAGACATGTT 0.463 105 60 --- --- --- --- PASS SHC4 399694 broad.mit.edu 37 15 49127093 49127093 + Missense_Mutation SNP T C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr15:49127093T>C uc001zxb.1 - 11 2039 c.1610A>G c.(1609-1611)GAG>GGG p.E537G SHC4_uc010uey.1_Missense_Mutation_p.E294G|SHC4_uc010uez.1_Missense_Mutation_p.E251G NM_203349 NP_976224 Q6S5L8 SHC4_HUMAN rai-like protein 537 SH2. intracellular signal transduction cell junction|postsynaptic membrane ovary(3)|pancreas(2) 5 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) CAAGAGGCTCTCTGCCGCCTT 0.537 3 42 --- --- --- --- PASS NARG2 79664 broad.mit.edu 37 15 60747529 60747529 + Missense_Mutation SNP T C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr15:60747529T>C uc002agp.2 - 7 1014 c.779A>G c.(778-780)CAT>CGT p.H260R NARG2_uc002ago.2_Missense_Mutation_p.H123R|NARG2_uc002agq.3_5'Flank|NARG2_uc010bgk.2_Missense_Mutation_p.H260R|NARG2_uc002agr.1_Missense_Mutation_p.H260R NM_024611 NP_078887 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 isoform a 260 nucleus ovary(1)|lung(1) 2 ACTTACATAATGCATAGCTTC 0.368 27 205 --- --- --- --- PASS C15orf51 196968 broad.mit.edu 37 15 100341348 100341348 + RNA SNP T A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr15:100341348T>A uc010urx.1 - 3 c.299A>T C15orf51_uc010ury.1_RNA|uc002bvp.2_5'Flank|C15orf51_uc010urz.1_RNA|C15orf51_uc010bow.2_RNA NR_003260 Homo sapiens cDNA FLJ43799 fis, clone TESTI4000288. 0 ATGGAGTGCATGAAGCTGTGG 0.587 42 27 --- --- --- --- PASS SALL1 6299 broad.mit.edu 37 16 51174483 51174483 + Silent SNP A T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr16:51174483A>T uc010vgs.1 - 2 1681 c.1650T>A c.(1648-1650)ACT>ACA p.T550T SALL1_uc010vgr.1_Silent_p.T453T|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 550 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) AAGTGGTCAGAGTAGGCAGGA 0.577 38 28 --- --- --- --- PASS WSCD1 23302 broad.mit.edu 37 17 6021315 6021315 + Missense_Mutation SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr17:6021315G>T uc010cli.2 + 8 1561 c.1182G>T c.(1180-1182)AAG>AAT p.K394N WSCD1_uc002gcn.2_Missense_Mutation_p.K394N|WSCD1_uc002gco.2_Missense_Mutation_p.K394N|WSCD1_uc010clj.2_Missense_Mutation_p.K85N NM_015253 NP_056068 Q658N2 WSCD1_HUMAN WSC domain containing 1 394 integral to membrane sulfotransferase activity 0 CAGGGTTCAAGGGCGAAAAGG 0.542 4 127 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G A A rs28934574 TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr17:7577094G>A uc002gim.2 - 8 1038 c.844C>T c.(844-846)CGG>TGG p.R282W TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 282 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; 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.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(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) TCTGTGCGCCGGTCTCTCCCA 0.557 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 39 7 --- --- --- --- PASS CYB561 1534 broad.mit.edu 37 17 61514793 61514793 + Missense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr17:61514793C>A uc002jap.2 - 1 518 c.116G>T c.(115-117)CGA>CTA p.R39L CYB561_uc002jaq.2_Missense_Mutation_p.R85L|CYB561_uc002jar.2_Missense_Mutation_p.R39L|CYB561_uc002jas.2_Missense_Mutation_p.R39L|CYB561_uc010ddt.2_Missense_Mutation_p.R39L|CYB561_uc002jat.2_Missense_Mutation_p.R39L|CYB561_uc010wpf.1_Missense_Mutation_p.R39L|CYB561_uc010wpg.1_Missense_Mutation_p.R10L NM_001915 NP_001906 P49447 CY561_HUMAN cytochrome b-561 39 Cytochrome b561. electron transport chain|transport integral to plasma membrane cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding ovary(1) 1 READ - Rectum adenocarcinoma(1115;0.0689) AATGCCGCCTCGGTACAGCCC 0.652 58 22 --- --- --- --- PASS CARD14 79092 broad.mit.edu 37 17 78179367 78179367 + Silent SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr17:78179367G>A uc002jxw.1 + 19 2802 c.2607G>A c.(2605-2607)CAG>CAA p.Q869Q CARD14_uc002jxt.1_RNA NM_024110 NP_077015 Q9BXL6 CAR14_HUMAN caspase recruitment domain protein 14 isoform 1 869 Guanylate kinase-like. activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding ovary(4)|skin(1) 5 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CCTGGAGCCAGAGAGGGGACA 0.622 8 5 --- --- --- --- PASS MYOM1 8736 broad.mit.edu 37 18 3215016 3215016 + Missense_Mutation SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr18:3215016G>T uc002klp.2 - 2 540 c.206C>A c.(205-207)TCC>TAC p.S69Y MYOM1_uc002klq.2_Missense_Mutation_p.S69Y NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 69 striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 CTGCTGCTGGGAGGAGGAGGC 0.692 24 45 --- --- --- --- PASS RAB12 201475 broad.mit.edu 37 18 8624946 8624946 + Silent SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr18:8624946C>T uc002knp.2 + 2 520 c.237C>T c.(235-237)TTC>TTT p.F79F NM_001025300 NP_001020471 Q6IQ22 RAB12_HUMAN RAB12, member RAS oncogene family 79 Effector region (By similarity). protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding 0 GTGTTGACTTCAAAATCAAAA 0.323 52 130 --- --- --- --- PASS KLHL14 57565 broad.mit.edu 37 18 30260198 30260198 + Missense_Mutation SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr18:30260198G>T uc002kxm.1 - 7 1910 c.1522C>A c.(1522-1524)CGT>AGT p.R508S KLHL14_uc010dmd.1_Missense_Mutation_p.R57S NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN kelch-like 14 508 Kelch 4. cytosol|endoplasmic reticulum membrane ovary(1) 1 TGAATTGCACGTTTTGTGTTC 0.378 33 65 --- --- --- --- PASS CCDC102B 79839 broad.mit.edu 37 18 66513659 66513659 + Splice_Site SNP G C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr18:66513659G>C uc002lkk.2 + 6 1159 c.936_splice c.e6+1 p.E312_splice CCDC102B_uc002lki.2_Splice_Site_p.E312_splice|CCDC102B_uc002lkj.1_Splice_Site_p.E312_splice NM_001093729 NP_001087198 Q68D86 C102B_HUMAN coiled-coil domain containing 102B ovary(1)|lung(1)|skin(1) 3 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) TGTGAAAGAGGTATGGGGGAA 0.398 13 28 --- --- --- --- PASS ZNF236 7776 broad.mit.edu 37 18 74563729 74563729 + Splice_Site SNP A G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr18:74563729A>G uc002lmi.2 + 3 391 c.193_splice c.e3-2 p.P65_splice ZNF236_uc002lmj.2_Splice_Site|ZNF236_uc002lmk.1_Splice_Site_p.P65_splice NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CTCTCCAAATAGCCACATCGA 0.398 15 41 --- --- --- --- PASS TMPRSS9 360200 broad.mit.edu 37 19 2410385 2410385 + Missense_Mutation SNP C G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr19:2410385C>G uc010xgx.1 + 8 1145 c.1145C>G c.(1144-1146)TCC>TGC p.S382C TMPRSS9_uc002lvv.1_Missense_Mutation_p.S416C NM_182973 NP_892018 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 382 Extracellular (Potential).|Peptidase S1 1. proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(1)|central_nervous_system(1) 2 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) AAGGTGGACTCCTGCCAGGTG 0.567 18 28 --- --- --- --- PASS GADD45B 4616 broad.mit.edu 37 19 2477492 2477492 + Missense_Mutation SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr19:2477492C>T uc002lwb.1 + 4 598 c.376C>T c.(376-378)CAC>TAC p.H126Y NM_015675 NP_056490 O75293 GA45B_HUMAN growth arrest and DNA-damage-inducible, beta 126 activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development|response to stress 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) ACAGAACCCTCACACGGACGC 0.592 22 30 --- --- --- --- PASS GNA15 2769 broad.mit.edu 37 19 3151776 3151776 + Missense_Mutation SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr19:3151776G>A uc002lxf.2 + 4 815 c.557G>A c.(556-558)CGC>CAC p.R186H NM_002068 NP_002059 P30679 GNA15_HUMAN guanine nucleotide binding protein (G protein), 186 GTP (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity skin(2) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184) CTCCGCAGCCGCATGCCCACC 0.532 5 166 --- --- --- --- PASS ZNF557 79230 broad.mit.edu 37 19 7082908 7082908 + Missense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr19:7082908C>A uc002mgb.2 + 8 910 c.425C>A c.(424-426)GCA>GAA p.A142E ZNF557_uc002mga.2_Missense_Mutation_p.A149E|ZNF557_uc002mgc.2_Missense_Mutation_p.A149E NM_001044388 NP_001037853 Q8N988 ZN557_HUMAN zinc finger protein 557 isoform b 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung(535;0.179) CATCTTGGAGCAACACTCAAC 0.388 4 73 --- --- --- --- PASS OR10H1 26539 broad.mit.edu 37 19 15918067 15918067 + Silent SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr19:15918067G>A uc002nbq.2 - 1 870 c.781C>T c.(781-783)CTG>TTG p.L261L NM_013940 NP_039228 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTGGGCTTCAGGTAAATGACG 0.557 3 78 --- --- --- --- PASS LSM4 25804 broad.mit.edu 37 19 18420657 18420657 + Missense_Mutation SNP G C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr19:18420657G>C uc002niq.2 - 4 330 c.159C>G c.(157-159)TTC>TTG p.F53L NM_012321 NP_036453 Q9Y4Z0 LSM4_HUMAN U6 snRNA-associated Sm-like protein 4 53 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing cytosol|U6 snRNP protein binding|RNA binding 0 GCATCCGCCAGAACTTGTCCC 0.642 8 19 --- --- --- --- PASS ZNF431 170959 broad.mit.edu 37 19 21366407 21366407 + Missense_Mutation SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr19:21366407G>T uc002npp.2 + 5 1448 c.1301G>T c.(1300-1302)GGC>GTC p.G434V ZNF431_uc010ecq.2_Missense_Mutation_p.G343V|ZNF431_uc010ecr.2_Missense_Mutation_p.G435V NM_133473 NP_597730 Q8TF32 ZN431_HUMAN zinc finger protein 431 434 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2) 2 GAAGAATGTGGCAAAGCTTTT 0.393 14 29 --- --- --- --- PASS ZNF708 7562 broad.mit.edu 37 19 21477005 21477005 + Nonsense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr19:21477005C>A uc002npq.1 - 4 961 c.763G>T c.(763-765)GAA>TAA p.E255* ZNF708_uc002npr.1_Nonsense_Mutation_p.E191*|ZNF708_uc010ecs.1_Nonsense_Mutation_p.E191* NM_021269 NP_067092 P17019 ZN708_HUMAN zinc finger protein 708 255 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(4)|skin(2) 6 CCACATTCTTCACATTTGTAG 0.373 15 46 --- --- --- --- PASS LSM14A 26065 broad.mit.edu 37 19 34712411 34712411 + Splice_Site SNP G C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr19:34712411G>C uc002nvb.3 + 9 1333 c.1137_splice c.e9-1 p.R379_splice LSM14A_uc002nva.3_Splice_Site_p.R379_splice|LSM14A_uc010xru.1_Splice_Site_p.R338_splice|LSM14A_uc002nvc.3_Splice_Site_p.R185_splice NM_001114093 NP_001107565 Q8ND56 LS14A_HUMAN LSM14 homolog A isoform a cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule skin(1) 1 Esophageal squamous(110;0.162) TTTTATAATAGAGAACGGAGA 0.408 18 19 --- --- --- --- PASS MAG 4099 broad.mit.edu 37 19 35790486 35790486 + Missense_Mutation SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr19:35790486G>A uc002nyy.1 + 5 594 c.445G>A c.(445-447)GTG>ATG p.V149M MAG_uc002nyx.1_Missense_Mutation_p.V149M|MAG_uc010eds.1_Missense_Mutation_p.V124M|MAG_uc002nyz.1_Missense_Mutation_p.V149M NM_002361 NP_002352 P20916 MAG_HUMAN myelin associated glycoprotein isoform a 149 Ig-like C2-type 1.|Extracellular (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) GCCCCCAGAGGTGGTGGCAGG 0.682 7 14 --- --- --- --- PASS PRODH2 58510 broad.mit.edu 37 19 36303141 36303141 + Missense_Mutation SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr19:36303141C>T uc002obx.1 - 4 651 c.633G>A c.(631-633)ATG>ATA p.M211I NM_021232 NP_067055 Q9UF12 PROD2_HUMAN kidney and liver proline oxidase 1 211 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) CACACCGCAGCATAGCACCGA 0.672 32 45 --- --- --- --- PASS NPHS1 4868 broad.mit.edu 37 19 36322604 36322604 + Missense_Mutation SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr19:36322604G>T uc002oby.2 - 24 3227 c.3227C>A c.(3226-3228)TCC>TAC p.S1076Y NPHS1_uc010eem.1_Intron NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 1076 Helical; (Potential). cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 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) GGAGGCATTGGAGAGGAGCAG 0.647 5 8 --- --- --- --- PASS PLEKHG2 64857 broad.mit.edu 37 19 39914208 39914208 + Silent SNP A G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr19:39914208A>G uc010xuz.1 + 18 2839 c.2514A>G c.(2512-2514)GCA>GCG p.A838A PLEKHG2_uc010xuy.1_Silent_p.A779A|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Silent_p.A616A NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN common-site lymphoma/leukemia guanine nucleotide 838 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 skin(2)|pancreas(1)|breast(1) 4 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) AGACTCGGGCATCAGCCAATG 0.697 3 8 --- --- --- --- PASS GRIN2D 2906 broad.mit.edu 37 19 48945536 48945536 + Missense_Mutation SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr19:48945536G>T uc002pjc.3 + 12 2658 c.2570G>T c.(2569-2571)GGC>GTC p.G857V GRIN2D_uc010elx.2_Missense_Mutation_p.G92V NM_000836 NP_000827 O15399 NMDE4_HUMAN N-methyl-D-aspartate receptor subunit 2D 857 Helical; (Potential). cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding ovary(3)|breast(3) 6 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) GTGGCCATGGGCCTGTCCCTG 0.622 57 110 --- --- --- --- PASS BCAT2 587 broad.mit.edu 37 19 49300560 49300560 + Missense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr19:49300560C>A uc002pkr.2 - 7 763 c.726G>T c.(724-726)CAG>CAT p.Q242H BCAT2_uc002pkp.2_Missense_Mutation_p.Q202H|BCAT2_uc002pkq.3_Missense_Mutation_p.Q202H|BCAT2_uc002pks.2_Missense_Mutation_p.Q202H|BCAT2_uc002pkt.2_Missense_Mutation_p.Q150H|BCAT2_uc010emh.1_Missense_Mutation_p.Q242H|BCAT2_uc010emi.1_Missense_Mutation_p.Q150H NM_001190 NP_001181 O15382 BCAT2_HUMAN branched chain aminotransferase 2, mitochondrial 242 mitochondrial matrix L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity ovary(1) 1 all_epithelial(76;7e-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;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224) L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114) TGAGTGCCTCCTGTTGCACTA 0.622 12 29 --- --- --- --- PASS BRSK1 84446 broad.mit.edu 37 19 55814114 55814114 + Missense_Mutation SNP C T T rs144130246 TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr19:55814114C>T uc002qkg.2 + 10 1184 c.907C>T c.(907-909)CGG>TGG p.R303W BRSK1_uc002qkf.2_Missense_Mutation_p.R319W|BRSK1_uc002qkh.2_5'UTR NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 303 R -> W (in a gastric adenocarcinoma sample; somatic mutation). establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity p.R303W(1) ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1) 6 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) CCCTGGCCGCCGGGTAGCCAT 0.632 4 95 --- --- --- --- PASS ZNF667 63934 broad.mit.edu 37 19 56952825 56952825 + Missense_Mutation SNP G C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr19:56952825G>C uc002qnd.2 - 5 1701 c.1539C>G c.(1537-1539)CAC>CAG p.H513Q ZNF667_uc010etl.2_Missense_Mutation_p.H295Q|ZNF667_uc002qne.2_Missense_Mutation_p.H513Q|ZNF667_uc010etm.2_Missense_Mutation_p.H456Q NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 513 C2H2-type 12. 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) GTTGGGCGAGGTGTGCACTCT 0.443 27 45 --- --- --- --- PASS KIF16B 55614 broad.mit.edu 37 20 16336978 16336978 + Silent SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr20:16336978G>A uc002wpg.1 - 23 3776 c.3618C>T c.(3616-3618)GTC>GTT p.V1206V KIF16B_uc002wpe.1_Silent_p.V588V|KIF16B_uc002wpf.1_Intron|KIF16B_uc010gch.1_Silent_p.V1155V NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 1206 PX. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 CACTCACCTTGACCTCAAACT 0.463 31 53 --- --- --- --- PASS PYGB 5834 broad.mit.edu 37 20 25239970 25239970 + Missense_Mutation SNP A T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr20:25239970A>T uc002wup.2 + 2 450 c.341A>T c.(340-342)TAT>TTT p.Y114F NM_002862 NP_002853 P11216 PYGB_HUMAN brain glycogen phosphorylase 114 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 Pyridoxal Phosphate(DB00114) GAAGCCATCTATCAGGTACAG 0.532 4 66 --- --- --- --- PASS C20orf160 140706 broad.mit.edu 37 20 30610466 30610466 + Missense_Mutation SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr20:30610466G>A uc002wxf.2 + 6 950 c.937G>A c.(937-939)GCT>ACT p.A313T C20orf160_uc002wxg.2_5'UTR NM_080625 NP_542192 Q9NUG4 CT160_HUMAN hypothetical protein LOC140706 313 central_nervous_system(3)|ovary(1) 4 GGGCCAGGACGCTGCAGAGGA 0.542 7 167 --- --- --- --- PASS CHD6 84181 broad.mit.edu 37 20 40043904 40043904 + Silent SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr20:40043904C>A uc002xka.1 - 34 7039 c.6861G>T c.(6859-6861)CGG>CGT p.R2287R CHD6_uc002xjz.1_5'Flank NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2287 Poly-Arg. 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) GCCTCCCTCTCCGCCTCCTCG 0.517 62 98 --- --- --- --- PASS JPH2 57158 broad.mit.edu 37 20 42789044 42789044 + Missense_Mutation SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr20:42789044G>A uc002xli.1 - 2 1256 c.383C>T c.(382-384)ACG>ATG p.T128M NM_020433 NP_065166 Q9BR39 JPH2_HUMAN junctophilin 2 isoform 1 128 MORN 5.|Gly-rich.|Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane 0 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GCCTTGGTACGTCCCTGCGGG 0.721 9 13 --- --- --- --- PASS SULF2 55959 broad.mit.edu 37 20 46301014 46301014 + Missense_Mutation SNP C T T rs143133611 byFrequency TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr20:46301014C>T uc002xto.2 - 11 1834 c.1504G>A c.(1504-1506)GAG>AAG p.E502K SULF2_uc002xtr.2_Missense_Mutation_p.E502K|SULF2_uc002xtq.2_Missense_Mutation_p.E502K NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN sulfatase 2 isoform a precursor 502 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 GTGCAGGCCTCGCTGCCCTGC 0.617 33 44 --- --- --- --- PASS FAM65C 140876 broad.mit.edu 37 20 49214214 49214214 + Nonsense_Mutation SNP C A A rs150234701 byFrequency TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr20:49214214C>A uc002xvm.2 - 14 1999 c.1681G>T c.(1681-1683)GAG>TAG p.E561* FAM65C_uc010zyt.1_Nonsense_Mutation_p.E565*|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Nonsense_Mutation_p.E561* NM_080829 NP_543019 Q96MK2 FA65C_HUMAN hypothetical protein LOC140876 561 ovary(2) 2 ATCAGGCTCTCGGCCGAGGTG 0.662 9 13 --- --- --- --- PASS TSHZ2 128553 broad.mit.edu 37 20 51870967 51870967 + Missense_Mutation SNP G T T rs138844500 byFrequency TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr20:51870967G>T uc002xwo.2 + 2 1926 c.970G>T c.(970-972)GTT>TTT p.V324F NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 324 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) TAAGAAACGCGTTTTTGATGT 0.458 73 91 --- --- --- --- PASS ADAMTS1 9510 broad.mit.edu 37 21 28214679 28214679 + Silent SNP T C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr21:28214679T>C uc002ymf.2 - 2 1511 c.1056A>G c.(1054-1056)ACA>ACG p.T352T NM_006988 NP_008919 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 352 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding lung(3)|large_intestine(2)|central_nervous_system(1) 6 Breast(209;0.000962) Lung(58;0.215) AAAGAATTGCTGTGTCATAGT 0.493 18 34 --- --- --- --- PASS ZNF280A 129025 broad.mit.edu 37 22 22869796 22869796 + Silent SNP T C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr22:22869796T>C uc002zwe.2 - 2 412 c.159A>G c.(157-159)TCA>TCG p.S53S LOC96610_uc011aim.1_Intron NM_080740 NP_542778 P59817 Z280A_HUMAN zinc finger protein 280A 53 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) GTTTTGAATTTGAAATCATCC 0.438 32 68 --- --- --- --- PASS RAB36 9609 broad.mit.edu 37 22 23487634 23487634 + Missense_Mutation SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr22:23487634C>T uc002zwv.1 + 1 122 c.82C>T c.(82-84)CGT>TGT p.R28C RAB36_uc010gtw.1_Missense_Mutation_p.R28C NM_004914 NP_004905 O95755 RAB36_HUMAN RAB36, member RAS oncogene family 28 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding ovary(1)|central_nervous_system(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.155) GTCGACGATTCGTGTAGCCCG 0.677 43 66 --- --- --- --- PASS SGSM1 129049 broad.mit.edu 37 22 25251545 25251545 + Missense_Mutation SNP G C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr22:25251545G>C uc003abg.2 + 8 856 c.699G>C c.(697-699)ATG>ATC p.M233I SGSM1_uc003abh.2_Missense_Mutation_p.M233I|SGSM1_uc010guu.1_Missense_Mutation_p.M233I|SGSM1_uc003abj.2_Missense_Mutation_p.M233I|SGSM1_uc003abi.1_Missense_Mutation_p.M208I|SGSM1_uc003abf.2_Missense_Mutation_p.M233I NM_001039948 NP_001035037 Q2NKQ1 SGSM1_HUMAN RUN and TBC1 domain containing 2 isoform 1 233 Golgi apparatus Rab GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1) 5 GTGGCAGCATGGATGACCGGC 0.572 14 24 --- --- --- --- PASS BPIL2 254240 broad.mit.edu 37 22 32828430 32828430 + Missense_Mutation SNP A G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr22:32828430A>G uc003amn.2 - 10 1079 c.1079T>C c.(1078-1080)ATC>ACC p.I360T BPIL2_uc010gwo.2_Intron|BPIL2_uc011amb.1_Missense_Mutation_p.I84T NM_174932 NP_777592 Q8NFQ6 BPIL2_HUMAN bactericidal/permeability-increasing 360 extracellular region lipopolysaccharide binding|phospholipid binding ovary(1)|skin(1) 2 GGAGGCAGGGATGTCCAGGGT 0.512 52 109 --- --- --- --- PASS ELFN2 114794 broad.mit.edu 37 22 37771493 37771493 + Missense_Mutation SNP C G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chr22:37771493C>G uc003asq.3 - 3 868 c.82G>C c.(82-84)GAG>CAG p.E28Q NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN leucine rich repeat containing 62 28 Extracellular (Potential). cell surface|integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Melanoma(58;0.0574) TTGTCGCCCTCAATGAGCCAG 0.692 10 16 --- --- --- --- PASS ATXN3L 92552 broad.mit.edu 37 X 13337109 13337109 + Silent SNP T C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:13337109T>C uc010ned.2 - 1 1410 c.945A>G c.(943-945)ACA>ACG p.T315T NM_001135995 NP_001129467 Q9H3M9 ATX3L_HUMAN ataxin 3-like 315 protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity lung(2)|ovary(2)|large_intestine(1)|skin(1) 6 TCGAACTTGTTGTTGGCCTTT 0.438 104 143 --- --- --- --- PASS BEND2 139105 broad.mit.edu 37 X 18189190 18189190 + Missense_Mutation SNP T A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:18189190T>A uc004cyj.3 - 13 2270 c.2116A>T c.(2116-2118)AGT>TGT p.S706C BEND2_uc010nfb.2_Missense_Mutation_p.S615C NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 706 BEN 2. ovary(3)|kidney(1)|central_nervous_system(1) 5 TAGACGTTACTTTGGACCAGG 0.438 118 207 --- --- --- --- PASS PHKA2 5256 broad.mit.edu 37 X 18915420 18915420 + Missense_Mutation SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:18915420G>T uc004cyv.3 - 30 3573 c.3143C>A c.(3142-3144)ACG>AAG p.T1048K PHKA2_uc004cyu.3_Missense_Mutation_p.T354K|PHKA2_uc010nfe.1_Missense_Mutation_p.T80K|PHKA2_uc010nff.1_RNA NM_000292 NP_000283 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 1048 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(1)|central_nervous_system(1) 2 Hepatocellular(33;0.183) TGAGGATGACGTGCCAGTGGG 0.657 19 48 --- --- --- --- PASS PDHA1 5160 broad.mit.edu 37 X 19371288 19371288 + Silent SNP G T T rs141862527 byFrequency TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:19371288G>T uc004czg.3 + 5 652 c.507G>T c.(505-507)GCG>GCT p.A169A PDHA1_uc004czh.3_Silent_p.A204A|PDHA1_uc011mjc.1_Silent_p.A173A|PDHA1_uc011mjd.1_Silent_p.A166A|PDHA1_uc010nfk.2_Silent_p.A166A|PDHA1_uc010nfl.2_5'Flank NM_000284 NP_000275 P08559 ODPA_HUMAN pyruvate dehydrogenase E1 alpha 1 precursor 169 glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix protein binding|pyruvate dehydrogenase (acetyl-transferring) activity ovary(1) 1 Hepatocellular(33;0.183) NADH(DB00157) TCGTGGGAGCGCAGGTAGTCA 0.488 45 71 --- --- --- --- PASS MAP3K15 389840 broad.mit.edu 37 X 19398259 19398259 + Silent SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:19398259C>T uc004czk.1 - 20 2630 c.993G>A c.(991-993)GAG>GAA p.E331E MAP3K15_uc004czj.1_Silent_p.E291E NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 856 Protein kinase. ATP binding|MAP kinase kinase kinase activity|metal ion binding ovary(3)|lung(2)|stomach(1)|skin(1) 7 Hepatocellular(33;0.183) CTGCCTGCGGCTCACCAAGCT 0.453 12 24 --- --- --- --- PASS POLA1 5422 broad.mit.edu 37 X 24733279 24733279 + Missense_Mutation SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:24733279G>T uc004dbl.2 + 6 489 c.466G>T c.(466-468)GAT>TAT p.D156Y POLA1_uc004dbm.2_Missense_Mutation_p.D162Y|POLA1_uc004dbn.2_Missense_Mutation_p.D20Y NM_016937 NP_058633 P09884 DPOLA_HUMAN DNA-directed DNA polymerase alpha 1 156 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) CTTGTCCAAGGATGGTCTGCT 0.383 62 106 --- --- --- --- PASS MAGEB2 4113 broad.mit.edu 37 X 30237172 30237172 + Missense_Mutation SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:30237172G>T uc004dbz.2 + 2 578 c.475G>T c.(475-477)GGC>TGC p.G159C NM_002364 NP_002355 O15479 MAGB2_HUMAN melanoma antigen family B, 2 159 MAGE. protein binding ovary(1) 1 AGCCTCTGAGGGCCTCAGTGT 0.458 23 30 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 32328381 32328381 + Missense_Mutation SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:32328381C>T uc004dda.1 - 42 6179 c.5935G>A c.(5935-5937)GAA>AAA p.E1979K DMD_uc004dcw.2_Missense_Mutation_p.E635K|DMD_uc004dcx.2_Missense_Mutation_p.E638K|DMD_uc004dcz.2_Missense_Mutation_p.E1856K|DMD_uc004dcy.1_Missense_Mutation_p.E1975K|DMD_uc004ddb.1_Missense_Mutation_p.E1971K|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1979 Spectrin 13. 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) ATCGTTTCTTCACGGACAGTG 0.368 20 27 --- --- --- --- PASS TSPAN7 7102 broad.mit.edu 37 X 38546900 38546900 + Silent SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:38546900C>A uc004deg.3 + 7 798 c.729C>A c.(727-729)GCC>GCA p.A243A TSPAN7_uc011mkj.1_Silent_p.A269A|TSPAN7_uc011mkk.1_Silent_p.A260A|TSPAN7_uc004deh.2_Silent_p.A151A NM_004615 NP_004606 P41732 TSN7_HUMAN tetraspanin 7 243 Cytoplasmic (Potential). interspecies interaction between organisms integral to plasma membrane ovary(1) 1 TCATCACGGCCAATCAGTATG 0.493 19 35 --- --- --- --- PASS BCOR 54880 broad.mit.edu 37 X 39922016 39922016 + Missense_Mutation SNP C G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:39922016C>G uc004den.3 - 9 4448 c.4156G>C c.(4156-4158)GAG>CAG p.E1386Q BCOR_uc004dep.3_Missense_Mutation_p.E1352Q|BCOR_uc004deo.3_Missense_Mutation_p.E1334Q|BCOR_uc010nhb.2_Missense_Mutation_p.E94Q|BCOR_uc004dem.3_Missense_Mutation_p.E1352Q NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 1386 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 TCGGCATTCTCCACGTAGTAT 0.587 13 37 --- --- --- --- PASS USP9X 8239 broad.mit.edu 37 X 41056655 41056655 + Missense_Mutation SNP G C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:41056655G>C uc004dfb.2 + 29 4905 c.4272G>C c.(4270-4272)GAG>GAC p.E1424D USP9X_uc004dfc.2_Missense_Mutation_p.E1424D NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 1424 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 GTATTGAAGAGACGATCTTAG 0.458 15 32 --- --- --- --- PASS USP9X 8239 broad.mit.edu 37 X 41064718 41064718 + Missense_Mutation SNP G C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:41064718G>C uc004dfb.2 + 32 5620 c.4987G>C c.(4987-4989)GTG>CTG p.V1663L USP9X_uc004dfc.2_Missense_Mutation_p.V1663L NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 1663 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 GCAATACTATGTGCCCAGAGG 0.363 69 126 --- --- --- --- PASS SYP 6855 broad.mit.edu 37 X 49055482 49055482 + Missense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:49055482C>A uc004dmz.1 - 2 63 c.47G>T c.(46-48)GGG>GTG p.G16V SYP_uc011mmz.1_5'UTR|SYP_uc004dna.1_Missense_Mutation_p.G10V NM_003179 NP_003170 P08247 SYPH_HUMAN synaptophysin 16 Cytoplasmic (Potential). regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization cell junction|integral to synaptic vesicle membrane|synaptosome calcium ion binding|cholesterol binding|transporter activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(315;0.00016) GAACTGACCCCCAGCCACCAG 0.632 17 30 --- --- --- --- PASS GNL3L 54552 broad.mit.edu 37 X 54565501 54565501 + Silent SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:54565501G>A uc004dth.1 + 3 187 c.48G>A c.(46-48)AAG>AAA p.K16K GNL3L_uc004dti.2_RNA NM_019067 NP_061940 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 16 Required for nucleolar localization. ribosome biogenesis nucleolus GTP binding ovary(1) 1 AAGGTTCCAAGGGCCACAAGA 0.438 9 20 --- --- --- --- PASS GNL3L 54552 broad.mit.edu 37 X 54565513 54565513 + Missense_Mutation SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:54565513G>T uc004dth.1 + 3 199 c.60G>T c.(58-60)AAG>AAT p.K20N GNL3L_uc004dti.2_RNA NM_019067 NP_061940 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 20 Required for nucleolar localization. KK->AA: Loss of nuclear location; when associated with 9-A-A-10. Loss of nuclear location; when associated with 34-A-A-35. ribosome biogenesis nucleolus GTP binding ovary(1) 1 GCCACAAGAAGATAAGTTGGC 0.433 8 17 --- --- --- --- PASS ITIH5L 347365 broad.mit.edu 37 X 54784647 54784647 + Silent SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:54784647G>T uc004dtj.2 - 8 1890 c.1860C>A c.(1858-1860)ACC>ACA p.T620T NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 620 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 TCTGTCTCCTGGTCTCCTCAC 0.567 20 38 --- --- --- --- PASS PAGE2B 389860 broad.mit.edu 37 X 55102489 55102489 + Silent SNP G C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:55102489G>C uc004due.2 + 2 67 c.15G>C c.(13-15)GTG>GTC p.V5V NM_001015038 NP_001015038 Q5JRK9 GGEE3_HUMAN P antigen family, member 2B 5 0 GTGAGCATGTGAGAACAAGAT 0.363 18 43 --- --- --- --- PASS FAM123B 139285 broad.mit.edu 37 X 63412739 63412739 + Missense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:63412739C>A uc004dvo.2 - 2 701 c.428G>T c.(427-429)TGT>TTT p.C143F NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 143 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 AGATGTCTTACATCTGGAGCC 0.517 16 61 --- --- --- --- PASS SLC7A3 84889 broad.mit.edu 37 X 70148757 70148757 + Missense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:70148757C>A uc004dyn.2 - 3 624 c.466G>T c.(466-468)GTG>TTG p.V156L SLC7A3_uc004dyo.2_Missense_Mutation_p.V156L NM_032803 NP_116192 Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid 156 Extracellular (Potential). cellular nitrogen compound metabolic process integral to membrane|plasma membrane ovary(1)|kidney(1) 2 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) ACATGGGGCACGTGCAGTGCA 0.552 42 42 --- --- --- --- PASS TAF1 6872 broad.mit.edu 37 X 70602911 70602911 + Missense_Mutation SNP A C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:70602911A>C uc004dzu.3 + 12 1892 c.1841A>C c.(1840-1842)CAG>CCG p.Q614P BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.Q635P NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 614 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) AAACTCCGGCAGTTCCATCGC 0.473 23 37 --- --- --- --- PASS PHKA1 5255 broad.mit.edu 37 X 71822070 71822070 + Missense_Mutation SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:71822070C>T uc004eax.3 - 27 3272 c.2971G>A c.(2971-2973)GCT>ACT p.A991T PHKA1_uc004eay.3_Missense_Mutation_p.A991T|PHKA1_uc011mqi.1_Missense_Mutation_p.A932T NM_002637 NP_002628 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) isoform 991 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(3)|skin(1) 4 Renal(35;0.156) GCTCCAACAGCACCAATCTCG 0.413 19 44 --- --- --- --- PASS XIST 7503 broad.mit.edu 37 X 73061342 73061342 + RNA SNP T G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:73061342T>G uc004ebm.1 - 1 c.11247A>C NR_001564 Homo sapiens cDNA: FLJ21545 fis, clone COL06195. 0 TTTCAGTTATTACAAAGAACT 0.433 52 120 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91090821 91090821 + Nonsense_Mutation SNP C A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:91090821C>A uc004efk.1 + 1 1163 c.318C>A c.(316-318)TGC>TGA p.C106* PCDH11X_uc004efl.1_Nonsense_Mutation_p.C106*|PCDH11X_uc004efo.1_Nonsense_Mutation_p.C106*|PCDH11X_uc010nmv.1_Nonsense_Mutation_p.C106*|PCDH11X_uc004efm.1_Nonsense_Mutation_p.C106*|PCDH11X_uc004efn.1_Nonsense_Mutation_p.C106*|PCDH11X_uc004efh.1_Nonsense_Mutation_p.C106*|PCDH11X_uc004efj.1_Nonsense_Mutation_p.C106* NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 106 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 ATGAGCATTGCTTTTATGAAG 0.403 67 157 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91090822 91090822 + Missense_Mutation SNP T A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:91090822T>A uc004efk.1 + 1 1164 c.319T>A c.(319-321)TTT>ATT p.F107I PCDH11X_uc004efl.1_Missense_Mutation_p.F107I|PCDH11X_uc004efo.1_Missense_Mutation_p.F107I|PCDH11X_uc010nmv.1_Missense_Mutation_p.F107I|PCDH11X_uc004efm.1_Missense_Mutation_p.F107I|PCDH11X_uc004efn.1_Missense_Mutation_p.F107I|PCDH11X_uc004efh.1_Missense_Mutation_p.F107I|PCDH11X_uc004efj.1_Missense_Mutation_p.F107I NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 107 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 TGAGCATTGCTTTTATGAAGT 0.403 66 156 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91642836 91642836 + Missense_Mutation SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:91642836C>T uc004efk.1 + 5 4092 c.3247C>T c.(3247-3249)CAT>TAT p.H1083Y PCDH11X_uc004efl.1_Missense_Mutation_p.H1073Y|PCDH11X_uc004efo.1_Missense_Mutation_p.H1046Y|PCDH11X_uc010nmv.1_Intron|PCDH11X_uc004efm.1_Missense_Mutation_p.H1083Y|PCDH11X_uc004efn.1_Missense_Mutation_p.H1073Y NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1083 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CAGCACATCTCATGGCCTGCC 0.552 66 108 --- --- --- --- PASS TRMT2B 79979 broad.mit.edu 37 X 100265657 100265657 + Silent SNP G C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:100265657G>C uc004egq.2 - 13 1727 c.1428C>G c.(1426-1428)GGC>GGG p.G476G TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Silent_p.G476G|TRMT2B_uc004egs.2_3'UTR|TRMT2B_uc004egt.2_Silent_p.G476G|TRMT2B_uc004egu.2_Silent_p.G357G|TRMT2B_uc004egv.2_Silent_p.G431G NM_024917 NP_079193 Q96GJ1 TRM2_HUMAN TRM2 tRNA methyltransferase 2 homolog B 476 tRNA (uracil-5-)-methyltransferase activity ovary(1) 1 CAAAGGGCTCGCCTAAGAGCT 0.502 49 60 --- --- --- --- PASS TCEAL6 158931 broad.mit.edu 37 X 101396063 101396063 + Missense_Mutation SNP C T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:101396063C>T uc004eiq.2 - 3 402 c.241G>A c.(241-243)GAG>AAG p.E81K NM_001006938 NP_001006939 Q6IPX3 TCAL6_HUMAN transcription elongation factor A (SII)-like 6 81 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 GGCTTGCCCTCGCCTTGTGGC 0.502 76 91 --- --- --- --- PASS IRS4 8471 broad.mit.edu 37 X 107976320 107976320 + Silent SNP T C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:107976320T>C uc004eoc.2 - 1 3288 c.3255A>G c.(3253-3255)CCA>CCG p.P1085P NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 1085 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 AACGGCTTTGTGGGCGTCTTC 0.552 68 132 --- --- --- --- PASS WDR44 54521 broad.mit.edu 37 X 117540953 117540953 + Missense_Mutation SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:117540953G>T uc004eqn.2 + 10 1922 c.1497G>T c.(1495-1497)CAG>CAT p.Q499H WDR44_uc004eqo.2_Missense_Mutation_p.Q499H|WDR44_uc011mtr.1_Missense_Mutation_p.Q474H|WDR44_uc010nqi.2_Missense_Mutation_p.Q209H NM_019045 NP_061918 Q5JSH3 WDR44_HUMAN WD repeat domain 44 protein 499 cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 ATTTTGATCAGATCAAAGTGG 0.353 64 109 --- --- --- --- PASS CUL4B 8450 broad.mit.edu 37 X 119694097 119694097 + Missense_Mutation SNP T A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:119694097T>A uc004esw.2 - 3 888 c.451A>T c.(451-453)ACA>TCA p.T151S CUL4B_uc004esv.2_Missense_Mutation_p.T133S NM_003588 NP_003579 Q13620 CUL4B_HUMAN cullin 4B isoform 1 151 Ser-rich. cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding lung(1)|central_nervous_system(1)|pancreas(1) 3 TGCTGAGATGTTGCAGCAGTT 0.413 48 58 --- --- --- --- PASS DCAF12L2 340578 broad.mit.edu 37 X 125298856 125298856 + Missense_Mutation SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:125298856G>T uc004euk.1 - 1 1079 c.1052C>A c.(1051-1053)ACA>AAA p.T351K NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 351 WD 4. lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 CCGCACGCCTGTGCCACCCTC 0.627 48 83 --- --- --- --- PASS FAM45B 55855 broad.mit.edu 37 X 129629150 129629150 + Silent SNP G A A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:129629150G>A uc010nrh.2 + 1 236 c.18G>A c.(16-18)TTG>TTA p.L6L uc004evu.2_RNA NM_207009 NP_996892 hypothetical protein LOC404636 skin(1) 1 all cancers(201;0.0293) CGGCCGAGTTGGCGGACACTC 0.502 26 42 --- --- --- --- PASS SAGE1 55511 broad.mit.edu 37 X 134987551 134987551 + Missense_Mutation SNP C G G rs147659975 by1000genomes TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:134987551C>G uc004ezh.2 + 5 621 c.454C>G c.(454-456)CAT>GAT p.H152D SAGE1_uc010nry.1_Missense_Mutation_p.H121D|SAGE1_uc011mvv.1_Missense_Mutation_p.H152D NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 152 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) CAGGGATCTGCGTATGTCTGC 0.408 42 129 --- --- --- --- PASS MIR513A2 574510 broad.mit.edu 37 X 146307450 146307450 + RNA SNP G T T TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:146307450G>T hsa-mir-513a-2|MI0003192 - c.21G>T 0 actgcacactgaatggctgaa 0.164 12 13 --- --- --- --- PASS IDS 3423 broad.mit.edu 37 X 148586591 148586591 + Missense_Mutation SNP G C C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:148586591G>C uc011mxe.1 - 1 275 c.77C>G c.(76-78)TCC>TGC p.S26C IDS_uc011mxf.1_Translation_Start_Site|IDS_uc011mxg.1_Translation_Start_Site|IDS_uc010nsu.1_Intron|IDS_uc004fcw.3_Intron|IDS_uc011mxh.1_Missense_Mutation_p.S26C|IDS_uc011mxi.1_RNA|IDS_uc011mxj.1_Missense_Mutation_p.S26C NM_000202 NP_000193 P22304 IDS_HUMAN iduronate-2-sulfatase isoform a precursor 26 lysosome iduronate-2-sulfatase activity|metal ion binding 0 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) CTGCGTTTCGGATCCGAGGGC 0.483 22 58 --- --- --- --- PASS DNASE1L1 1774 broad.mit.edu 37 X 153633251 153633251 + Missense_Mutation SNP C G G TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:153633251C>G uc004fks.1 - 4 420 c.229G>C c.(229-231)GAT>CAT p.D77H DNASE1L1_uc004fkt.1_Missense_Mutation_p.D77H|DNASE1L1_uc004fku.1_Missense_Mutation_p.D77H|DNASE1L1_uc004fkv.1_Missense_Mutation_p.D77H|DNASE1L1_uc004fkw.1_Missense_Mutation_p.D77H NM_006730 NP_006721 P49184 DNSL1_HUMAN deoxyribonuclease I-like 1 precursor 77 DNA catabolic process endoplasmic reticulum DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters 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) CCAGAGCCATCAAATCTGCCA 0.587 28 39 --- --- --- --- PASS ITM2A 9452 broad.mit.edu 37 X 78618459 78618459 + Frame_Shift_Del DEL T - - TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a25de54e-c13d-4973-864a-e307fbe7324a 4413b484-331d-439c-b762-73518802dc68 g.chrX:78618459delT uc004edh.2 - 3 756 c.421delA c.(421-423)ATTfs p.I141fs ITM2A_uc011mqr.1_Frame_Shift_Del_p.I97fs NM_004867 NP_004858 O43736 ITM2A_HUMAN integral membrane protein 2A 141 BRICHOS. integral to membrane protein binding lung(2) 2 TCATGAATAATTGCTGCAGGG 0.408 42 24 --- --- --- ---